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Sample records for tetralogy of fallot

  1. Tetralogy of Fallot

    Directory of Open Access Journals (Sweden)

    Anderson Robert H

    2009-01-01

    Full Text Available Abstract Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. This combination of lesions occurs in 3 of every 10,000 live births, and accounts for 7–10% of all congenital cardiac malformations. Patients nowadays usually present as neonates, with cyanosis of varying intensity based on the degree of obstruction to flow of blood to the lungs. The aetiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid. Associated chromosomal anomalies can include trisomies 21, 18, and 13, but recent experience points to the much more frequent association of microdeletions of chromosome 22. The risk of recurrence in families is 3%. Useful diagnostic tests are the chest radiograph, electrocardiogram, and echocardiogram. The echocardiogram establishes the definitive diagnosis, and usually provides sufficient information for planning of treatment, which is surgical. Approximately half of patients are now diagnosed antenatally. Differential diagnosis includes primary pulmonary causes of cyanosis, along with other cyanotic heart lesions, such as critical pulmonary stenosis and transposed arterial trunks. Neonates who present with ductal-dependent flow to the lungs will receive prostaglandins to maintain ductal patency until surgical intervention is performed. Initial intervention may be palliative, such as surgical creation of a systemic-to-pulmonary arterial shunt, but the trend in centres of excellence is increasingly towards neonatal complete repair. Centres that undertake neonatal palliation will perform the complete repair at the age of 4 to 6 months. Follow-up in patients born 30 years ago shows a rate of survival greater than 85%. Chronic issues

  2. Tetralogy of Fallot.

    Science.gov (United States)

    Bailliard, Frederique; Anderson, Robert H

    2009-01-13

    Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. This combination of lesions occurs in 3 of every 10,000 live births, and accounts for 7-10% of all congenital cardiac malformations. Patients nowadays usually present as neonates, with cyanosis of varying intensity based on the degree of obstruction to flow of blood to the lungs. The aetiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid. Associated chromosomal anomalies can include trisomies 21, 18, and 13, but recent experience points to the much more frequent association of microdeletions of chromosome 22. The risk of recurrence in families is 3%. Useful diagnostic tests are the chest radiograph, electrocardiogram, and echocardiogram. The echocardiogram establishes the definitive diagnosis, and usually provides sufficient information for planning of treatment, which is surgical. Approximately half of patients are now diagnosed antenatally. Differential diagnosis includes primary pulmonary causes of cyanosis, along with other cyanotic heart lesions, such as critical pulmonary stenosis and transposed arterial trunks. Neonates who present with ductal-dependent flow to the lungs will receive prostaglandins to maintain ductal patency until surgical intervention is performed. Initial intervention may be palliative, such as surgical creation of a systemic-to-pulmonary arterial shunt, but the trend in centres of excellence is increasingly towards neonatal complete repair. Centres that undertake neonatal palliation will perform the complete repair at the age of 4 to 6 months. Follow-up in patients born 30 years ago shows a rate of survival greater than 85%. Chronic issues that now face such adults

  3. Neurological Sequelae in Uncorrected Tetralogy of Fallot

    African Journals Online (AJOL)

    and one episode of generalized tonic‑clonic seizures associated with up rolling of eyeballs and frothing from the mouth. Child was a diagnosed case of Tetralogy of. Fallot following history of recurrent chest infections in infancy. He had two episodes of vomiting and five to six episodes of loose motions per day since 2 days.

  4. Heart failure complicating tetralogy of Fallot

    African Journals Online (AJOL)

    Tetralogy of Fallot (TOF), a cyanotic congenital heart disease comprising of right ventricular outflow tract obstruction (RVOTO), right ventricular hypertrophy (RVH), ventricular septal defect (VSD) and overriding of the aorta, constitutes about 10% of congenital heart diseases seen in. Nigeria.1 Congestive heart failure is not a ...

  5. UNCORRECTED TETRALOGY OF FALLOT IN A 30 - YEARS OLD

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    Dihingia

    2015-03-01

    Full Text Available Tetralogy of Fallot is the most common form of cyanotic congenital heart disease. Survival after the age of 12 years without corrective surgery is rare. We present the case of a 30 year - old man with uncorrected tetralogy of Fallot.

  6. Heart failure complicating tetralogy of Fallot | Ogunkunle | West ...

    African Journals Online (AJOL)

    Background: Heart failure is considered to be an unusual complication of uncorrected tetralogy of Fallot. Patients and method: Three adolescents with tetralogy of Fallot, presenting in congestive cardiac failure are presented. Two died. Myocardial infarction was found in the only patient that underwent autopsy, and is thought ...

  7. Tetralogía de Fallot y artrogriposis Tetralogy of Fallot related to arthrogryposis

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    Jacqueline Barrial Moreno

    2009-09-01

    Full Text Available La tetralogía de Fallot es una cardiopatía cianótica que representa el 5,4 % de todos los defectos cardíacos congénitos. El 12 % de estos pacientes pueden tener anomalías cromosómicas asociadas. Se presenta el caso de paciente, nacido de un parto gemelar, con edad de 10 meses y peso corporal de 8 kg, que nació con tetralogía de Fallot y artrogriposis distal. Se describe el manejo anestésico transoperatorio así como la evolución posoperatoria y las complicaciones que se presentaron.Tetralogy of Fallot is a cyanotic heart disease representing 5,4% of all the congenital cardiac defects. The 12% of these patients may to have associated chromosomal anomalies. Authors present the case of patient born of twins labor aged 10 months and a body weight of 8 k born with Tetralogy of Fallot and distal arthrogryposis. We describe transoperative anesthetetic management as well as postoperative course and complications present.

  8. Tetralogy of Fallot: General Principles of Management.

    Science.gov (United States)

    Downing, Tacy E; Kim, Yuli Y

    2015-11-01

    Repaired tetralogy of Fallot (TOF) is one of the most common diagnoses encountered when caring for adults with congenital heart disease. Although long-term survival after childhood TOF repair is excellent, morbidity is common and most patients require reintervention in adulthood. This review provides an overview of key surveillance and management issues for adults with TOF, including residual right ventricular outflow tract disease and timing of pulmonary valve replacement, arrhythmias and risk stratification, left-sided heart disease and heart failure, and pregnancy management. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Oral and dental management in children with tetralogy of fallot

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    Arlette Suzy Puspa Pertiwi

    2007-03-01

    Full Text Available Tetralogy of fallot is one of the congenital cyanotic heart disease that is often found in children. The disorder has four features, a ventricular septal defect, aortic overriding, infundibulary stenotic, and hypertrophy right ventricular. Like other congenital heart disease, tetralogy of fallot sometimes related to fatal complications, such as bacterial endocarditis which was related to dental infections. The correct management of oral and dental conditions is important to prevent bacterial endocarditis. This paper discussed the oral and dental conditions and its management in two cases of tetralogy of fallot children.

  10. The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.

    Science.gov (United States)

    Thompson, E; Cadbury, R; Baraitser, M

    1985-10-01

    A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.

  11. What Is Tetralogy of Fallot?

    Science.gov (United States)

    ... oxygen-poor blood from the right ventricle. Pulmonary Stenosis This defect involves narrowing of the pulmonary valve ... the lungs to pick up oxygen. In pulmonary stenosis, the pulmonary valve cannot fully open. Thus, the ...

  12. What Is Tetralogy of Fallot?

    Science.gov (United States)

    ... need a note for your child's school or coaches about limiting your child's exercise Ongoing Medical Care ... Heart Works Other Resources NHLBI Resources Story of Success: Congenital Heart Disease Non-NHLBI Resources Congenital Heart ...

  13. Living with Tetralogy of Fallot

    Science.gov (United States)

    ... need a note for your child's school or coaches about limiting your child's exercise Ongoing Medical Care ... Heart Works Other Resources NHLBI Resources Story of Success: Congenital Heart Disease Non-NHLBI Resources Congenital Heart ...

  14. Facts about Tetralogy of Fallot

    Science.gov (United States)

    ... blood doesn’t carry enough oxygen. At birth, infants might not have blue-looking skin, but later might develop sudden episodes ... after a baby is born, often after the infant has an episode of turning blue during crying or feeding (a tet spell). Some ...

  15. Arrhythmias After Tetralogy of Fallot Repair

    Directory of Open Access Journals (Sweden)

    Antonio Franco Folino

    2005-10-01

    Full Text Available Tetralogy of Fallot is the most common cyanotic congenital heart disease, with a good outcome after total surgical correction. In spite of a low perioperative mortality and a good quality of life, late sudden death remains a significant clinical problem, mainly related to episodes of sustained ventricular tachycardia and ventricular fibrillation. Fibro-fatty substitution around infundibular resection, intraventricular septal scar, and patchy myocardial fibrosis, may provide anatomical substrates of abnormal depolarization and repolarization causing reentrant ventricular arrhythmias. Several non-invasive indices based on classical examination such as ECG, signal-averaging ECG, and echocardiography have been proposed to identify patients at high risk of sudden death, with hopeful results. In the last years other more sophisticated invasive and non-invasive tools, such as heart rate variability, electroanatomic mapping and cardiac magnetic resonance added a relevant contribution to risk stratification. Even if each method per se is affected by some limitations, a comprehensive multifactorial clinical and investigative examination can provide an accurate risk evaluation for every patient.

  16. Treatment of tetralogy of Fallot hypoxic spell with intranasal fentanyl.

    Science.gov (United States)

    Tsze, Daniel S; Vitberg, Yaffa M; Berezow, Joel; Starc, Thomas J; Dayan, Peter S

    2014-07-01

    We present the case of a 3-month-old girl who had unrepaired Tetralogy of Fallot who presented to the emergency department with an acute hypoxic episode. The patient was hyperpneic and cyanotic, with an initial oxygen saturation of 56%. She did not respond to knee-to-chest positioning. A single dose of intranasal fentanyl was administered with subsequent resolution of her symptoms and improvement of her oxygen saturation to 78% within 10 minutes. To our knowledge, this is the first report of the successful treatment of a hypoxic episode of Tetralogy of Fallot using intranasal fentanyl. Copyright © 2014 by the American Academy of Pediatrics.

  17. Cockayne syndrome with tetralogy of Fallot: a case report.

    Science.gov (United States)

    Choong, C S; Liew, K L; Huang, Y F; Chiu, P C; Hsieh, K S

    1997-03-01

    Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities. This is a description of a three-year-old boy with typical features of Cockayne syndrome complicated with tetralogy of Fallot, pneumonia and hepato-splenomegaly. He had been suffering from frequent attacks of pneumonia and had been hospitalized for several times since birth. Tetralogy of Fallot was diagnosed under echocardiography study and he died suddenly in hospital during a mydriatic procedure in the Ophthalmologic Clinic.

  18. Tetralogy of Fallot with rheumatic mitral stenosis: A case report

    Directory of Open Access Journals (Sweden)

    Sai Krishna Cheemalapati

    2008-04-01

    Full Text Available Abstract Introduction Rheumatic and congenital heart diseases account for the majority of hospital admissions for cardiac patients in India. Tetralogy of Fallot is the most common congenital heart disease with survival to adulthood. Infective endocarditis accounts for 4% of admissions to a specialized unit for adult patients with a congenital heart lesion. This report is unique in that a severe stenotic lesion of the mitral valve, probably of rheumatic aetiology, was noted in an adult male with Tetralogy of Fallot. Case presentation An unusual association of rheumatic mitral stenosis in an adult Indian male patient aged 35 years with Tetralogy of Fallot and subacute bacterial endocarditis of the aortic valve is presented. Conclusion In this case report the diagnostic implications, hemodynamic and therapeutic consequences of mitral stenosis in Tetralogy of Fallot are discussed. In addition, the morbidity and mortality of infective endocarditis in adult patients with congenital heart disease are summarized. The risk of a coincident rheumatic process in patients with congenital heart disease is highlighted and the need for careful attention to this possibility during primary and follow-up evaluation of such patients emphasized.

  19. Magnetic resonance angiography vs. angiography in tetralogy of Fallot.

    Science.gov (United States)

    Rao, Uppalapati Venkateswara; Vanajakshamma, Velam; Rajasekhar, Durgaprasad; Lakshmi, Amancharla Yadagiri; Reddy, Reddivari Niranjan

    2013-08-01

    : To determine whether gadolinium-enhanced three-dimensional magnetic resonance angiography can provide a noninvasive alternative to diagnostic catheterization for evaluation of pulmonary artery anatomy in tetralogy of Fallot. Thirty-five consecutive patients with tetralogy of Fallot, who attended the cardiology outpatient department between January 2008 and December 2009, were included in the study. There were 21 males and 14 females, with a mean age of 9 ± 4.15 years (range, 3-21 years). Thirty-two patients had tetralogy of Fallot with varying severities of valvular and infundibular stenosis. Three patients had tetralogy of Fallot with pulmonary atresia. All patients underwent both cardiac catheterization with X-ray angiography and 3-dimensional magnetic resonance angiography within one month. Measurements of right and left pulmonary arteries and aortopulmonary collaterals were equal by both methods. There was a good correlation between magnetic resonance angiography and catheterization measurements of branch pulmonary arteries. Gadolinium-enhanced three-dimensional magnetic resonance angiography can be used as a reliable noninvasive alternative to X-ray cineangiography for delineation of pulmonary arterial anatomy in sick infants and young children, obviating the need for catheterization.

  20. Tetralogy of Fallot: nosological, morphological, and morphogenetic considerations.

    Science.gov (United States)

    Anderson, Robert H; Spicer, Diane E; Giroud, Jorge M; Mohun, Timothy J

    2013-12-01

    It is timely, in the 125th anniversary of the initial description by Fallot of the hearts most frequently seen in patients presenting with "la maladie bleu", that we revisit his descriptions, and discuss his findings in the light of ongoing controversies. Fallot described three hearts in his initial publication, and pointed to the same tetralogy of morphological features that we recognise today, namely, an interventricular communication, biventricular connection of the aorta, subpulmonary stenosis, and right ventricular hypertrophy. In one of the hearts, he noted that the aorta arose exclusively from the right ventricle. In other words, one of his initial cases exhibited double-outlet right ventricle. When we now compare findings in hearts with the features of the tetralogy, we can observe significant variations in the nature of the borders of the plane of deficient ventricular septation when viewed from the aspect of the right ventricle. We also find that this plane, usually described as the ventricular septal defect, is not the same as the geometric plane separating the cavities of the right and left ventricles. This means that the latter plane, the interventricular communication, is not necessarily the same as the ventricular septal defect. We are now able to provide further insights into these features by examining hearts prepared from developing mice. Additional molecular investigations will be required, however, to uncover the mechanisms responsible for producing the morphological changes underscoring tetralogy of Fallot.

  1. Penatalaksanaan Anestesi Pasien Tetralogy of Fallot pada Operasi Mouth Preparation

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    Arsy Felisita Dausawati

    2013-08-01

    Full Text Available Tetralogy of Fallot (TOF is a congenital heart disease consisting of a ventricular septal defect, overriding aorta, pulmonary stenosis and right ventricular hypertrophy. Tetralogy of Fallot, including the type of cyanotic congenital heart defects. A boy of 9 years came for treatment and tooth extraction as preparation for the surgical correction of TOF at the Dr. Hasan Sadikin Hospital-Bandung whitin February 2012. Patients with a history of blue as a baby, and on physical examination found the child looking cyanosis, SpO2 70–75%, systolic murmur and finger clubbing. Abnormalities on echocardiography obtained TOF. Anesthetic management of these patients was performed using ketamine and vecuronium for induction and maintenance with O2, N2O and halothane. Cyanotic attacks can occur preoperative, intraoperative and postoperative, who treated by increasing systemic vascular resistance (SVR compared to pulmonary vascular resistance (PVR. In conclusions, perioperatif mangement principal for non cardiac surgery on tetralogy of fallot (TOF is to prevent shunting from right to left by keep the SVR from decline, increase on PVR, and reduce infundibular spasme.

  2. Surgery for Tetralogy of Fallot in Adults: Early Outcomes

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    Imran Khan

    Full Text Available Abstract Objective: To study the in-hospital outcome of adult patients who had undergone surgical repair for Tetralogy of Fallot. Methods: A retrospective descriptive study was conducted at the Punjab Institute of Cardiology searching the hospital records. All those adult patients who had undergone repair for Tetralogy of Fallot from January 2012 to December 2014 were included in the study. All the patients were operated by the same surgical team. Patients who underwent primary repair as well as those with previous palliative procedures were included in the study. Thirty days outcome was studied by recording variables from the database. Data was analysed using Statistical Package for Social Sciences version 16. Results: A total of 80 patients was included in the study, in which there were 48 (60% male patients and 32 (40% female patients. Mean age was 21±0.21 years. Those with previous palliation were 15 (18.75%. The associated problems observed were: atrial septal defect 27 (33.75%, right aortic arch 30 (37.5%, patent ductus arteriosus 6 (7.5% and double outlet right ventricle 3 (3.75%. In-hospital mortality recorded was 7 (8%. Postoperative complications encountered were low cardiac output syndrome 9 (11.25%, pleural effusion requiring tapping 3 (3.75%, reoperation for bleeding 3 (3.8%, pulmonary regurgitation (moderate to severe 20 (25% which occurred in the transannular patch group only and atrial arrhythmia 4 (5%. Conclusion: A large number of adult patients are still operated for tetralogy of Fallot in Pakistan. With increasing experience in the technique the mortality and morbidity is comparable to international literature.

  3. Tetralogy of Fallot: fetal diagnosis to surgical correction.

    Science.gov (United States)

    Monaco, M; Williams, I

    2012-10-01

    Tetralogy of Fallot is one of the most common forms of cyanotic congenital heart disease. The diagnosis consists of four main anatomic features: a large ventricular septal defect (anterior malaligned), overriding aorta, right ventricular outflow obstruction and right ventricular hypertrophy. The refinement of fetal screening and echocardiography has led to an increase in prenatal diagnosis. Prenatal diagnosis along with the recognition of extracardiac anomalies and genetic abnormalities, including 22q11 deletion, sets the framework for prenatal counseling and can help predict the postnatal course and surgical repair. After birth, the degree of cyanosis and the presence of other extracardiac and cardiac abnormalities will direct the timing of surgical repair. Full surgical repair within the first year of life, either primary or after a palliative procedure, is the mainstay of therapy. Our understanding of the consequences of prior era surgeries and the detrimental effects of long standing pulmonary insufficiency has led to newer surgical and interventional techniques. Tetralogy of Fallot is a lifelong disease that requires careful follow up through adulthood with the potential for additional surgical and interventional procedures later in life.

  4. Preoperative Pulmonary Valvuloplasty in Tetralogy of Fallot with Right-To-Left Shunt

    Directory of Open Access Journals (Sweden)

    Baris Bugan

    2014-12-01

    Full Text Available Tetralogy of Fallot is the most common cyanotic congenital heart disease and characterized by right ventricular outflow tract obstruction, ventricular septal defect, overriding aorta, and right ventricular hypertrophy. Right ventricular outflow tract obstruction and ventricular septal defect are the major clinical components of the syndrome. Although most have undergone a corrective operation, an important minority of patients with tetralogy of Fallot have had a preoperative palliative procedure. Herein we reported a succesful palliative percutaneous balloon valvuloplasty of pulmonary stenosis at an 19-year-old female patient with tetralogy of Fallot who was considered as inoperable for corrective surgery due to right -to-left shunt.

  5. Outcomes of Tetralogy of Fallot repair performed after three years of age

    Directory of Open Access Journals (Sweden)

    Ni Putu Veny Kartika Yantie

    2016-07-01

    Conclusion Tetralogy of Fallot repair after 3 years of age appears to not increase ICU LoS or is associated with lower TAPSE, but it is associated with longer QRS duration. [Paediatr Indones. 2016;56:176-83.].

  6. Tetralogy of Fallot in men: quality of life, family, education, and employment.

    Science.gov (United States)

    Bygstad, Elisabeth; Pedersen, Lia C V M; Pedersen, Thais A L; Hjortdal, Vibeke E

    2012-08-01

    Little is known about the quality of life, health, family, education, and employment status among adult men with repaired tetralogy of Fallot. A total of 68 men who underwent repair of tetralogy of Fallot between 1971 and 1991 were studied. Fifty-three patients answered the SF-36 health survey and additional questions regarding offspring, education, and employment status. The men with repaired tetralogy of Fallot were compared with 32 healthy men and 40 women who also underwent repair of tetralogy of Fallot in the same period. The patients scored lower than healthy men in the SF-36 categories physical functioning, general health, and physical component summary. There were no statistically significant differences in the scores from male and female patients except a lower score in bodily pain among women. Educational level for men operated for tetralogy of Fallot was similar to the general male population, whereas fewer were employed and more were retired, undergoing rehabilitation or receiving social benefits. The reproduction rate was lower compared with the general population (0.65 versus 1.02 children per man) but relatively higher than the rate among women with tetralogy of Fallot (0.88 versus 1.84 children per woman). The risk of having a child with congenital heart disease was 8.3%. Men operated for tetralogy of Fallot have good quality of life and educational status. They start a family, although their reproduction rate is two-thirds that of the general population. The risk of having a child with congenital heart disease is higher compared with the background population. The overall quality of life is similar for men and women operated for tetralogy of Fallot.

  7. Tetralogia de Fallot em cão Tetralogy of Fallot in dogs

    Directory of Open Access Journals (Sweden)

    Rodrigo Ramos de Freitas

    2003-12-01

    Full Text Available A Tetralogia de Fallot é uma moléstia cardíaca congênita caracterizada pela presença de hipoxemia provocada principalmente pela estenose pulmonar e defeito septal interventricular, exteriorizada pelo animal com o quadro de cianose. Atualmente, tem-se vários métodos de diagnóstico de grande precisão, na determinação de tal afecção. Existem vários tratamentos da Tetralogia de Fallot, desde medicamentoso até a sua correção cirúrgica definitiva, com o reparo dos defeitos cardíacos. Aquele que vem sendo mais utilizado é o tratamento cirúrgico paliativo, com a criação de um desvio sistêmico-pulmonar, utilizando-se a técnica de Blalock-Taussig, que cria uma comunicação entre a aorta e a artéria pulmonar com a artéria subclávia esquerda.Tetralogy of Fallot is a congenital cardiac disease characterized by the presence of hypoxemia because of the pulmonary stenosis and the ventricular septal defect. The symptom in the animal is cianosis. Actually, there are many diagnostic methods of this affection. There are many treatments for Tetralogy of Fallot, such as the medicamentosus treatment and the definitive surgical correction, reparing the cardiac defects. The most used is the palliative surgical treatment, creating systemic-pulmonar shunt. The most famous surgical method is the Blalock-Taussig surgery, when the surgeon creates a communication between the aorta and pulmonary artery, using the left subclavian artery.

  8. Two melodies in concert: mitral and pulmonary valve replacement late in repaired tetralogy of Fallot.

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    Fang, Zhi; Hu, Jia; Zhu, Xianglan; Lin, Ke

    2015-04-17

    Disruption of pulmonary valve integrity after Tetralogy of Fallot repair often results in a cascade of hemodynamic and electrophysiological abnormalities. Here we report an uncommon case of severe pulmonary regurgitation with concomitant rheumatic mitral stenosis diagnosed 25 years after primary Tetralogy of Fallot repair. A 33-year-old man presented with symptomatic palpitation and exercise intolerance and was treated successfully with pulmonary and mitral valve replacement, after which his symptoms improved dramatically.

  9. Ventricular arrhythmias and sudden death in tetralogy of Fallot.

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    Maury, Philippe; Sacher, Frederic; Rollin, Anne; Mondoly, Pierre; Duparc, Alexandre; Zeppenfeld, Katja; Hascoet, Sebastien

    2017-05-01

    Malignant ventricular arrhythmias and sudden cardiac death may late happen in repaired tetralogy of Fallot, although probably less frequently than previously thought, especially with the advent of new surgical techniques/management. Ventricular tachycardias are caused by reentry around the surgical scars/patches and valves. Many predictive factors have been proposed, which suffer from poor accuracy. There is currently no recommended indication for prophylactic implantable cardioverter defibrillator implantation-except maybe in the case of multiple risk factors-while radiofrequncy ablation may be proposed in secondary prevention with or even without a back-up implantable cardioverter defibrillator in selected cases. Repeated cardiological investigations and monitoring should be proposed for every operated patient. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  10. Neurological Sequelae in Uncorrected Tetralogy of Fallot

    African Journals Online (AJOL)

    4 years of age is thrombosis of intracranial dural sinuses or cerebral veins usually in association with iron‑deficiency anemia. Superior sagittal sinus, transverse sinus, great vein of. Galen, and meningeal veins are the common sites of thrombosis in decreasing order of precedence. Intracranial hypertension may be the only ...

  11. How Is Tetralogy of Fallot Treated?

    Science.gov (United States)

    ... need a note for your child's school or coaches about limiting your child's exercise Ongoing Medical Care ... Heart Works Other Resources NHLBI Resources Story of Success: Congenital Heart Disease Non-NHLBI Resources Congenital Heart ...

  12. Tetralogy of Fallot and atrial septal defect in a white Bengal Tiger cub (Panthera tigris tigris).

    Science.gov (United States)

    Pazzi, Paolo; Lim, Chee K; Steyl, Johan

    2014-03-04

    A 3-week-old female white Bengal Tiger cub (Panthera tigris tigris) presented with acute onset tachypnoea, cyanosis and hypothermia. The cub was severely hypoxaemic with a mixed acid-base disturbance. Echocardiography revealed severe pulmonic stenosis, right ventricular hypertrophy, high membranous ventricular septal defect and an overriding aorta. Additionally, an atrial septal defect was found on necropsy, resulting in the final diagnosis of Tetralogy of Fallot with an atrial septal defect (a subclass of Pentalogy of Fallot). This report is the first to encompass arterial blood gas analysis, thoracic radiographs, echocardiography and necropsy findings in a white Bengal Tiger cub diagnosed with Tetralogy of Fallot with an atrial septal defect.

  13. Impact of right ventricular endocardial trabeculae on volumes and function assessed by CMR in patients with tetralogy of Fallot

    NARCIS (Netherlands)

    Freling, Hendrik G.; van Wijk, Kees; Jaspers, Karolien; Pieper, Petronella G.; Vermeulen, Karin M.; van Swieten, Jeroen M.; Willems, Tineke P.

    The objective of this study was to assess the impact of right ventricular (RV) trabeculae and papillary muscles on measured volumes and function assessed by cardiovascular magnetic resonance imaging in patients with repaired tetralogy of Fallot. Sixty-five patients with repaired tetralogy of Fallot

  14. Aortic root and ascending aortic aneurysm in an adult with a repaired tetralogy of fallot.

    Science.gov (United States)

    Kim, Tae Sik; Na, Chan-Young; Baek, Jong Hyun; Yang, Jin Sung

    2011-08-01

    Surgical repair of the tetralogy of Fallot is one of the most successful operations in the treatment of congenital heart diseases. We report the case of a 65-year-old man who had an aortic valve replacement at the time of complete repair of the tetralogy of Fallot at the age of forty-three. He subsequently had progressive aortic root and ascending aorta dilation to 9 cm. The aortic root and ascending aorta replacement was done using a composite valve-graft and was performed along with other procedures. Thus, meticulous follow-up of aortic root and ascending aorta after corrective surgery for tetralogy of Fallot is recommended following initial curative surgery.

  15. Functionally significant, rare transcription factor variants in tetralogy of Fallot.

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    Töpf, Ana; Griffin, Helen R; Glen, Elise; Soemedi, Rachel; Brown, Danielle L; Hall, Darroch; Rahman, Thahira J; Eloranta, Jyrki J; Jüngst, Christoph; Stuart, A Graham; O'Sullivan, John; Keavney, Bernard D; Goodship, Judith A

    2014-01-01

    Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF). We sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1) in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network. This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3-13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.

  16. Functionally significant, rare transcription factor variants in tetralogy of Fallot.

    Directory of Open Access Journals (Sweden)

    Ana Töpf

    Full Text Available Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF.We sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1 in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network.This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3-13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.

  17. Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

    Science.gov (United States)

    Töpf, Ana; Griffin, Helen R.; Glen, Elise; Soemedi, Rachel; Brown, Danielle L.; Hall, Darroch; Rahman, Thahira J.; Eloranta, Jyrki J.; Jüngst, Christoph; Stuart, A. Graham; O'Sullivan, John; Keavney, Bernard D.; Goodship, Judith A.

    2014-01-01

    Objective Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF). Methods and Results We sequenced the coding, 5′UTR, and 3′UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1) in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network. Significance This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3–13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease. PMID:25093829

  18. ANAESTHETIC MANAGEMENT OF TETRALOGY OF FALLOT COMING FOR NON - CARDIAC SURGERY: A CASE REPORT

    OpenAIRE

    Dilesh; Cheran; Gopi Kumar; Ittyerah P.

    2015-01-01

    Tetralogy of Fallot is a cyanotic congenital heart disorder and includes ventricular septal defect , right ventricular outflow tract obstruction (pulmonic stenosis ), right ventricular hypertrophy and overriding of aorta . Anaesthetic goals in these patients is to maintain or increase the systemic vascular resistance minimize pulmonary vascular resistance and provide mild cardiac depression . Here we present a report of anaesthetic management of a 5 year ol...

  19. Cardiac magnetic resonance markers of progressive RV dilation and dysfunction after tetralogy of Fallot repair

    NARCIS (Netherlands)

    Wald, Rachel M.; Valente, Anne Marie; Gauvreau, Kimberlee; Babu-Narayan, Sonya V.; Assenza, Gabriele Egidy; Schreier, Jenna; Gatzoulis, Michael A.; Kilner, Philip J.; Koyak, Zeliha; Mulder, Barbara; Powell, Andrew J.; Geva, Tal

    2015-01-01

    Patients with repaired tetralogy of Fallot (TOF) are followed serially by cardiac magnetic resonance (CMR) for surveillance of RV dilation and dysfunction. We sought to define the prevalence of progressive RV disease and the optimal time interval between CMR evaluations. Candidates were selected

  20. Psychosocial impact of implantable cardioverter defibrillators (ICD) in young adults with Tetralogy of Fallot

    NARCIS (Netherlands)

    Opic, Petra; Utens, Elisabeth M. W. J.; Moons, Philip; Theuns, Dominic A. M. J.; van Dijk, Arie P. J.; Hoendermis, Elke S.; Vliegen, Hubert W.; de Groot, Natasja M. S.; Witsenburg, Maarten; Schalij, Martin; Roos-Hesselink, Jolien W.

    To investigate the psychosocial impact of having an implantable cardioverter defibrillator (ICD) in adults with Tetralogy of Fallot (ToF). Included were 26 ToF-patients with an ICD (age 44 +/- A 12 years), and two control groups consisting of 28 ToF-patients without an ICD (age 40 +/- A 10 years)

  1. Psychosocial impact of implantable cardioverter defibrillators (ICD) in young adults with Tetralogy of Fallot.

    NARCIS (Netherlands)

    Opic, P.; Utens, E.M.; Moons, P.; Theuns, D.A.; Dijk, A.P.J. van; Hoendermis, E.S.; Vliegen, H.W.; Groot, N.M. de; Witsenburg, M.; Schalij, M.; Roos-Hesselink, J.W.

    2012-01-01

    OBJECTIVE: To investigate the psychosocial impact of having an implantable cardioverter defibrillator (ICD) in adults with Tetralogy of Fallot (ToF). METHODS: Included were 26 ToF-patients with an ICD (age 44 +/- 12 years), and two control groups consisting of 28 ToF-patients without an ICD (age 40

  2. Psychosocial impact of implantable cardioverter defibrillators (ICD) in young adults with Tetralogy of Fallot

    NARCIS (Netherlands)

    P. Opic (Petra); E.M.W.J. Utens (Elisabeth); P. Moons (Philip); D.A.M.J. Theuns (Dominic); A.P.J. van Dijk (Arie); E.S. Hoendermis (Elke); H.W. Vliegen (Hubert); N.M.S. de Groot (Natasja); M. Witsenburg (Maarten); M.J. Schalij (Martin Jan); J.W. Roos-Hesselink (Jolien)

    2012-01-01

    textabstractObjective To investigate the psychosocial impact of having an implantable cardioverter defibrillator (ICD) in adults with Tetralogy of Fallot (ToF). Methods Included were 26 ToF-patients with an ICD (age 44 ± 12 years), and two control groups consisting of 28 ToF-patients without an ICD

  3. Clinical diagnosis and alternative surgical treatment of tetralogy of Fallot in a dog. A case report

    Directory of Open Access Journals (Sweden)

    Larsson M.H.M.A

    2000-01-01

    Full Text Available Tetralogy of Fallot was diagnosed in a 30 month-old Cocker Spaniel female, through physical, radiographic, electrocardiographic, and echocardiographic exams. The animal was submitted to a palliative surgical correction, the Blalock-Taussig technique, and 46 months after the surgery, no signs of cardiopulmonary decompensation were observed.

  4. Tetralogy of Fallot in a 2-year-old Holstein heifer

    Science.gov (United States)

    McKenna, Shawn L.B.; Barkema, Herman W.; McClure, J. T.; Rogers, Laura A.

    2003-01-01

    A 2-year-old, purebred Holstein heifer with exercise intolerance and cardiovascular compromise was diagnosed at postmortem with tetralogy of Fallot, which typically results in death within a few months of life. Survival past the age of 2 was unexpected. The concurrent endocarditis of the pulmonic valve is discussed. PMID:12715983

  5. Tetralogy of fallot with dextrocardia and situs inversus in a 7-year-old boy.

    Science.gov (United States)

    Dilorenzo, Michael; Weinstein, Samuel; Shenoy, Rajesh

    2013-01-01

    Tetralogy of Fallot is one of the most frequently diagnosed congenital cardiac abnormalities; however, its association with dextrocardia and situs inversus is reported only rarely. We report a case of these findings in a 7-year-old boy, describe the patient's postoperative course, and review the medical literature relevant to these combined conditions.

  6. Tetralogy of fallot, dextrocardia, and situs inversus associated with total anomalous pulmonary venous return.

    Science.gov (United States)

    Talwar, Sachin; Rajashekar, Palleti; Muthukkumaran, Subramanian; Airan, Balram

    2013-09-01

    We report a 3-year-old patient with tetralogy of Fallot (TOF), dextrocardia, situs inversus (SI), and total anomalous pulmonary venous return. This combination of anomalies is extremely unusual. The management is discussed and the literature is reviewed. © 2013 Wiley Periodicals, Inc.

  7. Coexistence of tachyarrhythmias in patients with tetralogy of Fallot.

    Science.gov (United States)

    Mouws, Elisabeth M J P; Roos-Hesselink, Jolien W; Bogers, Ad J J C; de Groot, Natasja M S

    2017-11-21

    The expanding population of adult patients with tetralogy of Fallot (ToF) requires knowledge of its long-term sequelae. The purpose of this study was to examine the coexistence and order of appearance of atrial fibrillation (AF), other supraventricular tachycardias (SVTs), ventricular tachycardia (VT), and ventricular fibrillation (VF), and their impact on survival during long-term follow-up. Adult, corrected ToF patients [N = 225; 128 male; mean ± SD (minimum-maximum) age 41 ± 12 (19-79) years] were included in the study. Medical correspondence, ECGs, and Holter recordings were reviewed for documented AF, other SVTs, VT, and VF. During follow-up of 35 ± 9 (16-64) years, sustained tachyarrhythmias, including SVT (n=50, 22%), AF (n=29, 13%), VT (n=20, 9%), and VF (n=9, 4%), were observed in 71 patients (32%), of whom 27 (38%) had coexistence of different tachyarrhythmias. In 18 patients with coexisting SVT and AF, SVT most often preceded AF in 13 (72%). Age at SVT onset was similar between those with and those without subsequent AF development (40 ± 17 years vs 35 ± 16 years; P = .283). However, age at SVT and AF onset were positively correlated (rho 0.585; P = .011). Prevalence of SVT/AF was associated with VT/VF prevalence (odds ratio [OR] 4.59; P SVT/AF subsequently develop VT/VF, onset of SVT/AF could not predict future VT/VF development (OR 1.81; P = .233). Adult ToF patients are initially at risk for SVT development, followed by AF, VT, and VF at 46 (43-50), 56 (53-59), 57 (54-61), and 62 (61-63) years after ToF correction (P SVT, AF, and VT was positively correlated with age at death (SVT: rho 0.734; P = .004; AF: rho 0.783; P = .007, VT: rho 0.755; P = .050). Coexistence of different (supra)ventricular tachyarrhythmias is frequently observed in adult ToF patients. In these patients, a specific order of these tachyarrhythmias was observed. Tachyarrhythmias are associated with decreased survival time, and, more importantly, age at tachyarrhythmia

  8. Uteroplacental Doppler flow and pregnancy outcome in women with tetralogy of Fallot

    NARCIS (Netherlands)

    Kampman, M. A. M.; Siegmund, A. S.; Bilardo, C. M.; van Veldhuisen, D. J.; Balci, A.; Oudijk, M. A.; Groen, H.; Mulder, B. J. M.; Roos-Hesselink, J. W.; Sieswerda, G.; De Laat, M. W. M.; Sollie-Szarynska, K. M.; Pieper, P. G.

    Objective Pregnancy in women with surgically corrected tetralogy of Fallot (ToF) is associated with cardiac, obstetric and neonatal complications. We compared uteroplacental Doppler flow (UDF) measurements and pregnancy outcome in women with ToF and in healthy women and aimed to assess whether a

  9. Anestesia en la tetralogía de Fallot Anesthesia in the tetralogy of Fallot

    Directory of Open Access Journals (Sweden)

    Lincoln de la Parte Pérez

    2004-12-01

    Full Text Available Se presenta una revisión bibliográfica sobre las características fundamentales de esta enfermedad, la repercusión hemodinámica que produce, las complicaciones que se presentan durante el preoperatorio, los defectos asociados a esta, el tratamiento preoperatorio y el manejo anestésico que se utiliza. Estos pacientes que se programan para una reconstrucción anatómica, están en el mejor de los casos sólo compensados parcialmente, por lo que pueden presentar inestabilidad hemodinámica con la administración de los agentes anestésicos, especialmente durante la inducción anestésica. Por todo lo anterior es que deben ser atendidos con delicadeza y cuidado extremo para evitar empeorar la disfunción cardiovascular preexistente, que crearía un ciclo de agravamiento de la hipoxia, acidosis y disminución del gasto cardíaco.A bibliographic review of the main characteristics of this disease, the hemodynamic repercussion it produces, the complications appearing during the preoperatory, the defects associated with it, the preoperative treatment and the anesthetic management used in it, is made. These patients that are scheduled for an anatomical reconstruction are at best only partially compesated, so they can present hemodynamic unstability with the administration of anesthetic agents, specially during anesthetic induction. Taking all this into account, they should receive a delicate and extremely careful attention so as not to worsen the preexisting cardiovascular dysfunction that will create a cycle of severeness of hypoxia, acidosis and reduction of the cardiac output.

  10. Intranasal midazolam for the emergency management of hypercyanotic spells in tetralogy of Fallot.

    Science.gov (United States)

    Montero, Jesus Vallejo; Nieto, Esther Moreno; Vallejo, Inmaculada Rubio; Montero, Sergio Vallejo

    2015-04-01

    The case of a 2-month-old boy with previously diagnosed tetralogy of Fallot who was brought to the emergency department with a hypercyanotic spell is described. Because partly of the difficulty of intravenous placement, especially in an infant crying with marked hypernea and deeply cyanotic, intranasal midazolam was administered. Before 3 minutes of hypernea terminated increasing the oxygen saturation successfully and intravenous line was easily placed with the baby remaining in calm. Sedation is an important step in the management of patients with cyanotic spells. Intranasal midazolam offers an alternative use as an initial method of calming the child that was effective in a patient with a severe cyanotic spell because of tetralogy of Fallot in the emergency department.

  11. Clinical application of 64-slice spiral CT in the diagnosis of the Tetralogy of Fallot

    Energy Technology Data Exchange (ETDEWEB)

    Wang Ximing [Tianjin Medical University, Tianjin City (China) and Shandong Medical Imaging Research Institute, Jinan City, Shandong Province 250021 (China)], E-mail: wxming369@163.com.cn; Wu Lebin [Shandong Medical Imaging Research Institute, Jinan City, Shandong Province 250021 (China); Sun Cong [Shandong Medical Imaging Research Institute, Jinan City, Shandong Province 250021 (China); Shandong University Medical College, Shandong Jinan 250012 (China); Liu Cheng [Shandong Medical Imaging Research Institute, Jinan City, Shandong Province 250021 (China); Chao, Bao-Ting [Shandong University Medical College, Shandong Jinan 250012 (China); Han Bo [Shandong Provincial Hospital Pediatric Department, Shandong, Jinan 250021 (China); Zhang Yunting [Tianjin Medical University, General Hospital MR Department, Tianjin City (China); Chen Haisong [Shandong Medical Imaging Research Institute, Jinan City, Shandong Province 250021 (China); Shandong University Medical College, Shandong Jinan 250012 (China); Li Zhenjia [Shandong Medical Imaging Research Institute, Jinan City, Shandong Province 250021 (China)

    2007-11-15

    Objective: To explore the clinical application of 64-slice spiral CT in the diagnosis of the Tetralogy of Fallot. Methods: Eighteen patients with diagnosed Tetralogy of Fallot underwent cardiac CT angiography with 64-slice CT (CTA). Two- and three-dimensional images were used for diagnosing in all cases by means of MPR (coronal, sagital and oblique), cMPR, MIP and VRT. Results: All patients had ventricular septal defect, pulmonary stenosis and hypertrophy of right ventricle. The morphologic features of Tetralogy of Fallot were equal to echocardiography. Patent ductus arteriosus (PDA) were detected on eight patients. Main coronary artery branches and partial sub-branches were visualized in all patients. Abnormal coronary arteries were found in seven cases: both left and right main coronary artery arising from the right aortic sinus one case, right main coronary artery and circumflex (CX) arising from the right aortic sinus one case, left anterior descending (LAD) and CX arising from left aortic sinus directly one case, left and right coronary artery arising from back and front of the aortic sinus, respectively, three cases. Pulmonary artery branch stenosis was found in 12 cases and branch pulmonary artery dilation noticed in 1 case. Double superior vena cava was also found in one case. According to the surgery the diagnostic accuracy of CT and Echocardiography was 95.45 and 83.33%, respectively. Conclusion: Two- and three-dimensional 64-slice CTA not only show the overall anatomical structure of the heart, but also show coronary and pulmonary arteries. With these results, evaluation of coronary anomalies and pulmonary artery stenosis with 64-MSCT is extremely valuable for planning the operative procedure on the patients with Tetralogy of Fallot.

  12. Tetralogy of Fallot Associated With Invasive Adrenocortical Tumor in an Adult Woman

    Science.gov (United States)

    Martinez-Quintana, Efren; Rodriguez-Gonzalez, Fayna; Alberiche-Ruano, Maria Pino; Martinez-Martin, Maria Soledad

    2012-01-01

    Migration of cardiac neural crest cells into the pharyngeal arches and the pharyngeal and splanchnic mesoderm contributes to the development of the cardiac outflow tract. The adrenal cortex is derived from the splanchnic mesoderm. Neuroblastoma is more prevalent in patients with congenital heart disease than in the general population, because both originate from embryonal neural crest-derived cells. Similarly, and in light of recent embryological findings, abnormal development or migration of splanchnic mesoderm, possibly due to an underlying genetic defect, could contribute to the association of adrenocortical carcinoma and tetralogy of Fallot. We present the case of a cardiologically asymptomatic 49-year-old woman with total correction of tetralogy of Fallot in the first year of life. PMID:23843811

  13. Mouth Preparation Pada Anak Dengan Kelainan Jantung Kongenital Tetralogi of Fallot, Pre-operatif Kardiovaskuler

    OpenAIRE

    Muhammad Harun Achmad; Maryanne Susanti

    2007-01-01

    Teeth dimension is the factor influenced the incidence of tooth impaction. The most The congenital figure of the heart defect incident in several educational hospitals in Indonesia almost reached 9 per 1,000 born babies who survive to live (0.8-1.2%). Tetralogi of Fallot was one of the cyanotic congenital heart defects that were often found to children. This situation had four forms of the deviation: defect of the ventricle septum, overriding aorta, stenosis infundibuler, an...

  14. Tetralogy of Fallot and Hypoplastic Left Heart Syndrome ? Complex Clinical Phenotypes Meet Complex Genetic Networks

    OpenAIRE

    Lahm, Harald; Sch?n, Patric; Doppler, Stefanie; Dre?en, Martina; Cleuziou, Julie; Deutsch, Marcus-Andr?; Ewert, Peter; Lange, R?diger; Krane, Markus

    2015-01-01

    In many cases congenital heart disease (CHD) is represented by a complex phenotype and an array of several functional and morphological cardiac disorders. These malformations will be briefly summarized in the first part focusing on two severe CHD phenotypes, hypoplastic left heart syndrome (HLHS) and tetralogy of Fallot (TOF). In most cases of CHD the genetic origin remains largely unknown, though the complexity of the clinical picture strongly argues against a dysregulation which can be attr...

  15. Earlier Pulmonary Valve Replacement in Down Syndrome Patients Following Tetralogy of Fallot Repair.

    Science.gov (United States)

    Sullivan, Rachel T; Frommelt, Peter C; Hill, Garick D

    2017-08-01

    The association between Down syndrome and pulmonary hypertension could contribute to more severe pulmonary regurgitation after tetralogy of Fallot repair and possibly earlier pulmonary valve replacement. We compared cardiac magnetic resonance measures of pulmonary regurgitation and right ventricular dilation as well as timing of pulmonary valve replacement between those with and without Down syndrome after tetralogy of Fallot repair. Review of our surgical database from 2000 to 2015 identified patients with tetralogy of Fallot with pulmonary stenosis. Those with Down syndrome were compared to those without. The primary outcome of interest was time from repair to pulmonary valve replacement. Secondary outcomes included pulmonary regurgitation and indexed right ventricular volume on cardiac magnetic resonance imaging. The cohort of 284 patients included 35 (12%) with Down syndrome. Transannular patch repair was performed in 210 (74%). Down syndrome showed greater degree of pulmonary regurgitation (55 ± 14 vs. 37 ± 16%, p = 0.01) without a significantly greater rate of right ventricular dilation (p = 0.09). In multivariable analysis, Down syndrome (HR 2.3, 95% CI 1.2-4.5, p = 0.02) and transannular patch repair (HR 5.5, 95% CI 1.7-17.6, p = 0.004) were significant risk factors for valve replacement. Those with Down syndrome had significantly lower freedom from valve replacement (p = 0.03). Down syndrome is associated with an increased degree of pulmonary regurgitation and earlier pulmonary valve replacement after tetralogy of Fallot repair. These patients require earlier assessment by cardiac magnetic resonance imaging to determine timing of pulmonary valve replacement and evaluation for and treatment of preventable causes of pulmonary hypertension.

  16. Clinical Profile of Patients with Tetralogy of Fallot admitted for Surgery at a Cardiac surgical centre

    Directory of Open Access Journals (Sweden)

    B E Otaigbe

    2011-04-01

    Full Text Available INTRODUCTION: Tetralogy of Fallot (TOF, a conotruncal defect, has been documented to be associated with chromosome abnormalities, single gene syndrome (22q11 microdeletion, known teratogens, with the rest associations being multifactorial. This study was carried out to determine the clinical profile and associated risk factors in patients with TOF admitted for surgical repairs. METHODS: Case files of all patients admitted for Tetralogy of Fallot over a period of one year were retrieved from the Medical Records Department and reviewed. Data on the patients' and their family history and associated cardiac anomalies were noted. RESULTS: There were 54 patients, 37 males and 17 females, with a mean age of 6.8 years +/- 7.1. Sixty percent were born between July and December, 81.5% as full term and 44% as first born. Twenty-six percent were born into consanguineous marriages. Five patients had dysmorphic features. Associated cardiac anomalies included right aortic arch, pulmonary atresia, dextrocardia and left superior vena cavae. CONCLUSION: The associated risk factors noted in this study were male sex, birthdates between July and December, first born and increased paternal age. Other risk factors were consanguinity and specific patterns of cardiovascular diseases associated with 22q 11 deletions. This suggests a multifactorial etiology for TOF. Keywords: associated risk factors, cardiac anomalies, demographic factors, Tetralogy of Fallot

  17. Tetralogy of Fallot and atrial septal defect in a white Bengal Tiger cub (Panthera tigris tigris)

    OpenAIRE

    Pazzi, Paolo; Lim, Chee K; Steyl, Johan

    2014-01-01

    A 3-week-old female white Bengal Tiger cub (Panthera tigris tigris) presented with acute onset tachypnoea, cyanosis and hypothermia. The cub was severely hypoxaemic with a mixed acid–base disturbance. Echocardiography revealed severe pulmonic stenosis, right ventricular hypertrophy, high membranous ventricular septal defect and an overriding aorta. Additionally, an atrial septal defect was found on necropsy, resulting in the final diagnosis of Tetralogy of Fallot with an atrial septal defect ...

  18. A newborn with trisomy 13 who had tetralogy of Fallot and metopic synostosis: Case report.

    Science.gov (United States)

    Karabel, M; Yolbaş, I; Kelekçi, S; Sen, V; Haspolat, Yk; Timuroğlu, L

    2013-07-01

    Trisomy 13 (Patau syndrome) was first described by Patau et al in 1960. It is characterized by serious head, facial, and extremity anomalies, congenital heart defects, and mental abnormalities. The incidence rate of Trisomy 13 is 1/10.000 live births. Accompanying symptoms and findings vary in rate and severity among the cases. Tetralogy of Fallot and metopic synostosis are very rare abnormalities in patients with Trisomy 13. In this study, we aimed to present a newborn girl with trisomy 13 who had multiple congenital malformations accompanied by tetralogy of Fallot and metopic synostosis. Description of the case: The patient was delivered at 40 weeks of gestation, and admitted to the neonatal intensive care unit due to respiratory distress and physical abnormalities. The newborn examination revealed multiple dysmorphic features. She had boot-shaped appearance on the chest radiograph. Chromosome analysis demonstrated mosaic trisomy 13. Patients with trisomy 13 may have different type of gene variations and malformations; however, the most common type of gene variation is classic trisomy 47, XX +13, and the most common malformations are facial anomalies and congenital heart defects. In addition, tetralogy of Fallot and metopic synostosis may accompany trisomy 13.

  19. Magnetic resonance imaging pre- and postoperative evaluation of tetralogy of Fallot; Avaliacao pre e pos-operatoria da tetralogia de Fallot por ressonancia magnetica

    Energy Technology Data Exchange (ETDEWEB)

    Bernardes, Renata Junqueira Moll; Simoes, Luiz Carlos [Instituto Nacional de Cardiologia (INC), Rio de Janeiro, RJ (Brazil). Servico de Cardiologia da Crianca e do Adolescente; Marchiori, Edson [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Faculdade de Medicina. Dept. de Radiologia]. E-mail: edmarchiori@bol.com.br; Bernardes, Paulo Manuel de Barros; Gonzaga, Maria Beatriz Albano Monzo [Rede Labs/D' Or, Rio de Janeiro, RJ (Brazil)

    2004-08-01

    The purpose of this study was to assess the usefulness of magnetic resonance imaging (MRI) in the pre- and postoperative evaluation of patients with tetralogy of Fallot. Twenty patients aged 1 to 29 years were prospectively evaluated with black-blood and contrast-enhanced angiographic techniques, 11 with the classic form of tetralogy of Fallot and 9 with tetralogy of Fallot and pulmonary atresia. MRI studies provided adequate visualization of the aorta that was classified as dilated or not dilated, and definition of its position in all cases. The use of contrast-enhanced MR angiographic techniques provided excellent imaging of the main right and left pulmonary arteries. The results suggest that MRI, including contrast-enhanced angiography techniques, is a useful tool in the evaluation of patients with tetralogy of Fallot before and after cardiac surgery since it provides important anatomical information that is not always obtained with echocardiography. MRI can be considered an alternative to cardiac catheterization, particularly in the evaluation of the pulmonary vascular anatomy. (author)

  20. A unique case of two sources of right ventricle enlargement in tetralogy of Fallot.

    Science.gov (United States)

    Bradley, Elisa A; Bachuwar, Alok; Ludbrook, Philip A

    2013-01-01

    The most common long-term sequelae of tetralogy of Fallot (TOF) are related to acquired late postsurgical pulmonary valve pathology. This is often in the form of pulmonic insufficiency (PI) ultimately leading to right ventricular (RV) enlargement and failure, which may necessitate pulmonary valve replacement. We present a case of severe PI in TOF with an incidental large circumflex to RV fistula and single-vessel coronary artery stenosis in a patient with an enlarged RV. The diagnostic dilemma was to determine whether the RV enlargement was caused by severe PI, shunting from the coronary fistula, or a combination of both.

  1. FDG-PET identification of infected pulmonary artery conduit following tetralogy of fallot (TOF) repair

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Yu Yang; Williams, Hadyn; Pucar, Darko [Dept. of Radiology, Medical College of Georgia, Augusta (United States)

    2017-03-15

    Tetralogy of Fallot (TOF) is one of the most common forms of cyanotic congenital heart disease usually managed by serial surgical repairs. The repaired prosthetic valve or conduit is susceptible to life-threatening infection. FDG-PET is an effective alternative to evaluate the source of infection when other examinations are inconclusive. We report an unusual case of an infected pulmonary artery conduit after TOF repair although the echocardiogram was negative for vegetation, which was later confirmed by surgery and pathology. The case highlights the role of FDG-PET as a problem-solving tool for potential endocarditis and cardiac device infection cases after complex cardiac surgery.

  2. Tetralogy of Fallot and pheochromocytoma in a situs inversus totalis: An unusual association

    Directory of Open Access Journals (Sweden)

    Rubén Kevin Arnold Tapia Orihuela

    2016-09-01

    Full Text Available Introduction: Situs inversus totalis is an uncommon anomaly which exist a complete transposition of organs and it’s occasionally associated with congenital heart diseases, such as tetralogy of fallot. Pheochromocytoma is a rare neuroendocrine tumor with an annual incidence of 2-8 cases per million people and for years has been studied its relationship with the hypoxic pathway. Case Report: A 29 year old male with a history of tetralogy of fallot corrected at 10 years and situs inversus totalis. He was admitted to hospital with a progressive story of four months of constipation, palpitations, headache, dyspnea and sweating. Physical examination revealed a thinned man with peripheral cyanosis, clubbing and signs of decompensated congestive heart failure as hepatomegaly, legs edema, multifocal systodiastolic murmurs, abdominal distension and jugular venous distention. The echocardiogram shows severe right ventricular dysfunction and severe pulmonary hypertension. Furthermore, abdominal computed tomography shows right adrenal mass. Elevated metanephrines and catecholamines confirmed the diagnosis of pheochromocytoma. Surgical removal is decided and preoperative management begins with alpha-adrenergic blockade, however the patient had a hemodynamic decompensation with an unfavorable evolution. Discussion: In conclusion, there are few reports of cyanotic congenital heart disease with pheochromocytoma. Several studies show a significant association between both of them due to chronic hypoxia leads sustained hyperresponsiveness in adrenal medulla and it would cause the tumor. Special preoperative management of pheochromocytoma is recommended when there underlying heart disease and congestive heart failure. We present the first international report of tetralogy of fallot and pheochromocytoma in a patient with situs inversus totalis.

  3. Peeping through heart′s window: A case report of Fallots tetralogy

    Directory of Open Access Journals (Sweden)

    Bhowate R

    2005-03-01

    Full Text Available Tetralogy of Fallot is a congenital heart defect. A combination of four abnormalities in heart allow oxygen rich and oxygen-depleted blood to mix. The resulting low-oxygen blood then circulates through the body. A child with the condition tends to develop slowly, eat poorly and grow slowly and may experience "blue" spells on crying and dyspnea on exertion. A 12 year old child with this congenital heart defect and cleft palate with cleft lip is discussed. Details of the latest diagnostic and treatment procedures are also presented.

  4. Health related quality of life in adults with repaired tetralogy of Fallot: psychosocial and cognitive outcomes.

    Science.gov (United States)

    Daliento, L; Mapelli, D; Russo, G; Scarso, P; Limongi, F; Iannizzi, P; Melendugno, A; Mazzotti, E; Volpe, B

    2005-02-01

    To assess the health related quality of life of patients who were operated on during childhood for total correction of tetralogy of Fallot, focusing on the psychosocial and cognitive outcomes. 54 patients (24 men and 30 women, mean (SD) age 32 (4) years), operated on for total correction of tetralogy of Fallot at mean age of 8.2 years, underwent a cardiological examination, psychological assessment (semistructured interview, Minnesota multiphasic personality inventory), evaluation of quality of life (36 item short form health survey), and neuropsychological assessment with an extensive neuropsychological battery of tests. Psychological characteristics-(1) a lower than normal academic level, (2) a job inadequate for educational level, (3) a preference for an overprotective familiar setting, and (4) a difficulty communicating own corporal image. Denial of the cardiopathy was found to be a common behaviour to normalise functioning. Very few patients had a deficit in memory, learning, or attention functions; rather, patients had a deficit in the executive functions, problem solving, and planning strategies. Despite a satisfactory health related quality of life, there are residual psychological and social problems in addition to impaired cognitive outcomes in the presence of a normal intelligence quotient.

  5. Ruptured sinus of Valsalva found incidentally in a patient with tetralogy of Fallot.

    Science.gov (United States)

    Mithani, Ali A; Polimenakos, Anastasios C; Santucci, Barbara A

    2013-01-01

    Ruptured sinus Valsalva aneurysm (SVA) in a patient with tetralogy of Fallot is a very rare cardiac complication. This report describes the case of a 10-year-old Hispanic girl who presented to her cardiologist for a routine transthoracic echocardiography (TTE), which showed a ruptured sinus of Valsalva, with left-to-right shunting noted from the right cusp to the right ventricular outflow tract and pulmonic insufficiency. The patient underwent right and left heart catheterization with transesophageal echocardiography guidance and closure of the ruptured sinus of Valsalva with an Amplatzer muscular ventricular septal defect (VSD) device. Later that day, after the procedure, it was noted that the patient had a recurrence of continuous murmur. The TTE did not visualize the Amplatzer VSD device, and chest X-ray showed that the device had embolized to the right pulmonary artery. The device was successfully retrieved percutaneously. The patient returned 2 weeks later for surgical repair of a ruptured SVA and pulmonary valve replacement, which went well. This case report is the first to describe congenital rupture of a Valsalva aneurysm in a patient with tetralogy of Fallot. The conventional treatment for a ruptured sinus of Valsalva is surgical, although transcatheter approaches have been used increasingly in recent years.

  6. Simultaneous repair of pectus excavatum and pulmonary valve implantation years after complete repair of tetralogy of Fallot.

    Science.gov (United States)

    Tuncer, Eylem; Vuran, Ali Can; Ozyuksel, Arda; Yeginsu, Ali; Ceyran, Hakan

    2017-02-01

    Although pectus excavatum is a common congenital abnormality of the chest wall, its coexistence with congenital heart defects is rarely encountered. In this report, we present a young adult who was re-operated for pulmonary valve regurgitation and pectus excavatum years after complete repair of tetralogy of Fallot. The surgical challenge and pitfalls are discussed along with a brief review of the literature.

  7. Oral and systemic manifestations, and dental management of a pediatric patient with Tetralogy of Fallot. A case report.

    Directory of Open Access Journals (Sweden)

    Carmen Ayala

    2016-03-01

    Full Text Available Introduction: Tetralogy of Fallot is a congenital heart disease and the most common cyanotic heart defect in children. It is clinically characterized by a ventricular septal defect, pulmonary stenosis, overriding aorta over ventricular septal defect and right ventricular hypertrophy. There is little or no information about the oral manifestations in patients with this pathology. A report and discussion of a pediatric patient diagnosed with Tetralogy of Fallot, its clinical manifestations, oral findings and dental management are presented. Case Report: A four-year-old male patient diagnosed with Tetralogy of Fallot and epileptic attacks. The patient has deciduous teeth with many severe early childhood caries, stomatitis and cyanotic mucous membranes, root fragments, periapical abscess and noticeable enamel hypoplasia. Conclusions: In agreement with other authors, children with systemic diseases such as Tetralogy of Fallot have a higher rate of caries, poor oral hygiene, high susceptibility to other infections and bacterial endocarditis, cyanotic mucous membranes and enamel hypoplasia. Primary prevention is critical, proper dental hygiene, regular dental check-ups and the use of antibiotic prophylaxis are particularly important, especially in high-risk patients.

  8. Prophylactic amiodarone reduces junctional ectopic tachycardia after tetralogy of Fallot repair.

    Science.gov (United States)

    Imamura, Michiaki; Dossey, Amy M; Garcia, Xiomara; Shinkawa, Takeshi; Jaquiss, Robert D B

    2012-01-01

    Junctional ectopic tachycardia is common after pediatric heart surgery. After tetralogy of Fallot repair, the incidence of junctional ectopic tachycardia may be as high as 15% to 20%. We introduced prophylactic amiodarone for tetralogy repair. This study was conducted to evaluate the effectiveness of the prophylactic amiodarone. A continuous infusion of amiodarone was started in the operating room at the time of rewarming during cardiopulmonary bypass at a rate of 2 mg/kg/d and continued for 48 hours. Between November 2005 and November 2009, 63 consecutive patients underwent primary repair of tetralogy, of whom 20 had prophylactic amiodarone (amiodarone group) and 43 did not (control group). Variables studied included demographic and bypass data, surgical procedure details (transannular or nontransannular patch), preoperative and postoperative echocardiography findings, and postoperative inotropic support. Univariate and stepwise multivariate analyses were conducted to determine factors associated with the occurrence of junctional ectopic tachycardia. The incidence of junctional ectopic tachycardia was 37% in the control group and 10% in the amiodarone group. The groups were similar in age, weight, bypass time, rate of transannular patch usage, and preoperative and postoperative gradient through the right ventricular outflow tract. Prophylactic amiodarone was significantly negatively associated with junctional ectopic tachycardia by both univariate (P = .039) and multivariate (P = .027) analyses. There were no adverse events attributable to prophylactic amiodarone use. Prophylactic amiodarone is well tolerated and significantly associated with a decreased incidence of junctional ectopic tachycardia after tetralogy repair. Copyright © 2012 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

  9. [Hypoplasia of trachea with tracheal bronchus as a complication of surgical correction of tetralogy of Fallot].

    Science.gov (United States)

    Tláskal, T; Vojtovic, P; Bartáková, H; Marková, M; Kabelka, Z

    2004-01-01

    A 10 months old infant underwent repair of tetralogy of Fallot with hypoplastic annulus of the pulmonary valve, diminutive pulmonary arteries, right aortic arch and left superior vena cava. The right ventricular outflow tract was reconstructed using a monocusp patch. The postoperative course was unfavourably influenced by respiratory complications due to tracheal bronchus and hypoplasia of trachea, which were not diagnosed preoperatively. Extreme emphysema of the right upper and middle lobes compromised haemodynamics. Repeated reoperations were required. The upper and the middle lobes of the right lung had to be resected, the hypoplastic trachea reconstructed with a pericardial patch and pulmonary homograft inserted. One year later, homograft had to be replaced and tricuspid annuloplasty performed for pulmonary and tricuspid regurgitation and right ventricular dilatation as a consequence of increased pulmonary artery pressure. Three years after the original surgery the patient remains in good clinical condition.

  10. Pulmonary Valve Replacement With Fresh Decellularized Pulmonary Allograft for Pulmonary Regurgitation After Tetralogy of Fallot Repair – First Case Report in Japan

    National Research Council Canada - National Science Library

    Ueno, Takayoshi; Ozawa, Hideto; Taira, Masaki; Kanaya, Tomomitsu; Toda, Koichi; Kuratani, Toru; Sawa, Yoshiki

    2016-01-01

    .... However, an improved prosthetic valve is required.Methods and Results:A fresh decellularized pulmonary allograft was used for PVR to correct pulmonary valve regurgitation in a 35-year-old man 33 years following tetralogy of Fallot repair...

  11. Recent Development in Pulmonary Valve Replacement after Tetralogy of Fallot Repair: The Emergence of Hybrid Approaches.

    Science.gov (United States)

    Suleiman, Tariq; Kavinsky, Clifford J; Skerritt, Clare; Kenny, Damien; Ilbawi, Michael N; Caputo, Massimo

    2015-01-01

    An increasing number of patients with tetralogy of Fallot require repeat surgical intervention for pulmonary valve replacement secondary to pulmonary regurgitation. Catheter-based interventions have emerged as an attractive alternative to surgery in this patient population but it is limited by patient size or the anatomy of the right ventricular outflow tract. Hybrid approaches involving both cardiac interventionists and surgeons are being developed to overcome these limitations. The purpose of this review is to highlight the recent advances in the hybrid field of pulmonary valve replacement, summarizing the advantages and disadvantages of the "traditional" surgical and the new catheter-based techniques and discuss the direction future research should take to determine the optimal management for individual patients.

  12. Multipel graviditet hos kvinder med korrigeret Steno-Fallots tetralogi

    DEFF Research Database (Denmark)

    Pedersen, Lia Mendes; Pedersen, Thais Andreas Bjerregaard; Herskind, Anne Maria

    2008-01-01

    Tetralogy of Fallot is the most common cyanotic heart disease accounting for 5 to 8% of all cases of congenital heart disease. In a cohort of women with corrected Tetralogy of Fallot, followed concerning fertility and pregnancy outcome, we observed two cases of uncomplicated multiple pregnancies....... Such pregnancies have not previously been described. Despite the overload on the operated heart resulting from a multiple pregnancy, both women experienced uncomplicated pregnancies and deliveries of healthy children. This reflects the good hemodynamic results of complete repair and meticulous pregnancy follow-up....

  13. Multipel graviditet hos kvinder med korrigeret Steno-Fallots tetralogi

    DEFF Research Database (Denmark)

    Pedersen, Lia Mendes; Pedersen, Thais A; Herskind, Anne Maria

    2008-01-01

    Tetralogy of Fallot is the most common cyanotic heart disease accounting for 5 to 8% of all cases of congenital heart disease. In a cohort of women with corrected Tetralogy of Fallot, followed concerning fertility and pregnancy outcome, we observed two cases of uncomplicated multiple pregnancies....... Such pregnancies have not previously been described. Despite the overload on the operated heart resulting from a multiple pregnancy, both women experienced uncomplicated pregnancies and deliveries of healthy children. This reflects the good hemodynamic results of complete repair and meticulous pregnancy follow...

  14. Revisiting the utility of technical performance scores following tetralogy of Fallot repair.

    Science.gov (United States)

    Lodin, Daud; Mavrothalassitis, Orestes; Haberer, Kim; Sunderji, Sherzana; Quek, Ruben G W; Peyvandi, Shabnam; Moon-Grady, Anita; Karamlou, Tara

    2017-08-01

    Although an important quality metric, current technical performance scores may not be generalizable and may omit operative factors that influence outcomes. We examined factors not included in current technical performance scores that may contribute to increased postoperative length of stay, major complications, and cost after primary repair of tetralogy of Fallot. This is a retrospective single site study of patients younger than age 2 years with tetralogy of Fallot undergoing complete repair between 2007 and 2015. Medical record data and discharge echocardiograms were reviewed to ascertain component and composite technical performance scores. Primary outcomes included postoperative length of stay, major complications, and total hospital costs. Multivariable logistic and linear regression identified determinants of each outcome. Patient population (n = 115) had a median postoperative length of stay of 8 days (interquartile range, 6-10 days), and a median total cost of $71,147. Major complications occurred in 33 patients (29%) with 1 death. Technical performance scores assigned were optimum in 28 patients (25%), adequate in 59 patients (52%), and inadequate in 26 patients (23%). Neither technical performance score components nor composite scores were associated with increased postoperative length of stay. Optimum or adequate repairs versus inadequate had equal risk of a complication (P = .79), and equivalent mean total cost ($100,000 vs $187,000; P = .25). Longer cardiopulmonary bypass time per 1-minute increase (P technical performance scores were not associated with selected outcomes in our postoperative population. Although returning to bypass and bypass length are not included as components in the current score, these are important factors influencing complications and resource use in our population. Revisions anticipated from a prospective trial should consider including these variables. Copyright © 2017 The American Association for Thoracic Surgery

  15. "Repaired" tetralogy of fallot mimicking arrhythmogenic right ventricular cardiomyopathy (another phenocopy).

    Science.gov (United States)

    George, Betsy Ann; Ko, Jong Mi; Lensing, Forrester Dubus; Kuiper, Johannes Jacob; Roberts, William Clifford

    2011-07-15

    Described is a 41-year-old man who at age 6 had partial resection of an obstructed right ventricular outflow tract with insertion of a patch and closure of a ventricular septal defect (tetralogy of Fallot). At age 41, cardiac transplantation was performed because of right ventricular outflow patch aneurysm, numerous episodes of ventricular tachycardia, and chronic heart failure, all features of the familial form of arrhythmogenic right ventricular cardiomyopathy (ARVC). Additionally, the patient had bundle branch block and epsilon waves on electrocardiogram, other features of ARVC. The case is described to introduce the concept of acquired ARVC, because the patient had many of the clinically recognized features of familial ARVC. Copyright © 2011 Elsevier Inc. All rights reserved.

  16. Use of Cardiac Computed Tomography for Ventricular Volumetry in Late Postoperative Patients with Tetralogy of Fallot

    Directory of Open Access Journals (Sweden)

    Ho Jin Kim

    2017-04-01

    Full Text Available Background: Cardiac computed tomography (CT has emerged as an alternative to magnetic resonance imaging (MRI for ventricular volumetry. However, the clinical use of cardiac CT requires external validation. Methods: Both cardiac CT and MRI were performed prior to pulmonary valve implantation (PVI in 11 patients (median age, 19 years who had undergone total correction of tetralogy of Fallot during infancy. The simplified contouring method (MRI and semiautomatic 3-dimensional region-growing method (CT were used to measure ventricular volumes. Results: All volumetric indices measured by CT and MRI generally correlated well with each other, except for the left ventricular end-systolic volume index (LV-ESVI, which showed the following correlations with the other indices: the right ventricular end-diastolic volume index (RV-EDVI (r=0.88, p<0.001, the right ventricular end-systolic volume index (RV-ESVI (r=0.84, p=0.001, the left ventricular end-diastolic volume index (LV-EDVI (r=0.90, p=0.001, and the LV-ESVI (r=0.55, p=0.079. While the EDVIs measured by CT were significantly larger than those measured by MRI (median RV-EDVI: 197 mL/m 2 vs. 175 mL/m 2 , p=0.008; median LV-EDVI: 94 mL/m 2 vs. 92 mL/m 2 , p=0.026, no significant differences were found for the RV-ESVI or LV-ESVI. Conclusion: The EDVIs measured by cardiac CT were greater than those measured by MRI, whereas the ESVIs measured by CT and MRI were comparable. The volumetric characteristics of these 2 diagnostic modalities should be taken into account when indications for late PVI after tetralogy of Fallot repair are assessed.

  17. Diffuse myocardial fibrosis following tetralogy of Fallot repair: a T1 mapping cardiac magnetic resonance study

    Energy Technology Data Exchange (ETDEWEB)

    Kozak, Marcelo F.; Yoo, Shi-Joon; Seed, Mike; Grosse-Wortmann, Lars [The Hospital for Sick Children, University of Toronto, Labatt Family Heart Centre in the Department of Paediatrics and Department of Diagnostic Imaging, Toronto (Canada); Redington, Andrew [The Hospital for Sick Children, University of Toronto, Labatt Family Heart Centre in the Department of Paediatrics, Toronto (Canada); Greiser, Andreas [Siemens AG Healthcare Sector, Erlangen (Germany)

    2014-04-15

    Adverse ventricular remodeling after tetralogy of Fallot (TOF) repair is associated with diffuse myocardial fibrosis. The goal of this study was to measure post-contrast myocardial T1 in pediatric patients after TOF repair as surrogates of myocardial fibrosis. Children after TOF repair who underwent cardiac magnetic resonance imaging with T1 mapping using the modified look-locker inversion recovery (MOLLI) sequence were included. In addition to routine volumetric and flow data, we measured post-contrast T1 values of the basal interventricular septum, the left ventricular (LV) lateral wall, and the inferior and anterior walls of the right ventricle (RV). Results were compared to data from age-matched healthy controls. The scans of 18 children who had undergone TOF repair and 12 healthy children were included. Post-contrast T1 values of the left ventricular lateral wall (443 ± 54 vs. 510 ± 77 ms, P = 0.0168) and of the right ventricular anterior wall (333 ± 62 vs. 392 ± 72 ms, P = 0.0423) were significantly shorter in children with TOF repair than in controls, suggesting a higher degree of fibrosis. In children with TOF repair, but not in controls, post-contrast T1 values were shorter in the right ventricle than the left ventricle and shorter in the anterior wall of the right ventricle than in the inferior segments. In the TOF group, post-contrast T1 values of the RV anterior wall correlated with the RV end-systolic volume indexed to body surface area (r = 0.54; r{sup 2} = 0.30; P = 0.0238). In children who underwent tetralogy of Fallot repair the myocardium of both ventricles appears to bear an abnormally high fibrosis burden. (orig.)

  18. [Tetralogy of Fallot with anomalous origin of unilateral pulmonary artery].

    Science.gov (United States)

    Endo, M; Haneda, K; Suzuki, Y; Mohri, H; Yamaki, S

    1991-02-01

    Between 1971 and 1988, 7 patients (pts) of TOF with anomalous origin of unilateral pulmonary artery (AOPA) underwent intracardiac repair at Tohoku University Hospital. They were 2 males and 5 females, with ages ranging from 4 to 26 years old. The right PA originated from the RV in all cases, whereas the left PA originated from the ascending aorta in 2 pts (Group 1) and from the ductus arteriosus in 5 pts (Group 2 & 3). In Group 2 (2 pts), the left PA was separated from the right PA with intraluminal membrane. In Group 3 (3 pts), there was no communication between both pulmonary arteries. The left PA was reconstructed in Group 1 & 2. However, it was impossible to reconstruct the left PA in Group 3 since the ductus arteriosus and left PA had been occluded before intracardiac repair. In Group 3, VSD was closed with one-way (RV----LV) valved patch for the aim of lowering RV pressure. Postoperative RV/Ao pressure ratio was 0.5-0.8 in the cases of Group 1 & 2, 0.8-1.0 in Group 3. Three patients (one in each group) died postoperatively due to low output syndrome. Autopsy revealed pulmonary vascular obstructive disease (PVOD) of the left lung in Group 1. It is concluded that TOF with AOPA should be corrected before the advance of PVOD in case PA originate from the ascending aorta, and before the occlusion of the ductus in case PA originate from it, in order to prevent postoperative RV overload.

  19. Pulmonary valve replacement in patients with corrected tetralogy of Fallot

    Directory of Open Access Journals (Sweden)

    Fotios M. Mitropoulos

    2017-06-01

    Results: There were 2 perioperative deaths (2%. One patient developed sternal dehiscence requiring rewiring. Median ICU and hospital stay was 1 and 7 days respectively. Postoperative echocardiography at 6 and 12 months showed excellent bioprosthetic valve performance, significant decrease in size of the right cardiac chambers and reduction of tricuspid regurgitation (TR in the majority of the patients. At mean follow-up of 3.6 ± 2 years, all surviving patients remain in excellent clinical condition. Conclusion: Probability of reoperation for pulmonary insufficiency in patients with surgically corrected TOF increases with time and timely PVR by preventing the development of right heart failure is crucial for long-term survival. Current bioprosthetic valve technology in combination with the beating heart technique provides excellent immediate and short-term results. Further follow-up is necessary to evaluate long-term outcome.

  20. Heart failure complicating tetralogy of Fallot | Ogunkunle | West ...

    African Journals Online (AJOL)

    West African Journal of Medicine. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 23, No 1 (2004) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Download this PDF file. The PDF file you selected should ...

  1. Usage of 3D models of tetralogy of Fallot for medical education: impact on learning congenital heart disease.

    Science.gov (United States)

    Loke, Yue-Hin; Harahsheh, Ashraf S; Krieger, Axel; Olivieri, Laura J

    2017-03-11

    Congenital heart disease (CHD) is the most common human birth defect, and clinicians need to understand the anatomy to effectively care for patients with CHD. However, standard two-dimensional (2D) display methods do not adequately carry the critical spatial information to reflect CHD anatomy. Three-dimensional (3D) models may be useful in improving the understanding of CHD, without requiring a mastery of cardiac imaging. The study aimed to evaluate the impact of 3D models on how pediatric residents understand and learn about tetralogy of Fallot following a teaching session. Pediatric residents rotating through an inpatient Cardiology rotation were recruited. The sessions were randomized into using either conventional 2D drawings of tetralogy of Fallot or physical 3D models printed from 3D cardiac imaging data sets (cardiac MR, CT, and 3D echocardiogram). Knowledge acquisition was measured by comparing pre-session and post-session knowledge test scores. Learner satisfaction and self-efficacy ratings were measured with questionnaires filled out by the residents after the teaching sessions. Comparisons between the test scores, learner satisfaction and self-efficacy questionnaires for the two groups were assessed with paired t-test. Thirty-five pediatric residents enrolled into the study, with no significant differences in background characteristics, including previous clinical exposure to tetralogy of Fallot. The 2D image group (n = 17) and 3D model group (n = 18) demonstrated similar knowledge acquisition in post-test scores. Residents who were taught with 3D models gave a higher composite learner satisfaction scores (P = 0.03). The 3D model group also had higher self-efficacy aggregate scores, but the difference was not statistically significant (P = 0.39). Physical 3D models enhance resident education around the topic of tetralogy of Fallot by improving learner satisfaction. Future studies should examine the impact of models on teaching CHD that

  2. MRI for therapy control in patients with tetralogy of Fallot; MRT zur Therapiekontrolle bei Patienten mit Fallot-Tetralogie

    Energy Technology Data Exchange (ETDEWEB)

    Theisen, D.; Reiser, M.F. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Institut fuer Klinische Radiologie, Muenchen (Germany); Dalla Pozza, R.D. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Abteilung fuer Kinderkardiologie und Paediatrische Intensivmedizin, Kinderherzzentrum, Muenchen (Germany); Malec, E. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Herzchirurgische Klinik, Kinderherzzentrum, Muenchen (Germany)

    2011-01-15

    With prevalences ranging from 0.26 to 0.8 permille of all live births tetralogy of Fallot (TOF) is the most common congenital heart disease with primary cyanosis. Due to improvements in surgical techniques, nearly all patients can nowadays expect to reach adulthood. After surgical repair, pulmonary regurgitation (PR) occurs in almost every child and is an important contributing factor in long-term morbidity and mortality. Cardiac magnetic resonance imaging is well established for functional assessment and flow measurements and is an ideal tool for serial post-surgical follow-up examinations, as it is non-invasive and does not expose patients to ionizing radiation. The timing of pulmonary valve replacement is crucial as right ventricular (RV) volumes have only proven to normalize when preoperative end-diastolic volumes are <170 ml/m{sup 2} and end-systolic volumes are <85 ml/m{sup 2}. After surgical repair up to 15% of patients have residual or recurrent pulmonary artery stenosis. Distal pulmonary branch stenosis can aggravate PR and lead to right heart failure due to combined pressure and volume overload. Therefore, it has to be diagnosed in time and treated by angioplasty with or without stenting. (orig.) [German] Die Fallot-Tetralogie (TOF) ist mit einer Praevalenz zwischen 0,26 und 0,8 permille aller Lebendgeburten der haeufigste Herzfehler mit primaerer Zyanose. Durch verbesserte Operationstechniken erreichen heute nahezu alle Patienten das Erwachsenenalter. Bei fast allen Patienten tritt eine postoperative Pulmonalinsuffizienz (PI) auf, die entscheidenden Einfluss auf die langfristige Morbiditaet und Mortalitaet hat. Die kardiale Magnetresonanztomographie (MRT) ist fuer Quantifizierung von Ventrikelfunktion und Klappeninsuffizienzen etabliert und aufgrund ihrer fehlenden Invasivitaet und Strahlenexposition sehr gut fuer regelmaessige Verlaufskontrollen der heranwachsenden Patienten geeignet. Insbesondere der Zeitpunkt fuer einen Pulmonalklappenersatz darf

  3. Right ventricular function after repair of tetralogy of Fallot: a comparison between bovine pericardium and porcine small intestinal extracellular matrix.

    Science.gov (United States)

    Naik, Ronak; Johnson, Jason; Kumar, T K S; Philip, Ranjit; Boston, Umar; Knott-Craig, Christopher J

    2017-05-29

    The porcine small intestinal extracellular matrix reportedly has the potential to differentiate into viable myocardial cells. When used in tetralogy of Fallot repair, it may improve right ventricular function. We evaluated right ventricular function after repair of tetralogy of Fallot with extracellular matrix versus bovine pericardium. Subjects with non-transannular repair of tetralogy of Fallot with at least 1 year of follow-up were selected. The extracellular matrix and bovine pericardium groups were compared. We used three-dimensional right ventricular ejection fraction, right ventricle global longitudinal strain, and tricuspid annular plane systolic excursion to assess right ventricular function. The extracellular matrix group had 11 patients, whereas the bovine pericardium group had 10 patients. No differences between the groups were found regarding sex ratio, age at surgery, and cardiopulmonary bypass time. The follow-up period was 28±12.6 months in the extracellular matrix group and 50.05±17.6 months in the bovine pericardium group (p=0.001). The mean three-dimensional right ventricular ejection fraction (55.7±5.0% versus 55.3±5.2%, p=0.73), right ventricular global longitudinal strain (-18.5±3.0% versus -18.0±2.2%, p=0.44), and tricuspid annular plane systolic excursions (1.59±0.16 versus 1.59±0.2, p=0.93) were similar in the extracellular matrix group and in the bovine pericardium group, respectively. Right ventricular global longitudinal strain in healthy children is reported at -29±3% in literature. In a small cohort of the patients undergoing non-transannular repair of tetralogy of Fallot, there was no significant difference in right ventricular function between groups having extracellular matrix versus bovine pericardium patches followed-up for more than 1 year. Lower right ventricular longitudinal strain noted in both the groups compared to healthy children.

  4. Restrictive enlargement of the pulmonary annulus at repair of tetralogy of Fallot: a comparative 10-year follow-up study.

    Science.gov (United States)

    Logoteta, Jana; Dullin, Lars; Hansen, Jan Hinnerk; Rickers, Carsten; Salehi Ravesh, Mona; Al Bulushi, Abdullah; Kristo, Ines; Wegner, Philip; Schumacher, Michael; Attmann, Tim; Scheewe, Jens; Kramer, Hans-Heiner

    2017-12-01

    Since 1996, our centre performs restrictive enlargement of the pulmonary annulus at surgical repair of tetralogy of Fallot. A transannular patch is only used if the z-score of the pulmonary annulus is smaller than -2. We sought to determine whether this strategy reduces pulmonary insufficiency (PI) and reoperation rate compared to a nationwide contemporary cohort that has not been operated using a uniform strategy. Eighty-seven tetralogy of Fallot patients were included in the study (Group 1). One hundred sixty-seven tetralogy of Fallot patients from the Competence Network for Congenital Heart Disease served as controls (Group 2). Clinical, echocardiographic, electrocardiogram, cardiovascular magnetic resonance and outcome data were analysed. Follow-up time since repair was not different between groups [12.9 (7.8-18.8) vs 13.1 (5.2-16.9) years, P = 0.96] while transannular patch rate was significantly lower in Group 1 (32.2% vs 64.7%, P URL: http://apps.who.int/trialsearch/Trial2.aspx?TrialID=DRKS00010087.

  5. Combined hepatocellular-cholangiocarcinoma in a patient with Abernethy malformation and tetralogy of Fallot: A case report.

    Science.gov (United States)

    Happaerts, Sofie; Foucault, Amélie; Billiard, Jean Sébastien; Nguyen, Bich; Vandenbroucke-Menu, Franck

    2016-11-01

    Abernethy malformation is a rare congenital anomaly of the portal vein where the portal blood bypasses the liver. We report the first case of a patient with Abernethy malformation and tetralogy of Fallot associated with nodular regenerative hyperplasia and focal nodular hyperplasia (FNH), which finally evolved to a giant hepatocellular-cholangiocarcinoma (HCC-CC) of the liver, successfully resected. (Hepatology 2016;64:1800-1802). © 2016 by the American Association for the Study of Liver Diseases.

  6. Partial anomalous left pulmonary artery with associated bronchial anomalies in a patient with repaired Tetralogy of Fallot.

    Science.gov (United States)

    Mathias, Helen C; Manghat, Nathan E

    2012-01-01

    We present a 28 year old man with repaired Tetralogy of Fallot who underwent CT imaging prior to pulmonary valve replacement. CT demonstrated a partial anomalous LPA with associated bronchial anomalies and normal variant pulmonary venous drainage. The case demonstrates the utility of multislice CT in delineating 3-dimensional vascular and bronchial anatomy in these complex anomalies. Copyright © 2012 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

  7. Arrhythmias and conduction abnormalities in children after repair of tetralogy of Fallot

    Directory of Open Access Journals (Sweden)

    Kuzevska-Maneva Konstandina

    2005-01-01

    Full Text Available Aim. To find out types and frequency of cardiac arrhythmias and conduction abnormalities in the group of children who underwent surgery for tetralogy of Fallot (TOF. Methods. Fortysix pedicatric patients who underwent a complete repair of TOF at the age of 1 to 13 (mean 2.89 ± 2.36 were studied. Thirty-eight (82.60% had total correction and 8 (17.40% had palliative operation first, and total correction afterwards. Twenty-four-hour Holter ECG monitoring was performed in all 46 pediatric patients aged from 1 to 16 yrs (mean 6.48 ± 4.04 after surgery as follows: in 1 patient (2.17% after a year, in 20 patients (43.47% after 2 to 5 years and in 25 patients (54.34% after 5 years. Mean age of patients on Holter monitoring was 9.25 ± 4.39 (range 4−19. Twenty of them (43.47% were girls and 28 (56.53% were boys. All the patients were evaluated by standard methods (clinical signs, clinical findings, ECG before surgery, ECG before Holter monitoring and 2D Doppler echocardiography. Results. Types of heart rhythm found out by Holter monitoring were: sinus nodus dysfunction in 1 child (2.17%, significant premature atrial contraction (PAC in 8 (17.39%, supraventricular paroxysmal tachycardia in 3 (6.53%, transient nodal rhythm in 2 (4.34%, premature ventricular contraction (PVC Lown grade I-III in 9 (19.56% and Lown grade IV in 2 (4.34, atrioventricular (AV block grade I in 2, right bundle branch block (RBBB in all 46 (100% and RBBB + left anterior hemiblock (LAH in 4 (8.96%. There was no presence of atrial flutter, ventricular tachycardia or complete AV block. None of them experienced sudden death. Using cross procedure statistical methods, it was found that all the patients with PVC had right ventricular dilatation. There was no relation of other types of arrhythmia found on Holter monitoring to the other parameters from echocardiography, neither to the other standard methods. Children did not need the pace-maker, but 36.95% of the them required

  8. The role of cardiac CT angiography in the pre- and postoperative evaluation of tetralogy of Fallot

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    Ebrahim Banderker

    2015-10-01

    Full Text Available Tetralogy of Fallot (TOF is the first described and most common cyanotic congenital heart anomaly that generated the first successful surgical palliation procedure and definitive intracardiac repair. Classical TOF comprises the four typical features of right ventricular outflow tract obstruction (RVOTO, right ventricular hypertrophy (RVH, ventricular septal defect (VSD and aortic dextroposition. Complex forms of the condition include TOF associated with absent pulmonary valve and TOF with pulmonary atresia (TOF-PA with or without major aortopulmonary collateral arteries (MAPCAs. The pathophysiological understanding that the tetrad is basically the sequel of a singular abnormality of infundibular malformation, with anterior deviation of the infundibular septum, had major surgical consequences that improved survival. Diagnostic and functional imaging play a key role in the clinical and surgical management of patients with TOF. We revisit the role of traditionally employed imaging modalities (echocardiography and cardiac catheterisation only briefly as these remain within the domain of cardiology practice. The emphasis of the present review is to outline the role of cardiac computed tomographic angiography (CTA in the evaluation of TOF, with special reference to the technical considerations and best practice recommendations. Cardiovascular magnetic resonance imaging (CMR is addressed only in passing, as this service is not currently available at our institution.

  9. Sedation of hypercyanotic spells in a neonate with tetralogy of Fallot using dexmedetomidine.

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    Senzaki, Hideaki; Ishido, Hirotaka; Iwamoto, Yoichi; Taketazu, Mio; Kobayashi, Toshiki; Katogi, Toshiyuki; Kyo, Shunei

    2008-01-01

    Sedation is an important step in the management of patients with hypercyanotic spells associated with tetralogy of Fallot (TOF) to ameliorate and prevent recurrence of cyanosis. This case report illustrates the effectiveness of dexmedetomidine-induced sedation in the management of hypercyanotic spells in a neonate with TOF. An 8-day-old term newborn patient with TOF showed hypercyanotic spells, as indicated by an abrupt decrease in arterial saturation (SpO2) level measured by a pulse oximeter from 80% to as low as 50%, when the patient became irritable and agitated. We started continuous infusion of dexmedetomidine at a dose of 0.2 microg/kg/min without a loading bolus injection. About half an hour after commencement of dexmedetomidine infusion, the patient reached an acceptable level of sedation, together with a drop in heart rate by approximately 20 beats/min. There was no apparent respiratory depression or marked change in blood pressure. SpO2 was also stable during dexmedetomidine infusion. The patient underwent a successful Blalock-Taussig shunt operation on the next day of admission. Dexmedetomidine may be useful for the management of hypercyanotic spells in pediatric patients with TOF.

  10. PITX2 loss-of-function mutation contributes to tetralogy of Fallot.

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    Sun, Yu-Min; Wang, Jun; Qiu, Xing-Biao; Yuan, Fang; Xu, Ying-Jia; Li, Ruo-Gu; Qu, Xin-Kai; Huang, Ri-Tai; Xue, Song; Yang, Yi-Qing

    2016-02-15

    Congenital heart disease (CHD) is the most prevalent developmental abnormality in humans and is the most common non-infectious cause of infant morbidity and mortality. Increasing evidence demonstrates that genetic defects are involved in the pathogenesis of CHD. However, CHD is genetically heterogeneous, and the genetic determinants underpinning CHD in most patients remain unknown. In this study, the whole coding region of the PITX2 gene (isoform c) was sequenced in 185 unrelated patients with CHD. The available relatives of a mutation carrier and 300 unrelated healthy individuals used as controls were also genotyped for PITX2. The functional characteristics of the mutation were delineated by using a dual-luciferase reporter assay system. As a result, a novel heterozygous PITX2 mutation, p.Q102L, was identified in a patient with tetralogy of Fallot (TOF). Genetic analysis of the index patient's pedigree showed that the mutation co-segregated with TOF. The mutation was absent in 600 reference chromosomes. Biochemical analysis revealed that the Q102L-mutant PITX2 is associated with significantly reduced transcriptional activity compared with its wild-type counterpart. Furthermore, the mutation markedly decreased the synergistic activation between PITX2 and NKX2-5. This study firstly associates PITX2 loss-of-function mutation with increased susceptibility to TOF, providing novel insight into the molecular mechanism of CHD. Copyright © 2015 Elsevier B.V. All rights reserved.

  11. Noninvasive perioperative evaluation of right ventricular function in children with tetralogy of Fallot.

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    Ye, Jing-Jing; Shu, Qiang; Liu, Xi-Wang; Gu, Wei-zhong; Yu, Jin; Jiang, Guo-ping

    2014-01-01

    Early and accurate noninvasive means of identifying right ventricular (RV) dysfunction in children with tetralogy of Fallot (TOF) are needed. RV function was examined using tissue Doppler imaging (TDI), strain rate (SR), and strain analysis (SA) in children before (N = 37) and after (6-12 months; N = 32) TOF repair, and in a control group of children (N = 37). Plasma concentrations of N-terminal pro-brain natriuretic peptide (NT-proBNP) and matrix metalloproteinase 9 (MMP-9) were measured. TDI, SR, and SA revealed that RV systolic and diastolic function indices were lower preoperatively in the TOF group compared with the control group, and did not improve after TOF repair. Plasma NT-proBNP concentrations were significantly higher in the TOF group pre- and postoperatively compared with the control group. In the preoperative TOF group, NT-proBNP concentration was significantly correlated with peak systolic SR and systolic strain in the mid segments of RV free wall. Plasma MMP-9 concentrations were significantly increased in the preoperative TOF group compared with the control group, and significantly correlated with plasma NT-proBNP and logNT-proBNP concentrations. RV function correlated with plasma NT-proBNP concentrations in children with TOF. Assessment of this noninvasive measure may help identify RV dysfunction in patients with TOF before they become clinically symptomatic. © 2013 Wiley Periodicals, Inc. and International Center for Artificial Organs and Transplantation.

  12. Dexmedetomidine controls junctional ectopic tachycardia during Tetralogy of Fallot repair in an infant

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    Michelle LeRiger

    2012-01-01

    Full Text Available Dexmedetomidine is a highly selective α2 -adrenergic agonist approved for short-term sedation and monitored anesthesia care in adults. Although not approved for use in the pediatric population, an increasing number of reports describe its use in pediatric patients during the intraoperative period and in the intensive care unit. Dexmedetomidine can potentially have an adverse impact on the cardiovascular system secondary to its negative chronotropic and dromotropic effects. However, it is these cardiac effects that are currently being explored as a therapeutic option for the treatment of perioperative tachyarrhythmias in pediatric patients with congenital heart disease (CHD. We report the use of dexmedetomidine to treat junctional ectopic tachycardia (JET, which developed following cardiopulmonary bypass for surgical correction of Tetralogy of Fallot in a 6-week-old infant. Within 15 min of increasing the dexmedetomidine infusion from 0.5 to 3 μg/kg/h, JET converted to normal sinus rhythm. This case report provides additional anecdotal evidence that dexmedetomidine may have a therapeutic role in the treatment of perioperative tachyarrhythmias in pediatric patients with CHD. The specific effects of dexmedetomidine on the cardiac conduction system are reviewed followed by a summary of previous reports describing its use as a therapeutic agent to treat perioperative arrhythmias.

  13. Correlation between Oxygen Saturation and Hemoglobin and Hematokrit Levels in Tetralogy of Fallot Patients

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    Farhatul Inayah Adiputri

    2016-03-01

    Full Text Available Background: Hemoglobin and hematocrit levels increase in Tetralogy of Fallot (TOF but the oxygen saturation declines. Reduced hemoglobin in circulating blood as a parameter of cyanosis does not indicate rising hemoglobin due to the ‘not-working’ hemoglobins that affect the oxygen saturation. Increasing hematocrit is the result of secondary erythrocytosis caused by declining oxygen level in blood, which is related to the oxygen saturation. This study was conducted to find the correlation between oxygen saturation and hemoglobin and hematocrite levels in TOF patients. Methods: This study was undertaken at Dr. Hasan Sadikin General Hospital in the period of January 2011 to December 2012 using the cross-sectional analytic method with total sampling technique. Inclusion criteria were medical records of TOF patients diagnosed based on echocardiography that included data on oxygen saturation, hemoglobin, and hematocrite. Exclusion criteria was the history of red blood transfusion. Results: Thirty medical records of TOF patiens from Dr. Hasan Sadikin General Hospital Bandung were included in this study. Due to skewed data distribution, Spearman correlation test was used to analyze the data. There was a significant negative correlation between oxygen saturation and hematocrit level (r= -0.412; p=0.024 and insignificant correlation between oxygen saturation and hemoglobin (r=-0.329; p= 0.076. Conclusions: There is a weak negative correlation between oxygen saturation and hematocrite levels

  14. Efficacy of dexmedetomidine for the control of junctional ectopic tachycardia after repair of tetralogy of Fallot

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    Randhir S Rajput

    2014-01-01

    Full Text Available Background: Junctional ectopic tachycardia occurs frequently after congenital cardiac surgery and can be a cause of increased morbidity and mortality. Dexmedetomidine (DEX is an a2 adrenoreceptor agonist, has properties of controlling tachyarrhythmia by regulating the sympatho-adrenal system. Objective: To evaluate the efficacy of DEX for control of junctional ectopic tachycardia after repair of Tetralogy of Fallot (TOF. Materials and Methods: Two hundred and twenty pediatric cardiac patients with TOFs were enrolled in a prospective randomized control study. Patients underwent correction surgery. They were divided into two groups, i.e., Group 1 (DEX and Group 2 (control. Heart rate, rhythm, mean arterial pressure (MAP were recorded after the anesthetic induction (T1, after termination of bypass (T2, after 04 hours (T3, and 08 hours after transferring the patient to intensive care unit (ICU; T4. Results: Heart rate was comparable between two groups before starting the drug but statistically significant after bypass until 08 hours after transferring the patient to ICU. Junctional ectopic tachycardia occurred more in Group-2 (20% as compared to Group-1 (9.09%; P = 0.022. Junctional ectopic tachycardia occurs early in Group-2 (0.14 ± 0.527 hours as compared to Group 1 (0.31 ± 1.29 hours; P = 0.042. The duration of junctional ectopic tachycardia was more prolonged in Group-2 (1.63 ± 3.64 hours as compared to Group-1 (0.382 ± 1.60 hours; P = 0.012. The time to withdraw from mechanical ventilation and ICU stay of Group 1 patient was less than of Group 2 patients (P = <0.001. Conclusion: DEX had a therapeutic role in the prevention of junctional ectopic tachycardia in patients undergoing repair for TOF.

  15. Efficacy of dexmedetomidine for the control of junctional ectopic tachycardia after repair of tetralogy of Fallot.

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    Rajput, Randhir S; Das, Sambhunath; Makhija, Neeti; Airan, Balram

    2014-09-01

    Junctional ectopic tachycardia occurs frequently after congenital cardiac surgery and can be a cause of increased morbidity and mortality. Dexmedetomidine (DEX) is an α2 adrenoreceptor agonist, has properties of controlling tachyarrhythmia by regulating the sympatho-adrenal system. To evaluate the efficacy of DEX for control of junctional ectopic tachycardia after repair of Tetralogy of Fallot (TOF). Two hundred and twenty pediatric cardiac patients with TOFs were enrolled in a prospective randomized control study. Patients underwent correction surgery. They were divided into two groups, i.e., Group 1 (DEX) and Group 2 (control). Heart rate, rhythm, mean arterial pressure (MAP) were recorded after the anesthetic induction (T1), after termination of bypass (T2), after 04 hours (T3), and 08 hours after transferring the patient to intensive care unit (ICU; T4). Heart rate was comparable between two groups before starting the drug but statistically significant after bypass until 08 hours after transferring the patient to ICU. Junctional ectopic tachycardia occurred more in Group-2 (20%) as compared to Group-1 (9.09%; P = 0.022). Junctional ectopic tachycardia occurs early in Group-2 (0.14 ± 0.527 hours) as compared to Group 1 (0.31 ± 1.29 hours; P = 0.042). The duration of junctional ectopic tachycardia was more prolonged in Group-2 (1.63 ± 3.64 hours) as compared to Group-1 (0.382 ± 1.60 hours; P = 0.012). The time to withdraw from mechanical ventilation and ICU stay of Group 1 patient was less than of Group 2 patients (P = ectopic tachycardia in patients undergoing repair for TOF.

  16. Recent Development in Pulmonary Valve Replacement after Tetralogy of Fallot Repair: The Emergence of Hybrid Approaches

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    Tariq eSuleiman

    2015-06-01

    Full Text Available In the current era approximately 90% of infants born with tetralogy of Fallot (ToF are expected to live beyond 40 years of age making it the fastest growing population amongst patients with congenital heart disease. One of the most common late consequences after repair of ToF, is pulmonary valve regurgitation (PVR. Significant PVR results in progressive dilatation and dysfunction of the right ventricle, decrease in exercise tolerance, arrhythmias, heart failure, and increased risk of sudden death. The conventional approach of dealing with this problem is to perform pulmonary valve replacement using cardiopulmonary bypass (CPB and cardioplegic arrest. However, this approach is associated not only with long operative times but also side effects related to the use of CPB. Development of percutaneous approaches to valve disease is one of the most exciting areas of research and clinical innovation in cardiovascular research. The main development has been that of transcatheter pulmonary valve replacement for the rehabilitation of conduits between the right ventricle and pulmonary artery in patients after surgery for ToF. However, with the percutaneous technique, a limited size of prosthesis can be inserted. Moreover, the technique does not offer the opportunity of treating additional defects that are frequently associated with severe PR, such as pulmonary artery dilatation, and it cannot be used in the significantly dilated native right ventricular outlet tract (RVOT. The advent of the hybrid surgical options for treating cardiac disease has integrated the techniques of interventional cardiology with the techniques of cardiac surgery to provide a form of therapy that combines the respective strengths of both fields.In this review, we present and compare recent advances in procedures to replace the pulmonary valve in patients with ToF presenting with severe PVR and dilated RVOT.

  17. Development of quality metrics for ambulatory care in pediatric patients with tetralogy of Fallot.

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    Villafane, Juan; Edwards, Thomas C; Diab, Karim A; Satou, Gary M; Saarel, Elizabeth; Lai, Wyman W; Serwer, Gerald A; Karpawich, Peter P; Cross, Russell; Schiff, Russell; Chowdhury, Devyani; Hougen, Thomas J

    2017-12-01

    The objective of this study was to develop quality metrics (QMs) relating to the ambulatory care of children after complete repair of tetralogy of Fallot (TOF). A workgroup team (WT) of pediatric cardiologists with expertise in all aspects of ambulatory cardiac management was formed at the request of the American College of Cardiology (ACC) and the Adult Congenital and Pediatric Cardiology Council (ACPC), to review published guidelines and consensus data relating to the ambulatory care of repaired TOF patients under the age of 18 years. A set of quality metrics (QMs) was proposed by the WT. The metrics went through a two-step evaluation process. In the first step, the RAND-UCLA modified Delphi methodology was employed and the metrics were voted on feasibility and validity by an expert panel. In the second step, QMs were put through an "open comments" process where feedback was provided by the ACPC members. The final QMs were approved by the ACPC council. The TOF WT formulated 9 QMs of which only 6 were submitted to the expert panel; 3 QMs passed the modified RAND-UCLA and went through the "open comments" process. Based on the feedback through the open comment process, only 1 metric was finally approved by the ACPC council. The ACPC Council was able to develop QM for ambulatory care of children with repaired TOF. These patients should have documented genetic testing for 22q11.2 deletion. However, lack of evidence in the literature made it a challenge to formulate other evidence-based QMs. © 2017 Wiley Periodicals, Inc.

  18. A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

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    Goodship, Judith A; Hall, Darroch; Topf, Ana; Mamasoula, Chrysovalanto; Griffin, Helen; Rahman, Thahira J; Glen, Elise; Tan, Huay; Palomino Doza, Julian; Relton, Caroline L; Bentham, Jamie; Bhattacharya, Shoumo; Cosgrove, Catherine; Brook, David; Granados-Riveron, Javier; Bu'Lock, Frances A; O'Sullivan, John; Stuart, A Graham; Parsons, Jonathan; Cordell, Heather J; Keavney, Bernard

    2012-06-01

    Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified. Two hundred and seven haplotype-tagging single nucleotide polymorphisms in 22 candidate genes were genotyped in a test cohort comprising 362 nonsyndromic British white patients with TOF together with 717 unaffected parents of patients and 183 unrelated healthy controls. Single nucleotide polymorphisms with suggestive evidence of association in the test cohort (P<0.01) were taken forward for genotyping in an independent replication cohort comprising 392 cases of TOF, 218 unaffected parents of patients, and 1319 controls. Significant association was observed for 1 single nucleotide polymorphism, rs11066320 in the PTPN11 gene, in both the test and the replication cohort. Genotype at rs11066320 was associated with a per-allele odds ratio of 1.34 (95% confidence interval [CI], 1.19 to 1.52; P=2.9 × 10(-6)) in the total cohort of TOF cases and controls; this remained highly significant after Bonferroni correction for 207 analyses (corrected P=0.00061). Genotype at rs11066320 was responsible for a population-attributable risk of TOF of approximately 10%. Common variation in the linkage disequilibrium block including the PTPN11 gene contributes to the risk of nonsyndromic TOF. Rare mutations in PTPN11 are known to cause the autosomal dominant condition Noonan syndrome, which includes congenital heart disease, by upregulating Ras/mitogen-activated protein kinase (MAPK) signaling. Our results suggest a role for milder perturbations in PTPN11 function in sporadic, nonsyndromic congenital heart disease.

  19. Repair of Tetralogy of Fallot in Children Less Than 4 kg Body Weight.

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    Gerrah, Rabin; Turner, Mariel E; Gottlieb, Danielle; Quaegebeur, Jan M; Bacha, Emile

    2015-10-01

    We reviewed our experience of surgical repair of Tetralogy of Fallot (TOF) in children weighing less than or equal to 4 kg to compare outcome of early palliation versus complete repair as the initial surgical approach. Seventy-six patients, weighing ≤ 4 kg, with TOF surgery between January 2005 and September 2013 were included in this single-center retrospective study. Twenty-five patients who underwent initial shunt procedure followed by later full repair were compared to 51 patients who had primary full repair for differences in baseline characteristics and outcomes. Shunt group patients had lower body weight, 2.76 ± 0.69 versus 3.11 ± 0.65 (kg), p = 0.03, and lower preoperative oxygen saturations, 82 ± 7 versus 90 ± 6 (%), p = 0.0001, than full repair group. A higher number of surgical procedures per patient was recorded in shunt patients, 2.29 ± 0.59 versus 1.27 ± 0.49, p = 0.00002. Thirteen of 51 patients in the full repair group required a repeat surgery. Catheterization procedures were performed in 12 patients in shunt and in 15 patients in full repair group, with interventional angioplasty in three and 11, respectively, p ≥ 0.05. Two patients, both in the shunt group, died after the surgery. Early full repair had longer hospital stay but significantly less hospitalizations 1.95 ± 1.3 versus 2.5 ± 1.4, p = 0.03. Initial complete repair of TOF in small children yielded favorable outcome with significantly less surgical procedures and subsequent hospitalizations. Cath laboratory re-interventions for residual defects were similar after both surgical approaches, and type of initial surgery does not predict freedom from re-intervention.

  20. Surgical Results of Monocusp Implantation with Transannular Patch Angioplasty in Tetralogy of Fallot Repair

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    Woo Sung Jang

    2016-10-01

    Full Text Available Background: Monocusp reconstruction with a transannular patch (TAP results in early improvement because it relieves residual volume hypertension during the immediate postoperative period. However, few reports have assessed the long-term surgical outcomes of this procedure. The purpose of the present study was to evaluate the mid-term surgical outcomes of tetralogy of Fallot (TOF repair using monocusp reconstruction with a TAP. Methods: Between March 2000 and March 2009, 36 patients with a TOF received a TAP. A TAP with monocusp reconstruction (group I was used in 25 patients and a TAP without monocusp reconstruction (group II was used in 11 patients. We evaluated hemodynamic parameters using echocardiography during t he f ollow-up p eriod in b oth groups. Results: At the most recent follow-up echocardiography (mean follow-up, 8.2 years, the mean pulmonary valve velocities of the patients in group I and group II were 2.1±1.0 m/sec and 0.9±0.9 m/sec, respectively (p=0.001. Although the incidence of grade 3–4 pulmonary regurgitation (PR was not significantly different between the two groups (group I: 16 patients, 64.0%; group II: 7 patients, 70.0%; p=0.735 during the follow-up period, the interval between the treatment and the incidence of PR aggravation was longer in group I than in group II (group I: 6.5±3.4 years; group II: 3.8±2.2 years; p=0.037. Conclusion: Monocusp reconstruction with a TAP prolonged the interval between the initial treatment and grade 3–4 PR aggravation. Patients who received a TAP with monocusp reconstruction to repair T OF w ere not to p rogress to p ulmonary s tenosis during t he f ollow-up p eriod as t hose who received a TAP without monocusp reconstruction.

  1. Tetralogy of Fallot Surgical Repair: Shunt Configurations, Ductus Arteriosus and the Circle of Willis.

    Science.gov (United States)

    Piskin, Senol; Unal, Gozde; Arnaz, Ahmet; Sarioglu, Tayyar; Pekkan, Kerem

    2017-06-01

    In this study, hemodynamic performance of three novel shunt configurations that are considered for the surgical repair of tetralogy of Fallot (TOF) disease are investigated in detail. Clinical experience suggests that the shunt location, connecting angle, and its diameter can influence the post-operative physiology and the neurodevelopment of the neonatal patient. An experimentally validated second order computational fluid dynamics (CFD) solver and a parametric neonatal diseased great artery model that incorporates the ductus arteriosus (DA) and the full patient-specific circle of Willis (CoW) are employed. Standard truncated resistance CFD boundary conditions are compared with the full cerebral arterial system, which resulted 21, -13, and 37% difference in flow rate at the brachiocephalic, left carotid, and subclavian arteries, respectively. Flow splits at the aortic arch and cerebral arteries are calculated and found to change with shunt configuration significantly for TOF disease. The central direct shunt (direct shunt) has pulmonary flow 5% higher than central oblique shunt (oblique shunt) and 23% higher than modified Blalock Taussig shunt (RPA shunt) while the DA is closed. Maximum wall shear stress (WSS) in the direct shunt configuration is 9 and 60% higher than that of the oblique and RPA shunts, respectively. Patent DA, significantly eliminated the pulmonary flow control function of the shunt repair. These results suggests that, due to the higher flow rates at the pulmonary arteries, the direct shunt, rather than the central oblique, or right pulmonary artery shunts could be preferred by the surgeon. This extended model introduced new hemodynamic performance indices for the cerebral circulation that can correlate with the post-operative neurodevelopment quality of the patient.

  2. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome with Tetralogy of Fallot: a very rare combination

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    Deepak eSharma

    2015-06-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births. It is known with various names which includes split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.

  3. Relation of right ventricular mechanics to exercise tolerance in children after tetralogy of Fallot repair.

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    Friedberg, Mark K; Fernandes, Fernanda P; Roche, Susan L; Slorach, Cameron; Grosse-Wortmann, Lars; Manlhiot, Cedric; Fackoury, Cheryl; McCrindle, Brian W; Mertens, Luc; Kantor, Paul F

    2013-04-01

    Progressive right ventricular (RV) dysfunction and exercise intolerance are common problems after tetralogy of Fallot (TOF) repair. We investigated RV myocardial deformation and dyssynchrony in children after TOF repair and their association with exercise capacity. Asymptomatic children after TOF repair were investigated by 2-dimensional speckle tracking echocardiography, magnetic resonance, and metabolic exercise study. Patients with RV outflow obstruction were excluded. Peak RV longitudinal strain and strain rate (SR) and dyssynchrony (RV intraventricular delay) were compared with healthy controls. Associations between RV strain, dyssynchrony, and exercise capacity were analyzed. Thirty-nine (81%) of 48 TOF patients and 40 healthy controls had adequate RV strain imaging. The TOF patients had moderately dilated RVs and normal RV ejection fraction. Right ventricular peak systolic strain (-23.2% ± 5.1% vs -28.5% ± 8.5%, P Right ventricular intraventricular delay was higher in TOF patients (146.0 ± 159 vs 71.0 ± 92 milliseconds, P = .008). Decreased RV strain and SR were associated with increased RV dyssynchrony (strain parameter estimate [PE] 6.31 [2.30], P = .007; SR [PE] 11.32 [3.84], P = .004). Increased RV-left ventricular delay was associated with prolonged QRS duration (PE 0.13 [0.058], P = .03) and reduced RV ejection fraction (PE -2.95 [1.275], P = .02). Reduced RV peak SR was associated with decreased exercise peak oxygen uptake (PE 0.14 [0.07], P = .04). After repair of TOF, asymptomatic children have reduced RV deformation in association with RV dyssynchrony and reduced exercise tolerance. Copyright © 2013 Mosby, Inc. All rights reserved.

  4. Risk factors for morbidity in infants undergoing tetralogy of fallot repair

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    Alexander C Egbe

    2014-01-01

    Full Text Available Background: Primary repair of tetralogy of Fallot (TOF has low surgical mortality, but some patients still experience significant postoperative morbidity. Aim: To review our institutional experience with primary TOF repair, and identify predictors of intensive care unit (ICU morbidity. Settings and Design: Medium-sized pediatric cardiology program. Retrospective study. Subjects and Methods: We retrospectively reviewed all the patients with TOF and pulmonic stenosis who underwent primary repair in infancy at our institution from January 2001 to December 2012. Preoperative, operative, and postoperative demographic and morphologic data were analyzed. ICU morbidity was defined as prolonged ICU stay (≥7 days, and/or prolonged duration of mechanical ventilation (≥48 h. Statistical Analysis Used: Multiple logistic regression analysis. Results: Ninety-seven patients underwent primary surgical repair during the study period. The median age was 4.9 months (1-9 months and the median weight was 5.3 kg (3.1-9.8 kg. There was no early surgical mortality. Incidence of junctional ectopic tachycardia (JET and persistent complete heart block was 2 and 1%, respectively. The median length of ICU stay was 6 days (2-21 days and median duration of mechanical ventilation was 19 h (0-136 h. By multiple regression analysis, age and weight were independent predictors of length of ICU stay, while surgical era was an independent predictor of duration of mechanical ventilation. Conclusion: Primary TOF repair is a safe procedure with low mortality and morbidity in a medium-sized program with outcomes comparable to national standards. Age and weight at the time of surgery remain significant predictors of morbidity.

  5. Aortopathy in adults with tetralogy of Fallot has a negative impact on the left ventricle.

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    Shiina, Yumi; Murakami, Tomoaki; Kawamatsu, Naoto; Niwa, Koichiro

    2017-02-01

    Aortic pressure wave reflection is significantly elevated in patients with congenital heart disease, even in children. Excessive aortic pressure wave reflection provokes cardiovascular events. To assess the influences of the enhanced pressure wave reflection on the left ventricle (LV) in adults with repaired tetralogy of Fallot (TOF). Prospectively, 51 consecutive adults with repaired TOF (35.5±11.6yrs., 25 males) were enrolled and non-invasively assessed the pressure wave reflection using HEM 9000AI. A surrogate maker of the aortic pressure wave reflection, radial augmentation index (rAI) was calculated as reflection wave divided by ejection wave. We also evaluated LV function using echocardiography and magnetic resonance images. Patients were divided into two groups: group A with rAI≧1SD and group B with rAI<1SD. The mean rAI in repaired TOF was 76.9±14.3%. In group A, indexed ascending aortic diameter, LV global longitudinal strain (GLS), LV global circumferential strain (GCS), LV early diastolic strain rate (SR), LV E/A, LV e' were significantly higher than them in group B. The indexed ascending aortic diameter significantly correlated with rAI (r=0.31, P<0.05). On univariate logistic analysis, body surface area, indexed ascending aortic diameter, GLS, GCS, early diastolic SR, LV E/A, LV mass index and creatinine were predictive factors of rAI≧1SD. On multivariate logistic analysis, LV E/A was the most significant predictive factor of rAI≧1SD (Odds ratio 0.044, 95%CI 0.002-0.98 and P<0.05). Aortic pressure wave reflection in adults with repaired TOF has a negative impact on LV function, particularly on diastolic function. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  6. QRS fragmentation is superior to QRS duration in predicting mortality in adults with tetralogy of Fallot.

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    Bokma, Jouke P; Winter, Michiel M; Vehmeijer, Jim T; Vliegen, Hubert W; van Dijk, Arie P; van Melle, Joost P; Meijboom, Folkert J; Post, Martijn C; Zwinderman, Aeilko H; Mulder, Barbara J M; Bouma, Berto J

    2017-05-01

    Although QRS duration >180 ms has prognostic value in adults with tetralogy of Fallot (TOF), its sensitivity to predict mortality is low. Fragmented QRS complexes, a simple measurement on ECG, are related to myocardial fibrosis and dysfunction in patients with TOF. Our objective was to determine whether QRS fragmentation predicts major outcomes in TOF. This multicentre study included adult patients with TOF from a prospective registry. Notches in the QRS complex in ≥2 contiguous leads on a 12-lead ECG, not related to bundle branch block, were defined as QRS fragmentation, which was classified as none, moderate (≤4 leads) or severe (≥5 leads). The primary and secondary outcomes were all-cause mortality and clinical ventricular arrhythmia, respectively. A total of 794 adult patients with TOF (median age 27 years, 55% male; 52% no QRS fragmentation, 32% moderate, 16% severe) were included. During long-term (median 10.4 years) follow-up, 46 (6%) patients died and 35 (4%) patients had ventricular arrhythmias. Overall, 10-year survival was 98% in patients without fragmented QRS complexes, 93% in patients with moderate QRS fragmentation and 81% in patients with severe QRS fragmentation. In multivariable Cox hazards regression analysis, extent of QRS fragmentation (HR: 2.24/class, 95% CI 1.48 to 3.40, pfragmentation was also independently predictive for ventricular arrhythmia (HR: 2.00/class, 95% CI 1.26 to 3.16, p=0.003). The extent of QRS fragmentation is superior to QRS duration in predicting mortality in adult patients with TOF and may be used in risk stratification. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  7. T wave alternans threshold late after repair of tetralogy of Fallot

    Science.gov (United States)

    Cheung, Michael M H.; Weintraub, Robert G.; Cohen, Richard J.; Karl, Tom R.; Wilkinson, James L.; Davis, Andrew M.

    2002-01-01

    INTRODUCTION: Sustained microvolt-level T wave alternans (TWA) is a marker of increased risk for malignant ventricular arrhythmia. There is a significant risk of arrhythmia and sudden death after repair of congenital heart disease. The aim of this study was to determine the prevalence and characteristics of TWA after repair of tetralogy of Fallot (TOF). METHODS AND RESULTS: TWA was evaluated during bicycle exercise in 49 subjects who had consecutively undergone transatrial-transpulmonary repair. Median values for age, age at repair, and follow-up duration were 14.9 years (11.5-20.8), 1.6 years (0.2-4.9), and 11.6 years (9.4-17.2), respectively. All patients were in New York Heart Association functional class I and were asymptomatic. Median QRS duration was 120 msec (80-150). Sustained TWA was detected in 7 (23%) of 31 subjects with adequate tests. In these 7 subjects, median onset heart rate (HR) was 120 (98-155). Median HR threshold as a percentage of predicted maximum HR (220 - age) was 58% (48-77). Sustained TWA prevalence was not significantly different compared with normal subjects (7/31 vs 9/83; P = 0.1). Onset HR in the TOF group was significantly lower [mean (SD) of 122 (20) vs 139 (12), P < 0.05]. In the TOF group with sustained TWA, the TWA occurred in 4 of 7 at <60% predicted maximum HR versus 1 of 9 normal subjects (P < 0.05); 3 of 7 had onset HR <120 versus 0 of 9 normal subjects (P < 0.03). There was no significant difference in age, gender, transannular patch use, restrictive right ventricular physiology, QRS duration, QTc, QT/QRS dispersion, or nonsustained ventricular tachycardia in subjects with or those without sustained TWA. CONCLUSION: The onset HR for sustained TWA is significantly lower after repair of TOF. Further study is required to determine whether this represents an increased risk for arrhythmia in this patient group.

  8. Ten-year outcomes of monomorphic ventricular tachycardia catheter ablation in repaired tetralogy of Fallot.

    Science.gov (United States)

    Laredo, Mikaël; Frank, Robert; Waintraub, Xavier; Gandjbakhch, Estelle; Iserin, Laurence; Hascoët, Sebastien; Himbert, Caroline; Gallais, Yves; Hidden-Lucet, Françoise; Duthoit, Guillaume

    2017-05-01

    Monomorphic ventricular tachycardia (MVT) is common in adults with repaired tetralogy of Fallot (TOF), and is associated with sudden cardiac death. Management of MVT is not defined, and results of catheter ablation (CA) are limited. To evaluate long-term outcomes of MVT CA in repaired TOF. Thirty-four patients (mean age 32±10.3 years; 59% male) with repaired TOF underwent CA for symptomatic MVT between 1990 and 2012 in our centre; direct-current ablation (DCA) was used in 6%, radiofrequency followed by DCA in 29% and radiofrequency alone in 65%. Right ventricular (RV) dysfunction was present in 35% and left ventricular (LV) dysfunction in 21%. Mean numbers of clinical and induced MVTs were 1 and 2, respectively. Mean VT rate was 225±95bpm. Ablation targeted a single site (range 1-2), which was RV outflow tract in 85%. Primary success, defined as ventricular tachycardia (VT) termination during CA and final non-inducibility, was obtained in 82%. Seven patients (21%) required redo ablation in the first 3 months (before 2004; DCA). No death related to CA occurred. Mean follow-up time was 9.5±5.2 years. Antiarrhythmic therapy was discontinued in 71%. There were two cases of sudden cardiac death and four VT recurrences. Freedom from death and arrhythmia recurrence was 94% at 5 years, 81% at 10 years and 70% at 20 years. Global survival was 91% at 20 years. Baseline LV ejection fraction<60% was significantly associated with ventricular arrhythmia recurrence (hazard ratio 16.4, 95% confidence interval 1.8-147; P=0.01). CA can safely address macroreentrant MVT in repaired TOF patients with an acceptable long-term rate of recurrence in this high-risk population. Anatomical classification of isthmuses with electroanatomical mapping provides reproducible endpoints for CA. Attention should be given to LV systolic function in risk assessment and selection of candidates for implantable cardioverter-defibrillator. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  9. LINE-1 methylation status and its association with tetralogy of fallot in infants

    Science.gov (United States)

    2012-01-01

    Background Methylation levels of long interspersed nucleotide elements (LINE-1) are representative of genome-wide methylation status and play an important role in maintaining genomic stability and gene expression. To derive insight into the association between genome-wide methylation status and tetralogy of fallot (TOF), we compared the methylation status of LINE-1 element between TOF patients and controls. The methylation of the NKX 2–5, HAND 1, and TBX 20 promoter regions was also evaluated. Methods Genomic DNA from right ventricular tissue samples was obtained from 32 patients with TOF and 15 control subjects. Sequenom MassARRAY platform was performed to examine the methylation levels of LINE-1, NKX2-5, HAND1 and TBX20. Mann–Whitney U test was used to compare differences in methylation levels between two groups. Results The methylation level of LINE-1 was significantly lower in patients with TOF, with a median of 57.95% (interquartile range [IQR]: 56.10%–60.04%), as opposed to 59.70% in controls (IQR: 59.00%–61.30%; P = 0.0021). The highest LINE-1 methylation level was 61.3%. The risk of TOF increased in subjects with the lowest methylation levels (less than or equal to 59.0%; OR = 14.7, 95% CI: 1.8–117.7, P = 0.014) and in those with medium methylation levels (59.0%–61.3%; OR = 2.0, 95% CI: 0.3–14.2, P = 0.65). An ROC curve analysis showed a relatively high accuracy of using the LINE-1 methylation level in predicting the presence of TOF (AUC = 0.78, 95% CI: 0.65–0.91; P = 0.002). The association of the LINE-1 methylation level with TOF was only observed in males (P = 0.006) and not in females (P = 0.25). Neither age nor gender was found to be associated with the LINE-1 methylation level in patients or controls. Higher methylation levels of NKX2-5 and HAND1 and lower methylation levels of TBX20 were also observed in patients with TOF than in controls. No association was found between the methylation levels of

  10. Noncoding RNA expression in myocardium from infants with tetralogy of Fallot.

    Science.gov (United States)

    O'Brien, James E; Kibiryeva, Nataliya; Zhou, Xin-Gang; Marshall, Jennifer A; Lofland, Gary K; Artman, Michael; Chen, Jie; Bittel, Douglas C

    2012-06-01

    The importance of noncoding RNAs (ncRNA), especially microRNAs (miRNAs), for maintaining stability in the developing vertebrate heart has recently become apparent; however, there is little known about the expression pattern of ncRNA in the human heart with developmental anomalies. We examined the expression of miRNAs and small nucleolar RNAs (snoRNAs) in right ventricular myocardium from 16 infants with nonsyndromic tetralogy of Fallot (TOF) without a 22q11.2 deletion, 3 fetal heart samples, and 8 normally developing infants. We found 61 miRNAs and 135 snoRNAs to be significantly changed in expression in myocardium from children with TOF compared with normally developing comparison subjects. The pattern of ncRNA expression in TOF myocardium had a surprising resemblance to expression patterns in fetal myocardium, especially for the snoRNAs. Potential targets of miRNAs with altered expression were enriched for gene networks of importance to cardiac development. We derived a list of 229 genes known to be critical to heart development and found 44 had significantly changed expression in TOF myocardium relative to normally developing myocardium. These 44 genes had significant negative correlation with 33 miRNAs, each of which also had significantly changed expression. The primary function of snoRNAs is targeting specific nucleotides of ribosomal RNAs and spliceosomal RNAs for biochemical modification. The targeted nucleotides of the differentially expressed snoRNAs were concentrated in the 28S and 18S ribosomal RNAs and 2 spliceosomal RNAs, U2 and U6. In addition, in myocardium from children with TOF, we observed splicing variants in 51% of genes that are critical for cardiac development. Taken together, these observations suggest a link between levels of snoRNA that target spliceosomal RNAs, spliceosomal function, and heart development. This is the first report characterizing ncRNA expression in a congenital heart defect. The striking shift in expression of nc

  11. Uteroplacental Doppler flow and pregnancy outcome in women with tetralogy of Fallot.

    Science.gov (United States)

    Kampman, M A M; Siegmund, A S; Bilardo, C M; van Veldhuisen, D J; Balci, A; Oudijk, M A; Groen, H; Mulder, B J M; Roos-Hesselink, J W; Sieswerda, G; de Laat, M W M; Sollie-Szarynska, K M; Pieper, P G

    2017-02-01

    Pregnancy in women with surgically corrected tetralogy of Fallot (ToF) is associated with cardiac, obstetric and neonatal complications. We compared uteroplacental Doppler flow (UDF) measurements and pregnancy outcome in women with ToF and in healthy women and aimed to assess whether a relationship exists between cardiac function and UDF in women with ToF. We evaluated prospectively pregnant women with ToF and healthy pregnant women from the ZAHARA studies. Clinical evaluation, standardized echocardiography and UDF measurements were performed at 20 and 32 weeks' gestation. We included 62 women with ToF and 69 healthy controls. Cardiac complications, mostly arrhythmia, occurred in 8.1% of women with ToF. There was a higher incidence of small-for-gestational age (21.0% vs 4.4%, P = 0.004) and low birth weight (16.1% vs 2.9%, P = 0.009) in the group of women with ToF than in healthy controls. In women with ToF, early diastolic notching of uterine artery waveform at 20 and 32 weeks occurred more frequently (9.8% vs 1.5%, P = 0.034 and 7.0% vs 0%, P = 0.025, respectively) and the umbilical artery pulsatility index at 32 weeks was higher (1.02 ± 0.20 vs 0.94 ± 0.17, P = 0.015) than in healthy controls. Right ventricular function parameters prepregnancy and at 20 weeks' gestation were significantly associated with abnormal UDF. UDF parameters were associated with adverse neonatal outcome. The majority of women with surgically corrected ToF tolerate pregnancy well. However, UDF indices are more frequently abnormal in these women, suggesting impaired placentation. The association of impaired right ventricular function parameters with abnormal UDF suggests that cardiac dysfunction contributes to defective placentation or placental perfusion mismatch and may explain the increased incidence of obstetric and neonatal complications. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2016 ISUOG. Published by John

  12. Risk Factors Associated with Prolonged Mechanical Ventilation after Corrective Surgery for Tetralogy of Fallot.

    Science.gov (United States)

    Li, Shengli; Zhang, Yajuan; Li, Shoujun; Wang, Xu; Zhang, Rongyuan; Lu, Zhongyuan; Yan, Jun

    2015-01-01

    This study examined early postoperative results to identify perioperative factors that are associated with prolonged mechanical ventilation (PMV) in tetralogy of Fallot (TOF) patients undergoing corrective surgery. We retrospectively examined the role of perioperative variables in determining the period of mechanical ventilatory support in TOF patients undergoing corrective surgery. A total of 821 patients were included in the study. The cohort was divided into a PMV group that included patients with >90th percentile for duration of mechanical ventilation and a non-PMV group which included all other patients. Non-PMV group consisted of 751 patients (454 males, 297 females; median age 12 months, interquartile range 8-19 months; mean weight 9.60 ± 2.98 kg). PMV group consisted of 70 patients (51 males, 19 females; median age 8 months, interquartile range 6.75-13 months; mean weight 8.64 ± 1.95 kg). No patients died in the non-PMV group compared with two deaths due to acute respiratory distress syndrome in the PMV group. Univariate risk factors for PMV included age, weight, left ventricular end-diastolic volume index (LVEDVI), McGoon ratio, Nakata index, previous palliative operations, cardiopulmonary bypass (CPB) time, aortic cross-clamp (ACC) time, preoperative major aortopulmonary collateral arteries (MAPCAs) occlusion by coils in hybrid procedure, postoperative right ventricular/left ventricular systolic pressure ratio, central venous pressure (CVP), left atrial pressure (LAP), endotracheal reintubation, vasoactive-inotropic score (VIS), renal replacement therapy, and early-onset ventilator-associated pneumonia (VAP). In a multivariable model, age, LVEDVI, McGoon ratio, Nakata index, previous palliative operations, CPB time, blood returning to left atrium during surgery as a surrogate marker for significant aortopulmonary collateral presence, and early-onset VAP were the independent risk factors for PMV. The risk factors for PMV were age, LVEDVI, McGoon ratio

  13. Tetralogia de Fallot e sua repercussão na saúde bucal Repercussion of tetralogy of Fallot on oral health

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    Cristiane Meira Assunção

    2008-03-01

    Full Text Available OBJETIVO: Relatar o caso de um paciente com tetralogia de Fallot e sua condição bucal. DESCRIÇÃO DO CASO: Paciente do gênero masculino atendido no Curso de Especialização em Odontopediatria da Escola de Aperfeiçoamento Profissional da Associação Brasileira de Odontologia da seção Paraná dos cinco aos sete anos de idade. O exame clínico intrabucal inicial revelou quadro de cárie severa da infância. Durante o acompanhamento, verificou-se a erupção dos primeiros molares permanentes com a presença de defeitos de desenvolvimento de esmalte e perda de estrutura dental. À anamnese, a mãe relatou que o paciente foi portador de tetralogia de Fallot e que a cirurgia corretora foi realizada com um ano e 11 meses de idade. COMENTÁRIOS: A formação do esmalte dental dos primeiros molares permanentes ocorre a partir do primeiro mês de vida e é finalizada entre dois e quatro anos de idade. Neste caso, tal etapa coincidiu com o período anterior à cirurgia para correção da tetralogia de Fallot, fato que pode ter interferido negativamente no processo de mineralização dos primeiros molares permanentes. Os defeitos de desenvolvimento do esmalte podem levar a perda de estrutura dental, favorecendo o aparecimento da cárie dentária. Dessa forma, o odontopediatra deve realizar um diagnóstico precoce dessas alterações e intervir preventivamente para evitar a perda de tais dentes. Uma anamnese bem detalhada e a maior interação entre pediatras e odontopediatras podem proporcionar melhor acompanhamento de crianças com fatores de risco para apresentar defeitos de desenvolvimento do esmalte dentário.OBJECTIVE: To report a case of a child with tetralogy of Fallot and his oral conditions. CASE DESCRIPTION: A male patient was assisted at the Pediatric Dentristry Specialization Course of the Brazilian Dentistry Association in the State of Paraná, Brazil, from five to seven years old. At the first intrabucal examination, the child

  14. Repaired tetralogy of Fallot: the roles of cardiovascular magnetic resonance in evaluating pathophysiology and for pulmonary valve replacement decision support

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    Geva Tal

    2011-01-01

    Full Text Available Abstract Surgical management of tetralogy of Fallot (TOF results in anatomic and functional abnormalities in the majority of patients. Although right ventricular volume load due to severe pulmonary regurgitation can be tolerated for many years, there is now evidence that the compensatory mechanisms of the right ventricular myocardium ultimately fail and that if the volume load is not eliminated or reduced by pulmonary valve replacement the dysfunction might be irreversible. Cardiovascular magnetic resonance (CMR has evolved during the last 2 decades as the reference standard imaging modality to assess the anatomic and functional sequelae in patients with repaired TOF. This article reviews the pathophysiology of chronic right ventricular volume load after TOF repair and the risks and benefits of pulmonary valve replacement. The CMR techniques used to comprehensively evaluate the patient with repaired TOF are reviewed and the role of CMR in supporting clinical decisions regarding pulmonary valve replacement is discussed.

  15. Estudo angiográfico da circulação pulmonar na tetralogia de Fallot com atresia pulmonar Angiographic study of pulmonary circulation in tetralogy of Fallot with pulmonary atresia

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    Marco Aurélio Santos

    2005-02-01

    Full Text Available OBJETIVO: Identificar os tipos de suprimento sangüíneo vascular pulmonar na tetralogia de Fallot com atresia pulmonar por meio de estudo hemodinâmico. MÉTODOS: Foram submetidos a estudo cineangiocardiográfico 56 pacientes portadores de tetralogia de Fallot com atresia pulmonar com idade de 20 dias a 4 anos e efetuadas injeções de contraste nas seguintes estruturas vasculares: 1 veia pulmonar encunhada, 2 colaterais aortopulmonares, 3 aorta torácica e 4 ductus arteriosus e/ou shunt sistêmico pulmonar. RESULTADOS: Dos 56 pacientes, 15 tinham o suprimento sangüíneo pulmonar através de colaterais aortopulmonares, em 36 o suprimento sangüíneo pulmonar era feito isoladamente pelo ductus arteriosus e em 5 pelo ductus arteriosus e colaterais aortopulmonares. Conforme a presença ou ausência de estruturas vasculares que compõem a circulação pulmonar na tetralogia de Fallot com atresia pulmonar e do tipo de perfusão vascular pulmonar, os doentes foram classificados em 6 tipos. CONCLUSÃO: Em função da grande complexidade e extrema variabilidade do suprimento sangüíneo pulmonar na tetralogia de Fallot com atresia pulmonar torna-se possível, com este tipo de abordagem, a obtenção de informações, suficientemente necessárias, para o correto manuseio clínico-cirúrgico.OBJECTIVE: To identify the types of pulmonary vascular blood supply in tetralogy of Fallot with pulmonary atresia by use of hemodynamic study. METHODS: Fifty-six patients with tetralogy of Fallot and pulmonary atresia, and ages ranging from 20 days to 4 years, underwent cineangiocardiographic study with contrast medium injections in the following vascular structures: 1 wedged pulmonary vein; 2 aortopulmonary collaterals; 3 thoracic aorta; and 4 ductus arteriosus or systemic-pulmonary shunt. RESULTS: In the 56 patients studied, pulmonary blood was supplied as follows: in 15, by aortopulmonary collaterals; in 36, only by the ductus arteriosus; and in 5, by the ductus

  16. Does the prophylactic and therapeutic use of beta-blockers in preoperative patients with tetralogy of Fallot significantly prevent and treat the occurrence of cyanotic spells?

    Science.gov (United States)

    Fanous, Eliana; Mogyorósy, Gábor

    2017-10-01

    A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was 'Does the use of beta-blockers significantly prevent and treat the occurrence of cyanotic spells in preoperative infants with tetralogy of Fallot?' Altogether, 80 papers were found using the reported search, of which 6 represented the best evidence to answer the clinical question. The author, journal, date, country of publication, patient group studied, study type, relevant outcomes and results of these papers are tabulated. The participants in the papers reviewed were uncorrected (native or palliated) tetralogy of Fallot patients, all younger than 18 years of age, with some patients younger than 1 year. Each study reviewed included at least 10 patients, and all the studies were case series. Although even the most recent studies found were from 30 years ago, their data remain relevant. Several reviews reported either cases of overdosage or changes in efficacy of treatment after long-term usage. Four of the 6 case reviews demonstrated a decrease in the number of recurring cyanotic spells in at least 66% of the participants, following the introduction of beta-blockers. We can therefore conclude that the use of beta-blockers prevents the occurrence of cyanotic spells in preoperative patients with tetralogy of Fallot. There were insufficient data to establish optimum dosages or duration of treatment. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  17. A case of schizophrenia comorbid for tetralogy of Fallot treated with clozapine: further considerations on a role for 22q.11.2 in the proneness for seizures

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    Kashiwagi H

    2017-08-01

    Full Text Available Hiroko Kashiwagi,1 Satoru Ikezawa,2 Tomiki Sumiyoshi,3 Atsuko Kadono,4 Kazuhiko Segawa,5 Kazuyoshi Takeda,1 Mayu Omori,1 Hisako Taguchi,1 Naotsugu Hirabayashi1 1Department of Forensic Psychiatry, 2Department of Psychiatry, 3Department of Clinical Epidemiology, Translational Medical Center, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, 4Saitama Psychiatric Medical Center, Kitaadatigun, Saitama, 5Department of General Medicine, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan Abstract: We present a case of schizophrenia comorbid for tetralogy of Fallot, without chromosome 22q.11.2 deletion or duplication, treated successfully with a combination of clozapine and antiepileptic drugs. Although clozapine by itself initially triggered convulsive seizures, we continued it with co-administration of valproate and topiramate. This combined treatment did not affect cardiac function of the patient, who experienced a favorable clinical course in terms of symptomatology and functional outcomes. To our knowledge, we provide the first report on a patient with tetralogy of Fallot, in whom 22q.11.2 was not deleted and clozapine-induced seizures were observed. Keywords: schizophrenia, clozapine, tetralogy of Fallot, seizure, copy number variants

  18. Analgesia de parto em paciente com tetralogia de Fallot não corrigida: relato de caso Analgesia de parto en paciente con tetralogía de Fallot no corregida: relato de caso Labour analgesia in parturient with uncorrected tetralogy of Fallot: case report

    Directory of Open Access Journals (Sweden)

    Florentino Fernandes Mendes

    2005-02-01

    obstétrica fue la de parto vía baja, siendo realizada analgesia de parto a través de bloqueo peridural con bupivacaína a 0,125% y fentanil (100 µg y colocación de catéter peridural. Después de 1h30 minutos del inicio de la analgesia, ocurrió el nacimiento. El peso del recién nacido fue 1485 g y el índice de Apgar 6 y 8 en el primero y en el quinto minutos, respectivamente. La paciente permaneció estable y sin alteraciones hemodinámicas y/o electrocardiográficas. CONCLUSIONES: La elección de la técnica anestésica es de fundamental importancia en el manoseo de las pacientes con tetralogía de Fallot no corregidas. Condiciones favorables del cuello y buena dinámica uterina, particularmente en aquellas pacientes sin historia de síncope, se vuelven imprescindibles para una buena indicación de la analgesia de parto.BACKGROUND AND OBJECTIVES: Although tetralogy of Fallot is the most common cyanotic congenital heart disease, national publications correlating this condition with anesthetic practice are scarce. This report aimed at presenting a case of labor epidural analgesia in a patient with uncorrected tetralogy of Fallot diagnosed during gestation. CASE REPORT: Patient 26 years old, 1.54 m, 56 kg, 32 weeks and 5 days of gestational age, who had been diagnosed with tetralogy of Fallot during gestation. Patient was admitted in labour. After obstetric evaluation and decision for natural birth, epidural analgesia was performed with 0.125% bupivacaine associated to 100µg fentanyl through a catheter. Patient gave birth 1 hour and 30 minutes after the procedure. The newborn weighed 1485 grams and had an Apgar score of 6 and 8 at one and five minutes, respectively. Patient remained stable, with no hemodynamic or ECG changes. CONCLUSIONS: Selecting the appropriate anesthetic technique is extremely important when managing patients with uncorrected tetralogy of Fallot. Favorable uterine dynamics and cervical conditions, particularly in patients with no history of

  19. Postsystolic Shortening Is Associated with Altered Right Ventricular Function in Children after Tetralogy of Fallot Surgical Repair.

    Science.gov (United States)

    Pietrzak, Radosław; Werner, Bożena

    2017-01-01

    The aim of the study was to determine whether segmental interactions, as expressed by postsystolic shortening (PSS), affects RV mechanics and are connected with impaired systolic and diastolic function in rTOF children. 55 rTOF adolescent (study group), and 34 healthy volunteers (control group) were examined using classical Doppler flow (Doppler), Tissue Doppler Imaging (TDI) and Speckle Tracking Echocardiography (STE). PSS was found to occur when time to peak (TTP) was longer than pulmonary valve closure time (PVCT). TTP and strain were derived from RV lateral segments-basal (BL), medial (ML) and apical (AL) in STE. PVCT was measured from the beginning of QRS complex in the ECG to the termination of Doppler flow at the pulmonary valve. TDI was obtained at the lateral tricuspid annulus site and the systolic (S'), early (E') and late diastolic (A') peak velocities were measured along with isovolumic contraction (IVCT), and relaxation (IVRT) time. PW was used to measure early tricuspid inflow velocity (E) for calculating the E/E' ratio. The TDI data in patients with PSS presence (TTP>PVCT) and those in whom it did not occur (TTP≤PVCT) were compared. PSS in BL, ML and AL were observed respectively in: 27(51,9%), 9 (18%), and 8 (16,7%) patients. Mean values of TTP in BL, ML, and AL were respectively: 420.6±55.5ms, 389.8±50.0ms and 366.7±59.0ms. PVCT mean value was 396.6±33.5ms. In the study group, the mean E' in TTP>PVCT was significantly lower (4.8±1.8 cm/s) compared to mean E' in TTP≤PVCT (8.4±2.6 cm/s), pPCVT than in TTP≤PVCT, respectively 21.6±7.3 vs 12.2±5.1, pPVCT compared to IVRT in TTP≤PVCT, respectively 95.9±38.7 vs 77.0±35.1, pPVCT, significantly higher strain in BL (-28.8±8.7%) was observed when compared to that parameter in TTP≤PVCT (-35.3±13.1%), p children after Tetralogy of Fallot surgical repair. Postsystolic shortening in the basal lateral segment is commonly seen in children after the Tetralogy of Fallot surgical repair, and is

  20. Differential Effect of the Ratio of Right Ventricular Volume to Left Ventricular Volume in Children with Repaired Tetralogy of Fallot.

    Science.gov (United States)

    Yao, Qiong; Hu, Xi-Hong; Shen, Quan-Li; Qiao, Zhong-Wei; Pa, Mi-Er; Qian, Bin; Yan, Wei-Li; Huang, Guo-Ying

    2016-01-01

    We aimed to compare the diagnostic value of indexed right ventricular end-diastolic volume (RVEDVi) and the ratio of right ventricle volume to left ventricle volume (RV/LV ratio) in prediction of the severity of pulmonary regurgitation (PR) expressed as the PR fraction (PRF) after surgery of tetralogy of Fallot (TOF). Forty-one patients with repaired TOF were included in the study. RVEDVi, LVEDVi, RV/LV ratio, PRF and ejection fraction were measured with magnetic resonance imaging. A PRF of more than 20% was considered significant. The predictive capability of two markers (RVEDVi and RV/LV ratio) for significant PR was compared using multivariate linear regression analysis and receiver operating characteristic (ROC) analysis. Both the RV/LV ratio and RVEDVi showed a correlation with PRF (r = 0.526/0.321, p = 0.001/0.041) in the correlation analysis, but in multivariate regression analysis the only independent predictor of PRF was the RV/LV ratio (F = 14.890, p = 0.001). ROC analysis revealed that a better discrimination of significant PR (>20%) from slight types (=20%) PR can be reached with the RV/LV ratio than RVEDVi (AUC = 0.805/0.709, p = 0.01). The RV/LV ratio was better than RVEDVi at differentiating mild from moderate PR (p = 0.006 vs. p = 0.153), and proved superior over RVEDVi in predicting PR based on the PRF criterion. © 2015 S. Karger AG, Basel.

  1. Mechanisms of right ventricular electromechanical dyssynchrony and mechanical inefficiency in children after repair of tetralogy of fallot.

    Science.gov (United States)

    Hui, Wei; Slorach, Cameron; Dragulescu, Andreea; Mertens, Luc; Bijnens, Bart; Friedberg, Mark K

    2014-07-01

    Right bundle branch block and right ventricular (RV) dysfunction are common after tetralogy of Fallot repair (rTOF). We hypothesized that right bundle branch block is associated with specific RV mechanical dyssynchrony and inefficient contraction. We studied rTOF children and age-matched controls. QRS duration and morphology were assessed. RV mechanical dyssynchrony, indicated by early septal activation (right-sided septal flash), RV lateral wall prestretch/late contraction, postsystolic shortening, and intraventricular delay were analyzed using 2-dimensional strain echocardiography. Peak oxygen consumption reflected exercise capacity. Pulmonary regurgitation and RV volumes were assessed by MRI. Forty-six rTOF patients and 46 controls were studied. Ninety-three percent of rTOF patients demonstrated a right-sided septal flash with simultaneous RV basal lateral wall prestretch/late activation. The RV basal segment was the most delayed in onset (115 [0-194] versus 35 [0-96] ms) and termination (462 [369-706] versus 412 [325-529] ms) of longitudinal shortening, with postsystolic shortening. QRS duration correlated with RV basal time to onset and peak shortening (Pchildren, possibly contributing to progressive RV dysfunction. The potential of cardiac resynchronization in appropriate patients requires further study. © 2014 American Heart Association, Inc.

  2. Reproducibility of Cardiac Magnetic Resonance Imaging (CMRI)-Derived Right Ventricular Parameters in Repaired Tetralogy of Fallot (ToF).

    Science.gov (United States)

    Gnanappa, Ganesh Kumar; Rashid, Imran; Celermajer, David; Ayer, Julian; Puranik, Rajesh

    2018-03-01

    Quantification of right ventricular (RV) volumes is challenging owing to variable reproducibility and is especially so in congenital heart disease. Cardiac magnetic resonance (CMR) has the ability to more comprehensively survey the entire right ventricle and is currently considered the gold standard. We aimed to determine the inter-observer reproducibility of CMR-derived RV volumes generated by two independent and experienced (SCMR Level III) observers in Tetralogy of Fallot (ToF) patients with varying degrees of RV dilatation. We performed a retrospective analysis of 120 consecutive patients with repaired ToF who underwent CMR. Two blinded observers calculated RV volumes in each oblique short axis slice independently. Bland-Altman analysis and inter-observer correlation coefficients (ICC) were assessed. The coefficients of variation for RV parameters were: 2.9%, 8% and 3.4% for right ventricular end diastolic volume (RVEDV), right ventricular end systolic volume (RVESV) and right ventricular ejection fraction (RVEF) respectively. For RVEDV the interobserver correlation was 0.992 demonstrating excellent volumetric correlation between observers. The mean difference between the observers for right ventricular end diastolic volume index (RVEDVi) was 2.5ml/m 2 (95% limits of agreement -7.3 to 12.2ml/m 2 ). For patients with mild-moderate RV dilatation (RVEDVi rights reserved.

  3. Diagnostic value of Doppler echocardiography for identifying hemodynamic significant pulmonary valve regurgitation in tetralogy of Fallot: comparison with cardiac MRI.

    Science.gov (United States)

    Beurskens, Niek E G; Gorter, Thomas M; Pieper, Petronella G; Hoendermis, Elke S; Bartelds, Beatrijs; Ebels, Tjark; Berger, Rolf M F; Willems, Tineke P; van Melle, Joost P

    2017-11-01

    Quantification of pulmonary regurgitation (PR) is essential in the management of patients with repaired tetralogy of Fallot (TOF). We sought to evaluate the accuracy of first-line Doppler echocardiography in comparison with cardiac magnetic resonance imaging (MRI) to identify hemodynamic significant PR. Paired cardiac MRI and echocardiographic studies (n = 97) in patients with repaired TOF were retrospectively analyzed. Pressure half time (PHT) and pulmonary regurgitation index (PRi) were measured using continuous wave Doppler. The ratio of the color flow Doppler regurgitation jet width to pulmonary valve (PV) annulus (jet/annulus ratio) and diastolic to systolic time velocity integral (DSTVI; pulsed wave Doppler) were assessed. Accuracy of echocardiographic measurements was tested to identify significant PR as determined by phase-contrast MRI (PR fraction [PRF] ≥ 20%). Mean PRF was 29.4 ± 15.7%. PHT Doppler echocardiography, especially when combined, are highly accurate in identifying significant PR and therefore seem useful in the follow-up of patients with repaired TOF.

  4. Assessment of Microvolt T Wave Alternans in Children with Repaired Tetralogy of Fallot during 24-Hour Holter Electrocardiography.

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    Doksöz, Önder; Meşe, Timur; Karaarslan, Utku; Ceylan, Gökhan; Demirpençe, Savaş; Tavlı, Vedide; Ünal, Nurettin

    2016-07-01

    We aimed to examine microvolt T wave alternans (MTWA) in 24-hour Holter electrocardiography (ECG) of children with repaired tetralogy of Fallot (TOF) to assess associations of MTWA with ventricular arrhythmias, ECG parameters, and echocardiographic findings. Holter ECG records and archive files of 56 repaired TOF patients (62.5% male) who were analyzed retrospectively. Subjects' ECG parameters and MTWA values were compared with age-sex-matched control group. T wave changes were analyzed by time-domain-modified moving average method from the three channels of 24-hour Holter ECG. Mean age was 123.4 ± 48.3 months. Median MTWA value was 55.5 μV in the control group, whereas 95.5 μV in patients group (P < 0.001). A significant weak positive correlation was found between the presence of ventricular extrasystoles and tricuspid regurgitation. There was no correlation between ECG parameters, echocardiographic findings, and MTWA. MTWA was increased in children with repaired TOF as reported before. To our knowledge, this is the first study analyzing MTWA with 24-hour Holter ECG in repaired TOF patients. © 2015 Wiley Periodicals, Inc.

  5. 4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

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    Vande Perre, P; Zazo Seco, C; Patat, O; Bouneau, L; Vigouroux, A; Bourgeois, D; El Hout, S; Chassaing, N; Calvas, P

    2018-02-01

    Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations of FOXC1 and PITX2 are responsible for about 40% of the ARS cases. We describe the phenotype of a patient carrying a deletion encompassing the 4q25 locus containing PITX2 gene. This child presented with a congenital heart defect (Tetralogy of Fallot, TOF) and no signs of ARA. He is the first patient described with TOF and a complete deletion of PITX2 (arr[GRCh37]4q25(110843057-112077858)x1, involving PITX2, EGF, ELOVL6 and ENPEP) inherited from his ARS affected mother. In addition, to our knowledge, he is the first patient reported with no ocular phenotype associated with haploinsufficiency of PITX2. We compare the phenotype and genotype of this patient to those of five other patients carrying 4q25 deletions. Two of these patients were enrolled in the university hospital in Toulouse, while the other three were already documented in DECIPHER. This comparative study suggests both an incomplete penetrance of the ocular malformation pattern in patients carrying PITX2 deletions and a putative association between TOF and PITX2 haploinsufficiency. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  6. Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

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    Cordell, Heather J; Töpf, Ana; Mamasoula, Chrysovalanto; Postma, Alex V; Bentham, Jamie; Zelenika, Diana; Heath, Simon; Blue, Gillian; Cosgrove, Catherine; Granados Riveron, Javier; Darlay, Rebecca; Soemedi, Rachel; Wilson, Ian J; Ayers, Kristin L; Rahman, Thahira J; Hall, Darroch; Mulder, Barbara J M; Zwinderman, Aelko H; van Engelen, Klaartje; Brook, J David; Setchfield, Kerry; Bu'Lock, Frances A; Thornborough, Chris; O'Sullivan, John; Stuart, A Graham; Parsons, Jonathan; Bhattacharya, Shoumo; Winlaw, David; Mital, Seema; Gewillig, Marc; Breckpot, Jeroen; Devriendt, Koen; Moorman, Antoon F M; Rauch, Anita; Lathrop, G Mark; Keavney, Bernard D; Goodship, Judith A

    2013-04-01

    We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P = 1.4 × 10(-7)) and replicated convincingly (P = 3.9 × 10(-5)) in 798 cases and 2931 controls [per allele odds ratio (OR) = 1.27 in replication cohort, P = 7.7 × 10(-11) in combined populations]. Single nucleotide polymorphisms in the glypican 5 gene on chromosome 13q32 were also associated (P = 1.7 × 10(-7)) and replicated convincingly (P = 1.2 × 10(-5)) in 789 cases and 2927 controls (per allele OR = 1.31 in replication cohort, P = 3.03 × 10(-11) in combined populations). Four additional regions on chromosomes 10, 15 and 16 showed suggestive association accompanied by nominal replication. This study, the first genome-wide association study of a congenital heart malformation phenotype, provides evidence that common genetic variation influences the risk of TOF.

  7. Assessment of right ventricular function during exercise with quantitative Doppler tissue imaging in children late after repair of tetralogy of Fallot.

    Science.gov (United States)

    Harada, Kenji; Toyono, Manatomo; Yamamoto, Fumio

    2004-08-01

    Doppler tissue imaging (DTI) has been developed to assess ventricular wall-motion velocity quantitatively for patients with various types of heart disease. This technique has a possibility of assessing right ventricular (RV) function reserve during exercise. To investigate RV function during exercise using DTI, 21 patients (9.3 +/- 3.3 years) who had undergone operation for tetralogy of Fallot at 1 to 3 years of age and 19 age-matched healthy children were studied. Echocardiography combined with DTI was performed at rest and during supine bicycle submaximal exercise. DTI of tricuspid annulus movement during systole (Sa) was obtained from a 4-chamber view. RV pressure was estimated by maximal tricuspid regurgitation (TR) velocity. The peak value of the first derivation of RV pressure (peak dP/dt) was measured from the continuous wave Doppler-derived TR profile. Adequate spectral Doppler recordings of TR were obtained in all participants. However, 9 healthy children and 2 patients with tetralogy of Fallot were excluded from the study because of an inability to determine the entire spectral TR velocity envelope during exercise. Therefore, data were analyzed in 29 participants. At rest, the mean RV pressure for patients was higher than that in control subjects (27 +/- 4 vs 18 +/- 3 mm Hg, P exercise. However, the magnitude of increases in Sa and peak dP/dt was significantly less for patients than in control subjects (37 +/- 16 vs 66 +/- 19% and 42 +/- 10 vs 80 +/- 13%, P exercise. This technique has a potential as a useful indicator of the effect of exercise on RV systolic function. An insufficient increase in Sa suggests impaired response to exercise of RV in patients with tetralogy of Fallot.

  8. Comparison of different doses of ε-aminocaproic acid in children for tetralogy of Fallot surgery: clinical efficacy and safety.

    Science.gov (United States)

    Sarupria, Anju; Makhija, Neeti; Lakshmy, Ramakrishnan; Kiran, Usha

    2013-02-01

    The purpose of this study was to compare 2 different doses of ε-aminocaproic acid (EACA) and assess their relative efficacy and safety in children undergoing corrective surgery for tetralogy of Fallot (TOF). A prospective, randomized, controlled study. A tertiary care center. One hundred twenty children undergoing corrective surgery for TOF using cardiopulmonary bypass (CPB). Group 1 received 100 mg/kg of EACA after induction, upon initiation of CPB, and after protamine. Group 2 received 75 mg/kg of EACA after induction, followed by a maintenance infusion of 75 mg/kg/h until chest closure, and an additional 75 mg/kg upon initiation of CPB. Group 3 did not receive any antifibrinolytic agent or placebo. Cumulative mean blood loss, total packed red blood cells, and fresh frozen plasma requirements were significantly less in group 2 (p ≤ 0.01). There were no significant differences in the total platelet concentrate transfused, re-exploration rate, incidence of renal failure, arrhythmias, neurologic complications, mortality, or length of intensive care unit stay among the 3 groups. The incidences of perioperative ST/T changes and chest closure time were significantly less in group 1 and group 2 (p ≤ 0.01). The duration of mechanical ventilation was significantly less in group 2 (p ≤ 0.01). EACA was effective in reducing the postoperative blood loss and transfusion requirements in children undergoing corrective cardiac surgery on CPB for TOF. The dose regimen of 75 mg/kg after induction, followed by a maintenance infusion of 75 mg/kg/h until chest closure, and an additional 75 mg/kg upon initiation of CPB were more effective. Copyright © 2012 Elsevier Inc. All rights reserved.

  9. Artículo de actualización para formación continuada: Tetralogía de Fallot Update article for continuous education: Tetralogy of Fallot

    Directory of Open Access Journals (Sweden)

    Jaime A González L

    2008-06-01

    Full Text Available La tetralogía de Fallot es la cardiopatía congénita cianótica más frecuente en la población general, con una incidencia general de 0,1/1.000 nacidos vivos. El eje morfológico diagnóstico es el desplazamiento anterior izquierdo del septo infundibular -hacia la vía de salida ventricular derecha- durante el periodo de embriogénesis, lo que causa complejo de cabalgamiento aórtico, comunicación interventricular, estenosis subpulmonar e hipertrofia ventricular derecha. Sin intervención quirúrgica, su sobrevida al año alcanza 66% y sólo 10% a 15% en más de veinte años. La presentación clínica es variable y depende del grado de estenosis pulmonar; cuando ya es significativa en la etapa neonatal o en lactantes menores de tres a seis meses, pueden aparecer crisis de hipoxemia que requieren intervención médica o quirúrgica de urgencia. La corrección completa de la malformación ofrece buenos resultados de supervivencia durante décadas, si bien con las primeras técnicas -parche trans-anular y cierre del defecto interventricular- surgen problemas a largo plazo que pueden generar un riesgo adicional de morbimortalidad. La insuficiencia pulmonar severa, la presencia de dilatación ventricular derecha y el desarrollo de arritmias potencialmente fatales son problemas que se tornan importantes y que deben reconocerse a fin de valorar una reintervención temprana y reparar los defectos residuales inductores de arritmia. Las nuevas técnicas quirúrgicas tratan de conservar al máximo la integridad de la unión ventrículo-pulmonar y de la propia válvula, siempre y cuando la anatomía lo permita. Ello redunda, sin duda, en beneficio para el paciente ya que los problemas residuales descritos tienen menor significado clínico.The tetralogy of Fallot is the most frequent cyanotic congenital heart disease in the general population with a general incidence of 0.1/1000 live births. The morphologic diagnostic axis is the left anterior

  10. The role of blood lactate clearance as a predictor of mortality in children undergoing surgery for tetralogy of Fallot

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    Suruchi Ladha

    2016-01-01

    Full Text Available Background: The identification of biomarkers for predicting morbidity and mortality, particularly in pediatric population undergoing cardiac surgery will contribute toward improving the patient outcome. There is an increasing body of literature establishing the clinical utility of hyperlactatemia and lactate clearance as prognostic indicator in adult cardiac surgical patients. However, the relationship between lactate clearance and mortality risk in the pediatric population remains to be established. Objective: To assess the role of lactate clearance in determining the outcome in children undergoing corrective surgery for tetralogy of Fallot (TOF. Methods and Study Design: A prospective, observational study. Setting: A tertiary care center. Study Population: Two hundred children undergoing elective surgery for TOF. Study Method: Blood lactate levels were obtained as baseline before operation (T0, postoperatively at admission to the cardiac intensive care unit after surgery (T1, and then at every 6 h for the first 24 h of Intensive Care Unit (ICU stay (T6, T12, T18, and T24, respectively. The lactate clearance in the study is defined by the equation ([lactate initial - lactate delayed]/lactate initial ×100%. Lactate clearance was determined at T1-T6, T1-T12, T1-T18, and T1-T24 time interval, respectively. The primary outcome measured was mortality. Secondary outcomes measured were the duration of mechanical ventilation, duration of inotropic requirement, and duration of ICU stay. Results: Eleven out of the two hundred patients enrolled in the study died. Nonsurvivors had higher postoperative lactate concentration (P 10%, relative to patients with a lactate clearance 10% after 6 h have improved outcome compared with those with lower lactate clearance.

  11. Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.

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    Douglas C Bittel

    Full Text Available Tetralogy of Fallot (TOF is one of the most common severe congenital heart malformations. Great progress has been made in identifying key genes that regulate heart development, yet approximately 70% of TOF cases are sporadic and nonsyndromic with no known genetic cause. We created an ultra high-resolution gene centric comparative genomic hybridization (gcCGH microarray based on 591 genes with a validated association with cardiovascular development or function. We used our gcCGH array to analyze the genomic structure of 34 infants with sporadic TOF without a deletion on chromosome 22q11.2 (n male = 20; n female = 14; age range of 2 to 10 months. Using our custom-made gcCGH microarray platform, we identified a total of 613 copy number variations (CNVs ranging in size from 78 base pairs to 19.5 Mb. We identified 16 subjects with 33 CNVs that contained 13 different genes which are known to be directly associated with heart development. Additionally, there were 79 genes from the broader list of genes that were partially or completely contained in a CNV. All 34 individuals examined had at least one CNV involving these 79 genes. Furthermore, we had available whole genome exon arrays from right ventricular tissue in 13 of our subjects. We analyzed these for correlations between copy number and gene expression level. Surprisingly, we could detect only one clear association between CNVs and expression (GSTT1 for any of the 591 focal genes on the gcCGH array. The expression levels of GSTT1 were correlated with copy number in all cases examined (r = 0.95, p = 0.001. We identified a large number of small CNVs in genes with varying associations with heart development. Our results illustrate the complexity of human genome structural variation and underscore the need for multifactorial assessment of potential genetic/genomic factors that contribute to congenital heart defects.

  12. Mitogen-activated protein kinase signal pathways play an important role in right ventricular hypertrophy of tetralogy of Fallot.

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    Zhang, Hong-Shan; Wu, Qing-Yu; Xu, Ming; Zhou, Yu-Xiang; Shui, Chao-Xiang

    2012-07-01

    Tetralogy of Fallot (TOF) is the most common malformation of children with an incidence of approximately 10% of congenital heart disease patients. There can be a wide spectrum to the severity of the anatomic defects, which include ventricular septal defect, aortic override, right ventricular outflow tract obstruction, and right ventricular hypertrophy. We examined the relationship between right ventricular hypertrophy in patients with TOF and the gene expression of factors in the mitogen-activated protein kinase (MAPK) signal pathway. To gain insight into the characteristic gene(s) involved in molecular mechanisms of right ventricular hypertrophy in TOF, differential mRNA and micro RNA expression profiles were assessed using expression-based micro array technology on right ventricular biopsies from young TOF patients who underwent primary correction and on normal heart tissue. We then analyzed the gene expression of the MAPK signal pathway using reverse transcription-polymerase chain reaction (RT-PCR) in normals and TOF patients. Using the micro RNA chip V3.0 and human whole genome oligonucleotide microarray V1.0 to detect the gene expression, we found 1068 genes showing altered expression of at least two-fold in TOF patients compared to the normal hearts, and 47 micro RNAs that showed a significant difference of at least two-fold in TOF patients. We then analyzed these mRNAs and micro RNAs by target gene predicting software Microcosm Targets version 5.0, and determined those mRNA highly relevant to the right ventricular hypertrophy by RT-PCR method. There were obvious differences in the gene expression of factors in the MAPK signal pathway when using RT-PCR, which was consistent to the results of the cDNA microarray. The upregulation of genes in the MAPK signal pathway may be the key events that contribute to right ventricular hypertrophy and stunted angiogenesis in patients with TOF.

  13. Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.

    Science.gov (United States)

    Grunert, Marcel; Dorn, Cornelia; Schueler, Markus; Dunkel, Ilona; Schlesinger, Jenny; Mebus, Siegrun; Alexi-Meskishvili, Vladimir; Perrot, Andreas; Wassilew, Katharina; Timmermann, Bernd; Hetzer, Roland; Berger, Felix; Sperling, Silke R

    2014-06-15

    Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Its genetic basis is demonstrated by an increased recurrence risk in siblings and familial cases. However, the majority of TOF are sporadic, isolated cases of undefined origin and it had been postulated that rare and private autosomal variations in concert define its genetic basis. To elucidate this hypothesis, we performed a multilevel study using targeted re-sequencing and whole-transcriptome profiling. We developed a novel concept based on a gene's mutation frequency to unravel the polygenic origin of TOF. We show that isolated TOF is caused by a combination of deleterious private and rare mutations in genes essential for apoptosis and cell growth, the assembly of the sarcomere as well as for the neural crest and secondary heart field, the cellular basis of the right ventricle and its outflow tract. Affected genes coincide in an interaction network with significant disturbances in expression shared by cases with a mutually affected TOF gene. The majority of genes show continuous expression during adulthood, which opens a new route to understand the diversity in the long-term clinical outcome of TOF cases. Our findings demonstrate that TOF has a polygenic origin and that understanding the genetic basis can lead to novel diagnostic and therapeutic routes. Moreover, the novel concept of the gene mutation frequency is a versatile measure and can be applied to other open genetic disorders. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  14. A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome.

    Science.gov (United States)

    Liu, Jing; Hu, Hao; Ma, Na; Jia, Zhengjun; Zhou, Yuchun; Hu, Jiancheng; Wang, Hua

    2016-01-01

    Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported to be associated with 9qter duplications. A 23-year-old woman was referred for genetic counseling and prenatal diagnosis at 25(3/7) weeks of gestation due to her male fetus, diagnosed as Tetralogy of Fallot Syndrome (TOF) by prenatal ultrasound. SNP (Single nucleotide polymorphism) array revealed that the male fetus had a de novo 5.47 Mb duplication at 9q34.13-qter. Meanwhile, non-invasive prenatal testing (NIPT) using low coverage whole genome massively parallel sequencing of circulating cell-free fetal DNA (cffDNA) showed consistent results. Multiplex ligation-dependent probe amplification (MLPA) also confirmed the duplication at 9qter. In this paper, we present an Asian fetus with TOF caused by a de novo 5.47 Mb duplication at 9q34.13-qter. Duplication of 9q34.13-qter should be considered as an etiological diagnosis in the case of TOF. Our prenatal diagnostic findings provide important information for genetic counseling on the male fetus and future pregnancies in this family. Chromosomal microarray analysis (CMA) remains the first-tier clinical diagnostic test for prenatal fetus with suspicious syndromes. We also highlight the high potential application of NIPT in the screening of sub-chromosomal rearrangement.

  15. The Role of Conventional and Right-Sided ECG Screening for Subcutaneous ICD in a Tetralogy of Fallot Population.

    Science.gov (United States)

    Alonso, Pau; Osca, Joaquín; Cano, Oscar; Pimenta, Pedro; Andrés, Ana; Yagüe, Jaime; Millet, José; Rueda, Joaquín; Sancho-Tello, María José

    2017-02-01

    Information regarding suitability for subcutaneous implantable cardioverter-defibrillator (S-ICD) implant in tetralogy of Fallot (ToF) population is scarce and needs to be further explored. (1) to determine the proportion of patients with ToF eligible for S-ICD, (2) to identify the optimal sensing vector in ToF patients, (3) to test specifically the eligibility for S-ICD with right-sided screening, and (4) to compare with the proportion of eligible patients in a nonselected ICD population. We recruited 60 consecutive patients with ToF and 40 consecutive nonselected patients. Conventional electrocardiographic screening was performed as usual. Right-sided alternative screening was studied by positioning the left arm and right arm electrodes 1 cm right lateral to the xiphoid midline. The Boston Scientific electrocardiogram (ECG) screening tool was utilized. We found a higher proportion of patients with right-sided positive screening in comparison with standard screening (77 ± 0.4% vs. 67 ± 0.4%; P right-sided screening (1.3 ± 1 vs. 1.1 ± 1 ms; P = 0.07). Patients who failed the screening had a longer QRS duration and longer QT interval. Standard and right-sided screening showed a higher percent of positive patients in the control group compared to ToF patients (P Right-sided screening was associated with a significant 10% increase in S-ICD eligibility in ToF patients. When comparing with an acquired cardiomyopathies group, ToF showed a lower eligibility for S-ICD. The most appropriate ECG vector was the alternate vector in contrast to what is observed in the general population. © 2017 Wiley Periodicals, Inc.

  16. The value of right ventricular longitudinal strain in the evaluation of adult patients with repaired tetralogy of Fallot: a new tool for a contemporary challenge.

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    Almeida-Morais, Luís; Pereira-da-Silva, Tiago; Branco, Luísa; Timóteo, Ana T; Agapito, Ana; de Sousa, Lídia; Oliveira, José A; Thomas, Boban; Jalles-Tavares, Nuno; Soares, Rui; Galrinho, Ana; Cruz-Ferreira, Rui

    2017-04-01

    The role of right ventricular longitudinal strain for assessing patients with repaired tetralogy of Fallot is not fully understood. In this study, we aimed to evaluate its relation with other structural and functional parameters in these patients. Patients followed-up in a grown-up CHD unit, assessed by transthoracic echocardiography, cardiac MRI, and treadmill exercise testing, were retrospectively evaluated. Right ventricular size and function and pulmonary regurgitation severity were assessed by echocardiography and MRI. Right ventricular longitudinal strain was evaluated in the four-chamber view using the standard semiautomatic method. In total, 42 patients were included (61% male, 32±8 years). The mean right ventricular longitudinal strain was -16.2±3.7%, and the right ventricular ejection fraction, measured by MRI, was 42.9±7.2%. Longitudinal strain showed linear correlation with tricuspid annular systolic excursion (r=-0.40) and right ventricular ejection fraction (r=-0.45) (all pright ventricular fractional area change (r=0.50), pulmonary regurgitation colour length (r=0.35), right ventricular end-systolic volume (r=-0.60), and left ventricular ejection fraction (r=0.36) (all pright ventricular ejection fraction. The best threshold of longitudinal strain for predicting a right ventricular ejection fraction of Right ventricular longitudinal strain is a powerful method for evaluating patients with tetralogy of Fallot. It correlated with echocardiographic right ventricular function parameters and was independently associated with right ventricular ejection fraction derived by MRI.

  17. Dimensions of the ascending aorta in children and adolescents with repaired Tetralogy of Fallot obtained by cardiac magnetic resonance angiography.

    Science.gov (United States)

    Grothoff, Matthias; Mende, Meinhard; Graefe, Daniel; Daehnert, Ingo; Kostelka, Martin; Hoffmann, Janine; Freyhardt, Patrick; Lehmkuhl, Lukas; Gutberlet, Matthias; Mahler, Anne

    2016-03-01

    Dilatation of the ascending aorta is a common finding in Tetralogy of fallot (TOF). We sought to provide aortic dimensions in children and adolescents after corrected TOF obtained by contrast-enhanced cardiac-magnetic-resonance angiography (CE-CMRA) that could serve as reference values. We enrolled 101 children and adolescents (56 male) with a median age of 10.9 years. All patients underwent CE-CMRA imaging using a 3-dimensional spoiled gradient-echo-sequence. Aortic diameters were measured at the level of the aortic valve (AV), aortic sinus (AS), sino-tubular junction (STJ) and the ascending aorta (AA) and compared with normal values obtained from literature. Sex-specific aortic dimensions are given as percentile curves as well as z scores. Furthermore CMR volumetric and functional parameters as well as clinical and anamnestic data were analyzed to identify parameters that are associated with aortic dilatation. Diameters for aortic size for males were 3.6 + 16.6*BSA(0.5) at the AV level, 7.0 + 19.5*BSA(0.5) at the AS level, 7.0 + 14.4*BSA(0.5) at the STJ level and 7.3 + 15.5*BSA(0.5) at the AA level. Diameters for females were 5.8 + 14.1*BSA(0.5) at the AV level, 7.2 + 17.6*BSA(0.5) at the AS level, 5.2 + 15.4*BSA(0.5) at the STJ level and 2.0 + 17.8*BSA(0.5) at the AA level. All diameters in TOF patients were larger compared with normal values. The postoperative interval and age at examination were the only parameters associated with aortic size at all measured levels. We provide CE-CMRA data of aortic dimensions in children and adolescents after correction of TOF. Our data might be useful for an estimation of the "normal" aortic size in this patient cohort and can serve as a basis for future longitudinal studies adding prognostic data.

  18. The role of curcumin as an inhibitor of oxidative stress caused by ischaemia re-perfusion injury in tetralogy of Fallot patients undergoing corrective surgery.

    Science.gov (United States)

    Sukardi, Rubiana; Sastroasmoro, Sudigdo; Siregar, Nurjati C; Djer, Mulyadi M; Suyatna, Fransciscus D; Sadikin, Mohammad; Ibrahim, Nurhadi; Rahayuningsih, Sri E; Witarto, Arief B

    2016-03-01

    Cardiopulmonary bypass during tetralogy of Fallot corrective surgery is associated with oxidative stress, and contributes to peri-operative problems. Curcumin has been known as a potent scavenger of reactive oxygen species, which enhances the activity of antioxidants and suppresses phosphorylation of transcription factors involved in inflamation and apoptosis. To evaluate the effects of curcumin as an antioxidant by evaluating the concentrations of malondialdehyde and glutathione, activity of nuclear factor-kappa B, c-Jun N-terminal kinase, caspase-3, and post-operative clinical outcomes. Tetralogy of Fallot patients for corrective surgery were randomised to receive curcumin (45 mg/day) or placebo orally for 14 days before surgery. Malondialdehyde and glutathione concentrations were evaluated during the pre-ischaemia, ischaemia, re-perfusion phases, and 6 hours after aortic clamping-off. Nuclear factor-kappa B, c-Jun N-terminal kinase, and caspase-3, taken from the infundibulum, were assessed during the pre-ischaemia, ischaemia, and re-perfusion phases. Haemodynamic parameters were monitored until day 5 after surgery. In all the observation phases, malondialdehyde and glutathione concentrations were similar between groups. There was no significant difference in nuclear factor-kappa B activity between the groups for three observations; however, in the curcumin group, c-Jun N-terminal kinase significantly decreased from the pre-ischaemia to the re-perfusion phases, and caspase-3 expression was lower in the ischaemia phase. Patients in the curcumin group had lower temperature and better ventricular functions, but no significant differences were found in mechanical ventilation day or length of hospital stay in the two groups. Cardioprotective effects of curcumin may include inhibition of the c-Jun N-terminal kinase pathway and caspase-3 in cardiomyocytes, particularly in the ischaemia phase.

  19. Correlation of Fragmented QRS with Right Ventricular Indexes and Fibrosis in Patients with Repaired Tetralogy of Fallot, by Cardiac Magnetic Resonance Imaging

    Directory of Open Access Journals (Sweden)

    Zahra Alizadeh Sani

    2017-09-01

    Full Text Available Background: Repair of tetralogy of fallot (TOF is associated with diffuse myocardial fibrosis. Cardiac magnetic resonance imaging (CMR can visualize the areas with myocardial fibrosis. Presence of fragmented QRS (fQRS implies the presence of the underlying myocardial scar. Despite the strong association between fQRS and myocardial pathologies, the impact of fQRS with myocardial fibrosis in post-TOF correction is unknown. Objectives: Here, we evaluated the possible predictive role of fQRS in repaired TOF cases and its relationship with cardiac function. Patients and Methods: Thirty two patients with previous history of repaired TOF were enrolled. The extent of fQRS was evaluated according to the number of leads with fQRS. After electrocardiographic evaluation, the participants underwent CMR. Results: Results showed a significant relationship between the right ventricular (RV systolic diameter and fQRS (P = 0.014. Also, an inverse linear relationship was found between the number of fQRS edges and RVEF (r = 0.77, P = 0.0001. The mean QRS duration in those with positive and negative fQRS was 132 mm and 115.8 mm (P = 0.0001. Furthermore, a linear correlation was observed between the number of edges and the percentage of scar tissue (r = 0.88, P = 0.001. However, no relevance between gender and fQRS was detected (P = 0.26, and the relationship between RV diastolic diameter and fQRS was not significant (P = 0.1. Thus, fQRS could be used as a marker of RV systolic dysfunction in patients with tetralogy of fallot. Conclusions: We suggested the fQRS as a surrogate indicator of RV dysfunction in repaired TOF patients and showed that diagnostic and prognostic information of the patients were available by fQRS.

  20. Tetralogy of Fallot with Pulmonary Obstruction at the Level of the ...

    African Journals Online (AJOL)

    1974-04-06

    Apr 6, 1974 ... to the Department of Anatomy, University of Pretoria. During routine dissection of the thorax by ... Department of Anatomy and Histology, University of Pretoria. T. MULLER, M.B. CH.B. Date received: 12 .... spina bifida, umbilical hernia, atresia ani, cleft palate, hare-lip and stenosis of the oesophagus.

  1. Sedation of hypercyanotic spells in a neonate with tetralogy of Fallot using dexmedetomidine

    National Research Council Canada - National Science Library

    Senzaki, Hideaki; Ishido, Hirotaka; Iwamoto, Yoichi; Taketazu, Mio; Kobayashi, Toshiki; Katogi, Toshiyuki; Kyo, Shunei

    2008-01-01

    ...) to ameliorate and prevent recurrence of cyanosis. This case report illustrates the effectiveness of dexmedetomidine-induced sedation in the management of hypercyanotic spells in a neonate with TOF...

  2. Impact of perioperative transesophageal echocardiography on tetralogy of fallot total repair

    Directory of Open Access Journals (Sweden)

    Yasmin Abdel Razek

    2014-03-01

    Conclusion: TEE imaging is a safe, feasible, and accurate tool for anatomical, hemodynamic, and functional assessment in patients with TOF during surgical repair. TEE offers the advantage of permitting visualization of the operative procedure in real time and provides guidance for the surgeon in making decisions inside the operating room.

  3. Uncorrected tetralogy of fallot in a 47 year old Nigerian man: a case ...

    African Journals Online (AJOL)

    This has been attributed to relatively small degrees of left ventricular outflow tract (LVOT) obstruction and/or presence of congenital aorto-pulmonary shunts. Very few cases of uncorrected TOF in adults have been reported in Africa. We report this case of uncorrected TOF in a 47 year old Nigerian man to highlight this rare ...

  4. Tetralogy of Fallot and HIV infection in pregnancy: A case report ...

    African Journals Online (AJOL)

    ... tolerance (9 LBW and 4 NBW individuals)and 1 case of impaired fasting glucose (LBW individual).LBW was associated with an odds ratio of 3.1 for impaired glucose tolerance and it was statistically significant, p<0.05 (p=0.027). Conclusion: Low birth weight was associated with glucose intolerance and significantly higher ...

  5. Ludwig's angina following herpetic gingivostomatitis in a toddler with tetralogy of Fallot.

    Science.gov (United States)

    Chen, Chih-Jung; Huang, Yhu-Chering; Lin, Tzou-Yien

    2004-04-01

    Ludwig's angina is a rare but potentially lethal cellulitis of the submandibular space that occurs most often in young adults with predisposing odontogenic infection. In contrast to adult cases, most children with Ludwig's angina have no initiating factor. We report a case of Ludwig's angina in a 15-month-old boy which developed after an episode of herpetic gingivostomatitis. Under close monitoring of respiratory status, the condition was successfully managed with antibiotic treatment. This case illustrates that Ludwig's angina can develop in association with herpetic gingivostomatitis, which is a common and usually self-limited disease in pediatric patients. Prompt recognition and aggressive management of this rare and severe secondary bacterial infection are the keys to avoiding unnecessary morbidity and mortality.

  6. O miocárdio na tetralogia de Fallot: estudo histológico e morfométrico El miocardio en la tetralogía de Fallot: estudio histológico y morfométrico The myocardium in tetralogy of Fallot: a histological and morphometric study

    Directory of Open Access Journals (Sweden)

    Maria Cecília Knoll Farah

    2009-03-01

    ventriculares para estudios morfométricos.BACKGROUND: Patients with Tetralogy of Fallot frequently develop ventricular dysfunction in the postoperative period. The histological basis of this functional alteration has been scarcely studied. OBJECTIVE: To evaluate myocardial remodeling in anatomical specimens, comparing the subepicardial and subendocardial regions, especially because the subendocardial region is easily approached by means of endomyocardial biopsy. METHODS: Transmural sections of myocardium from the right ventricular (RV inflow tract, anterior wall and infundibulum, and from the left ventricular (LV free wall were evaluated regarding the degree of cardiomyocyte hypertrophy, vascularization and interstitial fibrosis were analyzed. RESULTS: The mean diameter of subendocardial cardiomyocytes is similar to that of subepicardial cardiomyocytes in all regions, except for the RV infundibulum, in which subendocardial cardiomyocytes are significantly larger in relation to those of the subepicardium (p=0.007. The amount of interstitial collagen is in the upper limits of normal and was similar in the subendocardial layers in comparison with the subpericardial layer of each region; however, it was greater in the inflow tract and RV anterior wall than in the LV lateral wall. The numerical density of subendocardial capillaries was similar to that of the subepicardium and was lower than the mean minus two standard deviations of normal in all regions and layers, except for the infundibulum, in which the subepicardium showed normal values and the subendocardium showed values lower than the mean minus two standard deviations. CONCLUSION: The postnatal myocardial changes in Tetralogy of Fallot are homogeneously distributed in the subepicardial and subendocardial halves of the ventricular walls, except for the infundibulum, which has peculiar remodeling characteristics and, therefore, is not representative of the other ventricular regions and layers for morphometric studies.

  7. Assessment of intracardiac flow and vorticity in the right heart of patients after repair of tetralogy of Fallot by flow-sensitive 4D MRI

    Energy Technology Data Exchange (ETDEWEB)

    Hirtler, Daniel [University Hospital Freiburg, Department of Congenital Heart Defects and Pediatric Cardiology (Heart Center, University of Freiburg), Freiburg (Germany); Garcia, Julio; Barker, Alex J. [Northwestern University Feinberg School of Medicine, Department of Radiology, Chicago, IL (United States); Geiger, Julia [University Childrens' Hospital Zurich, Department of Radiology, Zurich (Switzerland)

    2016-10-15

    To comprehensively and quantitatively analyse flow and vorticity in the right heart of patients after repair of tetralogy of Fallot (rTOF) compared with healthy volunteers. Time-resolved flow-sensitive 4D MRI was acquired in 24 rTOF patients and 12 volunteers. Qualitative flow evaluation was based on consensus reading of two observers. Quantitative analysis included segmentation of the right atrium (RA) and ventricle (RV) in a four-chamber view to extract volumes and regional haemodynamic information for computation of regional mean and peak vorticity. Right heart intra-atrial, intraventricular and outflow tract flow patterns differed considerably between rTOF patients and volunteers. Peak RA and mean RV vorticity was significantly higher in patients (p = 0.02/0.05). Significant negative correlations were found between patients' maximum and mean RV and RA vorticity and ventricular volumes (p < 0.05). The main pulmonary artery (MPA) regurgitant flow was associated with higher RA and RV vorticity, which was significant for RA maximum and RV mean vorticity (p = 0.01/0.03). The calculation of vorticity based on 4D flow data is an alternative approach to assess intracardiac flow changes in rTOF patients compared with qualitative flow visualization. Alterations in intracardiac vorticity could be relevant with regard to the development of RV dilation and impaired function. (orig.)

  8. Effect of dexmeditomidine on postoperative junctional ectopic tachycardia after complete surgical repair of tetralogy of Fallot: A prospective randomized controlled study

    Directory of Open Access Journals (Sweden)

    Shankar V Kadam

    2015-01-01

    Full Text Available Introduction: Incidence of junctional ectopic tachycardia (JET after repair of tetralogy of Fallot (TOF is 5.6-14%. Dexmeditomidine is a a-2 adrenoceptor agonist modulates the release of catecholamine, resulting in bradycardia and hypotension. These effects are being explored as a therapeutic option for the prevention of perioperative tachyarrhythmia. We undertook this study to examine possible preventive effects of dexmedetomidine on postoperative JET and its impact on the duration of ventilation time and length of Intensive Care Unit stay. Methods: After obtaining approval from the hospitals ethics committee and written informed consent from parents, this quasi-randomized trial was initiated. Of 94 patients, 47 patients received dexmedetomidine (dexmedetomidine group and 47 patients did not receive the drug (control group. Results: Dexmedetomidine group had more number of complex variants like TOF with an absent pulmonary valve or pulmonary atresia (P = 0.041. Hematocrit on cardiopulmonary bypass (CPB, heart rate while coming off from CPB and inotrope score was significantly low in the dexmedetomidine group compared to control group. The incidence of JET was significantly low in dexmedetomidine group (P = 0.040 compared to control group. Conclusions: Dexmedetomidine may have a potential benefit of preventing perioperative JET.

  9. Catheter Ablation of a Complex Atrial Tachycardia after Surgical Repair of Tetralogy of Fallot Guided by Combined Noncontact and Contact Mapping

    Directory of Open Access Journals (Sweden)

    Eitaro Fujii, MD

    2010-01-01

    Full Text Available A 34-year-old man with a surgically repaired Tetralogy of Fallot complained of palpitation, fatigue, and presyncope. A 12-lead ECG showed atrial tachycardia with a cycle length of 250 ms and a P wave morphology positive in leads II, III and aVF, and negative in lead V1. Although the EnSite system (version 6.OJ made use of noncontact mapping to delineate the counterclockwise reentry around the crista tenninalis, it was difficult to rule out the incisional atrial reentry because the location of the surgical incision was far from the multi-electrode array. Since the bipolar contact mapping of the EnSite system revealed the location of the atriotomy incision, entrainment mapping during the tachycardia demonstrated the critical reentry circuit around the crista terminalis. Radiofrequency ablation targeting the critical isthmus from the lower position of the crista terminalis to the posterior dense scar which was continuous with the inferior vena cava, and to the atriotomy scar, eliminated the tachycardia.

  10. Left Ventricular Mechanics in Repaired Tetralogy of Fallot with and without Pulmonary Valve Replacement: Analysis by Three-Dimensional Speckle Tracking Echocardiography

    Science.gov (United States)

    Li, Shu-na; Yu, Wei; Lai, Clare Tik-man; Wong, Sophia J.; Cheung, Yiu-fai

    2013-01-01

    Background Altered septal curvature and left ventricular (LV) geometry secondary to right ventricular (RV) dilation render two-dimensional assessment of LV mechanics difficult in repaired tetralogy of Fallot (TOF) patients. The novel three-dimensional (3D) speckle tracking echocardiography enables comprehensive evaluation of true 3D LV mechanics. Methods and Results Seventy-six patients aged 23.6±8.3 years, 55 with isolated repair (group I) and 21 with subsequent pulmonary valve replacement (group II), and 34 healthy controls were studied. Three-dimensional volume datasets were acquired for assessment of LV global and regional 3D strain, systolic dyssynchrony index (SDI), twist, twist gradient (twist/LV length), and ejection fraction. A global performance index was calculated as (global 3D strain•twist gradient)/SDI. The septal curvature and LV eccentricity were determined from the mid-ventricular short-axis. Compared with controls, group I and II patients had significantly reduced LV global 3D strain, LV twist, twist gradient, septal curvature, and global performance index, and greater LV systolic and diastolic eccentricity and SDI (all prepaired TOF patients with and without pulmonary valve replacement. PMID:24223166

  11. Quantification of pulmonary regurgitation in patients with repaired Tetralogy of Fallot by 2D phase-contrast MRI: Differences between the standard method of velocity averaging and a pixel-wise analysis.

    Science.gov (United States)

    Sotelo, Julio; Bächler, Pablo; Urbina, Jesús; Crelier, Gerard; Toro, Lida; Ferreiro, Myriam; Valverde, Israel; Andia, Marcelo; Tejos, Cristian; Irarrazaval, Pablo; Uribe, Sergio

    2017-01-01

    To compare the values of pulmonary regurgitation in patients with repaired Tetralogy of Fallot quantified from two-dimensional phase-contrast data, by using a new pixel-wise analysis and the standard velocity-averaging method. Quantitative in silico and in vivo analysis. Hospital Sótero del Río. The magnetic resonance images were acquired using a Philips Achieva 1.5T scanner. Twenty-five patients with repaired Tetralogy of Fallot who underwent cardiovascular magnetic resonance imaging requested by their referring physicians were included in this study. Using a computational fluid dynamics simulation, we validated our pixel-wise method, quantifying the error of our method in comparison with the standard method. The patients underwent a standard two-dimensional phase-contrast magnetic resonance imaging acquisition for quantifying pulmonary artery flow. Pulmonary regurgitation fraction was estimated by using our pixel-wise and the standard method. The two-dimensional flow profiles were inspected looking for simultaneous antegrade and retrograde flows in the same cardiac phase. Statistical analysis was performed with t-test for related samples, Bland-Altman plots, and Pearson correlation coefficient. Estimation of pulmonary regurgitation fraction using the pixel-wise analysis revealed higher values compared with the standard method (39 ± 16% vs. 30 ± 22%, p-value <0.01). Eight patients (32%) had a difference of more than 10% between methods. Analysis of two-dimensional flow profiles in these patients revealed simultaneous antegrade and retrograde flows through the pulmonary artery during systole-early diastole. Quantification of pulmonary regurgitation fraction in patients with repaired Tetralogy of Fallot through a pixel-wise analysis yields higher values of pulmonary regurgitation compared with the standard velocity-averaging method.

  12. Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot.

    Directory of Open Access Journals (Sweden)

    Vikas Bansal

    Full Text Available Copy number variations (CNVs are one of the main sources of variability in the human genome. Many CNVs are associated with various diseases including cardiovascular disease. In addition to hybridization-based methods, next-generation sequencing (NGS technologies are increasingly used for CNV discovery. However, respective computational methods applicable to NGS data are still limited. We developed a novel CNV calling method based on outlier detection applicable to small cohorts, which is of particular interest for the discovery of individual CNVs within families, de novo CNVs in trios and/or small cohorts of specific phenotypes like rare diseases. Approximately 7,000 rare diseases are currently known, which collectively affect ∼6% of the population. For our method, we applied the Dixon's Q test to detect outliers and used a Hidden Markov Model for their assessment. The method can be used for data obtained by exome and targeted resequencing. We evaluated our outlier-based method in comparison to the CNV calling tool CoNIFER using eight HapMap exome samples and subsequently applied both methods to targeted resequencing data of patients with Tetralogy of Fallot (TOF, the most common cyanotic congenital heart disease. In both the HapMap samples and the TOF cases, our method is superior to CoNIFER, such that it identifies more true positive CNVs. Called CNVs in TOF cases were validated by qPCR and HapMap CNVs were confirmed with available array-CGH data. In the TOF patients, we found four copy number gains affecting three genes, of which two are important regulators of heart development (NOTCH1, ISL1 and one is located in a region associated with cardiac malformations (PRODH at 22q11. In summary, we present a novel CNV calling method based on outlier detection, which will be of particular interest for the analysis of de novo or individual CNVs in trios or cohorts up to 30 individuals, respectively.

  13. Tricuspid annular plane systolic excursion in the assessment of right ventricular function in children and adolescents after repair of tetralogy of Fallot.

    Science.gov (United States)

    Mercer-Rosa, Laura; Parnell, Aimee; Forfia, Paul R; Yang, Wei; Goldmuntz, Elizabeth; Kawut, Steven M

    2013-11-01

    Assessing right ventricular (RV) performance is essential for patients with tetralogy of Fallot (TOF). The aim of this study was to investigate the reliability and validity of tricuspid annular plane systolic excursion (TAPSE) against cardiac magnetic resonance imaging measures and cardiopulmonary exercise testing. A retrospective study was performed in 125 outpatients with repaired TOF with available protocol-driven echocardiography, cardiac magnetic resonance imaging, and exercise stress testing obtained as part of a cross-sectional study. TAPSE was measured on the two-dimensional apical four-chamber view on echocardiography by two readers. Multivariate linear regression was used to examine the association between TAPSE and measures of RV function and exercise capacity. The mean age was 12.6 ± 3.3 years, 41 patients (33%) were female, and 104 (83%) were white. TAPSE averaged 1.6 ± 0.37 cm, with an interreader intraclass correlation coefficient of 0.78 (n = 18). TAPSE was significantly associated with cardiac magnetic resonance-based RV stroke volume after adjustment for gender and body surface area (β = 13.8; 95% confidence interval, 2.25-25.30; P = .02). TAPSE was not associated with cardiac magnetic resonance-based RV ejection fraction (P = .77). On exercise testing, TAPSE was not associated with peak oxygen consumption, percentage of predicted oxygen consumption, oxygen pulse, or the ventilatory equivalent for carbon dioxide in patients with maximal exercise stress testing (n = 73 [58%]). TAPSE is reproducibly measured by echocardiography in patients with TOF. It is not associated with RV ejection fraction or exercise performance, and its association with RV stroke volume may be confounded by body size. On the basis of these results, TAPSE is not representative of global RV performance in patients with TOF. Copyright © 2013 American Society of Echocardiography. Published by Mosby, Inc. All rights reserved.

  14. Feasibility and safety of on table extubation after corrective surgical repair of tetralogy of Fallot in a developing country: A case series

    Directory of Open Access Journals (Sweden)

    Mohammad Irfan Akhtar

    2015-01-01

    Full Text Available Fast-track extubation is an established safe practice in pediatric congenital heart disease (CHD surgical patients. On table extubation (OTE in acyanotic CHD surgical patients is well established with validated safety profile. This practice is not yet reported in tetralogy of Fallot (TOF cardiac surgical repair patients in developing countries. Evidence suggests that TOF total correction patients should be extubated early, as positive pressure ventilation has a negative impact on right ventricular function and the overall increase in post-TOF repair complications such as low cardiac output state and arrhythmias. The objective of the case series was to determine the safety and feasibility of OTE in elective TOF total correction cardiac surgical patients with an integrated team approach. To the best of our knowledge, this is the first reported case series. A total of 8 elective male and female TOF patients were included. Standard anesthetic, surgical and perfusion techniques were used in these procedures. All patients were extubated in the operating room safely without any complications with the exception of one patient who continued to bleed for 3 h of postextubation at 2-3 ml/kg/h which was managed with transfusion of fresh frozen plasma at 15 mL/kg, packed red blood cells 10 mL/kg and bolus of transamine at 20 mg/kg. Apart from better surgical and bypass techniques, the most important factor leading to successful OTE was an excellent analgesia. On the basis of the case series, it is suggested to extubate selected TOF cardiac surgery repair patients on table safely with integrated multidisciplinary approach.

  15. Hybrid perventricular pulmonary valve perforation and right ventricular outflow stent placement: a case report of a premature, 1.3-kg neonate with tetralogy of Fallot and pulmonary atresia.

    Science.gov (United States)

    Zampi, Jeffrey D; Armstrong, Aimee K; Hirsch-Romano, Jennifer C

    2014-04-01

    Premature infants with very low birth weight with tetralogy of Fallot and pulmonary atresia (TOF/PA) have been shown to have poor surgical outcomes. Palliating these patients by stenting the right ventricular outflow tract (RVOT) has been shown to be safe and effective. In patients with very low birth weight, a hybrid perventricular approach offers the ability to perform pulmonary valve perforation and RVOT stent placement while avoiding cardiopulmonary bypass and femoral vessel complications in the neonatal period. We present a hybrid perventricular treatment of a patient weighing 1.3 kg with TOF/PA.

  16. Perioperative levels of tumor necrosis factor-α correlate with outcomes in children and adults with tetralogy of Fallot undergoing corrective surgery.

    Science.gov (United States)

    Sethi, Brijindera Singh; Kapoor, Poonam Malhotra; Chauhan, Sandeep; Chowdhury, Ujjwal K; Kiran, Usha; Choudhury, Minati

    2014-01-01

    Previous studies reporting on tumor necrosis factor-α (TNF-α) as a marker of inflammatory response (IR) in patients with congenital heart disease were limited by small sample size and variability in diagnosis. We report perioperative changes in TNF-α levels and their correlation with preoperative factors and clinical outcomes in a large homogenous group of patients with tetralogy of Fallot (TOF) undergoing definitive repair at a tertiary care center. A total of 167 patients were divided into four groups on the basis of age. Group 1 included infants less than 1 year, group 2 included children between 1 and 12 years, group 3 included adolescents between 12 and 18 years, and group 4 included adults more than 18 years of age. Serum TNF-α levels were measured at three time points and correlated with perioperative variables. The baseline TNF-α level correlated with patients' nutritional status and degree of cyanosis in all four groups. The magnitude of IR in the postcardiopulmonary bypass (post-CPB) period as measured by TNF-α level was much higher and correlated more consistently with adverse clinical outcomes in the younger age group (groups 1 and 2). On multivariable analysis; age at operation, preoperative degree of hypoxemia and TNF-α levels were found to be independent predictors of clinical outcomes. We demonstrated a rise in serum TNF-α levels in patients with TOF undergoing definitive repair on CPB, which correlated with preoperative severity of cyanosis, nutritional status, and adverse clinical outcomes. The TNF-α levels may be monitored to identify cyanotic patients at an increased risk of exhibiting augmented IR to CPB.

  17. Doppler-derived strain and strain rate imaging assessment of right ventricular systolic function in adults late after tetralogy of Fallot repair: an observational study.

    Science.gov (United States)

    Sadeghpour, Anita; Kyavar, Majid; Madadi, Shabnam; Ebrahimi, Leili; Khajali, Zahra; Sani, Zahra Alizadeh

    2013-09-01

    Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease. Today, we are faced with an increasing number of patients with residual pulmonary regurgitation (PR) late after TOF repair. The right ventricular (RV) volumes and function are among the most important factors influencing clinical decision-making. Cardiac magnetic resonance (CMR) is the gold standard method for the quantitative assessment of the RV function; it is, however, expensive for routine clinical follow-up and sometimes is contraindicated. We sought to evaluate the RV systolic function via CMR and compare it with Doppler-derived strain(S) and strain rate (SR) imaging in patients with repaired TOF. In an observational cross-sectional study, 70 patients (22 women, mean age=22±4.9 years) late after TOF repair with severe PR were evaluated. Peak systolic strain and SR in the basal, mid, and apical segments of RV free wall (RVFW) were measured and compared with the RV function measured in the short-axis cine MR. Associations between RVEF and S/SR, investigated by ordinal logistic regression models. Significant association was observed between RV function and mean S of all the three segments of the RVFW segments [OR (CI95%): 1.17 (1.05-1.31)]. Association between RV function and mean SR of all the three segments of the RVFW segments was borderline significant [OR (CI95%): 1.7 (0.97-2.93)]. There was a significant correlation between the Doppler-derived mean strain of RVFW and the RV function measured by CMR in adults late after TOF repair. These quantitative methods improved the assessment of the RV function and served as an additional method to follow up patients with contraindications to CMR.

  18. Myocardial ECV Fraction Assessed by CMR Is Associated With Type of Hemodynamic Load and Arrhythmia in Repaired Tetralogy of Fallot.

    Science.gov (United States)

    Chen, Chun-An; Dusenbery, Susan M; Valente, Anne Marie; Powell, Andrew J; Geva, Tal

    2016-01-01

    The aim of this study was to investigate the extent of diffuse myocardial fibrosis by measuring left (LV) and right ventricular (RV) extracellular volume fraction (ECV) in patients with repaired tetralogy of Fallot (rTOF) and to explore its association with ventricular remodeling, hemodynamic load, and clinical parameters. Focal myocardial fibrosis is prevalent in patients with rTOF. However, little is known about the extent of diffuse myocardial fibrosis and its clinical implications in this population. We measured ECV by pre- and post-gadolinium T1 measurements using a 1.5-T scanner in 84 patients with rTOF (median age 23.3 years). LV ECV was determined by averaging values from 6 short-axis mid-ventricular segments, and RV ECV was calculated by averaging values from the anterior-inferior and the diaphragmatic RV wall segments. LV ECV above the upper limit of normal (>28%) was observed in 11 patients and for RV ECV (>41%) in 9 patients. LV ECV correlated positively with RV ECV (r = 0.54; p ECV was associated with female gender, lower RV mass-to-volume ratio, lower RV outflow tract pressure gradient, and having volume overload as the predominant hemodynamic burden (all p ECV. In multivariable analysis, increased LV ECV was independently associated with arrhythmia, adjusting for age and RV mass index (odds ratio: 5.69; p = 0.031). In this cohort, LV and RV ECV values were positively correlated, indicating an adverse ventricular-ventricular interaction at the tissue level. Increased ECV was associated with RV volume overload and arrhythmia. These findings may lead to future studies exploring the role of ECV in improving risk stratification and guiding therapeutic interventions. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  19. The Impact of the Right Ventricular Outflow Tract Patch on Right Ventricular Strain in Tetralogy of Fallot: A Comparison with Valvar Pulmonary Stenosis Utilizing Cardiac Magnetic Resonance.

    Science.gov (United States)

    Anwar, Shafkat; Harris, Matthew A; Whitehead, Kevin K; Keller, Marc S; Goldmuntz, Elizabeth; Fogel, Mark A; Mercer-Rosa, Laura

    2017-03-01

    A non-contractile transannular patch (TAP) in the right ventricular outflow tract (RVOT) contributes to ventricular dysfunction after tetralogy of Fallot (TOF) repair. We compared regional right ventricular (RV) strain in repaired TOF with valvar pulmonary stenosis (VPS) after balloon valvuloplasty to investigate the effects of TAP. Retrospective review of 26 cardiac magnetic resonance studies of TOF (n = 13) and VPS (n = 13) subjects matched by degree and duration of pulmonary regurgitation (PR). Feature tracking strain analysis was performed. Student's t tests, Pearson correlation, and linear regression were applied. RV ejection fraction (EF) was normal and similar between TOF and VPS (60 and 65%, respectively, p = 0.8). RV 4-chamber Lagrangian longitudinal strain (RV 4ch LS) was worse in both groups compared to normals but comparable to each other: -18.2 (95% CI -3.6 to -33) for TOF and -20.2 (95% CI -12.4 to -28) for VPS, p = 0.5. RVOT LS was worse than RV 4ch LS in TOF, p = 0.05, but not in VPS, p = 0.19. There were no significant differences in RVOT strain between groups, p = 0.18. RVOT strain and RV 4ch LS correlated positively with RV EF in VPS (r = 0.72, p = 0.003 and r = 0.55, p = 0.04). PR degree correlated negatively with RVOT LS for TOF and VPS. Longitudinal strain is diminished in VPS and TOF subjects with preserved RV EF. TAP could explain worse RVOT strain in TOF. Longitudinal studies are needed to ascertain if RV strain predicts worsening of RV EF.

  20. Distinctive Hemodynamics in the Immediate Postoperative Period of Patients with a Longer Cardiac Intensive Care Stay Post-Tetralogy of Fallot Repair.

    Science.gov (United States)

    Beg, Kisha A; Haq, Anwarul; Amanullah, Muneer; Laique, Sobia N; Sadqani, Saleem; Aslam, Nadeem; Rehmat, Amina Wali; Hasan, Babar S

    2015-01-01

    After complete surgical repair the majority of tetralogy of Fallot (ToF), patients stay ≤2 days in the Cardiac Intensive Care Unit (CICU) while some may stay longer. We undertook this study to investigate the factors associated with shorter vs. longer length of stay in the CICU to help manage resources effectively. Patients who underwent ToF repair at Aga Khan University, Pakistan, between July 2006 and December 2011 were studied in a case-control design. Clinical parameters were compared between short stay group (SSG) (≤2 days) and long stay group (LSG) (>2 days). Odds ratios were calculated, and regression was performed. Ninety-eight patients (LSG 65, SSG 33) were included. Patients with lower preoperative saturation were 2.67 times more likely to be in the LSG group (P = .02). At 4 hours postoperatively, patients with a higher inotropic score (odds ratio [OR] = 3.03, confidence interval [CI] = 1.19-7.7, P = .02), higher central venous pressure (OR = 3.04, CI = 1.27-7.32, P = .013), and significant tachycardia at 4 hours (OR = 3.5, CI = 1.19-10.3. P = .02) were at risk for having a prolonged CICU stay. On multivariate analysis, significant postoperative tachycardia at 4 hours (z-score ≥3) was highly specific (sensitivity = 38.5%, specificity = 84.9%) for predicting the chances of being in the LSG. Other predictors included preop O(2) saturation ≤82.5% (sensitivity = 61.1%, specificity = 63.0%) and CVP ≥10 mm Hg at 4 hours (sensitivity = 55.4%, specificity = 71.9%). Patients who end up staying longer in the CICU have features that are distinctive in the immediate postoperative period, and this can help clinicians in identifying patients who may need more support. © 2015 Wiley Periodicals, Inc.

  1. Impaired right and left ventricular function in asymptomatic children with repaired tetralogy of Fallot by two-dimensional speckle tracking echocardiography study.

    Science.gov (United States)

    Li, Yuman; Xie, Mingxing; Wang, Xinfang; Lu, Qing; Zhang, Li; Ren, Pingping

    2015-01-01

    Early detection of right ventricular (RV) and left ventricular (LV) dysfunction in patients with repaired tetralogy of Fallot (TOF) is essential because dysfunction is correlated with a poor clinical outcome. The aim of this study was to assess RV and LV function in asymptomatic children with repaired TOF by two-dimensional ultrasound speckle tracking echocardiography (STE). Fifty-six asymptomatic children with a preserved biventricular ejection fraction (EF) after repair of TOF and 35 healthy control subjects were studied. RV and LV strain and strain rate were measured by STE. RVEF and pulmonary regurgitation (PR) were assessed using cardiac magnetic resonance imaging. Compared with the control subjects, RV regional longitudinal strain and strain rate and global longitudinal strain (GLS) and strain rate (GLSR) were impaired in children with repaired TOF. Likewise, LV circumferential and radial strain and strain rate were reduced in patients with TOF. In contrast, longitudinal strain and strain rate did not differ between the groups. RV and LV GLSR were correlated with postoperative follow-up period (r1 = -0.44; r2 = -0.48). RV GLS and GLSR were associated with RVEF (r1 = 0.64; r2 = 0.60) and PR (r1 = -0.48; r2 = -0.49). LV circumferential strain rate was related to PR (r = -0.45). STE can identify abnormalities that may represent early impairment of RV and LV systolic function in postoperative TOF patients with a preserved EF. PR is associated with decreased biventricular performance in repaired patients. STE-derived strain and strain rate may be useful indices for detecting the early deterioration of biventricular performance in patients with TOF. © 2014, Wiley Periodicals, Inc.

  2. Left ventricular mechanics in repaired tetralogy of Fallot with and without pulmonary valve replacement: analysis by three-dimensional speckle tracking echocardiography.

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    Shu-Na Li

    Full Text Available BACKGROUND: Altered septal curvature and left ventricular (LV geometry secondary to right ventricular (RV dilation render two-dimensional assessment of LV mechanics difficult in repaired tetralogy of Fallot (TOF patients. The novel three-dimensional (3D speckle tracking echocardiography enables comprehensive evaluation of true 3D LV mechanics. METHODS AND RESULTS: Seventy-six patients aged 23.6 ± 8.3 years, 55 with isolated repair (group I and 21 with subsequent pulmonary valve replacement (group II, and 34 healthy controls were studied. Three-dimensional volume datasets were acquired for assessment of LV global and regional 3D strain, systolic dyssynchrony index (SDI, twist, twist gradient (twist/LV length, and ejection fraction. A global performance index was calculated as (global 3D strain•twist gradient/SDI. The septal curvature and LV eccentricity were determined from the mid-ventricular short-axis. Compared with controls, group I and II patients had significantly reduced LV global 3D strain, LV twist, twist gradient, septal curvature, and global performance index, and greater LV systolic and diastolic eccentricity and SDI (all p<0.05. All but the four apical LV segments in patients had reduced regional 3D strain compared with controls (all p<0.05. Septal curvature correlated with LV global 3D strain (r=0.41, p<0.001, average septal strain (r=0.38, p<0.001, twist (r=0.32, p<0.001, twist gradient (r=0.33, p<0.001, and global performance index (r=0.43, p<0.001. CONCLUSIONS: Adverse 3D LV mechanics as characterized by impaired global and regional 3D systolic strain, mechanical dyssynchrony, and reduced twist is related to reduced septal curvature in repaired TOF patients with and without pulmonary valve replacement.

  3. Association between left ventricular mechanics and diffuse myocardial fibrosis in patients with repaired Tetralogy of Fallot: a cross-sectional study.

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    Haggerty, Christopher M; Suever, Jonathan D; Pulenthiran, Arichanah; Mejia-Spiegeler, Abba; Wehner, Gregory J; Jing, Linyuan; Charnigo, Richard J; Fornwalt, Brandon K; Fogel, Mark A

    2017-12-11

    Patients with repaired tetralogy of Fallot (TOF) have progressive, adverse biventricular remodeling, leading to abnormal contractile mechanics. Defining the mechanisms underlying this dysfunction, such as diffuse myocardial fibrosis, may provide insights into poor long-term outcomes. We hypothesized that left ventricular (LV) diffuse fibrosis is related to impaired LV mechanics. Patients with TOF were evaluated with cardiac magnetic resonance in which modified Look-Locker (MOLLI) T1-mapping and spiral cine Displacement encoding (DENSE) sequences were acquired at three LV short-axis positions. Linear mixed modeling was used to define the association between regional LV mechanics from DENSE based on regional T1-derived diffuse fibrosis measures, such as extracellular volume fraction (ECV). Forty patients (26 ± 11 years) were included. LV ECV was generally within normal range (0.24 ± 0.05). For LV mechanics, peak circumferential strains (-15 ± 3%) and dyssynchrony indices (16 ± 8 ms) were moderately impaired, while peak radial strains (29 ± 8%) were generally normal. After adjusting for patient age, sex, and regional LV differences, ECV was associated with log-adjusted LV dyssynchrony index (β = 0.67) and peak LV radial strain (β = -0.36), but not LV circumferential strain. Moreover, post-contrast T1 was associated with log-adjusted LV diastolic circumferential strain rate (β = 0.37). We observed several moderate associations between measures of fibrosis and impaired mechanics, particularly the LV dyssynchrony index and peak radial strain. Diffuse fibrosis may therefore be a causal factor in some ventricular dysfunction in TOF.

  4. O uso de dexmedetomidina na sedação de crises hipercianóticas em um recém-nascido com tetralogia de Fallot Sedation of hypercyanotic spells in a neonate with tetralogy of Fallot using dexmedetomidine

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    Hideaki Senzaki

    2008-08-01

    Full Text Available OBJETIVO: A sedação é um passo importante para aliviar e prevenir a recorrência de cianose no manejo de pacientes com crises hipercianóticas associadas à tetralogia de Fallot (T4F. Este relato de caso ilustra a eficácia da sedação induzida por dexmedetomidina no manejo de crises hipercianóticas em um recém-nascido com T4F. DESCRIÇÃO: Um paciente recém-nascido a termo de 8 dias de idade com T4F apresentava crises hipercianóticas, indicadas por quedas abruptas no nível de saturação arterial (SpO2, medido por um oxímetro de pulso, de 80% até 50%, quando o paciente ficava agitado ou irritável. Nós começamos a infusão contínua de dexmedetomidina em uma dosagem de 0,2 µg/kg/min sem injeção de ataque em bolus. Cerca de meia hora depois do início da infusão de dexmedetomidina, o paciente atingiu um nível aceitável de sedação, e sua freqüência cardíaca diminuiu aproximadamente 20 batidas por minuto. Não houve nenhuma depressão respiratória aparente ou mudança acentuada em sua pressão arterial. A SpO2 também continuou estável durante a infusão de dexmedetomidina. No dia seguinte à sua hospitalização, o paciente passou com sucesso por uma operação de anastomose de Blalock-Taussig. COMENTÁRIOS: A dexmedetomidina pode ser útil no manejo de crises hipercianóticas em pacientes pediátricos com T4F.OBJECTIVE:Sedation is an important step in the management of patients with hypercyanotic spells associated with tetralogy of Fallot (TOF to ameliorate and prevent recurrence of cyanosis. This case report illustrates the effectiveness of dexmedetomidine-induced sedation in the management of hypercyanotic spells in a neonate with TOF. DESCRIPTION: An 8-day-old term newborn patient with TOF showed hypercyanotic spells, as indicated by an abrupt decrease in arterial saturation (SpO2 level measured by a pulse oximeter from 80% to as low as 50%, when the patient became irritable and agitated. We started continuous

  5. Tetralogía de Fallot asociada a síndrome de cimitarra

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    Jaiber Gutiérrez, MD

    2012-11-01

    Full Text Available Se expone el caso de un niño de catorce meses de edad, con tetralogía de Fallot asociada a síndrome de cimitarra, cuyo diagnóstico se realizó mediante ecocardiografía, cateterismo cardiaco y angio-TAC. Se hace referencia a las consideraciones clínicas y quirúrgicas de este caso que hasta la fecha es el quinto reportado en la literatura.

  6. Perioperative management of a patient with Dandy Walker malformation with tetralogy of Fallot undergoing total correction and fresh homologous pericardial pulmonary valve conduit implantation: Report of a rare case

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    Vishnu Datt

    2015-01-01

    Full Text Available Perioperative management of a patient with Dandy-Walker malformation (DWM with tetralogy of Fallot (TOF, patent ductus arteriosus, and pulmonary artery stenosis is a great challenge to the anesthesiologist. Anesthetic management in such patients can trigger tet spells that might rapidly increase intracranial pressure (ICP, conning and even death. The increase in ICP can precipitate tet spells and further brain hypoxia. To avoid an increase in ICP during TOF corrective surgery ventriculo-peritoneal (VP shunt should be performed before cardiac surgery. We present the first case report of a 11-month-old male baby afflicted with DWM and TOF who underwent successful TOF total corrective surgery and fresh autologous pericardial pulmonary valve conduit implantation under cardiopulmonary bypass after 1 week of VP shunt insertion.

  7. Perioperative management of a patient with Dandy Walker malformation with tetralogy of Fallot undergoing total correction and fresh homologous pericardial pulmonary valve conduit implantation: Report of a rare case.

    Science.gov (United States)

    Datt, Vishnu; Tempe, D K; Lalwani, Parin; Aggarwal, Saket; Kumar, Pradeep; Diwakar, Anitha; Tomar, A S

    2015-01-01

    Perioperative management of a patient with Dandy-Walker malformation (DWM) with tetralogy of Fallot (TOF), patent ductus arteriosus, and pulmonary artery stenosis is a great challenge to the anesthesiologist. Anesthetic management in such patients can trigger tet spells that might rapidly increase intracranial pressure (ICP), conning and even death. The increase in ICP can precipitate tet spells and further brain hypoxia. To avoid an increase in ICP during TOF corrective surgery ventriculo-peritoneal (VP) shunt should be performed before cardiac surgery. We present the first case report of a 11-month-old male baby afflicted with DWM and TOF who underwent successful TOF total corrective surgery and fresh autologous pericardial pulmonary valve conduit implantation under cardiopulmonary bypass after 1 week of VP shunt insertion.

  8. Gender differences and role of pregnancy in the history of post-surgical women affected by tetralogy of Fallot.

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    Luciano Daliento

    Full Text Available BACKGROUND: The aim of this study was to describe gender differences in patients operated on for TOF and to define the impact of pregnancy in late post-surgical follow-up in women. METHODS: In this research, we studied 145 patients after correction of TOF: 66 male, 79 women, 41 of which reported history of 68 pregnancies, means age 37±10 years, age at operation 7±8 years, mean duration of post-surgical follow-up 30±7 years. Selected variables were compared according to sex and according to history of pregnancy with statistical tests. RESULTS: Men had more severe hemodynamic impairment and a higher number of cardiac reoperations than females. 41% of patients had at least one complication during pregnancy; there were 16 (67% abortions and 39 (74% Caesarian delivers; the recurrence of congenital heart defect was 10%. After pregnancy, there was a shift from first to second functional class: unique pregnancy determined no differences in term of morpho-functional ventricular features compared to nulliparous, but they complained fatigue and palpitation and echocardiographyc dysfunction. Left ventricular dysfunction and QRS duration at ECG were independent predictors of ventricular arrhythmias in all patients. CONCLUSIONS: There were no gender-specific differences in patients operated on for TOF using ventriculotomy. Pregnancy is an event in these patients at risk for the newborn, in terms of miscarriage, prematurity, and recurrence of birth defects, and for the mother in terms of ventricular dysfunction and electrical instability. At least a single pregnancy does not appear to significantly modify the natural history of post-surgical patients operated on for TOF.

  9. 31. Abordaje transaórtico de la tetralogía de fallot en el adulto

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    M.T. González López

    2012-04-01

    Conclusiones: El cierre de la CIV en la tetralogía de Fallot del adulto mediante abordaje transaórtico resulta sencillo, por las dimensiones de la raíz y el acabalgamiento sobre la misma. En casos de situs inversus, esta técnica facilita sobremanera la corrección final.

  10. Análise de fatores pré e per-operatórios determinantes do resultado cirúrgico da tetralogia de Fallot Analysis of the factors pre and post-operatory, as determinants of the surgical results of the tetralogy of Fallot

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    Bayard Gontijo Filho

    1987-08-01

    Full Text Available São analisados os resultados pós-operatórios imediatos de 98 pacientes submetidos a tratamento cirúrgico da tetralogía de Fallot (TF num total de 109 procedimentos (29 cirurgias paliativas e 80 correções definitivas. No grupo de cirurgias paliativas, ocorreram 2 óbitos no início de nossa experiência, não havendo mortalidade nos últimos 20 pacientes operados. A técnica de Blalock-Taussig clássica foi a mais utilizada (19 casos. No grupo de correção total, houve 9 óbitos (11,2%, sendo 7 deles no período de 1979 a 1983, ocorrendo apenas 2 óbitos nos últimos 42 casos operados. A presença de anastomose sistêmico-pulmonar prévia (8 casos não interferiu na mortalidade pós-operatória. A análise retrospectiva desta experiência mostrou que os fatores que influenciaram negativamente o resultado cirúrgico foram: o baixo peso, a baixa idade, o alargamento de via de saída e alguns tipos de malformações associadas. A nossa conduta atual, baseada em uma sistematização colocada em prática a partir de 1984, prevê correção cirúrgica em 2 estágios, com tratamento paliativo antes dos 2 anos de idade. A mortalidade combinada observada nos últimos 2 anos foi de 4,7%.We report the immediate postoperative results of 98 patients who underwent surgical treatment for tetralogy of Fallot. A paliative operation was employed in 29 children and total correction was performed in 80 patients (109 operations. There were 2 postoperative deaths in the group of paliative treatment which occurred in the beggining of our experience and no deaths were found in the last 20 operations. In the group of patients who underwent total correction there were 9 deaths (11,2%, but only 2 of these deaths occurred in the last 42 patients operated. The presence of a previous shunt (8 patients did not interfere with the postoperative result. The factors that determined a higher postoperative mortality were: age under 2 years, weight under 10 kg, presence of

  11. Emprego e avaliação em médio prazo da cúspide de homoenxerto decelularizado na correção da tetralogia de Fallot The use and midium-term evaluation of decellularized allograft cusp in the surgical treatment of the tetralogy of Fallot

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    Leonardo Andrade Mulinari

    2008-06-01

    Full Text Available OBJETIVO: Descrever a técnica de preparo e a evolução ecocardiográfica das cúspides de homoenxerto decelularizado utilizadas em pacientes com tetralogia de Fallot. MÉTODOS: No período de março de 2005 a agosto de 2007, 15 pacientes foram submetidos ao implante deste tipo de enxerto e foram acompanhados clinicamente e com ecocardiograma para avaliar o resultado morfofuncional dos enxertos. RESULTADOS: O acompanhamento médio foi de 12,7 meses (1-25 meses. A análise ecocardiográfica em médio prazo revelou: insuficiência pulmonar leve em nove (60% pacientes, moderada em três (20% e importante em três (20%; a função sistólica do ventrículo direito esteve preservada em 13 (86,7% pacientes e com disfunção leve em dois (13,3%; 11 (73,4% pacientes não apresentaram gradientes na via de saída do ventrículo direito (VD, e em quatro (26,6% pacientes evidenciou-se a presença de estenose leve; a mobilidade da cúspide foi normal em todos os pacientes; não houve espessamento maior de 1,5mm nas cúspides analisadas; não se detectou nenhuma calcificação nas cúspides. Catorze (93,3% pacientes apresentaram Z score entre -1 e 0,7 e um (6,7% paciente apresentou anel pulmonar com Z score de + 2,5. CONCLUSÃO: O retalho de homoenxerto decelularizado parece ser uma boa opção para a ampliação da via de saída do VD nos pacientes submetidos à correção total da tetralogia de Fallot em médio prazo.OBJECTIVE: To describe the technique of implantation and to show the echocardiographic follow-up of the decellularized cusps allografts used in patients with tetralogy of Fallot. METHODS: Fifteen patients underwent this implantation between March 2005 and August 2007 and they were clinically followed-up. An echocardiogram was performed to evaluate the morphofunctional result of the allografts. RESULTS: The mean follow-up was 12.7 months (1-25 months. The echocardiography results showed that pulmonary insufficiency was mild in nine (60

  12. Development of a novel hybrid strategy for transcatheter pulmonary valve placement in patients following transannular patch repair of tetralogy of fallot.

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    Phillips, Alistair B M; Nevin, Phillip; Shah, Avni; Olshove, Vincent; Garg, Ruchira; Zahn, Evan M

    2016-02-15

    Transcatheter pulmonary valve replacement (tPVR) is an accepted therapy for treatment of dysfunctional right ventricular outflow tract (RVOT) conduits. At present, the majority of Fallot patients who undergo transannular patch (TAP) repair are not candidates for tPVR due to the large irregular nature of their RVOT. Herein, we describe a novel approach to assessing the RVOT in this group, which may then be used to design, test, and carry out hybrid RVOT modification and transcatheter valve implantation in this population. A retrospective analysis of TAP patients who underwent 3D modeling of the RVOT which was then used to develop individualized hybrid procedures designed to modify the RVOT, thereby rendering patients suitable for transcatheter valve implantation. Eight consecutive patients underwent 3D RVOT modeling followed by hybrid implantation of a transcatheter valve via a perventricular approach. A landing zone stent was placed in all and four required additional intravascular geometric remodeling of the RVOT prior to valve implant. Transcatheter valves were successfully implanted in all. There were no instances of valve malposition, embolization, or death. There was one minor procedural complication. No patient had more than trivial pulmonary regurgitation at follow-up. Using a hybrid approach to remodel the RVOT in TAP patients supported by preprocedural 3D-model planning allows for successful tPVR implantation in this population. A larger cohort and longer follow-up will be needed to determine the ultimate utility of this approach. © 2015 Wiley Periodicals, Inc.

  13. Correção intracardíaca da tetralogia de Fallot no primeiro ano de vida: resultados a curto e médio prazos Intracardiac correction of tetralogy of Fallot in the first year of life: short-term and midium-term results

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    Fernando Ribeiro de Moraes Neto

    2008-06-01

    Full Text Available OBJETIVO: Avaliar os resultados a curto e médio prazos da correção intracardíaca da tetralogia de Fallot no primeiro ano de vida. MÉTODOS: De janeiro de 1996 a outubro de 2004, 67 crianças com idade variando de 1 a 11 meses (média: 7,2 meses e pesando entre 4 a 10 quilos (média: 7,1 kg foram eletivamente submetidas a correção intracardíaca da tetralogia de Fallot. A cirurgia foi realizada com circulação extracorpórea convencional e hipotermia moderada. Ventriculotomia direita foi realizada em 60 (89,5% casos e em sete (10,5% utilizou-se a abordagem do defeito pela via atriopulmonar. RESULTADOS: O tempo de circulação extracorpórea variou de 35 a 147 minutos (média:78,8 ± 21 minutos, e o tempo de pinçamento da aorta variou de 25 a 86 minutos (média: 51,8 ± 15,6 minutos. Ampliação transanular da via de saída do ventrículo direito foi necessária em 50 (64,1% casos. O gradiente entre o ventrículo direito e a artéria pulmonar, após a correção, variou de 0 a 54 mmHg (média: 15,5 ± 10,8 mmHg. Ocorreram dois (2,98% óbitos no pós-operatório imediato. O seguimento tardio variou de 7 a 115 meses (média: 44,0 ± 35 meses. Houve uma morte tardia não-cardíaca. Todos os outros pacientes estão assintomáticos. A curva de sobrevida actuarial, incluindo a mortalidade operatória, revelou que a probabilidade de sobrevida, 12 anos após a operação, é de 97%. Dez pacientes foram avaliados por angiorresonânia magnética nuclear. CONCLUSÕES: A correção intracardíaca da tetralogia de Fallot no primeiro ano de vida pode ser feita com baixas morbidade e mortalidade e bons resultados tardios.OBJECTIVE: To evaluate short-term and medium-term results of intracardiac correction of Tetralogy of Fallot in the first year of life. METHODS: From January 1996 to October 2004, 67 consecutive infants ranging in age from 1 to 11 months (mean: 7.2 months and weighing from 4 to 10 kilograms (mean: 7.1 kilograms underwent elective total

  14. Longitudinal right ventricular function is a better predictor of right ventricular contribution to exercise performance than global or outflow tract ejection fraction in tetralogy of Fallot: a combined echocardiography and magnetic resonance study.

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    Alghamdi, Mohammed H; Mertens, Luc; Lee, Whal; Yoo, Shi-Joon; Grosse-Wortmann, Lars

    2013-03-01

    The contribution of the systolic function of the right ventricular (RV) outflow tract (RVOT) and of longitudinal shortening of the body of the right ventricle to global RV systolic function and exercise capacity in patients after tetralogy of Fallot (TOF) repair is unclear. Our aim was to characterize the functional role of the RVOT and to identify the most suitable method of assessing RV systolic function in clinical practice. The cardiac magnetic resonance (CMR) studies, echocardiograms, and medical records of 50 consecutive patients with repaired TOF who underwent CMR were reviewed. The volumes of the RVOT and of the remainder of the RV were measured separately. Echocardiographic RV strain measurements based on ultrasound speckle tracking were collected. After excluding the akinetic RVOT, RVEF was statistically higher (47.1 vs. 45.0%, Pcorrelations of fractional area change and global longitudinal strain, both by echocardiography, with global RVEF were moderate (r= 0.59, P= 0.0001 and r= 0.56, P= 0.0004, respectively). The correlation between RVEF and predicted maximal oxygen consumption (VO(2)max-predicted) was weak, regardless of whether the akinetic RVOT was included or not (r= 0.33, P= 0.049 and r= 0.36, P= 0.03, respectively). Of all imaging parameters, echocardiographic RV longitudinal strain correlated best with VO(2)max-predicted (r= 0.66, P= 0.0001). In patients following TOF repair, echocardiographic and CMR descriptors of global RV systolic function are, at best, weak predictors of exercise tolerance. Longitudinal function of the RV, measured remotely from the RVOT, may be a more important determinant of exercise performance than global RVEF in patients with aneurismal RVOTs.

  15. Cardio-Ankle Vascular Index (CAVI) and Plasma Transforming Growth Factor-β1 (TGF-β1) Level Correlate with Aortopathy in Adults with Repaired Tetralogy of Fallot.

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    Shiina, Yumi; Niwa, Koichiro

    2017-02-01

    It is challenging to evaluate aortopathy in congenital heart disease using conventional investigations such as brachial-ankle pulse wave velocity (baPWV). Therefore, we evaluated the cardio-ankle vascular index (CAVI), a dimension of the ascending aorta and plasma transforming growth factor-β1 (TGF-β1) level, in order to find novel noninvasive parameters of aortopathy in adults with repaired tetralogy of Fallot (TOF). Prospectively, we enrolled 42 consecutive adults with TOF (28 patients with repaired TOF were not on ARB, 8 patients with repaired TOF on ARB, 6 patients with no repair or only palliative repair) and 20 age-matched healthy controls. We measured CAVI, baPWV, plasma TGF-β1 level and a diameter of the ascending aorta using echocardiography. The mean age of repaired TOF without ARB were 31.9 ± 9.1 years. An aortic diameter of the ascending aorta, CAVI, and plasma TGF-β1 level were significantly higher in repaired TOF without ARB than those in controls, whereas baPWV did not differ. On a univariate analysis, CAVI, plasma TGF-β1 level and Rastelli procedure were important factors for an aortic diameter of the ascending aorta (r = 0.56, P < 0.01, r = 0.59, P < 0.01, r = 0.39, P < 0.05, respectively) in this population. There was no significant correlation with age, baPWV, NT-pro brain natriuretic peptide (BNP), repair age, shunt duration, aortic regurgitation or right aortic arch. On the other hand, patients with unrepaired or palliative TOF, who had obvious volume overload, showed no significant correlation with CAVI, baPWV or plasma TGF-β1 level. CAVI and plasma TGF-β1 level, not baPWV, correlate to aortopathy in adults with repaired TOF.

  16. Feto portador de síndrome de turner e tetralogia de fallot associadas à elevação de alfafetoproteína materna Fetal turner syndrome and tetralogy of fallot associated with elevated maternal serum alpha-fetoprotein levels

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    Eduardo Vieira Neto

    1998-06-01

    developed, requiring corticosteroid therapy and premature cesarean section at the 34th week of gestation. The female newborn was transferred to a neonatal ICU and tetralogy of Fallot and Turner syndrome were diagnosed. This case prompted the authors to review the literature on maternal serum biochemical markers in Turner syndrome and congenital heart defects and to propose a protocol for unexplained increased MSAFP.

  17. Anastomosis cava-pulmonar en el tratamiento quirúrgico de la tetralogía de fallot

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    Patiño, José Félix; Demner, Sigifredo; Alvarado, Enrique; Colmenares, Jorge

    2011-01-01

    Se informa sobre la aplicación clínica exitosa de la técnica de anastomosis cava-pulmonar, originalmente descrito por Glenn y Patiño, en un caso de Tetralogía de Fallot. Representa este caso el primer paciente tratado en esta forma en la literatura médica occidental. La anastomosis cava-pulmonar es un procedimiento técnicamente muy sencillo que permite mejorar notablemente la oxigenación en pacientes que presentan ciertas anomalías en el corazón derecho o en la arteria pulmonar. La anastomosi...

  18. Síndrome de bajo gasto cardíaco en la tetralogía de Fallot

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    Lincoln de la Parte Pérez

    2002-06-01

    Full Text Available Se realiza un estudio retrospectivo de 200 niños operados de tetralogía de Fallot en el Cardiocentro del Hospital Pediátrico Universitario "William Soler" durante el período comprendido entre los años 1990 y 1993. Se observó una relación directamente proporcional entre el tiempo de pinzamiento aórtico (paro anóxico, el tiempo de circulación extracorpórea (CEC y el desarrollo del síndrome de bajo gasto cardíaco. La incidencia de bajo gasto cardíaco en los niños con tiempo de pinzamiento aórtico menor a los 30 min fue nula, en los pacientes con tiempo menor a los 60 min la incidencia fue del 23,2 % (40 pacientes. En los 24 pacientes que sufrieron procedimientos quirúrgicos prolongados y tiempo de pinzamiento aórtico mayor de 1 hora la incidencia fue del 95,8 %. En los pacientes con tiempo de CEC menor de 90 min la incidencia de bajo gasto cardíaco que de sólo el 9,75 %, en los niños con tiempo de CEC entre 91 y 105 min fue de 15,53 %, en los que necesitaron entre 106 y 120 min de CEC fue del 62,5 % y en los procedimientos quirúrgicos prolongados fue del 95,8 %. La mayoría de los pacientes respondió bien al tratamiento, aunque en un pequeño número de ellos se mantuvo la disfunción ventricular a pesar del tratamiento. Siete niños fallecieron en el posoperatorio para una mortalidad del 3,5 %.A retrospective study of 200 children with Tetralogy of Fallot, who were operated on the Cardiology Center of "William Soler" University Pediatric Hospital from 1990 to 1993, was performed. There was a direct proportional relation between time of holding aorta with forceps (anoxic arrest, time of extracorporeal circulation and the development of low cardiac output syndrome. The incidence of low cardiac output in children who underwent holding of aorta with forceps for less than 30 minutes was zero, but the same procedure applied in patients for less than 60 minutes, the incidence was 23,2%(40 patients. The 24 patients that underwent

  19. Tetralogía de Fallot asociada a duplicación distal del brazo largo del cromosoma 11

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    Elodia Torres

    2015-04-01

    Full Text Available La tetralogía de Fallot es una cardiopatía frecuente y puede representar hasta el 11 al 13% de todas las cardiopatías congénitas clínicas, se presenta en 1 de cada 8.500 nacidos vivos. En la mayoría de los casos, se asocia a una microdeleción del cromosoma 22 y con menor frecuencia al síndrome de Down. El síndrome de la dup 11q es una anomalía cromosómica causada por la duplicación de la porción distal del extremo del brazo largo del cromosoma 11, ocasionando una trisomía parcial del mismo, producto de un desbalance cromosómico, con disfunción de los genes involucrados en este material genético adicional que ocasiona anormalidades tanto físicas como mentales en un recién nacido. Se presenta el caso de un niño de 3 meses de vida que es derivado a la consulta genética por fenotipo sindromático, Tetralogía de Fallot y retraso del crecimiento. El estudio citogenético se realizó en sangre periférica, los cromosomas fueron procesados con técnicas de tinción convencional, bandas de alta resolución y centroméricas, observándose una duplicación 11q. Cariotipo: 46, XY, dup11 (q23àqter. Se enfatiza la importancia del estudio cromosómico en recién nacidos con malformaciones congénitas mayores para el diagnóstico de certeza y posterior asesoramiento genético a los progenitores.

  20. Accuracy of different imaging modalities prior to biventricular repair ...

    African Journals Online (AJOL)

    invasive tests in patients with Tetralogy of Fallot prior to biventricular repair, and the need of invasive angiocardiography in specific subgroups. A retrospective analysis was performed for paediatric patients with Tetralogy of Fallot who underwent ...

  1. Propranolol plasma monitoring in children submitted to surgery of tetralogy of Fallot by a micromethod using high performance liquid chromatography Monitoramento do propranolol plasmático em crianças operadas da tetralogia de Fallot através de micrométodo utilizando a cromatografia líquida de alta eficiência

    Directory of Open Access Journals (Sweden)

    Cristina Sanches

    2007-01-01

    Full Text Available OBJECTIVE: To evaluate the analytical micromethod using liquid chromatography for the quantification of propranolol in children submitted to surgery of tetralogy of Fallot (TLF. Methods: Only 0.2 mL of plasma is required for the assay. Peaks eluted at 8.4 (Propranolol and 17.5 min (verapamil, internal standard from a C18 column, with a mobile phase 0.1 M acetate buffer, pH 5.0, and acetonitrile (60:40, v/v at flow rate 0.7 mL/min, detected at 290 nm (excitation and 358 nm (emission. Surgery was started 776 min of drug administration (8.7mg, mean; seven blood samples were collected from six patients (4M/2F; 2.1yrs;11.5kg; 0.80m; 18.9kg/m². RESULTS: Confidence limits of the method showed high selectivity and recovery, sensitivity of 0.02ng/mL, good linearity (0.05-1000ng/mL, precision of 8.6% and accuracy of 3.1%. The mean duration of surgery was 283.2min, with the patients remaining under cardiopulmonary bypass (CPB for 114min. A declining curve of propranolol plasma concentration was obtained after the last dose in the night that preceded the day of surgery. Plasma concentration also was normalized with hematocrit due to the hemodilution caused by the CPB procedure. On the other hand a decrease on drug plasma concentration was obtained between periods, the beginning of surgery to the postoperative day 2 (7.09 ng/mL and 0.05 ng/mL, pOBJETIVO: Avaliar o micrométodo analítico empregando a cromatografia líquida para quantificação de propranolol em crianças operadas de tetralogia de Fallot (TLF. MÉTODO: Requereu-se apenas volumes de 0,2mL de plasma para a realização do ensaio. Os picos foram eluídos em 8.4 (Propranolol e 17.5 min (verapamil, padrão interno de uma coluna C18, com fase móvel (tampão acetato 0,1 M pH 5,0 e acetonitrila, 60:40, v/v em fluxo de 0,7 mL/min, sendo detectados em 290 nm (excitação e em 358 nm (emissão. A cirurgia iniciou-se 776 min depois da dose administrada (8,7mg, média e sete amostras de sangue foram

  2. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndrome

    NARCIS (Netherlands)

    Silversides, Candice K.; Kiess, Marla; Beauchesne, Luc; Bradley, Timothy; Connelly, Michael; Niwa, Koichiro; Mulder, Barbara; Webb, Gary; Colman, Jack; Therrien, Judith

    2010-01-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. Since the 2001 Canadian Cardiovascular Society

  3. Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2016-04-01

    Conclusion: Fetuses with 15q14 microdeletion may present TOF on the second-trimester ultrasound. aCGH and metaphase FISH are useful for rapid prenatal diagnosis of 15q14 microdeletion associated with TOF. A prenatal diagnosis of TOF should include a differential diagnosis of 15q14 microdeletion in addition to 22q11.2 deletion syndrome and other microdeletion syndromes.

  4. Per-operative stent placement in the right pulmonary artery; a hybrid technique for the management of pulmonary artery branch stenosis at the time of pulmonary valve replacement in adult Fallot patients

    NARCIS (Netherlands)

    Windhausen, F.; Boekholdt, S. M.; Bouma, B. J.; Groenink, M.; Backx, A. P. C. M.; de Winter, R. J.; Mulder, B. J. M.; Hazekamp, M. G.; Koolbergen, D. R.

    2011-01-01

    After having undergone surgical correction at an early age, many patients with tetralogy of Fallot develop long-term complications including progressive pulmonary regurgitation and peripheral pulmonary stenosis. A high percentage of these patients need to undergo a second operation in their

  5. Sequential Right and Left Ventricular Assessment in Posttetralogy of Fallot Patients with Significant Pulmonary Regurgitation.

    Science.gov (United States)

    Wijesekera, Vishva A; Raju, Rekha; Precious, Bruce; Berger, Adam J; Kiess, Marla C; Leipsic, Jonathon A; Grewal, Jasmine

    2016-12-01

    The natural history of right ventricular (RV) and left ventricular (LV) size and function among adults with tetralogy of Fallot (TOF) repair and hemodynamically significant pulmonary regurgitation (PR) is not known. The main aim of this study was to determine changes in RV and LV size and function over time in an adult population with TOF repair and hemodynamically significant pulmonary regurgitation. Forty patients with repaired TOF and hemodynamically significant PR were included. These patients were identified on the basis of having more than one CMR between January 2008 and 2015. Patients with a prosthetic pulmonary valve or any cardiac intervention between CMR studies were excluded. Rate of progression (ROP) of RV dilation was determined for both indexed right ventricular end-systolic volume (RVESVi) and indexed right ventricular end-diastolic volume (RVEDVi), and calculated as the difference between the last and first volumes divided by the number of years between CMR#1 and CMR#2. Subjects were also divided into two groups based on the distribution of the ROP of RV dilation: Group I-rapid ROP (>50th percentile) and Group II-slower ROP (≤50th percentile). The interval between CMR#1 and CMR#2 was 3.9 ± 1.7 years (range 1-8 years). We did find a significant change in RVEDVi and RVESVi over this time period, although the magnitude of change was small. Nine patients (23%) had a reduction in right ventricular ejection fraction (RVEF) by greater than 5%, 13 patients (33%) had an increase in RVEDVi by greater than 10 mL/m(2) and seven patients (18%) had an increase in RVESVi by greater than 10 mL/m(2) . Median ROP for RVEDVi was 1.8 (range -10.4 to 21.8) mL/(m(2) year); RVESVi 1.1 (range -5.8 to 24.5) mL/(m(2) year) and RVEF -0.5 (range -8 to 4)%/year. Patients with a rapid ROP had significantly larger RV volumes at the time of CMR#1 and lower RVEF as compared to the slow ROP group. There was no overall significant change in LVEDVi, LVESVi, or LVEF over this

  6. Pentalogy of Fallot in a captive Siberian tiger (Panthera tigris altaica).

    Science.gov (United States)

    Scaglione, Frine E; Tursi, Massimiliano; Chiappino, Laura; Schröder, Cathrin; Triberti, Orfeo; Bollo, Enrico

    2012-12-01

    A 2-yr-old male Siberian Tiger (Panthera tigris altaica) died during a fight with a conspecific. At necropsy, significant abnormalities included severe cardiomegaly with cardiac malformations consisting of a large atrial septal defect, a membranous ventricular septal defect, overriding aorta, and stenosis of the pulmonary valve with secondary concentric hypertrophy of the right ventricle. Endocardiosis of the mitral valve was also noted. To the authors' knowledge, this is the first report of a pentalogy of Fallot in a large felid that resulted in sudden death.

  7. Pattern and clinical profile of children with complex cardiac anomaly ...

    African Journals Online (AJOL)

    Pattern and clinical profile of children with complex cardiac anomaly at University of Nigeria Teaching Hospital, Ituku‑Ozalla, Enugu State, Nigeria. ... ventricle) with left sided aorta, hypoplastic tricuspid valve with a PDA (patent ductus artriosus), TOF (tetralogy of fallot), prolapse of aortic valve, and pulmonary regurgitation.

  8. Excerpts from Electrophysiology Sessions at the European Society of Cardiology Congress 2002 - Berlin

    Directory of Open Access Journals (Sweden)

    Ashish Nabar

    2003-01-01

    Full Text Available This article is prepared on the basis of presentations given at the Annual Scientific Sessions of the European Society of Cardiology 2002 in Berlin, Germany. Topics discussed are: Current clinical problems encountered with implantable cardioverter defibrillators (ICDs, Biventricular pacing - a resynchronization therapy, Post-operative Tetralogy of Fallot - is the electrophysiologist listening?

  9. The role of cardiac CT angiography in the pre- and postoperative ...

    African Journals Online (AJOL)

    2015-12-17

    Dec 17, 2015 ... The role of cardiac CT angiography in the pre- and postoperative evaluation of tetralogy of Fallot. Read online: Scan this QR code with your smart phone or mobile device to read online. Introduction. Maude Abbott, variously known as the 'Queen of Canadian Cardiology' and 'The Beneficent. Tornado', first ...

  10. Parental mental health moderates the efficacy of exercise training on health-related quality of life in adolescents with congenital heart disease

    NARCIS (Netherlands)

    Dulfer, K.; Duppen, N.; Dijk, A.P.J. van; Kuipers, I.M.; Domburg, R.T. van; Verhulst, F.C.; Ende, J. van den; Helbing, W.A.; Utens, E.M.

    2015-01-01

    To evaluate the moderating influence of parental variables on changes in health-related quality of life (HRQoL) in adolescents with Tetralogy of Fallot (ToF) or a Fontan circulation after participation in standardized exercise training. A multicenter randomized controlled trail in which 56 patients,

  11. The role of cardiac CT angiography in the pre- and postoperative ...

    African Journals Online (AJOL)

    Tetralogy of Fallot (TOF) is the first described and most common cyanotic congenital heart anomaly that generated the first successful surgical palliation procedure and definitive intracardiac repair. Classical TOF comprises the four typical features of right ventricular outflow tract obstruction (RVOTO), right ventricular ...

  12. Practical application of natriuretic peptides in paediatric cardiology

    DEFF Research Database (Denmark)

    Smith, Julie; Goetze, Jens P; Andersen, Claus B

    2010-01-01

    conclude that in premature neonates with persistent arterial ducts; in teenagers with tetralogy of Fallot and pulmonary regurgitation; and in children with heart transplants and potential allograft rejection cardiac peptides can provide the clinician with additional information, but in children with atrial...

  13. Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

    DEFF Research Database (Denmark)

    Luukkonen, Tiia Maria; Mehrjouy, Mana M; Pöyhönen, Minna

    2018-01-01

    ." In the first family, carriers (n = 6) manifest with learning problems in childhood, and later with unexplained neurological symptoms (chronic headache, balance problems, tremor, fatigue) and cerebral infarctions in their 50s. In the second family, two carriers suffer from tetralogy of Fallot, one from...

  14. The Anti-Racist Overtones of a Feminist Historical Novel Tetralogy from the 1940s

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    Judit Kádár

    2011-01-01

    Full Text Available Although the most popular Hungarian historical novels were written in the nineteenth century by the famous romantic writer, Mór Jókai, a revival of the genre occurred in the period following the First World War. Most of the authors, each influenced by a different worldview, were scouring the symbolic space of history for an explanation as to why Hungary had lost the war. “Our knowledge of the past, our cultural heritage is also a symbolic space that is the site of struggle for the self-representation of social groups, a space that is shaped according to the degrees to which certain groups have access to it” – states Györgyi Horváth in her work on the constitutive role of the historical narrative; this, of course, is also true of authors in the Post World War I Era. They represented their own social groups, which happened to be white, middle class, Hungarian men. Although the period between the two World Wars saw the rise of female authorship, and dozens of historical novels were published by women each year, almost all women writers conceived their novels from a dominant masculine perspective. In this paper, I examine one of the few exceptions, a tetralogy of historical novels by Lola Kosáryné Réz, written from the perspective of oppressed women, and I discuss her stance on the relationship between different ethnicities in discourses of war and responsibility.

  15. Tetralogy Surgery - Back To Baltimore 70 Years Later: Melbourne Heritage and Group Tribute to Juan Comas.

    Science.gov (United States)

    Sarris, George E

    2017-01-01

    Surgery for Tetralogy of Fallot progressed rapidly from the palliative arterio-pulmonary Blalock-Taussig shunt, introduced in Baltimore 70 years ago, to the "classic" complete transventricular repair technique, with which excellent early results were achieved soon thereafter. However, as duration of follow-up increased, so did the awareness of development of troubling late complications, including severe pulmonary insufficiency, right ventricular dilatation and dysfunction, and tricuspid valve insufficiency, all contributing to increasing incidence of late reoperations, as well as to arrhythmias and sudden death. This realization fueled the initial introduction of the transatrial-transpulmonary repair technique by Kawashima, as well as the subsequent firm establishment of this technique within the framework of an integrated surgical approach by Roger Mee in Melbourne. In turn, Mee's numerous trainees and associates led the dissemination of this approach and provided the impetus for the current wide adoption of a variety of right ventricular and pulmonary valve preservation techniques. In addition to the outstanding surgical results reported by individual centers adopting this surgical strategy, encouraging multi-institutional data are emerging regarding the benefits of these approaches for more favorable early and, most importantly, late outcome. One student and strong proponent of the Melbourne approach was our late colleague and friend Juan Comas, to whose memory this article can serve as tribute. Copyright © 2017. Published by Elsevier Inc.

  16. Echocardiographic evaluation of coronary arteries in congenital heart disease.

    Science.gov (United States)

    Freire, Grace; Miller, Michelle S

    2015-12-01

    Among populations of patients with the congenital heart disease, there is considerable diversity in the anatomy of the coronary arteries. Understanding these anatomical differences is vitally important in directing interventions and surgical repair. In this report, the authors describe the echocardiographic evaluation of the variants of coronary artery anatomy in the following lesions: transposition of the great arteries, congenitally corrected transposition of the great arteries, double-inlet left ventricle, common arterial trunk, tetralogy of Fallot, and double-outlet right ventricle.

  17. Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.

    OpenAIRE

    Raymond, F L; Simpson, J M; Mackie, C M; Sharland, G K

    1997-01-01

    We report a series of five patients with congenital heart defects in whom a prenatal diagnosis of 22q11 deletion has been made. The accurate cardiac and cytogenetic diagnoses were made between 20 and 23 weeks' gestation in all cases and the cardiac findings were all confirmed postnatally. The cardiac abnormalities included tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with VSD, common arterial trunk, and left atrial isomerism with double outlet right ventricle. The proble...

  18. Long-term outcome of speech and language in children after corrective surgery for cyanotic or acyanotic cardiac defects in infancy.

    OpenAIRE

    Hovels-Gurich, Hedwig H; Bauer, Sebastian B; Schnitker, Ralph; Willmes-von Hinckeldey, Klaus; Messmer, Bruno J.; Seghaye, Marie-Christine; Huber, Walter

    2008-01-01

    The purpose of this prospective study was to assess whether outcome of speech and language in children 5-10 years after corrective surgery for tetralogy of Fallot (TOF) or ventricular septal defect (VSD) in infancy was influenced by the preoperative condition of hypoxemia or cardiac insufficiency and whether it was associated with perioperative risk factors and neurodevelopmental outcome. A total of 35 unselected children, 19 with TOF and hypoxemia and 16 with VSD and cardiac insufficiency, o...

  19. Vanishing calcification of the brain in an infant after open heart surgery

    Energy Technology Data Exchange (ETDEWEB)

    Begeer, J.H.; Rutgers, A.W.F. (Groningen Univ. Hospital (Netherlands). Dept. of Child Neurology); Vencken, L.M. (Groningen Univ. Hospital (Netherlands). Dept. of Neuroradiology); Hoorntje, T.M. (Groningen Univ. Hospital (Netherlands). Dept. of Pediatrics); Meuzelaar, J.J. (Groningen Univ. Hospital (Netherlands). Dept. of Thoracic Surgery); Woltersom-Zwierzynska, B.D. (Groningen Univ. Hospital (Netherlands). Dept. of Anaesthesia)

    1991-08-01

    Neurological complications after cardiac operations with the aid of cardiopulmonary bypass and hypothermia are well known. A 6 months-old child is described with severe neurological complications after cardiac surgery for Fallots tetralogy. On the CT scan cortical calcification was seen to vanish. Such calcification has not been reported in similar patients. Possible causes are discussed but the precise pathophysiology of this phenomenon remains unclear. (orig.).

  20. Correção total da tétrade de Fallot no primeiro ano de vida

    Directory of Open Access Journals (Sweden)

    Fernando MORAES NETO

    1998-01-01

    Full Text Available De janeiro de 1996 a novembro de 1997, 15 crianças com idade variando de 3 a 11 meses (média: 6 meses e pesando entre 5 kg a 9 kg (média: 7,2 kg foram eletivamente submetidas à correção total de tétrade de Fallot. Treze tinham sintomas de hipoxemia, e 2 eram acianóticos. O diagnóstico definitivo foi obtido em todos os casos por ecocardiografia bidimensional. Utilizou-se circulação extracorpórea convencional e hipotermia moderada. Obteve-se proteção miocárdica com infusão na aorta de solução cardioplégica cristalóide gelada e hipotermia tópica do coração. O tempo de CEC variou de 50 min a 125 min (média: 56 min e o de pinçamento aórtico de 32 min a 86 min (média: 56 min. A correção foi realizada por via transventricular em 14 e por via transatrial em 1. Em 11 casos, utilizou-se enxerto de pericárdio bovino para ampliar a via de saída do ventrículo direito, sendo que em 4 a ampliação foi transanular. Após a correção, o gradiente entre o ventrículo direito e a artéria pulmonar variou de 2 a 25 mmHg (média: 12 mmHg. Não ocorreram óbitos ou complicações significativas nesta série. Conclui-se que a correção total da tétrade de Fallot no primeiro ano de vida pode ser realizada com baixa mortalidade, podendo essa conduta ter vantagens sobre a correção em dois tempos.From January 1996, to November 1997, 15 consecutive infants ranging in age from 3 to 11 months (mean: 6 months and weigh ing from 5 to 9 kilograms (mean: 7.2 kilograms underwent elective total repair of tetralogy of Fallot. Thirteen had symptoms of hypoxemia and two were acyanotic. Definitive diagnosis was established in all cases by two-dimensional echocardiography. Intracardiac correction was accomplished with conventional cardiopulmonary bypass and moderate hypothermia. Myocardial protection was obtained by cold cristaloide cardioplegia infused into the aorta and topical hypothermia of the heart. Bypass time ranged from 50 to 125 minutes

  1. A Rare Case of Neonatal Complicated Appendicitis in a Child with Patau’s Syndrome

    OpenAIRE

    Valentina Pastore; Fabio Bartoli

    2014-01-01

    Neonatal appendicitis is a rare condition with high mortality rate. Signs and symptoms are often nonspecific, imaging modalities are not always diagnostic, and preoperative diagnosis is difficult with subsequent delay and complications. Its pathophysiology may be different from appendicitis in older children and comorbidities can be found. We report a case of a female neonate with Patau’s syndrome, intestinal malrotation, and Fallot tetralogy in whom perforated appendix, probably occurring du...

  2. Pulmonary valve replacement and quality-of-life assessment.

    Science.gov (United States)

    Tsang, Flora H F; Wong, Sophia J; Cheung, Yiu-fai

    2016-01-01

    Chronic pulmonary regurgitation is common after repair of tetralogy of Fallot. Despite the deleterious effects of chronic pulmonary regurgitation on right ventricular function, many patients with repaired tetralogy of Fallot remain asymptomatic. Health is defined not only by the absence of disease but also by physical, mental, and social wellbeing. We sought to examine the impact of pulmonary valve replacement on quality of life in asymptomatic patients with repaired tetralogy of Fallot and chronic pulmonary regurgitation. From January 2009 to December 2012, 25 (18 male) asymptomatic patients (mean age 23.4 ± 7.4 years) who underwent pulmonary valve replacement for significant pulmonary regurgitation were recruited. Cardiac magnetic resonance was performed pre- and postoperatively. Quality of life was assessed using the Chinese version of the SF-36v2 evaluation tool. Demographics, clinical data, magnetic resonance findings, and quality-of-life scores were collected and calculated for comparison. After surgery, the indexed right ventricular end-diastolic volume (193 ± 47.3 vs. 105.6 ± 29.6 mL m(-2), p quality-of-life assessments were 100%. Patients demonstrated improvements in all 8 domains of the SF-36v2 assessment. The physical (46.5 ± 6.6 vs. 49.9 ± 6.4, p = 0.012) and mental (43.7 ± 7.8 vs. 51.9 ± 7.6, p quality of life in patients with chronic asymptomatic pulmonary regurgitation. © The Author(s) 2015.

  3. Adults with repaired tetralogy: low mortality but high morbidity up to middle age.

    Science.gov (United States)

    Dennis, Mark; Moore, Ben; Kotchetkova, Irina; Pressley, Lynne; Cordina, Rachael; Celermajer, David S

    2017-01-01

    Survival of patients with repaired tetralogy of Fallot (rToF) into young adulthood is very good. Concerns exist, however, over long-term morbidity and mortality as these subjects reach middle age. We aimed to assess survival and the prevalence of complications in patients with rToF seen in our Adult Congenital Heart Disease (ACHD) service. One hundred and sixty-eight consecutive patients with 'simple rToF', aged over 16 years, followed up at our tertiary-level ACHD service in Sydney, Australia since 2000, were included. We documented mortality and analysed the prospectively defined composite end points of (a) 'Serious adverse events', including death, heart failure hospitalisation and/or documented ventricular arrhythmia and (b) 'Adverse events' inclusive of the above and endocarditis, atrial arrhythmia, defibrillator and/or pacemaker implantation. Mean age at the last follow-up was 34±12 years, and 55% were men. There were 10 (6%) deaths, and 26 patients (16%) experienced a 'serious adverse event'. Fifty-one patients (30%) experienced an 'adverse event' and 29 patients had atrial arrhythmias. One hundred and one (61%) patients had at least one pulmonary valve replacement. By age 40 years, 93% were free of serious adverse events, and 83% were free of any adverse event. By age 50 years, only 56% had not had an adverse event. Older age and history of atrial arrhythmia were predictive of serious adverse events. Survival into mid-adulthood in patients with rToF is very good; however, a substantial number of survivors have adverse events by the age of 50 years.

  4. Repair of congenital heart defects associated with single pulmonary artery.

    Science.gov (United States)

    Bockeria, Leo A; Makhachev, Osman A; Khiriev, Titalav Kh; Podzolkov, Vladimir P; Zelenikin, Mikhail A; Kim, Aleksey I; Zaets, Sergey B

    2015-02-01

    Experience with complete repair of congenital heart defects associated with unilateral absence of a pulmonary artery is limited. The aim of this retrospective study was to present our surgical experience of this complex category of patients, to analyze immediate results of surgical interventions, and to suggest a rational surgical strategy. Of 37 patients with a single pulmonary artery who underwent complete repair of associated heart defects, the left or right pulmonary artery was absent in 32 and 5, respectively. The most frequent heart defects were tetralogy of Fallot (n = 25) and ventricular septal defect (n = 8). The median age of these patients was 7.1 years. Preoperative examinations included echocardiography, cardiac catheterization and angiocardiography, with quantitative assessment of the single pulmonary artery. In-hospital parameters of surgical outcome were analyzed. Recorded hospital mortality was 2.7% (1/37). The single death was in a patient with tetralogy of Fallot, agenesis of the left pulmonary artery, and a small diameter of the contralateral pulmonary artery (Nakata index 174 mm(2)·m(-2)). The right-to-left ventricular systolic pressure ratio after complete tetralogy of Fallot repair in patients who survived the operation was 0.58 ± 0.11. Complete repair of congenital heart defects in patients with unilateral absence of a pulmonary artery is associated with a relatively low risk. If the hilar artery is of adequate size, surgical intervention should attempt restoration of the communication between the disconnected hilar artery and the pulmonary trunk, in addition to repairing the heart defects. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  5. Management of high-risk reentry sternotomy in an infant for repair of a giant pseudoaneurysm of the right ventricular outflow tract

    Directory of Open Access Journals (Sweden)

    Bryan G Maxwell

    2014-01-01

    Full Text Available Improved survival from congenital heart disease has led to an increasing need for complex reoperation by reentrant sternotomy. Peripheral cannulation and initiation of cardiopulmonary bypass prior to sternotomy to avoid the risk of cardiac injury and massive hemorrhage is an option in adults and larger children, but femoral vessel size precludes this strategy in infants. We describe the management of a high-risk reentry sternotomy in an infant for repair of a giant pseudoaneurysm after prior homograft repair of tetralogy of Fallot, using surgical dissection for suprasternal cannulation of the innominate artery and subxyphoid cannulation of the inferior vena cava.

  6. "Y Sign" at the Level of the 3-Vessel and Trachea View: An Effective Fetal Marker of Aortic Dextroposition Anomalies in the First Trimester.

    Science.gov (United States)

    Pasternok, Marcin; Nocun, Agnieszka; Knafel, Anna; Grzesiak, Mariusz; Orzechowski, Maciej; Konarska, Katarzyna; Ludwin, Artur; Ludwin, Inga; Zymroz, Piotr; Parzynska, Anna; Wiechec, Marcin

    2017-12-27

    The "Y sign" at the level of the 3-vessel and trachea view corresponds to thinning of main pulmonary artery and arterial duct and a dilated transverse aortic arch. The purpose of this study was to evaluate the Y sign for the diagnosis of aortic dextroposition anomalies at the time of the first-trimester scan and to assess the screening performance of only the Y sign, only abnormal left axis deviation (axis sign), and their combination for the diagnosis of aortic dextroposition anomalies. A prospective evaluation of 6025 pregnant women undergoing first-trimester ultrasonography was conducted. The cardiac axis was measured in all examined patients and considered abnormal (positive axis sign) at greater than 57 °. The frequency of the Y sign and the axis sign was assessed for this population, and their screening performance for the diagnosis of aortic dextroposition anomalies was calculated. A total of 5775 patients fulfilled the inclusion criteria. Aortic dextroposition anomalies were diagnosed in 17 cases (tetralogy of Fallot in 8 and Fallot-like double-outlet right ventricle in 9). The Y sign was found in 18 of 5775 (0.3%) fetuses examined, of which 7 of 18 were confirmed with tetralogy of Fallot, 9 of 18 with a Fallot-like double-outlet right ventricle, and 2 of 18 with pulmonary stenosis. A positive axis sign of greater than 57 ° was found in 20 fetuses, including 4 with normal heart anatomy. The sensitivity values of the Y sign, the axis sign, and their combination were 94%, 76%, and 94%, respectively. Visualization of the Y sign should increase the suspicion of aortic dextroposition anomalies in the late first trimester. The screening performance of the Y sign alone and in combination with an abnormal cardiac axis was high and may aid in the early diagnosis of aortic dextroposition anomalies in the fetus. © 2017 by the American Institute of Ultrasound in Medicine.

  7. Evolving hybrid approaches: the preservation of the 'neglected' pulmonary valve function in patients with congenital heart disease.

    Science.gov (United States)

    Vida, Vladimiro L; Bacha, Emile; Stellin, Giovanni

    2016-07-01

    The involvement of the hemodynamic expertise in the operating room led to the development of new strategies aimed to improve both early and long-term outcome of patients with congenital heart disease. During the last decade, with the aim of preserving the pulmonary valve function, we embarked on a new surgical approach, which combines surgical and interventional techniques, which are performed in the operating room. We believe that the preservation of the pulmonary valve function can be extended to any patients with classic tetralogy of Fallot and other selected patients with congenital pulmonary valve hypoplasia and dysfunction.

  8. Spectrum of cyanotic congenital heart disease diagnosed by echocardiographic evaluation in patients attending paediatric cardiology clinic of a tertiary cardiac care centre.

    Science.gov (United States)

    Patra, Soumya; Rama Sastry, Usha M K; Mahimaiha, J; Subramanian, Anand P; Shankarappa, Ravindranath K; Nanjappa, Manjunath C

    2015-06-01

    Cyanotic CHD comprises up to 25% of cases of all causes of CHD. There is lack of data about the present spectrum of congenital cyanotic heart disease in the paediatric age group. The present study was undertaken to determine the spectrum of patients with congenital cyanotic heart disease in the paediatric age group in tertiary paediatric cardiac care clinic. Prospective observational study. Paediatric cardiac clinic of a tertiary cardiac care centre. All children aged 0-18 years with suspected cyanotic CHD were provisionally included in this study. They underwent a thorough echocardiographic evaluation, and those patients who had definitive diagnosis of congenital cyanotic heart disease were included for final analysis. A total of 119 children met the inclusion criteria. Tetralogy of Fallot and its variant were the most common congenital cyanotic heart disease with proportion of about 44%. Other common malformations were double outlet right ventricle (14%), pulmonary atresia with ventricular septal defect (8%), total anomalous pulmonary venous connection (7%), d-transposition of the great arteries (9%), tricuspid valve anomalies--tricuspid atresia and Ebstein's anomaly--hypoplastic left-heart syndrome, truncus arteriosus, and complex CHD such as single ventricle. Tetralogy of Fallot and its variants were the most common cyanotic heart disease diagnosed in our patients. As there were a significant proportion of cases with complex cyanotic CHD, paediatric cardiologists should be familiar with the diagnosis and management of all these complex congenital malformations of the heart.

  9. Comparison of fetal and postnatal echocardiography results

    Directory of Open Access Journals (Sweden)

    A. A. Sokolov

    2014-01-01

    Full Text Available The analysis of echocardiography results in 394 fetuses and 570 neonates showed the high accuracy of prenatal diagnosis of congenital heart disease (CHD in a specialized cardiac surgery facihty. The accuracy of critical CHD identification at the unspeciahzed stage of fetal diagnosis was 50%. Heart defects, such as aortic coarctation, interrupted aortic arch, and total anomalous pulmonary venous drainage, turned out to be most difficult for prenatal diagnosis (at all stages. There were no problems in the prenatal diagnosis of the following defects: tetralogy of Fallot, all types of single ventricle defect, and atrioventricular septal defect. The discordances between the diagnosis of CHD by fetal echocardiography at an obstetric stage and that in a specialized cardiology facihty were mostly due to the inaccurate description of all components of complex heart defects.

  10. Assessment of right ventricular function and anatomy using peripheral vein infusion of krypton 81m

    Energy Technology Data Exchange (ETDEWEB)

    Sugrue, D.D.; Kamal, S.; Deanfield, J.E.; McKenna, W.J.; Myers, M.J.; Watson, I.A.; Oakley, C.M.; Lavender, J.P. (Royal Postgraduate Medical School, London (UK))

    1983-09-01

    A method for imaging the right side of the heart (atrium, ventricle and main pulmonary artery) and for assessment of RV systolic function (ejection fraction and ejection rate) is described. An ultra-short-lived isotope (/sup 81/Krsup(m)) is continuously eluted in 5% dextrose and infused into an ante-cubital arm vein; standard multigated images are acquired using a gamma camera and commercially available software. Preliminary evaluation of the method in 55 subjects (20 with repaired tetralogy of Fallot, 14 with dilated cardiomyopathy and 21 normal volunteers) showed that the technical success rate was 100%; that RV boundaries free from LV overlap can be clearly visualised due to efficient exhalation of /sup 81/Krsup(m) through the lungs and that /sup 81/Krsup(m) measurements of RVEF are reproducible. The technique offers considerable potential for serial non-invasive assessment of RV function.

  11. 2013 College of Diplomates of the American Board of Pediatric Dentistry Annual Meeting: pediatric cardiology: an overview.

    Science.gov (United States)

    Driscoll, David J

    2013-01-01

    Congenital heart defects can be classified as those characterized by a left to right shunt, a right to left shunt, obstruction to flow from the heart, or abnormalcies of myocardial contraction and relaxation. Left to right shunts include atrial and ventricular septal defects, and patent ductus arteriosus. Right to left shunts include transposition of the great arteries, tetralogy of Fallot, tricuspid atresia among others. These defects result in cyanosis. Lesions causing obstruction to blood flow from the heart include aortic and pulmonary valve stenosis and coarctation of the aorta. Disorders of myocardial contraction and relation include hypertrophic, dilated, and restrictive cardiomyopathies. In addition, the author will discuss innocent heart murmur and Kawasaki’s disease.

  12. Use of asthma medication during pregnancy and risk of specific congenital anomalies

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Morris, Joan

    2015-01-01

    . In addition, exploratory analyses were done for each nonsignal anomaly. The data set included 76,249 registrations of congenital anomalies from 13 EUROmediCAT registries. RESULTS: Cleft palate (OR, 1.63; 95% CI, 1.05-2.52) and gastroschisis (OR, 1.89; 95% CI, 1.12-3.20) had significantly increased odds......, or tetralogy of Fallot. None of the 4 literature signals of exposure to inhaled steroids were confirmed (cleft palate, cleft lip, anal atresia, and hypospadias). Exploratory analyses found an association between renal dysplasia and exposure to the combination of long-acting β2-agonists and inhaled...... corticosteroids (OR, 3.95; 95% CI, 1.99-7.85). CONCLUSIONS: The study confirmed increased odds of first-trimester exposure to inhaled β2-agonists for cleft palate and gastroschisis and found a potential new signal for renal dysplasia associated with combined long-acting β2-agonists and inhaled corticosteroids...

  13. Dental management of the Down and Eisenmenger syndrome patient.

    Science.gov (United States)

    Chung, Evelyn M; Sung, Eric C; Sakurai, Kari L

    2004-05-15

    About 40% to 50% of Down syndrome (DS) patients can have significant congenital heart defects such as patent ductus arteriosus, Tetralogy of Fallot, and septal defects. Patients with large septal defects may develop Eisenmenger syndrome (ES), which is defined by the cardiac septal defect and pulmonary hypertension coupled with a reverse right to left shunting of blood flow. DS patients that suffer from this condition require special considerations in the delivery of their dental care to prevent further medical complications or emergencies such as infection, cyanotic episodes, and thromboemboli. Collaboration with the cardiologist is also essential to ensure a complete and comprehensive pre-operative work up. The purpose of this article is to describe the dental management of DS patients with ES under general anesthesia.

  14. The Cardiac MR Images and Causes of Paradoxical Septal Motion

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Dong Hun [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of); Choi, Sang Il; Chun, Eun Ju [Seoul National University Bundang Hospital, Seongnam (Korea, Republic of); Choi, Sung Hun [Ulsan University Hospital, Ulsan (Korea, Republic of); Park, Jae Hyung [Seoul National University Hospital, Seoul (Korea, Republic of)

    2010-10-15

    Real-time cine MRI studies using the steady-state free precession (SSFP) technique are very useful for evaluating cardiac and septal motion. During diastole, the septum acts as a compliant membrane between the two ventricles, and its position and geometry respond to even small alterations in the trans-septal pressure gradients. Abnormal septal motion can be caused by an overload of the right ventricle, delayed ventricular filling and abnormal conduction. In this study, we illustrate, based on our experiences, the causes of abnormal septal motion such as corrective surgery for tetralogy of Fallot, an atrial septal defect, pulmonary thromboembolism, mitral stenosis, constrictive pericarditis and left bundle branch block. In addition, we discuss the significance of paradoxical septal motion in the context of cardiac MR imaging.

  15. A Case of Re-Expansion Pulmonary Edema after Rapid Pleural Evacuation

    Directory of Open Access Journals (Sweden)

    SH Shahbazi

    2007-07-01

    Full Text Available Introduction & Objective: Pulmonary edema after chest tube insertion is a rare complication and is associated with high mortality. The cause of this phenomenon is not clear, although causes such as decrease in surfactant and inflammatory process have been defined. Early diagnosis and treatment decrease the mortality. This study introduces a case of re-expansion pulmonary edema after rapid pleural evacuation. Case: The case is a 4.5 y/o boy, a case of Tetralogy of Fallot, who developed respiratory distress after surgery (Total Correction in ICU of Namazi Hospital in 1385. Chest X ray showed pneumothorax of left lung. For the patient, chest tube was inserted and the symptoms improved. After few hours the patient developed tachypnea, tachycardia, and CXR showed pulmonary edema of left lung. Appropriate treatment was done for the patient and his condition improved. Conclusion: Pulmonary edema after sudden evacuation of pleura is a rare phenomenon and early diagnosis decreases the mortality.

  16. Apoptosis of cardiomyocytes in children with right ventricular pressure overload with and without hypoxemia.

    Science.gov (United States)

    Tsang, Flora Hau Fung; Chow, Pak-Cheong; Ma, Yuen-Yuen; Man, Kwan; Cheng, Lik-Cheung; Cheung, Yiu-Fai

    2014-07-01

    Cardiomyocyte apoptosis has been implicated in ventricular remodeling and initiation of cardiac failure. We sought to determine the severity of right ventricular (RV) cardiomyocyte apoptosis in cyanotic and acyanotic children with RV pressure overload. Fourteen patients, seven with tetralogy of Fallot (group I) and seven with pulmonary stenosis and ventricular septal defect (group II), undergoing open-heart surgery were studied. Right ventricular biopsies were examined for cardiomyocyte apoptosis by terminal deoxynucleotide transferase-mediated dUTP nick-end labeling. The magnitude of cardiomyocyte apoptosis was related to preoperative oxygen saturation and postoperative inotrope use and hospital stay. Compared with group I patients, group II patients were significantly older at operation (p = 0.002) and had a larger body size (p right ventricle is related to the severity of hypoxia and may have an impact on postoperative course in terms of early postoperative use of inotropes and duration of hospital stay. © 2014 Wiley Periodicals, Inc.

  17. Evaluation of canine congenital heart disease using an echocardiographic algorithm.

    Science.gov (United States)

    Oyama, M A; Sisson, D D

    2001-01-01

    Evaluation of canine congenital heart disease presents a diagnostic challenge to many ultrasonographers. To assist clinicians attempting to examine these patients, an echocardiographic algorithm containing the six most common canine congenital heart diseases (i.e., patent ductus arteriosus, subaortic stenosis, pulmonic stenosis, ventricular septal defect, tricuspid dysplasia, and tetralogy of Fallot) is presented. The algorithm focuses on the underlying disease pathogenesis and the resultant changes in cardiac structure and function that can be readily identified during echocardiographic examination. Use of this algorithm provides a framework from which the ultrasonographer gains both experience and confidence in diagnosing congenital heart disease via echocardiography. This algorithm is supported by a number of still figures within the article as well as real-time echocardiographic images available for viewing at AAHA's website, www.aahanet.org.

  18. The CT appearances of delayed amniotic fluid clearance from the lungs in an infant with absent pulmonary valve and congenital lobar emphysema

    Energy Technology Data Exchange (ETDEWEB)

    Fink, A. Michelle [Royal Children' s Hospital, Department of Medical Imaging, Parkville, Victoria (Australia); University of Melbourne, Melbourne, Victoria (Australia); Edis, Brian [Royal Children' s Hospital, Department of Cardiology, Parkville, Victoria (Australia); Massie, John [University of Melbourne, Melbourne, Victoria (Australia); Royal Children' s Hospital, Department of Respiratory Medicine, Parkville, Victoria (Australia); Murdoch Children' s Research Institute, Melbourne, Victoria (Australia)

    2005-09-01

    Congenital lobar emphysema (CLE) is a cause of severe neonatal respiratory distress. Overexpansion of the affected pulmonary lobe in the fetus is due to narrowing of the airway, with a resultant 'ball-valve' effect. At birth, there may be delayed clearance of fetal lung fluid. Early chest radiographs show opacification of the hyperexpanded lobe. The CT findings in the immediate neonatal period have not been previously reported. We describe the imaging in a neonate with tetralogy of Fallot and absent pulmonary valve with secondary CLE. CT demonstrates the hyperexpanded lobe with initial thickening of the interlobular septa and alveolar ground glass attenuation, with subsequent clearing. This resorption of fetal lung fluid via the pulmonary interstitium should not be confused with interstitial lung disease. (orig.)

  19. Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).

    Science.gov (United States)

    Digilio, Mc; Marino, B; Capolino, R; Dallapiccola, B

    2005-04-01

    Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present in 75% of patients with Del22. The most frequently seen cardiac malformations are "conotruncal" defects, including tetralogy of Fallot (TF), pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA), interrupted aortic arch (IAA), and ventricular septal defect (VSD). The study of the specific "cardiac phenotype" in patients with Del22 shows that a particular cardiac anatomy can be identied in these subjects. In addition to CHD, various organ systems can be involved, so that a multidisciplinary approach is needed in the evaluation of patients with Del22.

  20. Hybrid pulmonary valve implantation: injection of a self-expanding tissue valve through the main pulmonary artery.

    Science.gov (United States)

    Dittrich, Sven; Gloeckler, Martin; Arnold, Raoul; Sarai, Koppany; Siepe, Matthias; Beyersdorf, Friedhelm; Schlensak, Christian

    2008-02-01

    An 8-year-old (35 kg) boy presented with progressive right ventricular outflow tract enlargement (28 mm) and progressive tricuspid regurgitation after transannular repair of tetralogy of Fallot and was scheduled for pulmonary valve replacement. To spare reoperation on full sternotomy, a transverse mini-thoracotomy through the third intercostal space was used to implant an injectable 29-mm stented porcine valve directly through an incision of the pulmonary artery bifurcation. The procedure was performed while rapid ventricular pacing and right ventricular unload by a short running femorally implanted cardiopulmonary bypass. The stented valve was fixed with three single sutures to avoid embolization. The interventional result was well with full competence of the valve. The boy was discharged at day 4 after the procedure.

  1. Value of the Electrocardiogram as a Predictor of Right Ventricular Dysfunction in Patients With Chronic Right Ventricular Volume Overload.

    Science.gov (United States)

    Alonso, Pau; Andrés, Ana; Rueda, Joaquín; Buendía, Francisco; Igual, Begoña; Rodríguez, María; Osa, Ana; Arnau, Miguel A; Salvador, Antonio

    2015-05-01

    Pulmonary regurgitation is a common complication in patients with repaired tetralogy of Fallot or congenital pulmonary stenosis. Electrocardiographic variables have been correlated with parameters used to evaluate right ventricular function. We aimed to analyze the diagnostic value of the width and fragmentation of the electrocardiogram in the identification of patients with right ventricular dysfunction and/or dilation. We selected 107 consecutive patients diagnosed with severe pulmonary insufficiency after repair of pulmonary stenosis or tetralogy of Fallot. The tests included electrocardiography, echocardiography, and magnetic resonance. Each electrocardiogram was analyzed manually to measure QRS duration. We defined QRS fragmentation as the presence of low-voltage waves in the terminal portion of the QRS complex in at least 2 contiguous leads. We found a significant negative correlation between QRS width and right ventricular function, as well as a positive correlation with right ventricular volume. The receiver operating characteristic curve indicated a cut-off point for QRS width of 140ms, which showed good sensitivity for a diagnosis of right ventricular dilation (> 80%) and dysfunction (> 95%). In logistic regression models, a QRS duration > 140ms was found to be the only independent predictor of right ventricular dilation and dysfunction. Electrocardiography is a rapid, widely available, and reproducible tool. QRS width constitutes an independent predictor of the presence of right ventricular dilation and dysfunction. This study is the first to provide a cutoff value for QRS width to screen for right ventricle involvement. Copyright © 2014 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  2. Types and distribution of congenital heart defects associated with trisomy 21 in Singapore.

    Science.gov (United States)

    Tan, Monica; Xu, Cunzhi; Sim, Sarah K R; Seow, Adeline L H; Tan, Teng Hong; Quek, Swee Chye

    2013-03-01

    Atrioventricular septal defect (AVSD) is widely accepted as the most common type of congenital heart defect in trisomy 21. Most of these studies, however, were conducted in Caucasian communities. The few Asian studies that had been conducted on this subject yielded different results. In the largest study of its kind in Asia, we described the distribution of types of congenital heart defects associated with trisomy 21 in Singapore. Five hundred and eighty-eight patients with trisomy 21 born in 1996-2010, and confirmed by karyotyping, were included in the study. The diagnosis of congenital heart defects were made on echocardiography. Variables extracted for analysis were demographics (race and gender) and the types of congenital heart defects. Except for complex cyanotic heart defects, haemodynamically significant lesions were accounted for separately in cases where more than one type of congenital heart defect coexisted in a patient. Ventricular septal defect (VSD) (39.2%) was the most common congenital heart defect associated with trisomy 21 in our study, followed by patent ductus arteriosus (34.3%), secundum atrial septal defect (23.4%) and AVSD (15.6%). This study validates previous smaller Asian studies identifying VSD as the most common cardiac lesion associated with trisomy 21. A high proportion (25.0%) of trisomy 21 patients with tetralogy of Fallot also had AVSDs. Coarctation of the aorta was uncommon. VSD was the most common congenital heart defect seen in trisomy 21 in our study. A high proportion (25.0%) of trisomy 21 patients with tetralogy of Fallot also had AVSDs. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  3. The usefulness of brain natriuretic peptide in complex congenital heart disease: a systematic review.

    Science.gov (United States)

    Eindhoven, Jannet A; van den Bosch, Annemien E; Jansen, Philip R; Boersma, Eric; Roos-Hesselink, Jolien W

    2012-11-20

    Brain natriuretic peptide (BNP) and N-terminal pro-brain natriuretic peptide (NT-proBNP) are well-established markers for heart failure in the general population. However, the value of BNP as a diagnostic and prognostic marker for patients with structural congenital heart disease (CHD) is still unclear. Therefore, the purpose of this study was to evaluate the clinical utility of BNP in patients with CHD. We executed a PubMed literature search and included 49 articles that focused on complex congenital heart defects such as tetralogy of Fallot, systemic right ventricle, and univentricular hearts. Data on BNP measurements and cardiac function parameters were extracted. In all patients after correction for tetralogy of Fallot, BNP levels were elevated and correlated significantly with right ventricular end-diastolic dimensions and severity of pulmonary valve regurgitation. Patients with a systemic right ventricle had elevated BNP levels, and positive correlations between BNP and right ventricular function were seen. In patients with a univentricular heart, elevated BNP levels were observed before completion of the Fontan circulation or when patients were symptomatic; a clear association between BNP and New York Heart Association functional class was demonstrated. In conclusion, this review shows an overall increase in BNP values in complex CHD, although differences between types of congenital heart anomaly are present. As BNP values differ widely, conclusions for individual patients should be drawn with caution. Further investigation with sequential BNP measurement in a large, prospective study is warranted to elucidate the prognostic value of BNP assessment in patients with CHD. Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  4. Elevated birth prevalence of conotruncal heart defects in a population with high consanguinity rate.

    Science.gov (United States)

    Stavsky, Moshe; Robinson, Renana; Sade, Maayan Yitshak; Krymko, Hanah; Zalstein, Eli; Ioffe, Viktorya; Novack, Victor; Levitas, Aviva

    2017-01-01

    The aetiology of conotruncal heart defects is poorly understood and the birth prevalence varies geographically. The known risk factors for developing conotruncal heart defects are as follows: CHD in siblings, genetic chromosomal abnormalities, paternal age >30 years, high parity, low birth weight, prematurity, and maternal diabetes. The aim of this study was to characterise conotruncal heart defects, birth prevalence, mortality, and morbidity in the population of southern Israel, of whom 75% are Jewish and the rest are mostly Bedouin Arabs. The data were obtained from Soroka University Medical Center database of births and newborns. Conotruncal heart defects cases were identified by ICD9 codes. During 1991-2011, there were 247,290 singleton live births and 393 conotruncal heart defects in Soroka University Medical Center. The birth prevalence per 10,000 live births of tetralogy of Fallot, transposition of the great arteries, and truncus arteriosus was 9.5, 5, and 1.8, respectively. In the multivariate analysis, Bedouin descent (adjusted odds ratio 2.40, p35 years (1.66, p=0.004), and siblings with congenital heart defects (1.98, p=0.005) were associated with tetralogy of Fallot, and Bedouin descent (1.61, p=0.05), siblings with congenital heart defects (2.19, p=0.004), and diabetes mellitus (7.15, pprevalence of conotruncal heart defects compared with the birth prevalence reported worldwide, specifically among the Bedouins, a population characterised with high consanguinity rate. Therefore, genetic counselling and early fetal echocardiograms should be encouraged, especially in high consanguinity rate populations. Naturally, further educational efforts are needed in order to decrease consanguinity and its related consequences.

  5. Acute heart failure in an adult with unrecognized congenital heart disease.

    Science.gov (United States)

    Correale, Michele; Lopizzo, Agostino; Santoro, Francesco; Ruggero, Antonio; Cuculo, Andrea; Leva, Riccardo; Di Biase, Matteo

    2011-09-01

    We report a case of 46 year-old man, admitted to our Department for a possible massive pulmonary embolism. Instead, diagnosis of Tetralogy of Fallot was established by echocardiography and cardiac catetherization.

  6. Cerebral And Myocardial Infarction In A Patient With Uncorrected ...

    African Journals Online (AJOL)

    embolism. Ischaemia from thrombotic occlusion of vessels supplying major organs may occur. The case is presented of a 17 year old boy with Tetralogy of Fallot (TOF) who developed acute myocardial infarction (AMI) and cerebral infarction ...

  7. The development of pacing induced ventricular dysfunction is influenced by the underlying structural heart defect in children with congenital heart disease.

    Science.gov (United States)

    Balaji, Seshadri; Sreeram, Narayanswami

    Right ventricular pacing can cause pacing-induced ventricular dysfunction (PIVD) correctable with biventricular pacing (BiVP). Factors associated with PIVD are poorly understood. We reviewed children receiving epicardial dual-chamber pacemakers for complete heart block (CHB) after congenital heart disease (CHD) surgery. PIVD was defined as% fractional shortening hearts and underwent epicardial dual chamber pacemaker implantation. Nine of the 47 (19%) developed PIVD. PIVD occurred in 0/10 with ventricular septal defect (VSD), 0/6 with tetralogy of Fallot, 2/6 with double outlet right ventricle, 2/6 with transposition and VSD, 3/9 with atrioventricular canal defect, 1/2 with mitral valve replacement; 1/3 with congenitally corrected TGA repair; and 0/3 with atrioventricular canal plus tetralogy of Fallot and 0/1 with subaortic membrane. QRS duration (QRSD) was 84-170 (median 135ms) in the non PIVD group and 100-168 (median 124) ms in the PIVD group. Percentage fractional shortening (%FS) while paced was 16-46, median 30% in the non-PIVD group and 6-15 (median 11%) in the PIVD group.%FS post upgrade to BiVP (with an epicardial LV lead) in the 9 patients with PIVD was 23-33 (median 29%). PIVD occurred in certain CHD but not others. Prolonged QRSD was not associated with PIVD. The predilection for RV pacing to result in PIVD in certain types of CHD needs further study. Copyright © 2016. Published by Elsevier B.V.

  8. Who Needs Heart Surgery?

    Science.gov (United States)

    ... children, go to the Health Topics articles about congenital heart defects , holes in the heart , and tetralogy of Fallot . Overview The most common type of heart surgery for adults is coronary artery ...

  9. Disease: H01803 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ilarities with tetralogy of Fallot (TOF) and has been co...f the cases with pulmonary atresia are associated with MAPCAs, which can vary greatly in number and site of origin. PA-VSD shares sim

  10. Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease.

    Science.gov (United States)

    Zhao, Lan; Ni, Shi-Hong; Liu, Xing-Yuan; Wei, Dong; Yuan, Fang; Xu, Lei; Xin-Li; Li, Ruo-Gu; Qu, Xin-Kai; Xu, Ying-Jia; Fang, Wei-Yi; Yang, Yi-Qing; Qiu, Xing-Biao

    2014-10-01

    Congenital heart disease (CHD) is the most common form of birth defect and is the most prevalent non-infectious cause of infant death. A growing body of evidence documents that genetic defects are involved in the pathogenesis of CHD. However, CHD is a genetically heterogeneous disease and the genetic basis underpinning CHD in an overwhelming majority of patients remain unclear. In this study, the coding exons and flanking introns of the Nkx2.6 gene, which codes for a homeodomain-containing transcription factor important for normal cardiovascular development, were sequenced in 320 unrelated patients with CHD, and two novel heterozygous Nkx2.6 mutations, p.V176M and p.K177X, were identified in two unrelated patients with CHD, respectively, including a patient with tetralogy of Fallot and a patient with double outlet of right ventricle and ventricular septal defect. The mutations were absent in 400 control chromosomes and the altered amino acids were completely conserved evolutionarily across species. Due to unknown transcriptional targets of Nkx2.6, the functional consequences of the identified mutations at transcriptional activity were evaluated by using Nkx2.5 as a surrogate. Alignment between human Nkx2.6 and Nkx2.5 proteins showed that V176M-mutant Nkx2.6 was equivalent to V182M-mutant Nkx2.5 and K177X-mutant Nkx2.6 was equal to K183X-mutant Nkx2.5, and introduction of V182M or K183X into Nkx2.5 significantly diminished its transcriptional activating function when compared with its wild-type counterpart. To our knowledge, this is the first report on the association of Nkx2.6 loss-of-function mutation with increased susceptibility to tetralogy of Fallot or double outlet of right ventricle and ventricular septal defect, providing novel insight into the molecular mechanism of CHD. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  11. Heart transplantation in the setting of complex congenital heart disease and physiologic single lung.

    Science.gov (United States)

    Zuckerman, Warren A; Richmond, Marc E; Lee, Teresa M; Bacha, Emile A; Chai, Paul J; Chen, Jonathan M; Addonizio, Linda J

    2015-12-01

    To highlight the success of heart transplantation in patients with complex congenital heart disease and physiologic single lung by providing an update on the world's largest reported cohort. Demographic, perioperative, postoperative, and outcomes data were collected retrospectively on all patients undergoing heart transplant to single lung at Columbia University Medical Center since 1992, and compared with all other patients undergoing transplants performed for single ventricle or tetralogy of Fallot during that time. Twenty-two patients (mean age, 20.6 years; range, 5 months-47 years) underwent heart transplant to single lung. Compared with controls (n = 67), the single lung group had more male patients and a greater proportion of tetralogy compared with single ventricle patients, although the single lung group had fewer post-Fontan patients. Age, weight, and body surface area were similar between the groups as were use of mechanical circulatory support and mechanical ventilation before transplant. Median time to extubation, time on inotropes, and length of stay were similar. There were 3 perioperative deaths, including a patient who died during postoperative day 1 from primary graft failure, likely related to a combination of elevated pulmonary vascular resistance and volume load. There were 5 additional mortalities during intermediate- and long-term follow-up, none of which were related to single-lung physiology. There was no significant survival difference between the groups. In patients with complex congenital heart disease and single lung physiology, heart transplant alone remains an excellent option, with comparable outcomes to patients undergoing transplant with similar cardiac anatomy and dual lung physiology. Copyright © 2015 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

  12. Right ventricular Hemodynamic Alteration after Pulmonary Valve Replacement in Children with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Hamid Bigdelian

    2015-03-01

    Full Text Available Introduction:  In patients who underwent surgery to repair Tetralogy of Fallot, right ventricular dilation from pulmonary regurgitation may be result in right ventricular failure, arrhythmias and cardiac arrest. Hence, pulmonary valve replacement may be necessary to reduce right ventricular volume overload. The aim of present study was to assess the effects of pulmonary valve replacement on right ventricular function after repair of Tetralogy of Fallot.   Materials and  Method:  This retrospective study was carried out between July 2011 and October 2013 on 21 consecutive patients in Chamran Heart Center (Esfahan. The study included 13 male (61.9% and 8 female (38.1%. Cardiac magnetic resonance was performed before, 6 and 12 months after pulmonary valve replacement in all patients (Babak Imaging Center, Tehran with the 1.5 Tesla system. The main reason for surgery at Tetralogy of Fallot repaired time was Tetralogy of Fallot + Pulmonary insufficiency (17 cases and Tetralogy of Fallot + Pulmonary atresia (4 cases. Right ventricular function was assessed before and after pulmonary valve replacement with Two-dimensional echocardiography and ttest was used to evaluate follow-up data.   Results:  Right ventricular end-diastolic volume, right ventricular end- systolic volume significantly decreased (P value ˂ 0.05.Right ventricular ejection fraction had a significant increase (P value ˂ 0.05. Right ventricular mass substantially shrank after pulmonary valve replacement. Moreover, pulmonary regurgitation noticeably decreased in patients. The other hemodynamic parameter such as left ventricular ejection fraction improved but was not significant (P value= 0.79. Conclusion:  Pulmonary valve replacement can successfully restores the impaired hemodynamic function of right ventricle which is caused by direct consequence of volume unloading in patient. Pulmonary valve surgery in children with Tetralogy of Fallot who have moderate to severe pulmonary

  13. Reintervenciones quirúrgicas en adultos con situación Fallot: una población emergente

    OpenAIRE

    M. Luz Polo López; Ángel Aroca Peinado; Álvaro González Rocafort; Montserrat Bret Zurita; Juvenal Rey Lois; Raúl Sánchez Pérez; Fernando Villagrá Blanco; Jose M. Oliver Ruiz; Ángel Sánchez Recalde

    2016-01-01

    Introducción-objetivos: La situación Fallot tiene excelente supervivencia posquirúrgica, aunque presenta morbilidad tardía que ocasionalmente precisa reintervención: el 26% de nuestros pacientes seguidos en la unidad de cardiopatías congénitas del adulto han requerido reoperación. Analizamos estas cirugías con sus resultados. Métodos: Estudio retrospectivo (1991-2014), de 90 reoperaciones en 84 adultos con situación Fallot operada. Resultados: Edad media 33 ± 10 años, 59% varones, 2 ± 1...

  14. Bayesian multinomial probit modeling of daily windows of ...

    Science.gov (United States)

    Past epidemiologic studies suggest maternal ambient air pollution exposure during critical periods of the pregnancy is associated with fetal development. We introduce a multinomial probit model that allows for the joint identification of susceptible daily periods during the pregnancy for 12 individual types of CHDs with respect to maternal PM2.5 exposure. We apply the model to a dataset of mothers from the National Birth Defect Prevention Study where daily PM2.5 exposures from weeks 2-8 of pregnancy are assigned (specific to each location and pregnancy date) using predictions from the downscaler pollution model. Results are compared to an aggregated exposure model which defines exposure as the average value over pregnancy weeks 2-8. Increased PM2.5 exposure during pregnancy days 53 and 50-51 for pulmonary valve stenosis and tetralogy of Fallot, respectively, are associated with an increased probability of development of each CHD. The largest estimated effect is seen for atrioventricular septal defects on pregnancy day 14. The aggregated exposure model fails to identify any significant windows of susceptibility during pregnancy weeks 2-8 for the considered CHDs. Considering daily PM2.5 exposures in a new modeling framework revealed positive associations for defects that the standard aggregated exposure model was unable to identify. Disclaimer: The views expressed in this manuscript are those of the authors and do not necessarily represent the views or policie

  15. THE CONGENITAL MALFORMATIONS OF THE HEART FROM THE RURAL ENVIRONMENT OF BACĂU COUNTY

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    Aura Manuela David

    2006-08-01

    Full Text Available : During 1998 – 2003 it has been realized a study on a lot of 27,623 subjects represented by children from Bacu county. There were found 128 cases of congenital malformations of the heart, from which 82 cases are coming from the rural environment. The cases of congenital malformations of the heart are found more at boys (45 than at girls (37. The children found with congenital malformations of the heart are of different ages as following: 0-1 year – 55 cases, 1-3 years – 13 cases, 3-5 years – 3 cases, 5-7 years – 3 cases, 7-10 years – 3 cases and over 10 years – 6 cases. From the cases found in the rural environment, 18 deceases have been registered (14 boys and 4 girls who were under 1 year old. The most frequent congenital malformations of the heart found and confirmed are defects of auricular and ventricular septum, the transposition of the great blood vessels, the auricular and ventricular hypoplasia, coarctation of aorta, the congenital aortic insufficiency, the tetralogy of Fallot, hypoplasic aortic stenosis, the persistence of Botall orifice and the heart’s position right part of the body. A number of 16 children have benefited of surgical treatment of reparation in special clinics from Iai, Bucureti and Târgu Mure.

  16. Study of prevalence & risk factors of congenital heart defect (Review Article

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    ali dehghani

    2017-09-01

    Full Text Available Abstract Background: Congenital heart defects are known as the state that comes from birth and influences on structure and function of baby's heart, The different types of defects can range from mild (e.g., a small hole between the heart chambers to hard (like a flaw or weakness in a part of the heart. Method: This article is a review article in which the articles published in Farsi and English that the bases valid as Medline, Google Scholar, Pubmed, Springer, SID index has been used, as well as for the study of keywords associated with the use of MESH keywords in identifying and no time limit listed in the databases were searched. Result The prevalence of congenital heart defect, in general, less than one per cent in newborn. The ventricular wall abnormalities defect (VSD, atrial septal defect of (ASD, patent ductus arteriosus (PDA and tetralogy of Fallot (TOF Top among the most types of congenital heart anomalies. Factors such as the age of the parents at conception, maternal risk of diabetes, influenza and febrile illness during pregnancy, drug use during pregnancy and taking a multivitamin before and during the Pregnancy were influenced of newborns with congenital heart defects. Conclusion: According to studies need to be conducted in the presence of multiple risk factors for these disorders, seem to have a detailed plan to Study of More about the factors that affect the risk of developing these disorders, as well as interventions to reduce risk factors identified particularly during pregnancy.

  17. Eosinophilic Cystitis Presented as a Manifestation of Hypereosinophilic Syndrome: A Case Report and Review of the Literature

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    Katsuaki Kojima

    2013-02-01

    Full Text Available Background: Hypereosinophilic syndrome (HES is a group of disorders marked by the sustained overproduction of eosinophils, in which eosinophilic infiltration and inflammatory substance release cause damage to multiple organs. Eosinophilic cystitis (EC is an inflammatory disorder caused by eosinophilic infiltration of the bladder wall. Although EC is often associated with eosinophilia, it has been rarely reported as a manifestation of HES. We report a case of EC as a primary manifestation of HES. The patient was a 27-year-old male with a history of complete intracardiac repair of tetralogy of Fallot who presented with an acute onset of dysuria accompanied by eosinophilia (7.5 × 103/µl, 60% of white blood cells. Ultrasonography and MRI of the bladder showed a bladder mass, a biopsy of which revealed eosinophilic infiltration and degranulation. Methods: We performed a literature search in PubMed from 2001 to 2012 to find patients with EC who may have had HES. Results: There were 4 patients with HES who had EC including the present case. Of 14 patients reported as EC in whom the eosinophil count was described, 5 had eosinophils of ≥1,500/µl. None of the 5 patients had secondary causes for eosinophilia. Of the 9 patients with definite or probable HES, 7 patients (78% were male and 5 patients (56% showed a concomitant eosinophilic gastrointestinal disorder. Conclusion: HES may not be uncommon as the cause of EC. Thorough evaluation and close monitoring are warranted in EC patients with elevated eosinophils.

  18. [Echocardiographic diagnosis of anomalous origin of one pulmonary artery from the ascending aorta].

    Science.gov (United States)

    Reyes de la Cruz, Lorenzo; Vizcaíno Alarcón, Alfredo; Arévalo Salas, Alexis; Espinosa Islas, Gonzalo; Bolio Cerdán, Alejandro; Arteaga Martínez, Manuel

    2003-01-01

    To present our experience in the echocardiographic diagnosis of anomalous origin of one pulmonary artery from the ascending aorta (AOPA). To analyze its clinical presentation, treatment and outcomes with special emphasis in the echocardiographic data. We reviewed restrospectively the clinical, hemodynamic data, and surgical findings of patients with an echocardiographic diagnosis of AOPA studied in the Hospital Infantil of Mexico "Federico Gomez" from 1991 to 2002. The study includes 12 children with AOPA; Seven were males. The average age at diagnosis was two months; 4 in neonatal period, 3 under 1 year and 5 older than 1 year. The diagnosis was established prospectively by echocardiography in all patients and it was confirmed by angiography in 8 and at surgery in 9. Ten had anomalous origin of right pulmonary artery. The associated anomalies were patent ductus arteriosus in 6, ventricular septal defect in 2 and aortopulmonary window, atrioventricular discordance, double outlet right ventricle and tetralogy of Fallot in one case each. Nine underwent corrective surgery of all the anomalies. One patient died on the sixth postoperative day; the remaining are in good condition without stenosis at the site of the anastomosis. Surgery was refused in one. One patient was not candidate to surgery due to advanced obstructive pulmonary vascular disease (OPVD) and one case is awaiting surgery. The diagnosis of AOPA may be established with precision through echocardiography. Cardiac catheterization is seldom needed to confirm morphology but is mandatory in older children with suspected of OPVD.

  19. Morphological and molecular bases of cardiac development

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    Joanna Kobylińska

    2013-09-01

    Full Text Available The heart is a mesoderm-derived organ, whose formation is regulated by various genes. Initially, the most important is expression of Nkx2.5, CR1, pitx2, anf and mhc2a, which are responsible for differentiation of cardiomyocytes. In a later phase activation of mhc2b, pitx2c, mesp1, pcmf1, vmhc, xin, mcl2v, mlc2a, mlc2a, mef2, hand1 and hand2 was revealed. Their expression is regulated by various molecules, including transcription (XIN, GATA, MEF, Tbx5, Baf60c, PECAM, tie-2, MEF2 and growth (VEGF, FGF, PDGF factors, as well as proteins (i.e., dickkopf-1, cerberus, cytotactin, fibrillin, nodal, thrombomodulin, Wnt, bone morphometric ones – BMP2, BMP 4, BMP5, BMP7 and other substances, such as retinoid and folic acid. Crucial steps in cardiac organogenesis are development of the ventricle and atrial formation, as well as septation and valve formation. Any disturbances of such processes may lead to various congenital heart diseases and defects that could be initiated by various genetic, epigenetic or environmental factors. The most common heart malformations are: stenosis (coarctation of the aorta and pulmonary trunk, bicuspid aortic valve, atrial and/or ventricular septal defect, persistent truncus arteriosus (Botallo duct, transposition of the great vessels, tricuspid atresia, hypoplastic left and right heart, as well as syndrome of Lutembachera, Cantrell, Ebstein, Eisenmenger and Shone and trilogy, tetralogy, pentalogy of Fallot.

  20. Evaluation of Pulse Oximetry in the Early Detection of Cyanotic Congenital Heart Disease in Newborns.

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    Movahedian, Amir Hosein; Mosayebi, Ziba; Sagheb, Setareh

    2016-04-13

    Background: Delayed or missed diagnosis of critical and cyanotic congenital heart disease (CHD) in asymptomatic newborns may result in significant morbidity and mortality. The aim of this study was to determine the accuracy of pulse oximetry screening performed on the first day of life for the early detection of critical and cyanotic CHD in apparently normal newborns. Methods: This cross-sectional study used postductal pulse oximetry to evaluate term neonates born between 2008 and 2011 with normal physical examinations. Functional oxygen saturation types of CHD in our patients were tetralogy of Fallot (3 cases), transposition of the great vessels (2 cases), double-outlet right ventricle (2 cases), truncus arteriosus, total anomalous pulmonary venous return, atrioventricular septal defect, pulmonary atresia, persistent pulmonary hypertension, ventricular septal defect, and atrial septal defect (1 case for each type). The best time for pulse oximetry was within 8-24 hours of the newborns' life. Conclusion: Pulse oximetry screening along with clinical examination may be able to assist in the early detection of critical and cyanotic CHD in asymptomatic newborns.

  1. Transaortic closure of residual intramural ventricular septal defect.

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    Belli, E; Houyel, L; Serraf, A; Lacour-Gayet, F; Petit, J; Planché, C

    2000-05-01

    Residual intramural ventricular septal defect is an unusual cause of left-to-right shunt after biventricular repair of conotruncal anomalies. It results from the insertion of the patch within the trabeculated right ventricular free wall related to the ventriculoinfundibular fold creating a communication through the intertrabeculated spaces to the right ventricular cavity. This complication often leads to unsuccessful reoperations unless the exact mechanism of the shunt has been identified. Five patients presented with residual intramural ventricular septal defects. Three had double outlet right ventricle, one pulmonary atresia with ventricular septal defect, and one tetralogy of Fallot. One patient was unsuccessfully reoperated on for closure of the residual ventricular septal defect through the right ventricular approach. The surgical treatment, which consisted of patch closure of the residual intramural ventricular septal defect through aortotomy, was successful in 3 patients. In the 2 remaining patients the hemodynamically insignificant residual intramural ventricular septal defect remained untouched. No mortality or morbidity occurred. Residual intramural ventricular septal defect should be suspected in presence of a residual ventricular septal defect after biventricular repair of conotruncal anomalies. It is not accessible through either atriotomy or right ventriculotomy. The transaortic approach allows an easy treatment of this rare complication.

  2. Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez.

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    Balderrábano-Saucedo, Norma; Vizcaíno-Alarcón, Alfredo; Sandoval-Serrano, Erika; Segura-Stanford, Begoña; Arévalo-Salas, Luis A; de la Cruz, Lorenzo Reyes; Espinosa-Islas, Gonzalo; Puga-Muñuzuri, Francisco Javier

    2011-04-01

    Pentalogy of Cantrell is a rare disease. Approximately 185 cases have been reported around the world. The authors performed a retrospective study that reviewed the clinical files and pathological samples of 22 cases of pentalogy of Cantrell treated at the Hospital Infantil de México Federico Gómez. Thirteen patients had ectopia cordis associated with pentalogy of Cantrell (group I), and there were 9 cases without ectopia cordis (group II). In group I, the following types of congenital heart disease were found: single ventricle (4), double-outlet right ventricle (4), ventricular septal defect (3), aortic coarctation (1), and atrial septal defect (1). In group II, the following types of congenital heart disease were found: double-outlet right ventricle (3), double-inlet left ventricle (2), ventricular septal defect (2), tetralogy of Fallot (1), and hypoplastic right ventricle syndrome (1). Nine cases had a ventricular diverticulum (40%). Ten patients (45%) had some other congenital anomaly associated with pentalogy of Cantrell. Thirteen patients underwent surgery (59%), which included cardiac surgery in 10 cases (45%). Sixteen patients died (73%): 11 from group I and 5 from group II (P < .05). Little more than 50 years since it was first described, pentalogy of Cantrell remains a disease with high mortality, especially in patients with associated ectopia cordis.

  3. Review of the role of cardiovascular magnetic resonance in congenital heart disease, with a focus on right ventricle assessment.

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    Bonello, Beatrice; Kilner, Philip J

    2012-11-01

    Adult patients with congenital heart disease (ACHD) represent a growing population due to progress in management. Surgical procedures generally fall short of restoring entirely normal anatomical and functional relations. Further procedures can be needed and lifelong follow-up is required. The right ventricle (RV) plays an important role in congenital heart disease and cardiac magnetic resonance (CMR) imaging has become the imaging method of choice for its assessment. CMR can provide relatively accurate measurements of RV volume and function, and arterial flow, with additional anatomical information provided by three-dimensional contrast angiography and late gadolinium imaging of fibrosis. Here we focus our review on three categories of ACHD in which evaluation of the RV is important: repaired tetralogy of Fallot, the systemic RV and Ebstein anomaly. We demonstrate how CMR contributes to decision-making regarding the types and timings of interventions. A dedicated CMR service should be regarded as a necessary facility of a centre specializing in the care of ACHD patients. Copyright © 2012. Published by Elsevier Masson SAS.

  4. Spectrum of paediatric cardiac diseases: a study of 15,066 children undergoing cardiac intervention at a tertiary care centre in India with special emphasis on gender.

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    Kiran, Viralam S; Nath, Parrimala P; Maheshwari, Sunita

    2011-02-01

    To analyse the relative frequency and gender ratios in the procedures (both surgical and catheter-based interventions) performed for cardiac diseases in Indian children. Not many studies are available in the developing countries with regard to the prevalence, relative frequency, or gender distribution of cardiac diseases in children. As universal newborn screening is not carried out for congenital cardiac diseases, the statistics are difficult to ascertain. Do female and male children with cardiac disease get equal parental preference in terms of surgical correction and catheter interventions in India? This question is also unanswered. Analysis of 15,066 consecutive Indian children aged ratios of cardiac lesions in these children were determined and compared with the studies in literature. Overall male/female ratio in the study was 1.4:1. Ventricular septal defect was the most common lesion (24.2%) with male/female ratio of 1.5:1, followed by tetralogy of Fallot (18.7%, 1.6:1), atrial septal defect (14.4%, 0.9:1) and so on. Male children dominated the total number of procedures performed. In most of the individual cardiac lesions, the relative frequency was different from that of international studies. The gender ratio for the majority of the individual type of cardiac problems was different from that of international references. These findings may suggest a preference for the male child in the treatment of cardiac diseases in India, which could possibly be related to social causes.

  5. Ablation of Atrial Fibrillation in Patients with Congenital Heart Disease.

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    Refaat, Marwan M; Ballout, Jad; Mansour, Moussa

    2017-12-01

    With improved surgical techniques and medical management for patients with congenital heart diseases, more patients are living longer and well into adulthood. This improved survival comes with a price of increased morbidity, mainly secondary to increased risk of tachyarrhythmias. One of the major arrhythmias commonly encountered in this subset of cardiac patients is AF. Similar to the general population, the risk of AF increases with advancing age, and is mainly secondary to the abnormal anatomy, abnormal pressure and volume parameters in the hearts of these patients and to the increased scarring and inflammation seen in the left atrium following multiple surgical procedures. Catheter ablation for AF has been shown to be a very effective treatment modality in patients with refractory AF. However, data and guidelines regarding catheter ablation in patients with congenital heart disease are not well established. This review will shed light on the procedural techniques, success rates and complications of AF catheter ablation in patients with different types of CHD, including atrial septal defects, tetralogy of Fallot, persistent left superior vena cava, heterotaxy syndrome and atrial isomerism, and Ebstein anomaly.

  6. Reintervenciones quirúrgicas en adultos con situación Fallot: una población emergente

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    M. Luz Polo López

    2016-09-01

    Conclusiones: Nuestra indicación principal para reoperar adultos con Fallot se localiza a nivel pulmonar y requiere implantar una bioprótesis. Realizamos estas reintervenciones con buena supervivencia, objetivando posteriormente mejoría clínica y reducción volumétrica ventricular derecha.

  7. Outcome after prenatal and postnatal diagnosis of complex congenital heart defects and the influence of genetic anomalies.

    Science.gov (United States)

    De Groote, Katya; Vanhie, Ellen; Roets, Ellen; Ramaekers, Paul; De Wilde, Hans; Panzer, Joseph; Vandekerckhove, Kristof; Bove, Thierry; François, Katrien; Van Herck, Koen; De Wolf, Daniël

    2017-10-01

    Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD. Single center retrospective study in patients with severe CHD diagnosed prenatally or postnatally (2006 to 2014). A total of 567 patients were included, 176 (31%) after prenatal diagnosis, with large differences in prenatal detection rate among CHD types. Coarctation (24%), tetralogy of Fallot (21%) and univentricular heart (19%) were the most prevalent CHD. Overall mortality rate was 30% with important contributions of prenatal mortality including termination of pregnancy (40%) and postnatal compassionate care (15%). In the group requiring surgery, mortality rate was 12%. Genetic testing was available in 70%. A genetic cause was present in 140/394 patients tested (36%; 25% in the total group). Mortality was higher in the group with abnormal genetic testing compared with those with normal or no genetic testing (57/141 vs 112/423; p = 0,002). Only one third of severe CHD are detected; overall mortality remains high (30%) with major contributions of termination of pregnancy and compassionate care. A genetic cause was found in 36% and was associated with a decreased survival. Counseling must include the possibility of associated genetic pathology and its impact on survival. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  8. Pbx/Meis deficiencies demonstrate multigenetic origins of congenital heart disease.

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    Stankunas, Kryn; Shang, Ching; Twu, Karen Y; Kao, Shih-Chu; Jenkins, Nancy A; Copeland, Neal G; Sanyal, Mrinmoy; Selleri, Licia; Cleary, Michael L; Chang, Ching-Pin

    2008-09-26

    Congenital heart diseases are traditionally considered to be multifactorial in pathogenesis resulting from environmental and genetic interactions that determine penetrance and expressivity within a genetically predisposed family. Recent evidence suggests that genetic contributions have been significantly underestimated. However, single gene defects occur only in a minority of cases, and multigenetic causes of congenital heart diseases have not been fully demonstrated. Here, we show that interactions between alleles of 3 Pbx genes, which encode homeodomain transcription factors, are sufficient to determine the phenotypic presentation of congenital heart diseases in mice. A major role is served by Pbx1, whose inactivation results in persistent truncus arteriosus. Reduction or absence of Pbx2 or Pbx3 leads to Pbx1 haploinsufficiency and specific malformations that resemble tetralogy of Fallot, overriding aorta with ventricular septal defect, and bicuspid aortic valves. Disruption of Meis1, which encodes a Pbx DNA-binding partner, results in cardiac anomalies that resemble those caused by Pbx mutations. Each of the observed cardiac defects represents developmental abnormalities affecting distinct stages of cardiac outflow tract development and corresponds to specific types of human congenital heart disease. Thus, varied deficiencies in the Pbx gene family produce a full spectrum of cardiac defects involving the outflow tract, providing a framework for determining multigenetic causes of congenital heart anomalies.

  9. Prenatal diagnosis of aortopulmonary window associated with aberrant subclavian artery.

    Science.gov (United States)

    Louis-Jacques, Adetola F; Običan, Sarah G; Nguyen, Thieu; Odibo, Anthony

    2017-09-01

    Aortopulmonary window is a rare cardiac developmental anomaly characterised by a communication between the ascending aorta and the pulmonary artery. Aortopulmonary window may be isolated or associated with cardiac defects such as ventricular septal defect, atrial septal defect, interrupted aortic arch, and tetralogy of Fallot. We report a case of aortopulmonary window associated with aberrant subclavian artery based on fetal two-dimensional echocardiogram. The mother was referred for fetal echocardiography because of multiple fetal anomalies. Prenatal echocardiography at 30 weeks of gestation revealed a defect between the main and right pulmonary arteries and the ascending aorta (type III). The patient was born at 38 weeks of gestation via caesarean delivery, and was admitted to the neonatal intensive care unit because of respiratory failure and multiple congenital anomalies. Postnatal echocardiogram and cardiac MRI confirmed the prenatal findings. In addition, this patient had severe Dandy-Walker malformation and renal anomalies with poor prognosis. The family decided to withdraw respiratory care support on day of life 4, and the neonate passed away shortly after.

  10. Prevalence and characteristics of coronary artery anomalies in children with congenital heart disease diagnosed with coronary angiography.

    Science.gov (United States)

    Temel, Münevver Tuğba; Coşkun, Mehmet Enes; Başpınar, Osman; Demiryürek, Abdullah Tuncay

    2017-09-01

    Aim of the present study was to determine the prevalence of coronary artery anomalies in children with congenital heart disease. Data of 1138 consecutive patients who were referred for cardiac catheterization and angiography for assessment of coronary anomaly between January 2005 and December 2009 were retrospectively analyzed. Total of 515 patients whose coronary arteries could be examined through left ventricle and aortic root injection were included in the study. Of 515 angiograms with visible coronaries, 42 patients (20 males, 22 females; mean age: 5.3±2.0 years) were found to have final diagnosis of coronary anomaly. Prevalence of coronary artery anomalies was 8.16% in this study. It was determined that 38 (90.4%) were anomalies of origination, 2 (4.8%) were anomalies of intrinsic coronary arterial anatomy, and 2 (4.8%) were anomalies of coronary termination. Most common coronary artery abnormality was anomalous origin of the right coronary artery from the left aortic sinus (16 patients; 38.1%), and the most common congenital heart disease was tetralogy of Fallot (18 patients; 42.9%). Recognizing variability of coronary artery anomalies is critical when considering surgical or interventional therapies in children with congenital heart disease.

  11. The hereditary basis of bicuspid aortic valve disease: a role for screening?

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    Gharibeh L

    2014-12-01

    Full Text Available Lara Gharibeh, Mona Nemer Molecular Genetics and Cardiac Regeneration Laboratory, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada Abstract: Over the past years, human and molecular genetic studies have provided new understanding of valve development and the molecular pathogenesis of bicuspid aortic valve (BAV disease. BAV is an autosomal dominant disease with incomplete penetrance and is found to affect 1%–2% of the population. It can occur in isolation or coexists with other congenital heart diseases such as ventricular septal defect and tetralogy of fallot. BAV is a risk factor for premature cardiovascular disease and can lead to severe complications affecting the aorta and the valves. To date, NOTCH1 and GATA5 are the only genes linked to human BAV, and the genetic basis for most BAVs remains unidentified. Large-scale screening as well as whole exome sequencing studies hold promise for uncovering BAV-causing genes. Similarly, molecular analysis of valve development in animal models is needed for better insight of normal and pathologic valve formation. Together, these approaches will undoubtedly accelerate discovery of disease-causing genes opening the way for early diagnosis of BAV and prevention of valve degeneration and cardiovascular complications. Keywords: congenital heart disease, valvulogenesis, genetic screening

  12. Energy transfer ratio as a metric of right ventricular efficiency in repaired congenital heart disease.

    Science.gov (United States)

    Lee, Namheon; Das, Ashish; Taylor, Michael; Hor, Kan; Banerjee, Rupak K

    2013-01-01

    With the success of early repair, continued functional assessment of repaired congenital heart disease is critical for improved long-term outcome. Pulmonary regurgitation, which is one of the main postoperative sequelae of congenital heart disease involved with the right ventricle (RV) such as tetralogy of Fallot and transposition of the great arteries, results in progressive RV dilatation coupled with pulmonary artery (PA) obstruction causing elevated RV pressures. The appropriate timing of intervention to correct these postoperative lesions remains largely subjective. In the present study, we evaluated an energy-based end point, namely energy transfer ratio (eMPA ), to assess the degree of RV and PA inefficiency in a group of congenital heart disease patients with abnormal RV-PA physiology. Eight patients with abnormal RV-PA physiology and six controls with normal RV-PA physiology were investigated using a previously validated technique that couples cardiac magnetic resonance imaging and invasive pressure measurements. The mean eMPA of the patient group (0.56 ± 0.33) was significantly lower (P efficiency. It may serve as a diagnostic end point to optimize timing of intervention. © 2013 Wiley Periodicals, Inc.

  13. Association of consanguinity with congenital heart diseases in a teaching hospital in Western Iraq.

    Science.gov (United States)

    Al-Ani, Zaid R

    2010-09-01

    To study the association of consanguinity as a risk factor for congenital heart diseases (CHDs). Patients with suggestive signs of CHD admitted to the Al-Ramadi Maternity and Children Hospital, Al-Anbar Governorate, Iraq from January 2009 to January 2010 were subject to diagnostic investigations. Case data includes: name, age, gender, and cause of admission. Parents data includes: age, residence, degree of consanguinity, and history of family recurrent CHDs. Three controls to one case (3:1) were selected to compare their consanguinity with the CHD cases. Odds ratio was used for the measurement of consanguinity and other variable risks on CHD occurrence. The CHD cases were 86. Selected controls were 258 non-CHD cases. The most recorded subtypes were ventricular septal defect (VSD), atrial septal defect (ASD), and tetralogy of fallot (ToF). Consanguinity was found in 78% of cases and 43.3% in controls. First cousin consanguinity comprised 66.2% in cases and 35.6% in controls from all their marriages. Consanguinity was found a significant risk factor, more affecting the VSD and ASD than ToF subtypes, while parental age and infant gender were not found as risk factors. Consanguinity proved to be a risk factor for CHD. Further social education of the risks of consanguineous marriages in this tribal population is needed to reduce the prevalence of these morbid and mortal anomalies.

  14. An Unusual Cause of Cardiac Tamponade during Cardiac Catheterization Study

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    Deepanwita Das

    2014-01-01

    Full Text Available Introduction. Catheter-based diagnostic and therapeutic procedures are rapidly advancing. However, catheter related complications sometimes become life threatening. Cardiac tamponade is a rare but serious complication of this procedure. We have summarized one cardiac tamponade pejoration due to secondary coronary vessels laceration by the implanted pericardial drainage. Case report. A 4-year-old baby having Tetralogy of Fallot was posted for diagnostic catheterization study. Patient was induced with sevoflurane and spontaneous respiration was maintained. After catheter insertion to RV, dye was injected through the catheter which rapidly spread into the pericardial cavity indicating right ventricle perforation. Immediately, blood was aspirated under transthoracic echocardiographic guidance and hemodynamics started improving. For the provision of quick access to aspirate further collection, an intrapericardial sheath was inserted after multiple attempts. Patient’s condition started deteriorating again. TTE revealed again some collection and it was increasing gradually. On exploration, it was found that there was continuous bleeding from a lacerated epicardial vessel which contributed to the pericardial collection leading to further tamponade effect. This second iatrogenic injury complicated the management of the first iatrogenic cardiac perforation and, thereby, created a life-threatening situation which needed immediate surgical exploration. Discussion. Usual cause of tamponade after right ventricular perforation is bleeding from the RV, but in our case the second tamponade was not due to bleeding from the RV, but was rather from new laceration injury of epicardial vessels which was remained undiagnosed till exploration.

  15. Recommendations for cardiovascular magnetic resonance in adults with congenital heart disease from the respective working groups of the European Society of Cardiology

    Science.gov (United States)

    Kilner, Philip J.; Geva, Tal; Kaemmerer, Harald; Trindade, Pedro T.; Schwitter, Juerg; Webb, Gary D.

    2010-01-01

    This paper aims to provide information and explanations regarding the clinically relevant options, strengths, and limitations of cardiovascular magnetic resonance (CMR) in relation to adults with congenital heart disease (CHD). Cardiovascular magnetic resonance can provide assessments of anatomical connections, biventricular function, myocardial viability, measurements of flow, angiography, and more, without ionizing radiation. It should be regarded as a necessary facility in a centre specializing in the care of adults with CHD. Also, those using CMR to investigate acquired heart disease should be able to recognize and evaluate previously unsuspected CHD such as septal defects, anomalously connected pulmonary veins, or double-chambered right ventricle. To realize its full potential and to avoid pitfalls, however, CMR of CHD requires training and experience. Appropriate pathophysiological understanding is needed to evaluate cardiovascular function after surgery for tetralogy of Fallot, transposition of the great arteries, and after Fontan operations. For these and other complex CHD, CMR should be undertaken by specialists committed to long-term collaboration with the clinicians and surgeons managing the patients. We provide a table of CMR acquisition protocols in relation to CHD categories as a guide towards appropriate use of this uniquely versatile imaging modality. PMID:20067914

  16. The anomalous origin of the branch pulmonary artery from the ascending aorta.

    Science.gov (United States)

    Garg, Pankaj; Talwar, Sachin; Kothari, Shyam Sunder; Saxena, Anita; Juneja, Rajnish; Choudhary, Shiv Kumar; Airan, Balram

    2012-07-01

    The anomalous origin of one pulmonary artery branch from the aorta (AOPA) is rare. We report our single-institution surgical experience with this condition. Between January 1994 and February 2011, 17 patients (age: 1 month-25 years) with AOPA underwent surgery at our institute. Thirteen patients had an anomalous origin of the right pulmonary artery (RPA) while four had an anomalous origin of the left pulmonary artery (LPA) from the aorta. In patients with anomalous RPA, 11 patients had the proximal type and two patients had the distal type of AOPA. Four patients had associated Tetralogy of Fallot (TOF). In 14 patients, direct implantation into the main pulmonary artery was performed, while three patients required interpositon of a graft. There was one operative death due to persistent hypoxia in a 7-month old child with TOF and an anomalous LPA from the aorta. At a median follow-up of 36.5 months (range: 2-192 months), all 16 survivors were asymptomatic. On echocardiography, two patients showed a gradient of 25 and 30 mmHg across the anastomosis and are being followed up. In our experience, early repair of AOPA results in acceptable haemodynamic and anatomic results. Long-term survival can be expected with a low incidence of re-operation or re-intervention.

  17. Evaluation of maternal health and labor and delivery conditions as risk factors for childhood leukemias in children with Down syndrome.

    Science.gov (United States)

    Carozza, Susan E; Bae, Harold; Meath, Thomas; Branscum, Adam; Bovbjerg, Marit L; Langlois, Peter H

    2017-02-01

    Children with Down syndrome (DS) have a remarkably high risk of developing leukemia during childhood; the mechanisms driving that risk are not well understood, and no clear prevention strategies exist. We conducted a nested case-control study in a Texas DS birth cohort to investigate possible links between maternal health, labor/delivery conditions, and leukemia risk. For most of the factors studied there was no evidence of an increased risk of total leukemias, or the subtypes acute lymphoid or acute myeloid leukemia. Ultrasound use showed an almost 2-fold increased odds of leukemia, but this result is likely an example of confounding by indication. There was a pattern of increased risk seen for presence of co-occurring heart anomalies, including tetralogy of Fallot, ventricular septal defects, atrial septal defects, and patent ductus arteriosus. Further investigation of the links between co-occurring heart defects in children with DS and development of leukemia may provide new understanding of cancer mechanisms, and ultimately lead to prevention opportunities for this high-risk population. Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. Role of Computational Modelling in Planning and Executing Interventional Procedures for Congenital Heart Disease.

    Science.gov (United States)

    Slesnick, Timothy C

    2017-09-01

    Increasingly, computational modelling and numerical simulations are used to help plan complex surgical and interventional cardiovascular procedures in children and young adults with congenital heart disease. From its origins more than 30 years ago, surgical planning with analysis of flow hemodynamics and energy loss/efficiency has helped design and implement many modifications to existing techniques. On the basis of patient-specific medical imaging, surgical planning allows accurate model production that can then be manipulated in a virtual surgical environment, with the proposed solutions finally tested with advanced computational fluid dynamics to evaluate the results. Applications include a broad range of congenital heart disease, including patients with single-ventricle anatomy undergoing staged palliation, those with arch obstruction, with double outlet right ventricle, or with tetralogy of Fallot. In the present work, we focus on clinical applications of this exciting field. We describe the framework for these techniques, including brief descriptions of the engineering principles applied and the interaction between "benchtop" data with medical decision-making. We highlight some early insights learned from pioneers over the past few decades, including refinements in Fontan baffle geometries and configurations. Finally, we offer a glimpse into exciting advances that are presently being explored, including use of modelling for transcatheter interventions. In this era of personalized medicine, computational modelling and surgical planning allows patient-specific tailoring of interventions to optimize clinical outcomes. Copyright © 2017 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  19. Evaluation of ventricular dysfunction using semi-automatic longitudinal strain analysis of four-chamber cine MR imaging.

    Science.gov (United States)

    Kawakubo, Masateru; Nagao, Michinobu; Kumazawa, Seiji; Yamasaki, Yuzo; Chishaki, Akiko S; Nakamura, Yasuhiko; Honda, Hiroshi; Morishita, Junji

    2016-02-01

    The aim of this study was to evaluate ventricular dysfunction using the longitudinal strain analysis in 4-chamber (4CH) cine MR imaging, and to investigate the agreement between the semi-automatic and manual measurements in the analysis. Fifty-two consecutive patients with ischemic, or non-ischemic cardiomyopathy and repaired tetralogy of Fallot who underwent cardiac MR examination incorporating cine MR imaging were retrospectively enrolled. The LV and RV longitudinal strain values were obtained by semi-automatically and manually. Receiver operating characteristic (ROC) analysis was performed to determine the optimal cutoff of the minimum longitudinal strain value for the detection of patients with cardiac dysfunction. The correlations between manual and semi-automatic measurements for LV and RV walls were analyzed by Pearson coefficient analysis. ROC analysis demonstrated the optimal cut-off of the minimum longitudinal strain values (εL_min) for diagnoses the LV and RV dysfunction at a high accuracy (LV εL_min = -7.8 %: area under the curve, 0.89; sensitivity, 83 %; specificity, 91 %, RV εL_min = -15.7 %: area under the curve, 0.82; sensitivity, 92 %; specificity, 68 %). Excellent correlations between manual and semi-automatic measurements for LV and RV free wall were observed (LV, r = 0.97, p cine MR imaging can evaluate LV and RV dysfunction with simply and easy measurements. The strain analysis could have extensive application in cardiac imaging for various clinical cases.

  20. Coronary Arteries in Childhood Heart Disease: Implications for Management of Young Adults.

    Science.gov (United States)

    Baraona, Fernando; Valente, Anne Marie; Porayette, Prashob; Pluchinotta, Francesca Romana; Sanders, Stephen P

    2012-06-15

    Survival of patients with congenital heart defects has improved dramatically. Many will undergo interventional catheter or surgical procedures later in life. Others will develop atherosclerotic or post-surgical coronary heart disease. The coronary artery anatomy in patients with congenital heart disease differs substantially from that seen in the structurally normal heart. This has implications for diagnostic procedures as well as interventions. The unique epicardial course seen in some defects could impair interpretation of coronary angiograms. Interventional procedures, especially at the base of the heart, risk injuring unusually placed coronary arteries so that coronary artery anatomy must be delineated thoroughly prior to the procedure. In this review, we will describe the variants of coronary artery anatomy and their implications for interventional and surgical treatment and for sudden death during late follow-up in several types of congenital heart defects including: tetralogy of Fallot, truncus arteriosus, transposition of the great arteries, double outlet right ventricle, congenitally corrected transposition of the great arteries and defects with functionally one ventricle. We will also discuss the coronary abnormalities seen in Kawasaki disease.

  1. Current Surgical Outcomes of Congenital Heart Surgery for Patients With Down Syndrome in Japan.

    Science.gov (United States)

    Hoashi, Takaya; Hirahara, Norimichi; Murakami, Arata; Hirata, Yasutaka; Ichikawa, Hajime; Kobayashi, Junjiro; Takamoto, Shinichi

    2017-09-12

    Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear.Methods and Results:Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared. The 90-day and in-hospital mortality rates for all 5 major biventricular repair procedures and bidirectional Glenn were similarly low in patients with Down syndrome compared with patients without Down syndrome. On the other hand, mortality after Fontan operation in patients with Down syndrome was significantly higher than in patients without Down syndrome (42/1,558=2.7% vs. 3/25=12.0%, P=0.005). Although intensive management of pulmonary hypertension is essential, analysis of the JCCVSD revealed favorable early prognostic outcomes after 5 major biventricular procedures and bidirectional Glenn in patients with Down syndrome. Indication of the Fontan operation for patients with Down syndrome should be carefully decided.

  2. Experimental assessment of valve performance in healthy and diseased right ventricular outflow tracts using magnetic resonance velocimetry

    Science.gov (United States)

    Schiavone, Nicole; Elkins, Christopher; McElhinney, Doff; Eaton, John K.; Marsden, Alison

    2017-11-01

    Tetralogy of Fallot (ToF), the most common type of cyanotic congenital heart defect, affects 1 in every 2500 newborns annually and typically requires surgical repair of the right ventricular outflow tract (RVOT) and placement of an artificial pulmonary valve. All artificial valves are subject to dysfunction, but their longevity is highly variable. Clinical observation reveals large variations in RVOT anatomy in ToF patients, which may affect longevity. This work aims to experimentally assess the performance of artificial pulmonary valves in anatomically realistic healthy and diseased RVOT geometries using magnetic resonance velocimetry (MRV). With MRV, we can capture 3D, three-component, phase-averaged velocity fields in 3D printed RVOT geometries. The experiment is designed to ensure physiological flow rate and pressure waveforms, while the RVOT geometries are based on anatomies seen clinically in ToF patients. Two models are used in the current work: an idealized RVOT based on healthy subjects aged eleven to thirteen and a diseased geometry with a dilation of 150% in vessel diameter downstream of the pulmonary valve. We will also present preliminary rigid-wall blood flow simulations in each model, towards the ultimate goal of experimental validation of valve simulations.

  3. Pdgfrα functions in endothelial-derived cells to regulate neural crest cells and the development of the great arteries.

    Science.gov (United States)

    Aghajanian, Haig; Cho, Young Kuk; Rizer, Nicholas W; Wang, Qiaohong; Li, Li; Degenhardt, Karl; Jain, Rajan

    2017-09-01

    Originating as a single vessel emerging from the embryonic heart, the truncus arteriosus must septate and remodel into the aorta and pulmonary artery to support postnatal life. Defective remodeling or septation leads to abnormalities collectively known as conotruncal defects, which are associated with significant mortality and morbidity. Multiple populations of cells must interact to coordinate outflow tract remodeling, and the cardiac neural crest has emerged as particularly important during this process. Abnormalities in the cardiac neural crest have been implicated in the pathogenesis of multiple conotruncal defects, including persistent truncus arteriosus, double outlet right ventricle and tetralogy of Fallot. However, the role of the neural crest in the pathogenesis of another conotruncal abnormality, transposition of the great arteries, is less well understood. In this report, we demonstrate an unexpected role of Pdgfra in endothelial cells and their derivatives during outflow tract development. Loss of Pdgfra in endothelium and endothelial-derived cells results in double outlet right ventricle and transposition of the great arteries. Our data suggest that loss of Pdgfra in endothelial-derived mesenchyme in the outflow tract endocardial cushions leads to a secondary defect in neural crest migration during development. © 2017. Published by The Company of Biologists Ltd.

  4. Transcatheter stenting of the right ventricular outflow tract augments pulmonary arterial growth in symptomatic infants with right ventricular outflow tract obstruction and hypercyanotic spells.

    Science.gov (United States)

    McGovern, Eimear; Morgan, Conall T; Oslizlok, Paul; Kenny, Damien; Walsh, Kevin P; McMahon, Colin J

    2016-10-01

    We retrospectively reviewed all the children with right ventricular outflow tract obstruction, hypoplastic pulmonary annulus, and pulmonary arteries who underwent stenting of the right ventricular outflow tract for hypercyanotic spells at our institution between January, 2008 and December, 2013; nine patients who underwent cardiac catheterisation at a median age of 39 days (range 12-60 days) and weight of 3.6 kg (range 2.6-4.3 kg) were identified. The median number of stents placed was one stent (range 1-4). The median oxygen saturation increased from 60% to 96%. The median right pulmonary artery size increased from 3.3 to 5.5 mm (-2.68 to -0.92 Z-score), and the median left pulmonary artery size increased from 3.4 to 5.5 mm (-1.93 to 0 Z-scores). Among all, one patient developed transient pulmonary haemorrhage, and one patient had pericardial tamponade requiring drainage. Complete repair of tetralogy of Fallot +/- atrioventricular septal defect or double-outlet right ventricle was achieved in all nine patients. Transcatheter stent alleviation of the right ventricular outflow tract obstruction resolves hypercyanotic spells and allows reasonable growth of the pulmonary arteries to facilitate successful surgical repair. This represents a viable alternative to placement of a systemic-to-pulmonary artery shunt, particularly in small neonates.

  5. Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridization.

    Directory of Open Access Journals (Sweden)

    Xiaohui Gong

    Full Text Available OBJECTIVE: The current study aimed to develop a reliable targeted array comparative genomic hybridization (aCGH to detect microdeletions and microduplications in congenital conotruncal defects (CTDs, especially on 22q11.2 region, and for some other chromosomal aberrations, such as 5p15-5p, 7q11.23 and 4p16.3. METHODS: Twenty-seven patients with CTDs, including 12 pulmonary atresia (PA, 10 double-outlet right ventricle (DORV, 3 transposition of great arteries (TGA, 1 tetralogy of Fallot (TOF and one ventricular septal defect (VSD, were enrolled in this study and screened for pathogenic copy number variations (CNVs, using Agilent 8 x 15K targeted aCGH. Real-time quantitative polymerase chain reaction (qPCR was performed to test the molecular results of targeted aCGH. RESULTS: Four of 27 patients (14.8% had 22q11.2 CNVs, 1 microdeletion and 3 microduplications. qPCR test confirmed the microdeletion and microduplication detected by the targeted aCGH. CONCLUSION: Chromosomal abnormalities were a well-known cause of multiple congenital anomalies (MCA. This aCGH using arrays with high-density coverage in the targeted regions can detect genomic imbalances including 22q11.2 and other 10 kinds CNVs effectively and quickly. This approach has the potential to be applied to detect aneuploidy and common microdeletion/microduplication syndromes on a single microarray.

  6. A child presenting with acute renal failure secondary to a high dose of indomethacin: a case report

    Directory of Open Access Journals (Sweden)

    González Felipe

    2009-02-01

    Full Text Available Abstract Introduction Acute renal failure caused by nonsteroidal anti-inflammatory drugs administered at therapeutic doses is generally mild, non-anuric and transitory. There are no publications on indomethacin toxicity secondary to high doses in children. The aim of this article is to describe acute renal failure secondary to a high dose of indomethacin in a child and to review an error in a supervised drug prescription and administration system. Case presentation Due to a medication error, a 20-day-old infant in the postoperative period of surgery for Fallot's tetralogy received a dose of 10 mg/kg of indomethacin, 50 to 100 times higher than the therapeutic dose. The child presented with acute, oligo-anuric renal failure requiring treatment with continuous venovenous renal replacement therapy, achieving complete recovery of renal function with no sequelae. Conclusion In order to reduce medication errors in critically ill children, it is necessary to develop a supervised drug prescription and administration system, with controls at various levels.

  7. Multiplex Ligation-Dependent Probe Amplification Analysis of GATA4 Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Valentina Guida

    2010-01-01

    Full Text Available GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs, mostly cardiac septal defects and tetralogy of Fallot. In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. Thus far, no study has been carried out to investigate the role of GATA4 copy number variations (CNVs in non-syndromic CHDs. To explore the possible occurrence of GATA4 gene CNVs in isolated CHDs, we analyzed by multiplex ligation-dependent probe amplification (MLPA a cohort of 161 non-syndromic patients with cardiac anomalies previously associated with GATA4 gene mutations. The patients were mutation-negative for GATA4, NKX2.5, and FOG2 genes after screening with denaturing high performance liquid chromatography. MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution of GATA4 gene CNVs in CHD pathogenesis.

  8. Patterns of Transition Experience for Parents Going Home from Hospital with their Infant after First Stage Surgery for Complex Congenital Heart Disease.

    Science.gov (United States)

    Gaskin, Kerry L

    2017-12-04

    The purpose of this study was to explore parents' experiences of one specific timepoint in their infant's journey: the transition from hospital to home, following the first stage of their infant's cardiac surgery for complex congenital heart disease. A prospective longitudinal mixed methods study, underpinned with Middle Range Transition Theory (Meleis, Sawyer, Im, Hilfinger Messias, & Schumacher, 2000). Face to face and telephone interviews were conducted and self-report forms completed by parents at four-time points: before discharge (T0), 2weeks after discharge (T1), 8weeks after discharge (T2) and after stage two surgery (T3). Interviews were transcribed verbatim before inductive thematic analysis. Parents were recruited over a 15-month period from 2013 to 2015. Twelve mothers and 4 fathers took part. The infants had functionally univentricular heart (left n=10, right n=1) and a systemic shunt dependent lesion, tetralogy of Fallot (n=1). Dynamic constructivist and constructionist social processes occurred for all parents, involving physical, physiological, psychological and cognitive elements within four 'patterns of experience', two of which 'safety and security' and 'love and support' are presented in this paper. Parental support is essential; parents need to be engaged in discharge planning process and given the opportunity to express their needs to ensure that discharge care is truly patient and family centered. Transition from hospital to home was complex and multi-faceted, with unanticipated physical and emotional transitions superimposed upon those that were expected. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Vancomycin heteroresistant community associated methicillin-resistant Staphylococcus aureus ST72-SCCmecIVa strain colonizing the nostrils of a five-year-old Spanish girl.

    Science.gov (United States)

    Varona-Barquín, Aketza; Iglesias-Losada, Juan José; Ezpeleta, Guillermo; Eraso, Elena; Quindós, Guillermo

    2017-03-01

    During a community methicillin-resistant Staphylococcus aureus (MRSA) nasal colonization study, an MRSA strain with vancomycin hetero-resistance (h-VISA) was isolated from a five year-old girl with tetralogy of Fallot without previous exposure to vancomycin. An extended nasal colonization study was performed on all her close relatives. Only the patient and her sister were colonized by an h-VISA MRSA strain (clone USA 700, ST72, t148, agr 1 and SCCmec IVa). Mupirocin decolonisation was effective in the elder sister. A new nasal decolonisation in the younger girl using fusidic acid was also successful. However, after decolonisation both sisters were colonized by a methicillin-susceptible S. aureus (ST30, t012 and agr 3) previously isolated from their mother's nostrils. As S. aureus have a great capacity to spread among people in close contact, knowledge of a patients' colonization status, tracing contacts, and a correct management are critical issues for the successful containment of multiresistant staphylococci. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

  10. Tetralogia de Fallot e sua repercussão na saúde bucal

    OpenAIRE

    Assunção, Cristiane Meira; Falleiros, Tatiana; Gugisch, Renato Cordeiro; Fraiz, Fabian Calixto; Losso,Estela Maris

    2008-01-01

    OBJETIVO: Relatar o caso de um paciente com tetralogia de Fallot e sua condição bucal. DESCRIÇÃO DO CASO: Paciente do gênero masculino atendido no Curso de Especialização em Odontopediatria da Escola de Aperfeiçoamento Profissional da Associação Brasileira de Odontologia da seção Paraná dos cinco aos sete anos de idade. O exame clínico intrabucal inicial revelou quadro de cárie severa da infância. Durante o acompanhamento, verificou-se a erupção dos primeiros molares permanentes com a presenç...

  11. Long-term outcome after surgery for congenital heart disease in infancy and childhood

    NARCIS (Netherlands)

    F.J. Meijboom (Folkert)

    1995-01-01

    textabstractBefore the era of cardiac surgery about half of the patients born with a congenital heart defect died within the first year of life. Survival until adulthood was very rare for patients with transposition of the great arteries (20 years survival <1 %), rare with tetralogy of Fallot (20

  12. Anaesthesia for oesophageal atresia with or without tracheo ...

    African Journals Online (AJOL)

    These patients often present with a multitude of other congenital anomalies that may have a bearing on the oxygen cascade. With improvements in ... oesophageal stenosis, gastro-oesophageal fistula and recurrent fistulae. Epidemiology ... of an association with congenital heart disease, specifically. Tetralogy of Fallot ...

  13. Retroaortic left innominate vein - Incidence, association with congenital heart defects, embryology, and clinical significance

    Directory of Open Access Journals (Sweden)

    Kulkarni Snehal

    2008-01-01

    Full Text Available In a retrospective analysis of echocardiograms, the incidence of retroaortic innominate vein was found to be 0.55% amongst children with congenital heart disease. It was most commonly associated with tetralogy of Fallot and right aortic arch.

  14. Download this PDF file

    African Journals Online (AJOL)

    It can be a preventable cause of fatal illness if diagnosed ... genital heart diseases such as Tetralogy of Fallot and con- genital blood vessel abnormalities of the lung like Osler-We- ber-Rendu diseases. In developing countries, cerebral ab- scess is not a rare .... sources, though dental and oral infections (cavernous sinus.

  15. Cornelia-de Lange syndrome in an Egyptian infant with unusual ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2012-05-18

    May 18, 2012 ... Rickets;. Arachnodactly. Abstract We report a 4 month old female infant with the typical features of Cornelia-de Lange syndrome. What was striking in our .... children with CdLS. Most common are ventricular septal de- fects, pulmonary stenosis, and tetralogy of Fallot [10]. ECHO cardiography detected mild ...

  16. The floating harbor syndrome with cardiac septal defect.

    Science.gov (United States)

    Lazebnik, N; McPherson, E; Rittmeyer, L J; Mulvihill, J J

    1996-12-18

    The Floating Harbor syndrome of short stature, very delayed bone age, expressive language delay, and characteristic facial changes has not been associated with cardiac anomalies, except for one patient with pulmonic stenosis. We report on a 10-year-old boy with the syndrome and tetralogy of Fallot with atrial septal defect.

  17. Anesthetic dilemma in planning bilateral cataract surgery for an infant associated with congenital cardiac anomaly

    Directory of Open Access Journals (Sweden)

    Devalina Goswami

    2015-01-01

    Full Text Available In a patient with tetralogy of Fallot (TOF and pulmonary atresia, treating the cardiac problem or the associated congenital illness is always a challenge. We describe the challenges and successful initial management of bilateral cataract to prevent visual loss in an infant with TOF with pulmonary atresia.

  18. 175. Recambio tardío de la válvula pulmonar después de la reparación de la tetralogía de fallot

    Directory of Open Access Journals (Sweden)

    S. Congiu

    2010-01-01

    El recambio tardío de la válvula pulmonar mejora significativamente la funcionalidad del ventrículo derecho, la clase funcional, las arritmias. Sucesivos recambios son necesarios para mantener una buena funcionalidad. El riesgo para un rerrecambio precoz es la edad inicial precoz del recambio valvular.

  19. Fallot Pentalojisi’nin eşlik ettiği Dandy-Walker varyasyonu: Olgu sunumu

    OpenAIRE

    Güven, Ahmet; Oflaz, Mehmet; Kaya, Ali; Bolat, Fatih; Gülsever, Osman; Şalk, İsmail; Bozoklu Akkar, Özlem; İçağasıoğlu, Füsun

    2014-01-01

    ÖzetDandy-Walker varyasyonu, 4. ventrikül ve sisterna magna arasındaki devamlılıkla sonuçlanan vermisin parsiyel agenezisi ile karakterize santral sinir sisteminin nadir bir anomalisidir. Literatürde ilk kez 1988’de Kohyama ve arkadaşları tarafından bildirilen Dandy-Walker varyasyonu ve Fallot Tetralojisi birlikteliği daha sonraki yıllarda birkaç vaka sunumu şeklinde bildirilmiştir. Biz bu yazıda, Dandy-Walker varyasyonu ve Fallot Pentalojisi olan 2 günlük bir erkek hastayı bildiriyoruz.Anaht...

  20. Outcome of children with Pentalogy of Cantrell following cardiac surgery.

    LENUS (Irish Health Repository)

    O'Gorman, Clodagh S

    2012-02-01

    Although single individual reports have documented outcomes in children with pentalogy of are few data available for postoperative outcome of this cohort of patients after cardiac surgery. The aim of this study was to retrospectively review the clinical details of patients with pentalogy of Cantrell managed at two centers. Two cardiac surgical institutions retrospectively studied all patients with pentalogy of Cantrell and significant congenital heart disease who underwent surgical intervention, excluding PDA ligation, between 1992 and 2004. Seven children with pentalogy of Cantrell underwent surgical intervention at a median age of 60 days (range, 1-11 months). Three patients had tetralogy of Fallot, two double outlet right ventricle, one patient had tricuspid atresia, and one patient a perimembranous ventricular septal defect. The mean duration of postoperative ventilation was 112.8 days (range, 4-335 days) but three patients required ventilation for more than 100 days. Patients who had a preoperative diaphragmatic plication required a longer duration of ventilation (mean = 186.5 days [range, 100-273 days] compared with mean = 132 days [range, 4-335 days]). Four patients survived, with three patients weaned from ventilation. Three patients had withdrawal of care following failure to wean from ventilation, following multisystem organ failure, and at the request of their parents. In conclusion, the postoperative care of children with pentalogy of Cantrell after cardiac surgery is often complicated by prolonged need for ventilatory support and multiple postoperative complications. Earlier surgical intervention does not necessarily reduce morbidity and mortality. These data may help in the counseling of parents prior to surgical intervention.

  1. Epidemiology of Congenital Heart Disease in India.

    Science.gov (United States)

    Bhardwaj, Ritu; Rai, Sunil Kumar; Yadav, Abhishek Kumar; Lakhotia, Siddharth; Agrawal, Damyanti; Kumar, Ashok; Mohapatra, Bhagyalaxmi

    2015-01-01

    Congenital heart defects (CHDs) affect a large number of newborns and account for a high proportion of infant mortality worldwide. There are regional differences in the prevalence and distribution pattern of CHDs. The aim of this study is to estimate the distribution pattern and prevalence of CHDs among the population of north-central India and to compare the results with studies in other regions of the country to get an overview of prevalence of CHDs in India. We carried out a prospective study in the outpatient department of a tertiary care referral center in north-central India. This study was carried out from January 2011 to April 2014, with 34 517 individuals being recruited for the study. All patients were examined by chest x-ray, electrocardiogram, and 2D echocardiography. Prevalence rate per 1000 individuals examined was calculated. Relative frequencies of individual CHD types as a proportion of total CHDs were also calculated. Out of 34 517 individuals examined, 661 were diagnosed with CHDs, giving a prevalence of 19.14 per 1000 individuals. The most common defect was ventricular septal defect (33%), followed by atrial septal defect (19%) and tetralogy of Fallot (16%). The majority of CHD cases (58%) diagnosed were between 0 and 5 years of age. The prevalence of CHDs in adults was 2.4 per 1000 individuals in this cohort, with atrial septal defect (44.5%) being the most frequent defect. The prevalence of CHDs in our cohort was high, possibly because of the power of the diagnostic methods we used and the inclusion of all age groups. Adults with CHDs may significantly contribute to the prevalence of CHDs in the next generation, and this needs to be considered when estimating prevalence rates. Although several small regional studies have been carried out in India, there is an urgent need to establish a nationwide registry/database for congenital heart defects. © 2014 Wiley Periodicals, Inc.

  2. Epidemiology of congenital heart disease in Brazil

    Directory of Open Access Journals (Sweden)

    Valdester Cavalcante Pinto Júnior

    2015-04-01

    Full Text Available AbstractIntroduction:Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007.Objective:To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes.Methods:The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables.Results:The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498; atrial septal defect (4,693; persistent ductus arteriosus (2,490; pulmonary stenosis (1,431; tetralogy of Fallot (973; coarctation of the aorta (973; transposition of the great arteries (887; and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults.Conclusion:In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration.

  3. Epidemiology of congenital heart disease in Brazil.

    Science.gov (United States)

    Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; Freitas, Sílvia Maria de; Fraga, Maria Nazaré de Oliveira; Souza, Nayana Maria Gomes de

    2015-01-01

    Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration.

  4. The epidemiological aspects of congenital heart disease in central and southern district of Iran

    Directory of Open Access Journals (Sweden)

    Sara Amel-Shahbaz

    2014-01-01

    Full Text Available Background: Congenital heart disease (CHD is a major health problem and its prevalence is different around the world. The aim of study was determination of the epidemiological aspects of CHD in central and southern district of Iran. Materials and Methods: In this descriptive and analytical study, 3714 medical records were evaluated from March 21, 2001 to December 18, 2011. Medical records of inpatients from angiography and outpatients in the Heart Clinic of Afshar hospital (a referral hospital in center and south of Iran were the source of information. Types of CHD and demographic data including age, sex and residential location are collected. The data were analyzed by SPSS (version 17 software. Chi-square and Fisher′s exact tests were used to compare variables between groups. Results: At the study, the mean age of the patients at diagnosis time was 8.8 ± 11.6 year (at the range of one day to 76 years with median of 4 years. The percentage of females and males was 54.2 (n: 2014 and 43.8 (n: 1627, respectively. The chi-square test showed that there was significant difference in frequency of CHDs between females and males (P value < 0.0001. Ventricular septal defect (VSD was found to be the most frequent of CHDs (27%. Patent ductus arteriosus (PDA (16.8%, atrial septal defect (ASD (15.8%, pulmonary stenosis (PS (11% and Tetralogy of Fallot (TOF (8.9% were more prevalent in CHDs after VSD. Conclusions: The frequency of CHDs in female was more than male and VSD, PDA, ASD, PS, and TOF were most common in CHDs, respectively.

  5. Prevalence of Congenital Heart Disease in Xinjiang Multi-Ethnic Region of China.

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    Fen Liu

    Full Text Available The prevalence and risk factors of congenital heart disease among Xinjiang, northwestern part of China is currently unknown.This multiple-ethnic, community-based, cross-sectional study was conducted to estimate the prevalence and distribution of congenital heart disease (CHD in Xinjiang, northwestern part of China. Four major ethnics, Uygur, Han, Kazak, and Hui children in this region were investigated during February 2010 and May 2012.A total of 14,530 children (0-18 yr were examined. Of these children, 240 (boys, 43.8%, and girls, 56.3% were identified with CHD, giving an overall prevalence of 16.5‰ (17.7‰ in Uygur, 6.9‰ in Han, 11.4‰ in Kazak, and 38.1‰ in Hui Chinese, respectively. Ventricular septal defect (VSD, 29.2%, atrial septal defect (ASD, 20.8%, patent ductus arteriosus (PDA, 13.7%, acleistocardia (13.7%, Bicuspid aortic valve (7.9%, pulmonary valve stenosis (5.4%, and tetralogy of fallot (TOF, 4.2% were common cyanotic and cyanotic defects observed. Compared to non-CHD children, children with CHD had a higher percentage of history of abortion, CHD history of family, consanguinity and premature birth (all P<0.05. In CHD children, 24% of mothers caught a cold, 10% had a febrile illness and 6.7% received antibiotic treatment during the first trimester of pregnancy, that were higher than non-CHD group (all P<0.05.The overall prevalence of CHD in four ethnic children at ages 0-18 yr in Xinjiang was 16.5‰. VSD, ASD and TOF were the most common acyanotic and cyanotic congenital heart defects, respectively. This study also identified some modifiable risk factors that may contribute to the incidence of CHD among the 4 ethnic groups.

  6. Prevalence of Congenital Heart Disease in Xinjiang Multi-Ethnic Region of China.

    Science.gov (United States)

    Liu, Fen; Yang, Yi-Ning; Xie, Xiang; Li, Xiao-Mei; Ma, Xiang; Fu, Zhen-Yan; Chen, Bang-Dang; Huang, Ying; Shan, Chun-Fang; Ma, Yi-Tong; Gao, Xiao-Ming

    2015-01-01

    The prevalence and risk factors of congenital heart disease among Xinjiang, northwestern part of China is currently unknown. This multiple-ethnic, community-based, cross-sectional study was conducted to estimate the prevalence and distribution of congenital heart disease (CHD) in Xinjiang, northwestern part of China. Four major ethnics, Uygur, Han, Kazak, and Hui children in this region were investigated during February 2010 and May 2012. A total of 14,530 children (0-18 yr) were examined. Of these children, 240 (boys, 43.8%, and girls, 56.3%) were identified with CHD, giving an overall prevalence of 16.5‰ (17.7‰ in Uygur, 6.9‰ in Han, 11.4‰ in Kazak, and 38.1‰ in Hui Chinese, respectively). Ventricular septal defect (VSD, 29.2%), atrial septal defect (ASD, 20.8%), patent ductus arteriosus (PDA, 13.7%), acleistocardia (13.7%), Bicuspid aortic valve (7.9%), pulmonary valve stenosis (5.4%), and tetralogy of fallot (TOF, 4.2%) were common cyanotic and cyanotic defects observed. Compared to non-CHD children, children with CHD had a higher percentage of history of abortion, CHD history of family, consanguinity and premature birth (all Pchildren, 24% of mothers caught a cold, 10% had a febrile illness and 6.7% received antibiotic treatment during the first trimester of pregnancy, that were higher than non-CHD group (all Pchildren at ages 0-18 yr in Xinjiang was 16.5‰. VSD, ASD and TOF were the most common acyanotic and cyanotic congenital heart defects, respectively. This study also identified some modifiable risk factors that may contribute to the incidence of CHD among the 4 ethnic groups.

  7. Primary biventricular repair of atrioventricular septal defects: an analysis of reoperations.

    Science.gov (United States)

    Vohra, Hunaid A; Chia, Alicia X F; Yuen, Ho Ming; Vettukattil, Joseph J; Veldtman, Gruschen; Gnanapragasam, James; Roman, Kevin; Salmon, Anthony P; Haw, Marcus P

    2010-09-01

    The purpose of this study was to analyze the factors affecting reoperation after primary biventricular atrioventricular septal defect (AVSD) repair. Between April 1997 and April 2007, 93 consecutive patients underwent surgery for biventricular correction of AVSD with a median age of 5.8 months (range, 9 days to 68.9 years). Fifty-three patients had complete AVSD, 6 patients had an intermediate type, and 29 patients had partial AVSD; 4 patients had a complete AVSD with associated tetralogy of Fallot, and 1 patient had a complete AVSD with double-outlet right ventricle. There was no in-hospital mortality. There were 2 late deaths (2.2%). Forty-three reoperations were performed in 23 patients (24.7%), of which 18 were for repair of significant left atrioventricular valve regurgitation and 8 were mitral valve replacements. Seven patients (7.5%) required insertion of a permanent pacemaker. The overall 5-year freedom from reoperation after AVSD repair was 73.6% +/- 4.8%. In the multivariate analysis for complete AVSDs, Down syndrome (p = 0.01) and the presence of right ventricular dominance (p = 0.03) were independent predictors of reoperation. At last follow-up, 76 patients (83.5%) were in New York Heart Association class I, and 68 patients (74.7%) were not taking any heart failure medications. Echocardiographic examination showed absent to mild left atrioventricular valve regurgitation in 76.5%; moderate, in 19.8%; and severe, in 3.7% of patients. Down syndrome and right ventricular dominance are independent predictors of reoperation after complete AVSD repair. Biventricular repair of isolated AVSD with a small left ventricle can be successfully accomplished with no mortality. 2010 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  8. National database study of survival of pediatric congenital heart disease patients in Taiwan.

    Science.gov (United States)

    Yeh, Shu-Jen; Chen, Hui-Chi; Lu, Chun-Wei; Wang, Jou-Kou; Huang, Li-Min; Huang, Shin-Chung; Huang, San-Kuei; Wu, Mei-Hwan

    2015-02-01

    The incidence of congenital heart disease (CHD) and severe CHD is 13.08 and 1.51/1000 live births, respectively, in Taiwan, which has had national health insurance since 1995 and child health indices similar to those in the US. This study sought to further elucidate the fatality of CHD patients and their survival from a national database. From the national health insurance database 2000-2010, we retrieved data from CHD patients who were diagnosed at age pediatric CHD patients were identified. The overall prevalence of CHD was 1288 per 100 000 live-births. Severe CHD (tetralogy of Fallot (4.4%), transposition of the great arteries (1.6%) and double outlet right ventricle (1.1%)) accounted for 11.5% of all cases. The 1-month/5-year survival in simple and severe CHD was 99.1%/97.5% and 90.2%/76.4%, respectively (p heart syndrome (19.7%), followed by transposition of the great arteries (66.7%), double outlet right ventricle (69.0%), and common ventricle (66.0%). The 5-year survival of the birth cohort in the same study period was 99.3%. This national database study revealed that the survival of children with simple CHD was still slightly lower than that of the general population and the survival of severe CHD patients, though only accounting for one-tenth of CHD cases, remained unsatisfactory. Such survival profiles are similar to those from Western reports and warrant a refined and dedicated medical care program for children with CHD. Copyright © 2012. Published by Elsevier B.V.

  9. [Early rehabilitation and cardiorespiratory response in children after correction of congenital heart defects].

    Science.gov (United States)

    Petronić, Ivana; Milincić, Zeljka; Nikolić, Dejan; Cirović, Dragana; Ilić, Slobodan; Parezanović, Vojislav; Radlović, Vladimir; Knezević, Tatjana; Pavićević, Polina

    2008-01-01

    Significant improvement in survival and quality of life in patients after the correction of congenital heart defects was enabled by the introduction of surgical procedures. Due to increased vulnerability in the period after defect correction, early rehabilitation have found its place in recovery. Various studies suggest good effects of a rehabilitation programme especially in the early rehabilitation period. In our study we wanted to stress the importance of early rehabilitation as well as its effects of implementation. We evaluated the children treated at the University Children's Hospital during a four-year period. All participants were divided into two groups according to age: the first group included children up to the age of one year, and the second group included those from the first till the third year of life. Patients were divided into two groups according to the presence of complications. We monitored children with 4 types of congenital heart defects: Tetralogy of Fallot, Transposition of the Great Arteries, Coarctation of the Aorta and Stenosis of the Aorta. All exercises were implemented twice daily. Out of the pulmonary system parameters we monitored saturation of oxygen during the entire programme. Other parameters that were evaluated were: heart rate, ECG and breathing frequency. In the children with corrected defects, the most frequent complication was athelectasis especially in the group of patients till the first year of life. The patients with the onset of complications had a longer rehabilitation programme. Saturation of oxygen at the end of the programme was significantly elevated. From the above-mentioned it can be concluded that individual rehabilitation assessment for every patient is needed. Early rehabilitation measures give sustained effects of well-being after completion of the programme.

  10. Early rehabilitation and cardiorespiratory response in children after correction of congenital heart defects

    Directory of Open Access Journals (Sweden)

    Petronić Ivana

    2008-01-01

    Full Text Available INTRODUCTION Significant improvement in survival and quality of life in patients after the correction of congenital heart defects was enabled by the introduction of surgical procedures. Due to increased vulnerability in the period after defect correction, early rehabilitation have found its place in recovery. Various studies suggest good effects of a rehabilitation programme especially in the early rehabilitation period. OBJECTIVE In our study we wanted to stress the importance of early rehabilitation as well as its effects of implementation. METHOD We evaluated the children treated at the University Children's Hospital during a four-year period. All participants were divided into two groups according to age: the first group included children up to the age of one year, and the second group included those from the first till the third year of life. Patients were divided into two groups according to the presence of complications. We monitored children with 4 types of congenital heart defects: Tetralogy of Fallot, Transposition of the Great Arteries, Coarctation of the Aorta and Stenosis of the Aorta. All exercises were implemented twice daily. Out of the pulmonary system parameters we monitored saturation of oxygen during the entire programme. Other parameters that were evaluated were: heart rate, ECG and breathing frequency. RESULTS In the children with corrected defects, the most frequent complication was athelectasis especially in the group of patients till the first year of life. The patients with the onset of complications had a longer rehabilitation programme. Saturation of oxygen at the end of the programme was significantly elevated. CONCLUSION From the above-mentioned it can be concluded that individual rehabilitation assessment for every patient is needed. Early rehabilitation measures give sustained effects of well-being after completion of the programme.

  11. Risk and protective factors in the origin of conotruncal defects of heart--a population-based case-control study.

    Science.gov (United States)

    Csáky-Szunyogh, Melinda; Vereczkey, Attila; Kósa, Zsolt; Gerencsér, Balázs; Czeizel, Andrew E

    2013-10-01

    Congenital heart defect (CHD) cases have been evaluated together as a group in some previous epidemiological studies. However, different CHD entities have different etiologies, and the underlying causes are unclear in the vast majority of patients. Thus the aim of this study was to analyze the possible association of different maternal diseases with the risk of four types of conotruncal defects (CTD), that is, truncus arteriosus, d-transposition of the great arteries, tetralogy of Fallot, and double-outlet right ventricle based on autopsy or surgical report diagnosis. Acute and chronic diseases with related drug treatments and peri-conceptual folic acid or multivitamin supplementations were compared in mothers of 598 CTD cases, of 902 matched controls, and 38,151 population controls without any defects, and with 20,896 malformed controls with other isolated non-cardiac defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. Mothers who had medically recorded influenza and the common cold with secondary complications in the prenatal maternity logbook during the second and/or third gestational months were associated with a higher risk of CTD (OR with 95% CI: 2.22, 1.19-3.88). The common denominator of these maternal diseases may be high fever, which could be prevented by antifever therapies. On the other hand, high doses of medically recorded folic acid in early pregnancy were able to reduce the birth prevalence of CTD (OR with 95% CI: 0.54, 0.39-0.73), and this reduction was significant in transposition of the great arteries (0.46, 0.29-0.71) as well. In conclusion, high fever related maternal diseases may have a role in the origin of CTD, while high doses of folic acid in early pregnancy were able to reduce of CTD, particularly transposition of great vessels. Copyright © 2013 Wiley Periodicals, Inc.

  12. [Course of congenital malformation incidences and their changes over time in children born in the Czech Republic].

    Science.gov (United States)

    Sípek, A; Gregor, V; Horáček, J; Sípek, A; Langhammer, P

    2012-10-01

    An analysis of incidences of selected birth defects in the Czech Republic in 2000 - 2008 period. Retrospective epidemiological analysis of birth defects incidences in births and total birth defects incidences (including prenatally diagnosed cases) from the Czech National Birth Defects Register database. Data from the National Birth Defects Register (Institute for Health Information and Statistics) in the Czech Republic in the 2000 - 2008 period were used along with data on prenatally diagnosed defects from particular departments of medical genetics. Sixteen selected defects (anencephaly, spina bifida, encephalocele, congenital hydrocephalus, coarctation of aorta, transposition of great vessels, hypoplastic left heart syndrome, Fallot tetralogy, omphalocele, gastroschisis, diaphragmatic hernia, oesophageal atresia and stenosis, anorectal malformations, Down syndrome, Edwards syndrome and Patau syndrome) were analyzed in detail. There were 119 570 live births (61 326 boys and 58 244 girls) in 2008. In the same period, 4664 live births with a birth defect (under the age of one year) were reported, out of which 2754 boys and 1910 girls. Mean incidence was 390.06 (449.08 in boys and 327.93 in girls) per 10 000 live births. In 1994 - 2006, totally 1 238 398 children were born, out of which more than 42 000 with a birth defect. In the 2000 - 2006 period, absolute numbers of diagnosed live births with birth defect varied between 3600 - 3800 cases per year while in 2007 and 2008 years absolute numbers raised over 4600 cases per year. During 2000 - 2008 period following mean incidences (per 10 000 live births) of selected defects were ascertained (total incidences including prenatal diagnostics in brackets): anencephaly 0 - 0.3 (1.9 - 3.7), spina bifida 0.7 - 2.3 (3.2 - 5.2), encephalocele 0.1 - 0.4 (0.9 - 2.4), congenital hydrocephalus 1.6 - 3.5 (5.3 - 7.0), coarctation of aorta 3.9 - 5.2 (4.8 - 6.1), transposition of great vessels 2.9 - 4.5 (3.2 - 5.0), hypoplastic left

  13. [Stent implantation for relief of pulmonary artery branch stenosis].

    Science.gov (United States)

    Guo, Ying; Yu, Zhiqing; Liu, Tingliang; Gao, Wei; Huang, Meirong; Li, Fen; Fu, Lijun; Zhao, Pengjun

    2014-05-01

    Branch pulmonary artery stenosis is one of the common congenital heart disease. Stent implantation to relieve branch pulmonary artery stenosis (BPAS) is an alternative to failed surgical or balloon angioplasty. The aim of this study was to explore the indication, methods and complications of using balloon expandable stent placement to treat branch pulmonary artery stenosis, and evaluate the results of stent implantation in the treatment of branch pulmonary artery stenosis. From August 2005 to December 2012, 19 patients underwent an attempt at stent implantation. The median age of those patients was 9.1 years (range 4.0-15.0 years). The median weight was 31.7 kg (range 17.0-60.5 kg); 14/19 patients underwent post surgical repair of tetralogy of Fallot, one patient received post surgical repair of pulmonary atresia with ventricular septal defect, one patient underwent post surgical repair of pulmonary atresia with intact septum, one with native left BPAS, and one was after surgical repair of aortopulmonary window and the other truncus arteriosus. CP stent and NuMED Balloon-in-Balloon catheter were selected according to digital subtracted angiography measurements. After checking for correct position by angiography, the inner balloon and outer balloon was inflated successively to expand the stent to desired diameter. Statistical analysis was performed with the unpaired Student t test. A total of 26 stents were implanted successfully in 19 patients. The systolic gradient across the stenosis fell from a median of (36.0 ± 18.3) to (3.8 ± 3.4) mmHg (P aortic pressure ratio fell from 0.68 to 0.49 (P children will require further dilation to keep up with normal somatic growth. Intermediate and long-term follow up studies have shown excellent results after further dilation over time.

  14. Congenital anomalies of coronary arteries in complex congenital heart disease: diagnosis and analysis with dual-source CT.

    Science.gov (United States)

    Yu, Fang-fang; Lu, Bin; Gao, Yang; Hou, Zhi-hui; Schoepf, U Joseph; Spearman, James V; Cao, Hui-li; Sun, Ming-li; Jiang, Shi-liang

    2013-01-01

    Congenital heart diseases (CHDs) are sometimes associated with coronary artery anomalies (CAAs). Accurate preoperative evaluation of coronary artery anatomy is essential for successful surgical repair of complex CHD. The aim of this study was to evaluate the incidence of congenital CAAs in patients with complex CHD at dual-source CT. Four hundred seventeen consecutive patients with complex CHD underwent contrast-enhanced cardiac CT angiography. The results were retrospectively analyzed, including the types and incidences of CAAs in various forms of complex CHD. Each patient was analyzed independently by 2 experienced cardiovascular radiologists. Image quality of coronary arteries was assessed on a 5-point scale with 2 or less being nondiagnostic. Thirty-five of 417 studies were nondiagnostic (8.39%). Sixty-three cases of CAA (15.11%) were detected by anomalous ostia and coronary arteries. CAA was involved in 6 of 108 patients with tetralogy of Fallot (5.56%), 18 of 84 patients with double outlet right ventricle (21.43%), 11 of 97 patients with pulmonary artery atresia (11.34%), 7 of 36 patients with transposition of the great arteries (22.22%), 15 of 41 patients with single ventricle (36.59%), 4 of 12 patients with truncus arteriosus/aortopulmonary window (33.33%), and 2 of 39 patients with interruption of the aortic arch/coarctation of the aorta (5.13%). Twenty of these were accompanied with an anomalous coronary course (31.74%). Patients with complex CHD have a higher prevalence of CAAs, which should be considered before surgery. Dual-source CT is an effective technique to visualize and evaluate complex CHD. Copyright © 2013 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

  15. Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium.

    Science.gov (United States)

    Hills, Christine; Moller, James H; Finkelstein, Marsha; Lohr, Jamie; Schimmenti, Lisa

    2006-05-01

    To analyze the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) database from 1982 to 2002 to determine the frequency and distribution of congenital heart disease (CHD) found in this population, to review the literature for previously published accounts of CHD in this population, and to review current genotype-phenotype associations for cri du chat (CDC) syndrome with CHD. We performed a retrospective review of the 98422 CHD cases submitted to the PCCC between 1982 and 2002, to find patients who had a noncardiac diagnosis of CDC syndrome. A total of 21 patients (15 female and 6 male patients) were identified. Although some patients had multiple cardiac anomalies, they were categorized according to primary diagnoses on the basis of the most hemodynamically significant component. The patient groups were ventricular septal defect (n = 6), patent ductus arteriosus (n = 6), tetralogy of Fallot (n = 5), pulmonary valve atresia with ventricular septal defect (n = 2), pulmonary valve stenosis (n = 1), and double-outlet right ventricle (n = 1). Eighteen of the 21 patients underwent surgical repair of their defects. There was 1 late operative death. To determine whether the observed frequency of these cardiac defects among patients with CDC syndrome was comparable to that of the general population of patients with CHD, data for all cases submitted to the PCCC from 1982 to 2002 were used. Use of these numbers to determine expected frequencies for these defects showed significantly greater proportions of patients with these specific lesions among the patients with CDC syndrome. Currently there is no clear understanding of the genomic cause of the prevalence of these defects in the population with CDC syndrome, although CHD has been noted among patients with other deletion syndromes.

  16. Group-wise construction of reduced models for understanding and characterization of pulmonary blood flows from medical images.

    Science.gov (United States)

    Guibert, Romain; McLeod, Kristin; Caiazzo, Alfonso; Mansi, Tommaso; Fernández, Miguel A; Sermesant, Maxime; Pennec, Xavier; Vignon-Clementel, Irene E; Boudjemline, Younes; Gerbeau, Jean-Frédéric

    2014-01-01

    3D computational fluid dynamics (CFD) in patient-specific geometries provides complementary insights to clinical imaging, to better understand how heart disease, and the side effects of treating heart disease, affect and are affected by hemodynamics. This information can be useful in treatment planning for designing artificial devices that are subject to stress and pressure from blood flow. Yet, these simulations remain relatively costly within a clinical context. The aim of this work is to reduce the complexity of patient-specific simulations by combining image analysis, computational fluid dynamics and model order reduction techniques. The proposed method makes use of a reference geometry estimated as an average of the population, within an efficient statistical framework based on the currents representation of shapes. Snapshots of blood flow simulations performed in the reference geometry are used to build a POD (Proper Orthogonal Decomposition) basis, which can then be mapped on new patients to perform reduced order blood flow simulations with patient specific boundary conditions. This approach is applied to a data-set of 17 tetralogy of Fallot patients to simulate blood flow through the pulmonary artery under normal (healthy or synthetic valves with almost no backflow) and pathological (leaky or absent valve with backflow) conditions to better understand the impact of regurgitated blood on pressure and velocity at the outflow tracts. The model reduction approach is further tested by performing patient simulations under exercise and varying degrees of pathophysiological conditions based on reduction of reference solutions (rest and medium backflow conditions respectively). Copyright © 2013 Elsevier B.V. All rights reserved.

  17. Range and distribution of NT-proBNP values in stable corrected congenital heart disease of various types.

    Science.gov (United States)

    Popelová, Jana; Kotaška, Karel; Černý, Stěpán; Prokopová, Milena; Rubáček, Miroslav

    2012-01-01

    Elevated levels of N-terminal pro-brain natriuretic peptide (NT-proBNP) are an expected finding in many adults with congenital heart disease (ACHD) but no reports have described the range of values within different diagnostic groups. Between the years 2003 and 2011 we measured NT-proBNP in consecutive ACHD patients attending the outpatient department. Further NT-proBNP analysis was performed on 705 blood samples from 394 stable patients with the defect corrected. The results were compared among different diagnostic groups and with a control group of healthy volunteers. The median value of NT-proBNP in the whole cohort was signifinatly higher than in the control group (211 vs 42 pg/mL; P < 0.0001). The median value of NT-proBNP in pg/mL and the percentage of normal NT-proBNP values in the listed diagnostic groups were as follows: coarctation of the aorta (COA), 97 (64%); pulmonary stenosis (PS),160 (48%); secundum atrial septal defect (ASD), 254 (44%); incomplete atrioventricular septal defect (AVSD), 211 (32%); ventricular septal defect (VSD), 154 (58%); tetralogy of Fallot (TOF), 177 (38%); transposition of the great arteries (TGA) after Mustard, 237 (20%) or Senning correction, 143 (39%); Ebstein anomaly 287, (26%); pulmonary atresia (PA), 327 (18%); and complex defects after Fontan procedure, 184 (31%). Normal levels of NT-proBNP were found most often in patients after the correction of coarctation of the aorta and ventricular septal defect with the highest levels found in pulmonary atresia and Ebstein anomaly. Our results may serve as reference values for different ACHD groups. Copyright © 2012 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  18. Application of new balloon catheters in the treatment of congenital heart defects

    Directory of Open Access Journals (Sweden)

    Roland Fiszer

    2016-08-01

    Full Text Available Introduction : Balloon angioplasty (BAP and aortic or pulmonary balloon valvuloplasty (BAV, BPV are well-established treatment options in congenital heart defects. Recently, significant technological progress has been made and new catheters have been implemented in clinical practice. Aim: To analyze the results of BAP, BAV and BPV with the new balloon catheter Valver and its second generation Valver II, which the company Balton (Poland launched and developed. These catheters have not been clinically evaluated yet. Material and methods: We performed 64 interventions with Valver I and Valver II. With Valver I the following procedures were performed: 17 BPV (including 9 in tetralogy of Fallot – TOF, 10 BAV and 27 BAP in coarctations of the aorta (CoA – including 9 native and 18 after surgery. With Valver II ten interventions were done – 3 BPV, 2 pulmonary supravalvular BAP (after switch operations, 2 BAP of recoarctations and 3 other BAP. Age of the patients ranged from a few days to 40 years. Results: All procedures were completed successfully, without rupture of any balloon catheters. The pressure gradient drop was statistically significant in all groups: BPV in isolated pulmonary valvular stenosis 28.1 mm Hg (mean, BPV in TOF 18.7 mm Hg, BAV 32.8 mm Hg, BAP in native CoA 15.4 mm Hg and in recoarctations 18.6 mm Hg. In 3 cases during rapid deflation of Valver I, wrinkles of the balloons made it impossible to insert the whole balloon into the vascular sheath (all were removed surgically from the groin. No such complication occured with Valver II. Conclusions : Valver balloon catheters are an effective treatment modality in different valvular and vascular stenoses.

  19. Bayesian Multinomial Probit Modeling of Daily Windows of Susceptibility for Maternal PM2.5 Exposure and Congenital Heart Defects

    Science.gov (United States)

    Warren, Joshua L.; Stingone, Jeanette A.; Herring, Amy H.; Luben, Thomas J.; Fuentes, Montserrat; Aylsworth, Arthur S.; Langlois, Peter H.; Botto, Lorenzo D.; Correa, Adolfo; Olshan, Andrew F.

    2016-01-01

    Epidemiologic studies suggest maternal ambient air pollution exposure during critical periods of pregnancy is associated with adverse effects on fetal development. In this work, we introduce new methodology for identifying critical periods of development during post-conception gestational weeks 2–8 where elevated exposure to particulate matter less than 2.5 micrometers (PM2.5) adversely impacts development of the heart. Past studies have focused on highly aggregated temporal levels of exposure during the pregnancy and have failed to account for anatomical similarities between the considered congenital heart defects (CHDs). We introduce a multinomial probit model in the Bayesian setting that allows for joint identification of susceptible daily periods during pregnancy for 12 types of CHDs with respect to maternal PM2.5 exposure. We apply the model to a dataset of mothers from the National Birth Defect Prevention Study where daily PM2.5 exposures from post-conception gestational weeks 2–8 are assigned using predictions from the downscaler pollution model. This approach is compared to two aggregated exposure models that define exposure as the average value over post-conception gestational weeks 2–8 and the average over individual weeks respectively. Results suggest an association between increased PM2.5 exposure on post-conception gestational day 53 with the development of pulmonary valve stenosis and exposures during days 50–51 with tetralogy of Fallot. Significant associations are masked when using the aggregated exposure models. Simulation study results suggest the findings are robust to multiple sources of error. The general form of the model allows for different exposures and health outcomes to be considered in future applications. PMID:26853919

  20. Radiological evaluation of pulmonary atresia: An analysis of cineangiography in 32 cases

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Dong Ho; Yeon, Kyung Mo; Park, Jae Hyung; Han, Man Chung; Yoon, Yong Soo [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1983-06-15

    Total 32 cases of pulmonary atresia were diagnosed radiographically at Seoul National University Hospital from March, 1979 to August 1982. Some characteristic radiological findings were analyzed in chest PA and cineangiographies. The results were as follows: 1. In the evaluation of chest PA, cardiomegaly was noticed in 16 cases, dextrocardia in 8 cases, elevated cardiac apex in 7 cases and right-sided aortic arch in 6 cases. The pulmonary vascularties were mildly decreased in 20 cases, markedly decreased in 9 cases and decreased with reticular pattern in 3 cases. 2. As final diagnoses after cineangiography, pulmonary atresia was associated with Tetralogy of Fallot variant in 17 cases, transposition of great vessels in 7 cases, single ventricle in 5 cases, tricuspid atresia in 2 cases and intact ventricular septum in 1 case. 3. The classification according to the pattern of pulmonary artery is main pulmonary trunk with PDA(Type Ia) in 10 cases, pulmonary arterial confluence with PDA (Type Ib) in 10 cases, no pulmonary arterial confluence with PDA (Type Ic) in 5 cases, main pulmonary trunk without PDA (Type IIa) in 0 case, pulmonary arterial confluence without PDA (Type IIb) in 5 cases, and no pulmonary arterial confluence without PDA ( Type IIc) in 2 cases. 4. Pulmonary wedge venography was done and successful in 8 cases. Among them, confluence between right and left pulmonary arteries was noticed in 5 cases. 5. Biventricular cineangiograpy and/or pulmonary wedge venography, if necessary, is essential for the accurate diagnosis of pulmonary atresia to demonstrate detailed anatomy of pulmonary artery.

  1. Feasibility of Using Electronic Medical Record Data for Tracking Quality Indicators in Adults with Congenital Heart Disease.

    Science.gov (United States)

    Broberg, Craig; Sklenar, Jiri; Burchill, Luke; Daniels, Curt; Marelli, Arianne; Gurvitz, Michelle

    2015-01-01

    In order to determine the feasibility of tracking quality of care in adults with congenital heart disease (ACHD), we aimed to estimate the availability of relevant data in electronic medical records (EMR) used in North American ACHD centers. Previously proposed quality indicators (QIs) were reviewed to consider what types of data would be required for each. ACHD program directors were surveyed about the nature of electronic data in existing EMRs. From the survey, the availability of data types needed for the denominator and numerator of each QI were estimated, and an overall estimate of data availability was calculated for each QI. These estimates were adjusted by the sensitivity of identifying the patients through administrative codes. Analysis was repeated for scenarios in which various data type estimates were hypothetically dropped by half to determine the overall impact of each data type. A total of 64 ACHD program directors responded to the survey. Of 55 QIs, average estimated data availability was 67%. QIs for tetralogy of Fallot had the highest estimated data availability (mean 88%), whereas those for atrial septal defect were lowest (mean 23%), reflecting both the need for interpretation of imaging studies and the lower reliability of billing codes for identification of ACHD patients. QIs with highest estimates were based largely on administrative data, which had the biggest impact on overall estimates. QIs needing interpretation of imaging findings had the lowest estimates, as well as certain overuse measures. For a wide range of ACHD programs, data for proposed QIs based on administrative data are most likely to be obtainable through EMR. Data related to imaging interpretation or overuse measures are least likely. Our findings can inform future efforts to establish registry efforts or data reporting tools to track these indicators. © 2015 Wiley Periodicals, Inc.

  2. Development of quality metrics for ambulatory pediatric cardiology: Infection prevention.

    Science.gov (United States)

    Johnson, Jonathan N; Barrett, Cindy S; Franklin, Wayne H; Graham, Eric M; Halnon, Nancy J; Hattendorf, Brandy A; Krawczeski, Catherine D; McGovern, James J; O'Connor, Matthew J; Schultz, Amy H; Vinocur, Jeffrey M; Chowdhury, Devyani; Anderson, Jeffrey B

    2017-12-01

    In 2012, the American College of Cardiology's (ACC) Adult Congenital and Pediatric Cardiology Council established a program to develop quality metrics to guide ambulatory practices for pediatric cardiology. The council chose five areas on which to focus their efforts; chest pain, Kawasaki Disease, tetralogy of Fallot, transposition of the great arteries after arterial switch, and infection prevention. Here, we sought to describe the process, evaluation, and results of the Infection Prevention Committee's metric design process. The infection prevention metrics team consisted of 12 members from 11 institutions in North America. The group agreed to work on specific infection prevention topics including antibiotic prophylaxis for endocarditis, rheumatic fever, and asplenia/hyposplenism; influenza vaccination and respiratory syncytial virus prophylaxis (palivizumab); preoperative methods to reduce intraoperative infections; vaccinations after cardiopulmonary bypass; hand hygiene; and testing to identify splenic function in patients with heterotaxy. An extensive literature review was performed. When available, previously published guidelines were used fully in determining metrics. The committee chose eight metrics to submit to the ACC Quality Metric Expert Panel for review. Ultimately, metrics regarding hand hygiene and influenza vaccination recommendation for patients did not pass the RAND analysis. Both endocarditis prophylaxis metrics and the RSV/palivizumab metric passed the RAND analysis but fell out during the open comment period. Three metrics passed all analyses, including those for antibiotic prophylaxis in patients with heterotaxy/asplenia, for influenza vaccination compliance in healthcare personnel, and for adherence to recommended regimens of secondary prevention of rheumatic fever. The lack of convincing data to guide quality improvement initiatives in pediatric cardiology is widespread, particularly in infection prevention. Despite this, three metrics were

  3. Safety and Efficacy of Prophylactic Amiodarone in Preventing Early Junctional Ectopic Tachycardia (JET) in Children After Cardiac Surgery and Determination of Its Risk Factor.

    Science.gov (United States)

    Amrousy, Doaa El; Elshehaby, Walid; Feky, Wael El; Elshmaa, Nagat S

    2016-04-01

    Postoperative arrhythmia is a common complication after open heart surgery in children. JET is the most common and dangerous arrhythmia. We aimed to assess safety and efficacy of prophylactic amiodarone in preventing JET in children underwent cardiac surgery and to assess risk factors for JET among our patients. In total, 117 children who underwent cardiac surgery for CHD at Tanta University Hospital from October 2011 to April 2015 were divided in two groups; amiodarone group (65 patients) was given prophylactic amiodarone intraoperatively and placebo group (52 patients). Amiodarone is started as loading dose of 5 mg/kg IV in the operating room after induction of anesthesia and continued for 3 days as continuous infusion 10-15 μg/kg/min. Primary outcome and secondary outcomes of amiodarone administration were reported. We studied pre-, intra- and postoperative factors to determine risk factors for occurrence of JET among these children. Prophylactic amiodarone was found to significantly decrease incidence of postoperative JET from 28.9 % in placebo group to 9.2 % in amiodarone group, and symptomatic JET from 11.5 % in placebo group to 3.1 % in amiodarone group, and shorten postoperative intensive care unit and hospital stay without significant side effects. Risk factors for occurrence of JET were younger age, lower body weight, longer cardiopulmonary bypass, aortic cross-clamp time, hypokalemia, hypomagnesemia, acidosis and high dose of inotropes. JET was more associated with surgical repair of right ventricular outlet obstruction as in case of tetralogy of Fallot and pulmonary stenosis. Most of JET 15/21 (71.4 %) occurred in the first day postoperatively, and 6/21 occurred in the second day (28.6 %). Prophylactic amiodarone is safe and effective in preventing early JET in children after open heart surgery.

  4. Ultrasound and echocardiographic findings obtained in the second and third trimesters of gestation in fetuses with normal karyotype and increased nuchal translucency

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    Hanna Moczulska

    2013-03-01

    Full Text Available Introduction: Numerous papers have proven that an increased nuchal translucency is connected with a raised risk of chromosomal aberrations, but few analyses are related to the further state of fetuses with a normal karyotype. The aim of the study was to estimate the risk of cardiac defects and other developmental disorders in fetuses with increased nuchal translucency and normal findings of a standard cytogenetic examination. Methods: The authors carried out a retrospective analysis of 5183 examinations of 3376 patients who reported to the Department of Diagnosis and Prophylaxis of Congenital Malformations in the Polish Mother’s Memorial Hospital in Łódź in the period from January 2008 to March 2011 for prenatal ultrasound and echocardiographic examinations. The authors analyzed the results of the examinations performed in the second and third trimesters of gestation in fetuses with an increased nuchal translucency of ≥3 mm in the first trimester and with a normal karyotype. Results: Fifty-seven patients (1.7% of the examined group fulfilled the criteria necessary to be included in the study. In 31 pregnant women (54% structural defects or anomalies of the fetus were found. Cardiac anomalies were detected in 17 fetuses (29.8%. The authors detected various types of cardiac defects such as tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, transposition of the great arteries and hypoplastic left heart syndrome. Conclusions: In more than half of the fetuses with an increased nuchal translucency (NT≥3 mm and a normal karyotype, developmental defects of various organs appeared in the further course of pregnancy: mainly heart defects that were either isolated, or accompanied other anomalies.

  5. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.

    Science.gov (United States)

    Griffin, Helen R; Hall, Darroch H; Topf, Ana; Eden, James; Stuart, A Graham; Parsons, Jonathan; Peart, Ian; Deanfield, John E; O'Sullivan, John; Babu-Narayan, Sonya V; Gatzoulis, Michael A; Bu'lock, Frances A; Bhattacharya, Shoumo; Bentham, Jamie; Farrall, Martin; Granados Riveron, Javier; Brook, J David; Burn, John; Cordell, Heather J; Goodship, Judith A; Keavney, Bernard

    2009-01-01

    Several previous studies have investigated the role of common promoter variants in the vascular endothelial growth factor (VEGF) gene in causing congenital cardiovascular malformation (CVM). However, results have been discrepant between studies and no study to date has comprehensively characterised variation throughout the gene. We genotyped 771 CVM cases, of whom 595 had the outflow tract malformation Tetralogy of Fallot (TOF), and carried out TDT and case-control analyses using haplotype-tagging SNPs in VEGF. We carried out a meta-analysis of previous case-control or family-based studies that had typed VEGF promoter SNPs, which included an additional 570 CVM cases. To identify rare variants potentially causative of CVM, we carried out mutation screening in all VEGF exons and splice sites in 93 TOF cases. There was no significant effect of any VEGF haplotype-tagging SNP on the risk of CVM in our analyses of 771 probands. When the results of this and all previous studies were combined, there was no significant effect of the VEGF promoter SNPs rs699947 (OR 1.05 [95% CI 0.95-1.17]); rs1570360 (OR 1.17 [95% CI 0.99-1.26]); and rs2010963 (OR 1.04 [95% CI 0.93-1.16]) on the risk of CVM in 1341 cases. Mutation screening of 93 TOF cases revealed no VEGF coding sequence variants and no changes at splice consensus sequences. Genetic variation in VEGF appears to play a small role, if any, in outflow tract CVM susceptibility.

  6. Outcome of cardiac surgery in patients with congenital heart disease in England between 1997 and 2015

    Science.gov (United States)

    Dimopoulos, Konstantinos; Uebing, Anselm; Diller, Gerhard-Paul; Rosendahl, Ulrich; Belitsis, George

    2017-01-01

    Background The number of patients with congenital heart disease (CHD) is increasing worldwide and most of them will require cardiac surgery, once or more, during their lifetime. The total volume of cardiac surgery in CHD patients at a national level and the associated mortality and predictors of death associated with surgery are not known. We aimed to investigate the surgical volume and associated mortality in CHD patients in England. Methods Using a national hospital episode statistics database, we identified all CHD patients undergoing cardiac surgery in England between 1997 and 2015. Results We evaluated 57,293 patients (median age 11.9years, 46.7% being adult, 56.7% female). There was a linear increase in the number of operations performed per year from 1,717 in 1997 to 5,299 performed in 2014. The most common intervention at the last surgical event was an aortic valve procedure (9,276; 16.2%), followed by repair of atrial septal defect (9,154; 16.0%), ventricular septal defect (7,746; 13.5%), tetralogy of Fallot (3,523; 6.1%) and atrioventricular septal defect (3,330; 5.8%) repair. Associated mortality remained raised up to six months following cardiac surgery. Several parameters were predictive of post-operative mortality, including age, complexity of surgery, need for emergency surgery and socioeconomic status. The relationship of age with mortality was “U”-shaped, and mortality was highest amongst youngest children and adults above 60 years of age. Conclusions The number of cardiac operations performed in CHD patients in England has been increasing, particularly in adults. Mortality remains raised up to 6-months after surgery and was highest amongst young children and seniors. PMID:28628610

  7. Baseline correction of phase-contrast images in congenital cardiovascular magnetic resonance

    Directory of Open Access Journals (Sweden)

    Lai Wyman W

    2010-03-01

    Full Text Available Abstract Background One potential source of error in phase contrast (PC congenital CMR flow measurements is caused by phase offsets due to local non-compensated eddy currents. Phantom correction of these phase offset errors has been shown to result in more accurate measurements of blood flow in adults with structurally normal hearts. We report the effect of phantom correction on PC flow measurements at a clinical congenital CMR program. Results Flow was measured in the ascending aorta, main pulmonary artery, and right and left pulmonary arteries as clinically indicated, and additional values such as Qp/Qs were derived from these measurements. Phantom correction in our study population of 149 patients resulted in clinically significant changes in 13% to 48% of these phase-contrast measurements in patients with known or suspected heart disease. Overall, 640 measurements or calculated values were analyzed, and clinically significant changes were found in 31%. Larger vessels were associated with greater phase offset errors, with 22% of the changes in PC flow measurements attributed to the size of the vessel measured. In patients with structurally normal hearts, the pulmonary-to-systemic flow ratio after phantom correction was closer to 1.0 than before phantom correction. There was no significant difference in the effect of phantom correction for patients with tetralogy of Fallot as compared to the group as a whole. Conclusions Phantom correction often resulted in clinically significant changes in PC blood flow measurements in patients with known or suspected congenital heart disease. In laboratories performing clinical CMR with suspected phase offset errors of significance, the routine use of phantom correction for PC flow measurements should be considered.

  8. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.

    Directory of Open Access Journals (Sweden)

    Helen R Griffin

    Full Text Available Several previous studies have investigated the role of common promoter variants in the vascular endothelial growth factor (VEGF gene in causing congenital cardiovascular malformation (CVM. However, results have been discrepant between studies and no study to date has comprehensively characterised variation throughout the gene. We genotyped 771 CVM cases, of whom 595 had the outflow tract malformation Tetralogy of Fallot (TOF, and carried out TDT and case-control analyses using haplotype-tagging SNPs in VEGF. We carried out a meta-analysis of previous case-control or family-based studies that had typed VEGF promoter SNPs, which included an additional 570 CVM cases. To identify rare variants potentially causative of CVM, we carried out mutation screening in all VEGF exons and splice sites in 93 TOF cases. There was no significant effect of any VEGF haplotype-tagging SNP on the risk of CVM in our analyses of 771 probands. When the results of this and all previous studies were combined, there was no significant effect of the VEGF promoter SNPs rs699947 (OR 1.05 [95% CI 0.95-1.17]; rs1570360 (OR 1.17 [95% CI 0.99-1.26]; and rs2010963 (OR 1.04 [95% CI 0.93-1.16] on the risk of CVM in 1341 cases. Mutation screening of 93 TOF cases revealed no VEGF coding sequence variants and no changes at splice consensus sequences. Genetic variation in VEGF appears to play a small role, if any, in outflow tract CVM susceptibility.

  9. Outcome of cardiac surgery in patients with congenital heart disease in England between 1997 and 2015.

    Directory of Open Access Journals (Sweden)

    Aleksander Kempny

    Full Text Available The number of patients with congenital heart disease (CHD is increasing worldwide and most of them will require cardiac surgery, once or more, during their lifetime. The total volume of cardiac surgery in CHD patients at a national level and the associated mortality and predictors of death associated with surgery are not known. We aimed to investigate the surgical volume and associated mortality in CHD patients in England.Using a national hospital episode statistics database, we identified all CHD patients undergoing cardiac surgery in England between 1997 and 2015.We evaluated 57,293 patients (median age 11.9years, 46.7% being adult, 56.7% female. There was a linear increase in the number of operations performed per year from 1,717 in 1997 to 5,299 performed in 2014. The most common intervention at the last surgical event was an aortic valve procedure (9,276; 16.2%, followed by repair of atrial septal defect (9,154; 16.0%, ventricular septal defect (7,746; 13.5%, tetralogy of Fallot (3,523; 6.1% and atrioventricular septal defect (3,330; 5.8% repair. Associated mortality remained raised up to six months following cardiac surgery. Several parameters were predictive of post-operative mortality, including age, complexity of surgery, need for emergency surgery and socioeconomic status. The relationship of age with mortality was "U"-shaped, and mortality was highest amongst youngest children and adults above 60 years of age.The number of cardiac operations performed in CHD patients in England has been increasing, particularly in adults. Mortality remains raised up to 6-months after surgery and was highest amongst young children and seniors.

  10. Population-based treated prevalence of congenital heart disease in a pediatric cohort.

    Science.gov (United States)

    Shuler, C Osborne; Black, George B; Jerrell, Jeanette M

    2013-03-01

    Extant epidemiologic results for pediatric congenital heart disease (CHD) are dated. Given the degree of variability in previous prevalence estimates and the rapid changes in pediatric cardiology diagnostic and treatment procedures, a reexamination of these rates represents a potentially important update in this area of inquiry. This report characterizes the prevalence rates of children with CHD in one state's treated pediatric population by type of lesion and in comparison with published rates from previous studies. Two 15-year data sets (1996-2010) are analyzed. The inclusion criteria for the study required the participants to be 17 years or younger, enrollees in the South Carolina State Medicaid or State Health Plan, and recipients of a CHD diagnosis on one or more service visits to a pediatrician or pediatric cardiologist. A 15-year accrued prevalence rate for pediatric CHD of 16.7 per 1,000 was found among 1,145,364 unduplicated children served. The annual incidence rates varied from 6.3 to 8.6 per 1,000, with an initial downward trend from 1996 to 2002 followed by an upward trend from 2003 to 2008. A higher prevalence of atrioventricular canal/endocardial cushion defects, common/single ventricle, double-outlet right ventricle, tetralogy of Fallot, and truncus arteriosus and a lower prevalence of dextro-transposition of the great arteries were diagnosed in South Carolina than in other states and countries according to published results. The study results underscore the need for periodic updating of prevalence data for pediatric CHD, both in total and for specific lesions, to anticipate and provide more specialized care to young patients with CHD, especially in the more rare and complex cases.

  11. Midterm evaluation of biological prosthetic valves in the pulmonary position of grown-up patients.

    Science.gov (United States)

    Vohra, Hunaid A; Whistance, Robert N; Baliulis, Gedrius; Janusauskas, Vilius; Kaarne, Marrkku; Veldtman, Gruschen R; Roman, Kevin; Vettukattil, Joseph J; Gnanapragasam, James; Salmon, Anthony P; Haw, Marcus P

    2012-04-01

    To examine the midterm clinical outcome of pulmonary valve replacement (PVR) with prosthetic valves. We reviewed 37 consecutive patients who underwent PVR with biological prosthetic valves between September 1999 and June 2010. The median age was 22.6 years (range: 6 to 70 years; three children). The primary diagnosis was Tetralogy of Fallot in 20 patients (54%). Valve pathology was regurgitation in 27 patients (72.9%). Cardiac surgery had been previously performed in 35 patients (94.5%). The median size of the prosthesis was 25 mm (range: 21 to 31 mm). The median follow-up was 42 months (range: 1.2 to 129 months). There were no early valve-related deaths. Hospital mortality was 2.7% (n = 1) and no patient required early rereplacement of prosthesis. Two patients required permanent pacemaker insertion. During follow-up, there was no late death, reoperation for structural valve degeneration, or valve thrombosis. Only one patient required repeated operation for endocarditis at 37 months follow-up. The actuarial survival at 5 years was 95.1 ± 3.8%. Overall freedom from reoperation after PVR at 5 years was 93.0 ± 8.6%. At last follow-up, 34 patients (91.8%) were NYHA class I versus 20 patients (54%) preoperatively (p right ventricular function compared with 26 patients (74.2%) preoperatively. PVR with biological prosthetic valves can be performed with good midterm survival, functional status, and haemodynamics. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  12. Intraoperative Stenting of Pulmonary Artery Stenosis in Children With Congenital Heart Disease.

    Science.gov (United States)

    Meot, Mathilde; Lefort, Bruno; El Arid, Jean Marc; Soulé, Nathalie; Lothion-Boulanger, Julie; Lengellé, François; Chantepie, Alain; Neville, Paul

    2017-07-01

    Branch pulmonary artery (BPA) stenosis is frequently associated with congenital heart disease. Management of BPA stenosis is challenging for surgeons due to a high rate of recurrence. The purpose of this study was to assess the results of intraoperative pulmonary artery stenting associated with or without surgical angioplasty. We included 33 children from our center between January 2008 and July 2014. Patients had pulmonary atresia with ventricular septal defect (13), tetralogy of Fallot (10), troncus arteriosus (4), double outlet right ventricle (2), and single left or right ventricle (4). A total of 44 balloon-expandable stents (mean diameter, 9.5 mm; range, 4 to 16 mm) were deployed in left or right PA under direct visualization, without the use of fluoroscopy, after branch angioplasty for 28 of them (64%). The mean age at surgery was 4.3 ± 4.3 years (range, 6 days to 15 years) and the mean weight was 14.3 ± 11.9 kg (range, 2.8 to 63 kg). Postoperative mortality was 9% (3 patients), but only 1 death was related to the stenting procedure. Twenty-five patients underwent angiographic control after a mean follow-up of 22 months after surgery. All stents were well positioned. The mean stented BPA Z-score increased from -2.6 ± 1.8 to -0.4 ± 1.6 (p < 0.0001). Eleven patients experienced intrastent proliferation (44%). Among them, 2 patients required a reoperation for severe intrastent stenosis, whereas the 9 others had mild intrastent neointimal proliferation, which was successfully managed by balloon expansion. Intraoperative stenting of BPA is a safe and effective option to treat BPA stenosis and prevent recurrence. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  13. Role of connexins in human congenital heart disease: the chicken and egg problem

    Directory of Open Access Journals (Sweden)

    Aida eSalameh

    2013-06-01

    Full Text Available Inborn cardiac diseases are among the most frequent congenital anomalies and are the main cause of death in infants within the first year of age in industrialized countries when not adequately treated. They can be divided into simple and complex cardiac malformations. The former ones, for instance atrial and ventricular septal defects, valvular or subvalvular stenosis or insufficiency account for up to 80% of cardiac abnormalities. The latter ones, for example transposition of the great vessels, Tetralogy of Fallot or Shone's anomaly often do not involve only the heart but also the great vessels and although occurring less frequently these severe cardiac malformations will become symptomatically within the first months of age and have a high risk of mortality if the patients remain untreated. In the last decade there is increasing evidence that cardiac gap junction proteins, the connexins (Cx, might have an impact on cardiac anomalies. In the heart mainly three of them (Cx40, Cx43 and Cx45 are differentially expressed with regard to temporal organogenesis and to their spatial distribution in the heart. These proteins, forming gap junction channels, are most important for a normal electrical conduction and coordinated synchronous heart muscle contraction and also for the normal embryonic development of the heart. Animal and also some human studies revealed that at least in some cardiac malformations alterations in certain gap junction proteins are present but until today no particular gap junction mutation could be assigned to a specific cardiac anomaly. As gap junctions transmit growth and differentiation signals from cell to cell it is reasonable to assume that they are somehow involved in misdirected growth present in many inborn heart diseases playing a primary or contributory role. This review addresses potential role of gap junctions in the development of inborn heart anomalies like the conotruncal heart defects.

  14. Spectrum and features of congenital heart disease in Xi'an, China as detected using fetal echocardiography.

    Science.gov (United States)

    Wei, Y J; Liu, B M; Zhou, Y H; Jia, X H; Mu, S G; Gao, X R; Yang, M L; Zhang, Y

    2014-11-11

    This study aimed to investigate the spectrum and features of congenital heart disease (CHD) in Xi'an, China using fetal echocardiography. All pregnant women referred for fetal echocardiography underwent a systematic fetal echocardiographic examination. Each case of complex defects was diagnosed according to the predominant pathophysiology, and the overall frequency of each defect was recorded and classified according to its location in the fetal heart. CHD was diagnosed in 195 fetuses. The top 5 types of CHD were, in order, single ventricle (15.9%, 31/195), atrioventricular septal defect (12.3%, 24/195), ventricular septal defect (VSD) (11.8%, 23/195), tetralogy of Fallot (10.8%, 21/195), and double-outlet right ventricle (8.2%, 16/195). The 195 cases of CHD comprised 316 defects in total. The most common defect was ventricular malformation (40.5%, 128/316), followed by great artery anomalies (38.0%, 120/316), endocardial cushion abnormalities (11.7%, 37/316), atrial abnormalities (6.6%, 21/316), and semilunar valve abnormalities (3.2%, 10/316). VSD accounted for the largest proportion (24.4%, 77/316) of the ventricular malformations. The total proportion of obstructive lesions in this group was much higher for the right than for the left side of the heart (18.4% (58/316) vs 9.5% (30/316), respectively). The spectrum of fetal CHD detected by echocardiography was much different compared to that accepted in the past. Complex defects were more common prenatally. Ventricular malformations were the largest constituent of all of the defects associated with fetal CHD, and VSD was the most common component of complex defects. Chinese fetal CHD encompassed more right-sided than left-sided obstructive lesions.

  15. Indications and results of systemic to pulmonary shunts: results from a national database.

    Science.gov (United States)

    Dorobantu, Dan Mihai; Pandey, Ragini; Sharabiani, Mansour Taghavi; Mahani, Alireza Shahidzadeh; Angelini, Gianni Davide; Martin, Robin Peter; Stoica, Serban Constantin

    2016-06-01

    The systemic-to-pulmonary shunt (SPS) remains an important palliative therapy in many congenital heart defects. Unlike other surgical treatments, the mortality after shunt operations has risen. We used an audit dataset to investigate potential reasons for this change and to report national results. A total of 1993 patients classified in 13 diagnoses underwent an SPS procedure between 2000 and 2013. Indication trends by era and also results before repair or next stage are reported. A dynamic hazard model with competing risks and modulated renewal was used to determine predictors of outcomes. The usage of SPS in Tetralogy of Fallot (ToF) has significantly decreased in the last decade, with cases of single ventricle (SV) and pulmonary atresia (PA) with septal communication increasing (P ventricular septal defect, corrected transposition, isomerism, central shunt and low weight are among those associated with increased reintervention, also having a dynamic effect on the relative risk when compared with ToF patients. Shunt reinterventions are not associated with worse outcomes when adjusted by other covariates, but they do have higher 30-day mortality if occurring earlier than 30 days from the index (P < 0.001). Patients operated in later years were found to have significantly lower survival at a distance from index. The observed historical rise in mortality for shunt operations relates to complex factors including changing practice for repair of ToF and for univentricular palliation. PA and SV patients are the groups of patients at the highest risk of death. Small size, shunt type and underlying anatomical defect are the main determinants of outcomes. Trends in indication and mortality seem to indicate that more severely ill patients benefit from shunting, but with an increase in mortality. © The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  16. Effect of exercise training on sports enjoyment and leisure-time spending in adolescents with complex congenital heart disease: the moderating effect of health behavior and disease knowledge.

    Science.gov (United States)

    Dulfer, Karolijn; Duppen, Nienke; Blom, Nico A; van Dijk, Arie P J; Helbing, Wim A; Verhulst, Frank C; Utens, Elisabeth M W J

    2014-01-01

    The aim of this study was to evaluate the effects of a standardized exercise program on sports enjoyment and leisure-time spending in adolescents with congenital heart disease and to know what the moderating impact of their baseline health behavior and disease knowledge is. Included were 93 patients, aged 10 to 25, with surgical repair for tetralogy of Fallot or with a Fontan circulation for single-ventricle physiology, of 5 participating centers of pediatric cardiology in The Netherlands. They were randomly allocated, stratified for age, gender, and type of congenital heart disease to a 12-week period with either: (1) three times per week standardized exercise training or (2) care as usual (randomization ratio 2:1). At baseline and after 12 weeks, participants completed Web-based questionnaires and were interviewed by phone. Primary analyses tested changes from baseline to follow-up in sports enjoyment and leisure-time spending in the exercise group vs. control group. Secondary analyses concerned the moderating influence of baseline health behavior and disease knowledge on changes from baseline to follow-up, and comparison with normative data. At follow-up, the exercise group reported a decrease in passive leisure-time spending (watching television and computer usage) compared with controls. Exercise training had no effect on sports enjoyment and active leisure-time spending. Disease knowledge had a moderating effect on improvement in sports enjoyment, whereas health behavior did not. Compared with normative data, patients obtained similar leisure time scores and lower frequencies as to drinking alcohol and smoking. Exercise training decreased passive, but not active, leisure-time spending. It did not influence sports enjoyment. © 2013 Wiley Periodicals, Inc.

  17. Phenotypic consequences of a mosaic marker chromosome identified by fluorescence in situ hybridization (FISH) as being derived from chromosome 16

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    Ray, J.H.; Zhou, X.; Pletcher, B.A. [Cornell Univ. Medical College, Manhasset, NY (United States)] [and others

    1994-09-01

    De novo marker chromosomes are detected in 1 in 2500 amniotic fluid samples and are associated with a 10-15% risk for phenotypic abnormality. FISH can be utilized as a research tool to identify the origins of marker chromosomes. The phenotypic consequences of a marker chromosome derived from the short arm of chromosome 16 are described. A 26-year-old woman underwent amniocentesis at 28 weeks gestation because of a prenatally diagnosed tetralogy of Fallot. Follow-up ultrasounds also showed ventriculomegaly and cleft lip and palate. 32 of 45 cells had the karyotype 47,XY,+mar; the remaining cells were 46,XY. The de novo marker chromosome was C-band positive and non-satellited and failed to stain with distamycin A/DAPI. At birth the ultrasound findings were confirmed and dysmorphic features and cryptorchidism were noted. Although a newborn blood sample contained only normal cells, mosaicism was confirmed in 2 skin biopsies. FISH using whole-chromosome painting and alpha-satellite DNA probes showed that the marker chromosome had originated from chromosome 16. As proximal 16q is distamycin A/DAPI positive, the marker is apparently derived from proximal 16p. At 15 months of age, this child is hypotonic, globally delayed and is gavage-fed. His physical examination is significant for microbrachycephaly, a round face, sparse scalp hair, ocular hypertelorism, exotropia, a flat, wide nasal bridge and tip, mild micrognathia, and tapered fingers with lymphedema of hands and feet. Inguinal hernias have been repaired. His features are consistent with those described for patients trisomic for most or all of the short arm of chromosome 16. Marker chromosomes derived from the short arm of chromosome 16 appear to have phenotypic consequences. As the origin of more marker chromosomes are identified using FISH, their karyotype/phenotype correlations will become more apparent, which will permit more accurate genetic counseling.

  18. The Society of Thoracic Surgeons Congenital Heart Surgery Database: 2017 Update on Outcomes and Quality.

    Science.gov (United States)

    Jacobs, Jeffrey P; Mayer, John E; Mavroudis, Constantine; O'Brien, Sean M; Austin, Erle H; Pasquali, Sara K; Hill, Kevin D; Overman, David M; St Louis, James D; Karamlou, Tara; Pizarro, Christian; Hirsch-Romano, Jennifer C; McDonald, Donna; Han, Jane M; Becker, Susan; Tchervenkov, Christo I; Lacour-Gayet, Francois; Backer, Carl L; Fraser, Charles D; Tweddell, James S; Elliott, Martin J; Walters, Hal; Jonas, Richard A; Prager, Richard L; Shahian, David M; Jacobs, Marshall L

    2017-03-01

    The Society of Thoracic Surgeons Congenital Heart Surgery Database is the largest congenital and pediatric cardiac surgical clinical data registry in the world. It is the platform for all activities of The Society of Thoracic Surgeons related to the analysis of outcomes and the improvement of quality in this subspecialty. This report summarizes current aggregate national outcomes in congenital and pediatric cardiac surgery and reviews related activities in the areas of quality measurement, performance improvement, and transparency. The reported data about aggregate national outcomes are exemplified by an analysis of 10 benchmark operations performed from January 2012 to December 2015. This analysis documents the overall aggregate operative mortality (interquartile range among all participating programs) for the following procedural groups: off-bypass coarctation repair, 1.3% (0.0% to 1.8%); ventricular septal defect repair, 0.6% (0.0% to 0.9%); tetralogy of Fallot repair, 1.1% (0.0% to 1.4%); complete atrioventricular canal repair, 3.0% (0.0% to 4.7%); arterial switch operation, 2.7% (0.0% to 4.1%); arterial switch operation and ventricular septal defect repair, 5.3% (0.0% to 6.7%); Glenn/hemi-Fontan, 2.5% (0.0% to 4.5%); Fontan operation, 1.2% (0.0% to 1.2%); truncus arteriosus repair, 9.4% (0.0% to 16.7%); and Norwood procedure, 15.7% (8.9% to 25.0%). Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  19. Outcome and performance of bioprosthetic pulmonary valve replacement in patients with congenital heart disease.

    Science.gov (United States)

    Nomoto, Rio; Sleeper, Lynn A; Borisuk, Michele J; Bergerson, Lisa; Pigula, Frank A; Emani, Sitaram; Fynn-Thompson, Francis; Mayer, John E; Del Nido, Pedro J; Baird, Christopher W

    2016-11-01

    The goal of this single-center series was to assess differences in reintervention by the type of valve used for surgical bioprosthetic pulmonary valve replacement and to identify independent predictors of reintervention. Data were retrospectively collected for 611 patients undergoing pulmonary valve replacement from 1996 to 2014. Kaplan-Meier estimation and Cox proportional hazards regression methodologies were used. The median age of patients was 17.8 years (interquartile range, 11.9-27.3). The diagnosis was tetralogy of Fallot in 69% of patients. The median follow-up was 3.0 years (interquartile range, 1.1-5.3). Valve types included Sorin Mitroflow (Milan, Italy), 316 (50%; median age 16.5 years); Carpentier-Edwards (Irvine, Calif) Magna/MagnaEase, 223 (35%; median age, 19.3 years); and Carpentier-Edwards Perimount, 72 (11%; median age, 21.9 years). Reintervention occurred in 6.7% of patients (41/633) and was higher in children than adults (hazard ratio, 4.8). Age-adjusted 5-year reintervention rates were Sorin Mitroflow, 13.4%; Carpentier-Edwards Magna/MagnaEase, 2.1%; and Carpentier-Edwards Perimount, 0%. Reintervention was not associated with gender, valve insertion method, or concurrent procedures. The only independent risk factor for reintervention after controlling for age was valve type (P types (hazard ratios both >7, each P type did not depend on age (interaction P = .61). Bioprosthetic pulmonary valve replacement in patients with congenital heart disease has excellent short-term outcomes, but children have an approximately 5-fold greater risk of reintervention than adults. Independently of age, reintervention rates vary by valve type. These differences may be important in valve selection and follow-up. Copyright © 2016. Published by Elsevier Inc.

  20. KinCor, a national registry for paediatric patients with congenital and other types of heart disease in the Netherlands: aims, design and interim results.

    Science.gov (United States)

    Silva, L M; Kuipers, I M; van den Heuvel, F; Mendes, R; Berger, R M F; van Beynum, I M; Rozendaal, L; Rammeloo, L A J; van Iperen, G G; Schokking, M; Frerich, S; Blom, N A; Breur, J M P J; Helbing, W A

    2016-11-01

    Studies in children with heart disease have been hampered by a lack of easily identifiable patient groups. Currently, there are few prospective population-based registries covering the entire spectrum of heart disease in children. KinCor is a Dutch national registry for children with heart diseases. This paper presents the aims, design and interim results of the KinCor project. All children presenting at a Dutch university medical centre with a diagnosis of heart disease from 2012 onwards were eligible for registration in the KinCor database. Data entry is through a web-based portal. Entry codes have been synchronised with the European Paediatric Cardiac Coding system, allowing coupling with similar databases for adults, such as CONCOR. Between June 2012 and July 2015, 8421 patients were registered (76 % of those eligible). Median age of the patients was 9.8 years, 44.7 % were female; 6782 patients had morphological congenital heart disease. The most prevalent morphological congenital heart defects were ventricular septal defects (18 %), Tetralogy of Fallot (10 %) and transposition of great arteries (9 %). For 42 % of the patients additional diagnoses were registered. Sixty percent of patients had undergone at least one intervention (catheter intervention or surgery). The KinCor database has developed into a large registry of data of children with all types of heart disease and continues to grow. This database will provide the opportunity for epidemiological research projects on congenital and other types of heart disease in children. Entry codes are shared with the CONCOR database, which may provide a unique dataset.

  1. Cardiovascular magnetic resonance tagging of the right ventricular free wall for the assessment of long axis myocardial function in congenital heart disease

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    Chen Sylvia SM

    2011-12-01

    Full Text Available Abstract Background Right ventricular ejection fraction (RV-EF has traditionally been used to measure and compare RV function serially over time, but may be a relatively insensitive marker of change in RV myocardial contractile function. We developed a cardiovascular magnetic resonance (CMR tagging-based technique with a view to rapid and reproducible measurement of RV long axis function and applied it in patients with congenital heart disease. Methods We studied 84 patients: 56 with repaired Tetralogy of Fallot (rTOF; 28 with atrial septal defect (ASD: 13 with and 15 without pulmonary hypertension (RV pressure > 40 mmHG by echocardiography. For comparison, 20 healthy controls were studied. CMR acquisitions included an anatomically defined four chamber cine followed by a cine gradient echo-planar sequence in the same plane with a labelling pre-pulse giving a tag line across the basal myocardium. RV tag displacement was measured with automated registration and tracking of the tag line together with standard measurement of RV-EF. Results Mean RV displacement was higher in the control (26 ± 3 mm than in rTOF (16 ± 4 mm and ASD with pulmonary hypertension (18 ± 3 mm groups, but lower than in the ASD group without (30 ± 4 mm, P Conclusions Measurements of RV long axis displacement by CMR tagging showed more differences between the groups studied than did RV-EF, and was reproducible, quick and easy to apply. Further work is needed to assess its potential use for the detection of longitudinal changes in RV myocardial function.

  2. Health related quality of life after corrective surgery for congenital heart disease.

    Science.gov (United States)

    Heusch, A; Calaminus, G; Kahl, J; Schmidt, K

    2014-09-01

    After corrective surgery for congenital heart defects (CHD) many patients suffer from residual defects, some with reduced cardiorespiratory capacity and possible impairment of their health related quality of life (HRQoL). The aim of our study is to evaluate, how children after surgery for CHD rate their HRQoL. A standardised questionnaire deve-loped for self-rating in children between 8 and 18 years and dealing with 7 different domains concerning the HRQoL (friends, family, physical functioning, cognition, body image, emotional function and autonomy) was independently answered from patients and their parents during an outpatient visit at their pediatric cardiologist throughout Germany. 173 patients (40% female, 60% male, mean age 11.6 years) were interviewed, 167 questionnaires could be evaluated. The mean time interval after surgery was 9.8±3.4 years. Patient had had surgery for complete different types of CHD (ventricular septal defects n=50, Tetralogy of Fallot n=51, univentricular heart n=26, transposition of great arteries n=40). The results were compared with those of an age-matched control group (n=169). Patients with CHD reported a better HRQoL than the controls for all items (pcongenital heart defects are able to develop coping structures, that enable them to live a normal life from their individual point of view. Integration in psychosocial structures seems to be rather normal when compared to healthy controls. Many patients considered their HRQoL as even better. © Georg Thieme Verlag KG Stuttgart · New York.

  3. Outcome of Systemic-to-Pulmonary Shunts in Cyanotic Congenital Heart Disease- A 9-year Experience

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    Hashemzadeh Khosro

    2009-05-01

    Full Text Available The aim of this study is to evaluate early and late results of surgery in children with congenital heart disease and decreased pulmonary blood flow, who underwent a palliative systemic-to-pulmonary shunt. During the past 9 years, 157 systemic-to-pulmonary artery shunts were performed in 130 patients (69 males, 61 females with ages from 1 day to 31 years old. They had been evaluated for their clinical effectiveness, the need for a repeat operation and the mortality and morbidity. There were 101 (77.7% modified Blalock-Tausig (BT shunts, 19 (14.6% modified Waterston shunts, 8 (6.2% Central shunts, 1 Waterston shunt, and 1 Glenn shunt created throughout the study. Tetralogy of Fallot comprised the majority of cases (113; 86.9% while the remaining 17 (13.1% included transposition of the great arteries with pulmonary stenosis, tricuspid atresia, pulmonary atresia, atrioventricular septal defect (canal with pulmonary stenosis, and univentricular heart complex. Early mortality was 12.3% (16 patients. Second shunts were created in 25 (19.2% patients. Forty patients (30.8% have undergone subsequent intracardiac repair 37.7 ± 17.8 months after original shunt procedure. There were four (3% late deaths. Follow-up was achieved in 105 of 114 early survivors for a pe-riod of 3 to 117 months (mean 31.7 ± 19.4 months. Modified BT shunt was performed most frequently in our service; it was associated with less closure and mortality than other types of shunt and had excellent clinical palliation and patency rates.

  4. Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci.

    Science.gov (United States)

    Flaquer, Antònia; Baumbach, Clemens; Piñero, Estefania; García Algas, Fernando; de la Fuente Sanchez, María Angeles; Rosell, Jordi; Toquero, Jorge; Alonso-Pulpon, Luis; Garcia-Pavia, Pablo; Strauch, Konstantin; Heine-Suñer, Damian

    2013-05-24

    Congenital heart defects (CHD) is the most common cause of death from a congenital structure abnormality in newborns and is often associated with fetal loss. There are many types of CHD. Human genetic studies have identified genes that are responsible for the inheritance of a particular type of CHD and for some types of CHD previously thought to be sporadic. However, occasionally different members of the same family might have anatomically distinct defects - for instance, one member with atrial septal defect, one with tetralogy of Fallot, and one with ventricular septal defect. Our objective is to identify susceptibility loci for CHD in families affected by distinct defects. The occurrence of these apparently discordant clinical phenotypes within one family might hint at a genetic framework common to most types of CHD. We performed a genome-wide linkage analysis using MOD score analysis in families with diverse CHD. Significant linkage was obtained in two regions, at chromosome 15 (15q26.3, P(empirical) = 0.0004) and at chromosome 18 (18q21.2, P(empirical) = 0.0005). In these two novel regions four candidate genes are located: SELS, SNRPA1, and PCSK6 on 15q26.3, and TCF4 on 18q21.2. The new loci reported here have not previously been described in connection with CHD. Although further studies in other cohorts are needed to confirm these findings, the results presented here together with recent insight into how the heart normally develops will improve the understanding of CHD.

  5. Successful treatment of 54 patients with acute renal failure after cardiac surgery

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    Lei CHEN

    2015-06-01

    Full Text Available Objectives To evaluate the result of treatment of acute renal failure (ARF in patients after cardiac surgery. Methods The clinical data of 54 cases admitted to the hospital from Jan. 2004 to Jan. 2014 and suffered from ARF after cardiac surgery were retrospectively analyzed. Among 54 cases, there were 35 males and 19 females, aged from one month to 79 years with a median of 52 years. The surgical procedures included coronary artery bypass grafting (CABG, 10 cases, valve surgery (22 cases, combined CABG and valve surgery (4 cases, operation on aorta (14 case, and radical correction of Fallot tetralogy (4 cases. After the operations mentioned above, 50 patients received continuous renal replacement therapy (CRRT, and 4 patients received peritoneal dialysis. Results Nine patients died, the mortality rate was 16.7%. Exploratory hemostasis by thoracotomy was performed in 8 patients, and extubation failure occurred in 4 cases. Of the 9 non-survivors, 6 died from multiple organ failure (MOF, 2 died from cerebral hemorrhage, and one died from acute respiratory failure. Serum creatinine (SCr and blood urea nitrogen (BUN levels declined obviously after CRRT and peritoneal dialysis (P<0.05, and all the patients were shown to have stable hemodynamics in the course of treatment, and no hemorrhage or embolism occurred. Conclusions ARF after cardiac surgery should be detected early and treated in time. CRRT and peritoneal dialysis are safe, convenient and effective procedures, and may decrease the mortality rate in patients with ARF after cardiac surgery. DOI: 10.11855/j.issn.0557-7402.2015.04.13

  6. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

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    Marcília S. Grassi

    2014-11-01

    Full Text Available Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS in patients with congenital heart disease (CHD. Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18 and/or MLPA (n = 42, in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%. Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60% and/or elongated nose (53.3%, narrow palpebral fissure (50%, dysplastic, overfolded ears (48.3%, thin lips (41.6%, elongated fingers (38.3% and short stature (36.6%. Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

  7. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    Energy Technology Data Exchange (ETDEWEB)

    Grassi, Marcília S., E-mail: marcilia.grassi@hc.fm.usp.br; Jacob, Cristina M. A. [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil); Kulikowski, Leslie D. [Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Pastorino, Antonio C. [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil); Dutra, Roberta L. [Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Miura, Nana; Jatene, Marcelo B. [Instituto do Coração - HC-FMUSP, São Paulo, SP (Brazil); Pegler, Stephanie P.; Kim, Chong A.; Carneiro-Sampaio, Magda [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil)

    2014-11-15

    To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

  8. Haemodynamic consequences of targeted single- and dual-site right ventricular pacing in adults with congenital heart disease undergoing surgical pulmonary valve replacement

    Science.gov (United States)

    Plymen, Carla M.; Finlay, Malcolm; Tsang, Victor; O'leary, Justin; Picaut, Nathalie; Cullen, Shay; Walker, Fiona; Deanfield, John E; Hsia, T.Y.; Bolger, Aidan P.; Lambiase, Pier D.

    2015-01-01

    Aims The purpose of this study was to create an epicardial electroanatomic map of the right ventricle (RV) and then apply post-operative-targeted single- and dual-site RV temporary pacing with measurement of haemodynamic parameters. Cardiac resynchronization therapy is an established treatment for symptomatic left ventricular (LV) dysfunction. In congenital heart disease, RV dysfunction is a common cause of morbidity—little is known regarding the potential benefits of CRT in this setting. Methods and results Sixteen adults (age = 32 ± 8 years; 6 M, 10 F) with right bundle branch block (RBBB) and repaired tetralogy of Fallot (n = 8) or corrected congenital pulmonary stenosis (n = 8) undergoing surgical pulmonary valve replacement (PVR) for pulmonary regurgitation underwent epicardial RV mapping and haemodynamic assessment of random pacing configurations including the site of latest RV activation. The pre-operative pulmonary regurgitant fraction was 49 ± 10%; mean LV end-diastolic volume (EDV) 85 ± 19 mL/min/m2 and RVEDV 183 ± 89 mL/min/m2 on cardiac magnetic resonance imaging. The mean pre-operative QRS duration is 136 ± 26 ms. The commonest site of latest activation was the RV free wall and DDD pacing here alone or combined with RV apical pacing resulted in significant increases in cardiac output (CO) vs. AAI pacing (P < 0.01 all measures). DDDRV alternative site pacing significantly improved CO by 16% vs. AAI (P = 0.018), and 8.5% vs. DDDRV apical pacing (P = 0.02). Conclusion Single-site RV pacing targeted to the region of latest activation in patients with RBBB undergoing PVR induces acute improvements in haemodynamics and supports the concept of ‘RV CRT’. Targeted pacing in such patients has therapeutic potential both post-operatively and in the long term. PMID:25371427

  9. Abnormal right ventricular tissue velocities after repair of congenital heart disease--implications for late outcomes.

    Science.gov (United States)

    Puranik, Rajesh; Greaves, Kim; Hawker, Richard E; Pressley, Lynne A; Robinson, Peter J; Celermajer, David S

    2007-08-01

    Although repair of Tetralogy of Fallot (TOF) and transposition of the great arteries (TGA) has facilitated survival into adulthood, many survivors have residual haemodynamic abnormalities, including exercise intolerance and late right ventricular (RV) failure. We studied 40 asymptomatic adult subjects (31.3+/-1.5 years) after congenital heart disease (CHD) surgery during childhood, using tissue Doppler echocardiography (TDE). We compared systolic (S') and diastolic (E' for early filling) RV and LV velocities, with 40 age matched controls (29.5+/-1.0 years). Both RV S' and E' velocities were significantly slower in the CHD group compared to controls (6.3+/-0.4 cm/s vs. 9.3+/-0.3 cm/s; 8.5+/-0.5 cm/s vs. 10.9+/-0.4 cm/s, respectively, p<0.001 for both). By contrast, LV S' and E' velocities were similar in both groups. Interestingly, in 50% of CHD subjects where RV function was reported as 'normal', both RV S' and E' velocities were significantly slower compared with controls (6.5+/-0.6 cm/s vs. 9.3+/-0.3 cm/s, p<0.0001 and 9.4+/-0.7 cm/s vs. 10.9+/-0.4 cm/s, p<0.05 respectively). RV S' and E' velocities are frequently abnormal in asymptomatic survivors of TOF and TGA repair, even where RV function appears 'normal'. Hence TDE during follow up may be a sensitive means of detecting pre-clinical abnormalities in RV performance.

  10. Development and Validation of a Risk Stratification Score for Children With Congenital Heart Disease Undergoing Noncardiac Surgery.

    Science.gov (United States)

    Faraoni, David; Vo, Daniel; Nasr, Viviane G; DiNardo, James A

    2016-10-01

    Children with major and severe congenital heart disease (CHD) undergoing noncardiac surgery are at increased risk of mortality. The objective of this study was to identify the predictors for in-hospital mortality, and to develop a risk stratification score that could be used to help decision making and the development of perioperative management guidelines. We included all children with major (eg, tetralogy of Fallot with wide open pulmonary insufficiency, hypoplastic left heart syndrome including stage 1 repair) or severe CHD (eg, children with uncorrected CHD, children with documented pulmonary hypertension, children with ventricular dysfunction requiring medications, or children listed for heart transplant) recorded in the 2012 and 2013 American College of Surgeons National Surgical Quality Improvement Program Pediatric databases in a derivation cohort, and those recorded in the 2014 database in a validation cohort. The primary outcome variable for our analysis was the incidence of in-hospital mortality. We used univariable and multivariable logistic regression to determine the preoperative predictors for in-hospital mortality and designed the risk stratification score. Among the 183,423 children included in the 2012, 2013, and 2014 American College of Surgeons National Surgical Quality Improvement Program database, we included 4375 children with major or severe CHD in the derivation cohort (mortality: 4.7% [204/4375]) and 2869 in the validation cohort (morality: 4.0% [115/2869]). Eight preoperative predictors were retained in the final multivariable logistic regression model: emergency procedure (odds ratio [OR]: 1.66, 95% confidence interval [CI]: 1.19-2.31, P = .003), severe CHD (OR: 1.65, 95% CI: 1.15-2.39, P = .007), single-ventricle physiology (OR: 1.83, 95% CI: 1.10-3.06, P = .020), previous surgery within 30 days (OR: 2.01, 95% CI: 1.40-2.89, P heart disease (eg, severe CHD) are strong predictors of in-hospital mortality in children undergoing noncardiac

  11. Outcomes of mechanical valves in the pulmonic position in patients with congenital heart disease over a 20-year period.

    Science.gov (United States)

    Shin, Hong Ju; Kim, Young-Hwue; Ko, Jae-Kon; Park, In-Sook; Seo, Dong Man

    2013-04-01

    Homografts or bioprosthetic valves have been preferred in the pulmonic position in patients with congenital heart disease. However, unsatisfactory long-term results have aroused interest in the use of mechanical valves. In this study, we investigated the long-term outcomes of mechanical valves implanted in the pulmonic position. The medical records of 37 patients (27 male, 73%) who underwent 38 mechanical pulmonary valve replacements between October 1988 and February 2011 were reviewed, retrospectively. The median age of patients was 13.5 years (range, 7 months to 23 years), and the median number of prior operations per patient was 2 (range, 0 to 5). Tetralogy of Fallot was the most common diagnosis (n=23). The median valve size was 23 mm (range, 17 to 27 mm), and the median follow-up duration after pulmonary valve replacement was 24.6 months (range, 1.3 months to 22.5 years). Events were defined as the following: valve failure, thrombosis, embolism, bleeding, reoperation, and death. There was no in-hospital mortality, but there were 2 late deaths (1 heart failure and 1 traffic accident at 10.8 months and 8.7 years postoperatively, respectively). Excluding the traffic accident death, survival rates were 97%, 97%, and 97%, at 1, 5, and 10 years, respectively. Freedom from thromboembolism or bleeding events was 92%, 92%, and 78.8%, at 1, 5 and 10 years, respectively. Two reoperations were performed at 6.8 and 10.2 years postoperatively. Freedom from reoperation was 100%, 100%, and 85.7%, at 1, 5, and 10 years, respectively. Durability of mechanical valve in pulmonic position was excellent. Thromboembolism or bleeding events due to anticoagulation therapy were rare. In growing patients who have undergone prior sternotomies requiring a pulmonary valve replacement, a mechanical valve could be an attractive option. Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  12. Factors Associated with the Need for, and the Impact of, Extracorporeal Membrane Oxygenation in Children with Congenital Heart Disease during Admissions for Cardiac Surgery

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    Salvatore Aiello

    2017-11-01

    Full Text Available Introduction: This study aimed to determine factors associated with the need for extracorporeal membrane oxygenation (ECMO in children with congenital heart disease (CHD during admission for cardiac surgery (CS. A secondary aim was to determine how ECMO impacted length, cost, and mortality of the admission. Methods: Data from the Kids’ Inpatient Database (KIDS were utilized. Admissions with CHD under 18 years of age with cardiac surgery were included. Need for ECMO in these admissions was then identified. Univariate analysis was conducted to compare characteristics between admissions with and without ECMO. Regression analyses were conducted to determine what factors were independently associated with ECMO and whether ECMO independently impacted admission characteristics. Results: A total of 46,176 admissions with CHD and CS were included in the final analysis. Of these, 798 (1.7% required ECMO. Median age of ECMO admissions was 0.5 years. The following were associated with ECMO: decreased age, heart failure, acute kidney injury, arrhythmia, double outlet right ventricle, atrioventricular septal defect, transposition, Ebstein anomaly, hypoplastic left heart syndrome, common arterial trunk, tetralogy of Fallot, coronary anomaly, valvuloplasty, repair of total anomalous pulmonary venous connection, arterial switch, RV to PA conduit placement, and heart transplant (p < 0.01. ECMO independently increased length of stay by 17.8 days, cost of stay by approximately $415,917, and inpatient mortality 22-fold. Conclusion: Only a small proportion of CHD patients undergoing CS require ECMO, although these patients require increased resource utilization and have high mortality. Specific cardiac lesions, cardiac surgeries, and comorbidities are associated with increased need for ECMO.

  13. 3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

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    Vergaelen, Elfi; Swillen, Ann; Van Esch, Hilde; Claes, Stephan; Van Goethem, Gert; Devriendt, Koenraad

    2015-04-01

    In this case report, we present a paternal transmission of a classic 3 Mb 22q11.2 deletion syndrome (22q11.2 DS) in a 3 generation family. In this family a young girl, her father, her uncle and her grandfather were diagnosed with this disorder. All carriers showed phenotypic expression, there were no unaffected siblings in the second or third generation. Presenting symptoms in the patient in first generation (grandfather) were psoriatic arthritis, thrombocytopenia and a right aortic arch. There was no intellectual disability. The second generation uncle was known with a severe intellectual disability, mild facial characteristics, a septal defect and a clubfoot, whereas the second generation father had a tetralogy of Fallot, no intellectual disability and minimal facial characteristics. The third generation daughter had a moderate intellectual disability, hypernasal speech, triphalangeal thumb, severe speech and language development delay, pronounced facial characteristics and a diagnosis of ADHD. It was notable that the expression in the two brothers of the second generation gives two very different clinical phenotypes with a severe intellectual disability in the oldest brother. This report describes a pronounced clinical variability in a 3 generation familial 22q11.2 deletion with paternal transmission. We can assume that several mechanisms play an important role in the heterogeneity and part of the answer should be found in the genetic background underlying the 22q11.2 deletion. In addition in this family the neuropsychiatric phenotype and intellectual disability seem to be associated with a lower level of social and occupational functioning while a congenital heart disease does not. This clinical report illustrates that a detailed description of these patients can be very informative and still increase the knowledge on this heterogeneous syndrome. For the clinicians working with these patients it emphasizes the need for a multidisciplinary approach that takes

  14. A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.

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    Firoz Abdul Samad

    Full Text Available Congenital heart defects (CHD presented as structural defects in the heart and blood vessels during birth contribute an important cause of childhood morbidity and mortality worldwide. Many Single nucletotide polymorphisms (SNPs in different genes have been associated with various types of congenital heart defects. NKX 2-5 gene is one among them, which encodes a homeobox-containing transcription factor that plays a crucial role during the initial phases of heart formation and development. Mutations in this gene could cause different types of congenital heart defects, including Atrial septal defect (ASD, Atrial ventricular block (AVB, Tetralogy of fallot and ventricular septal defect. This highlights the importance of studying the impact of different SNPs found within this gene that might cause structural and functional modification of its encoded protein. In this study, we retrieved SNPs from the database (dbSNP, followed by identification of potentially deleterious Non-synonymous single nucleotide polymorphisms (nsSNPs and prediction of their effect on proteins by computational screening using SIFT and Polyphen. Furthermore, we have carried out molecular dynamic simulation (MDS in order to uncover the SNPs that would cause the most structural damage to the protein altering its biological function. The most important SNP that was found using our approach was rs137852685 R161P, which was predicted to cause the most damage to the structural features of the protein. Mapping nsSNPs in genes such as NKX 2-5 would provide valuable information about individuals carrying these polymorphisms, where such variations could be used as diagnostic markers.

  15. A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.

    Science.gov (United States)

    Abdul Samad, Firoz; Suliman, Bandar A; Basha, Syed Hussain; Manivasagam, Thamilarasan; Essa, Musthafa Mohamed

    2016-01-01

    Congenital heart defects (CHD) presented as structural defects in the heart and blood vessels during birth contribute an important cause of childhood morbidity and mortality worldwide. Many Single nucletotide polymorphisms (SNPs) in different genes have been associated with various types of congenital heart defects. NKX 2-5 gene is one among them, which encodes a homeobox-containing transcription factor that plays a crucial role during the initial phases of heart formation and development. Mutations in this gene could cause different types of congenital heart defects, including Atrial septal defect (ASD), Atrial ventricular block (AVB), Tetralogy of fallot and ventricular septal defect. This highlights the importance of studying the impact of different SNPs found within this gene that might cause structural and functional modification of its encoded protein. In this study, we retrieved SNPs from the database (dbSNP), followed by identification of potentially deleterious Non-synonymous single nucleotide polymorphisms (nsSNPs) and prediction of their effect on proteins by computational screening using SIFT and Polyphen. Furthermore, we have carried out molecular dynamic simulation (MDS) in order to uncover the SNPs that would cause the most structural damage to the protein altering its biological function. The most important SNP that was found using our approach was rs137852685 R161P, which was predicted to cause the most damage to the structural features of the protein. Mapping nsSNPs in genes such as NKX 2-5 would provide valuable information about individuals carrying these polymorphisms, where such variations could be used as diagnostic markers.

  16. Lower rate of selected congenital heart defects with better maternal diet quality: a population-based study.

    Science.gov (United States)

    Botto, Lorenzo D; Krikov, Sergey; Carmichael, Suzan L; Munger, Ronald G; Shaw, Gary M; Feldkamp, Marcia L

    2016-01-01

    To evaluate whether better diet quality in mothers is associated with lower risk for major non-syndromic congenital heart defects in their children. Multicentre population-based case-control study, the National Birth Defects Prevention Study. Ten sites in the USA. Mothers of babies with major non-syndromic congenital heart defects (n=9885) and mothers with unaffected babies (n=9468) with estimated date of delivery from 1997 to 2009. Adjusted ORs for specific major congenital heart defects by quartiles of maternal diet quality in the year before pregnancy, assessed by the Diet Quality Index for pregnancy (DQI-P) and the Mediterranean Diet Score. Quartile 1 (Q1) reflecting the worst diet quality and Q4 the best diet quality. Better diet quality was associated with reduced risk for some conotruncal and atrial septal heart defects. For DQI-P, estimated risks reductions (Q4 vs Q1) for conotruncal defects were 37% for tetralogy of Fallot (OR 0.63, 95% CI 0.49 to 0.80) and 24% overall (OR 0.76, 95% CI 0.64 to 0.91); and for septal defects, 23% for atrial septal defects (OR 0.77, 95% CI 0.63 to 0.94) and 14% overall (OR 0.86, 95% CI 0.75 to 1.00). Risk reductions were weaker or minimal for most other major congenital heart defects. Better diet quality is associated with a reduced occurrence of some conotruncal and septal heart defects. This finding suggests that a reduction in certain cardiac malformations may be an additional benefit of improved maternal diet quality, reinforcing current preconception care recommendations. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  17. Conventional and right-sided screening for subcutaneous ICD in a population with congenital heart disease at high risk of sudden cardiac death.

    Science.gov (United States)

    Alonso, Pau; Osca, Joaquín; Rueda, Joaquín; Cano, Oscar; Pimenta, Pedro; Andres, Ana; Sancho, María José; Martinez, Luis

    2017-11-01

    Information regarding suitability for subcutaneous defibrillator (sICD) implantation in tetralogy of Fallot (ToF) and systemic right ventricle is scarce and needs to be further explored. The main objective of our study was to determine the proportion of patients with ToF and systemic right ventricle eligible for sICD with both, standard and right-sided screening methods. Secondary objectives were: (i) to study sICD eligibility specifically in patients at high risk of sudden cardiac death, (ii) to identify independent predictors for sICD eligibility, and (iii) to compare the proportion of eligible patients in a nonselected ICD population. We recruited 102 patients with ToF, 33 with systemic right ventricle, and 40 consecutive nonselected patients. Conventional electrocardiographic screening was performed as usual. Right-sided alternative screening was studied by positioning the left-arm and right-arm electrodes 1 cm right lateral of the xiphoid midline. The Boston Scientific ECG screening tool was utilized. In high-risk patients with ToF, eligibility was higher with right-sided screening in comparison with standard screening (61% vs. 44%; p = .018). Eligibility in high-risk right ventricle population was identical with both screening methods (77%, p = ns). The only independent predictor for sICD eligibility was QRS duration. In high-risk patients with ToF, right-sided implantation of the sICD could be an alternative to a conventional ICD. In patients with a systemic right ventricle, implantation of a sICD is an alternative to a conventional sICD. © 2017 Wiley Periodicals, Inc.

  18. Right ventricular failure secondary to chronic overload in congenital heart diseases: benefits of cell therapy using human embryonic stem cell-derived cardiac progenitors.

    Science.gov (United States)

    Lambert, Virginie; Gouadon, Elodie; Capderou, André; Le Bret, Emmanuel; Ly, Mohamed; Dinanian, Sylvie; Renaud, Jean-Francois; Pucéat, Michel; Rücker-Martin, Catherine

    2015-03-01

    Despite the increasing incidence of right ventricular (RV) failure in adult patients with congenital heart disease, current therapeutic options are still limited. By contrast to left-heart diseases, cell-based myocardial regeneration applied to the right ventricle is poorly studied, even though it may be a therapeutic solution. As human embryonic stem cell-derived cardiac progenitors seem to be good candidates owing to their proliferation capacity, our aim was to assess, in a large animal model of overloaded RV dysfunction, the feasibility and effects of such a cell therapy. Human MesP1(+)/SSEA-1(+) cardiogenic mesodermal cells were administered using multiple intramyocardial injections 4 months after a surgical procedure mimicking the repaired tetralogy of Fallot, and their effects were observed 3 months later on hemodynamic, rhythmic, and histologic parameters. All pigs (sham n = 6, treated n = 6) survived without complication, and cell therapy was clinically well tolerated. Although functional, contractility, and energetics parameters evolved similarly in both groups, benefits regarding arrhythmic susceptibility were observed in the treated group, associated with a significant decrease of peri-myocyte fibrosis (5.71% ± 2.49% vs 12.12% ± 1.85%; P cells could be detected within the myocardium. Cell therapy using intramyocardial injections of human MesP1(+)/SSEA-1(+) cardiogenic mesodermal cells seems to have benefits regarding overloaded RV tissue remodeling and arrhythmic susceptibility, but this mode of administration is not sufficient to obtain a significant improvement in RV function. Copyright © 2015 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

  19. Reparación completa quirúrgica en adultos con situación Fallot no operada o solamente paliada: ¿ficción o realidad?

    Directory of Open Access Journals (Sweden)

    M. Luz Polo López

    2016-01-01

    Conclusiones: La reparación completa del adulto con situación Fallot consigue mejoría clínica al eliminar la cianosis, cerrar los cortocircuitos intracardiacos y disminuir la sobrecarga de presión del ventrículo derecho. Esta reparación tiene resultados excelentes y permite superiores tasas de conservación del anillo pulmonar respecto a las series infantiles.

  20. 'Hair-on-end' skull changes resembling thalassemia caused by marrow expansion in uncorrected complex cyanotic heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Walor, David M.; Berdon, Walter E. [Columbia University Medical Center, Department of Radiology Children' s Hospital of New York, New York, NY (United States); Westra, Sjirk J. [Massachusetts General Hospital, Department of Radiology, Boston, MA (United States)

    2005-07-01

    ''Hair-on-end'' skull changes resembling thalassemia were rarely described in the 1950s and 1960s in children with cyanotic congenital heart diseases; these changes were described almost entirely in patients with tetralogy of Fallot or D-transposition of the great arteries. As these lesions have become correctable, the osseous changes, never common, seem now only to exist in a small number of patients with uncorrectable complex cyanotic congenital heart disease who survive in a chronic hypoxic state. We present two cases: a case of marked marrow expansion in the skull of a 5-year-old boy with uncorrectable cyanotic heart disease studied by CT, and a second case of an 8-year-old with tetralogy of Fallot and pulmonary atresia studied by plain skull radiographs. The true incidence of these findings is unknown. (orig.)

  1. Communication interauriculaire (cia) chez l'enfant au Togo: Aspects ...

    African Journals Online (AJOL)

    The CIA in our study was associated with CIV in 19.51% of cases and with the tetralogy of Fallot in 4.88%. We had found 92.68% of CIA ostium secundum. The ¾ of children had been transferred and received in majority by Swiss (70%) where surgical curative had been done (90%). The take over of the CIA in Togo is still a ...

  2. Arthrogryposis - case report

    OpenAIRE

    Mariana CEVEI; Dorina STOICANESCU

    2008-01-01

    Arthrogryposis is a congenital disorder characterized by multiple joint contractures found throughout the body at birth. We present the case of a 3.5 year-old girl with multiple congenital defects: arthrogryposis involving bilateral hip, knee and ankle joints, together with sacral agenesis and with lumbar dysmorphism, anorectal agenesis, hydronephrosis of the left kidney as the result from reflux, right kidney hypoplasia, renal fusion and heart anomalies: tetralogy of Fallot. Immediately afte...

  3. Hemadsorption with Adult CytoSorb? in a Low Weight Pediatric Case

    OpenAIRE

    Cirstoveanu, Catalin Gabriel; Barascu, Ileana; Mc Kenzie Stancu, Samantha

    2017-01-01

    Cytokine adsorber (CytoSorb) has been used successfully as adjunctive treatment for adult patients with elevated cytokine levels in the setting with severe sepsis and septic shock and to reduce blood myoglobin, unconjugated bilirubin, and conjugated bilirubin. In this article we present the case of a nine-month-old male infant who was admitted to the NICU due to sepsis after cardiac surgery, Fallot tetralogy, and multisystem organ failure (MSOF) including liver failure and renal failure which...

  4. Evaluation of Pulse Oximetry in the Early Detection of Cyanotic Congenital Heart Disease in Newborns

    Directory of Open Access Journals (Sweden)

    Amir Hosein Movahedian

    2016-10-01

    Full Text Available Background: Delayed or missed diagnosis of critical and cyanotic congenital heart disease (CHD in asymptomatic newborns may result in significant morbidity and mortality. The aim of this study was to determine the accuracy of pulse oximetry screening  performed on the first day of life for the early detection of critical and cyanotic CHD in apparently normal newborns.Methods: This cross-sectional study used postductal pulse oximetry to evaluate term neonates born between 2008 and 2011 with normal physical examinations. Functional oxygen saturation < 95% was considered abnormal, and second measurement was done 2 hours later. If the second measurement remained < 95%, an echocardiogram was performed. On enrolment in the study, the following data for each neonate were recorded: gestational age, gender, birth weight, mode of delivery, and mother’s age.Results: During the study period, totally 3,846 newborns were evaluated. Of the whole study population, 304 (7.9% babies  had a  postductal functional saturation < 95%. The second measurement was also < 95% in 104 (2.7% neonates. The mean age of the neonates at the time of pulse oximetry was 18.91 ± 8.61 (min = 4.5 and max = 49 hours. Forty-nine percent of the subjects were female and 51% were male. Echocardiography was performed on 81 out of 104 newborns, and 14 (0.36% of them had CHD. The types of CHD in our patients were tetralogy of Fallot (3 cases, transposition of the great vessels (2 cases, double-outlet right ventricle (2 cases, truncus arteriosus, total anomalous pulmonary venous return, atrioventricular septal defect, pulmonary atresia, persistent pulmonary hypertension, ventricular septal defect, and atrial septal defect (1 case for each type. The best time for pulse oximetry was within 8-24 hours of the newborns’ life.Conclusion: Pulse oximetry screening along with clinical examination may be able to assist in the early detection of critical and cyanotic CHD in asymptomatic newborns.

  5. The ratio of right ventricular volume to left ventricular volume reflects the impact of pulmonary regurgitation independently of the method of pulmonary regurgitation quantification

    Energy Technology Data Exchange (ETDEWEB)

    Śpiewak, Mateusz, E-mail: mspiewak@ikard.pl [Department of Coronary Artery Disease and Structural Heart Diseases, Institute of Cardiology, Warsaw (Poland); Cardiac Magnetic Resonance Unit, Institute of Cardiology, Warsaw (Poland); Małek, Łukasz A., E-mail: lmalek@ikard.pl [Cardiac Magnetic Resonance Unit, Institute of Cardiology, Warsaw (Poland); Department of Interventional Cardiology and Angiology, Institute of Cardiology, Warsaw (Poland); Petryka, Joanna, E-mail: joannapetryka@hotmail.com [Department of Coronary Artery Disease and Structural Heart Diseases, Institute of Cardiology, Warsaw (Poland); Cardiac Magnetic Resonance Unit, Institute of Cardiology, Warsaw (Poland); Mazurkiewicz, Łukasz, E-mail: lmazurkiewicz@ikard.pl [Cardiac Magnetic Resonance Unit, Institute of Cardiology, Warsaw (Poland); Department of Cardiomyopathy, Institute of Cardiology, Warsaw (Poland); Miłosz, Barbara, E-mail: barbara-milosz@o2.pl [Cardiac Magnetic Resonance Unit, Institute of Cardiology, Warsaw (Poland); Department of Radiology, Institute of Cardiology, Warsaw (Poland); Biernacka, Elżbieta K., E-mail: kbiernacka@ikard.pl [Department of Congenital Heart Diseases, Institute of Cardiology, Warsaw (Poland); Kowalski, Mirosław, E-mail: mkowalski@ikard.pl [Department of Congenital Heart Diseases, Institute of Cardiology, Warsaw (Poland); Hoffman, Piotr, E-mail: phoffman@ikard.pl [Department of Congenital Heart Diseases, Institute of Cardiology, Warsaw (Poland); Demkow, Marcin, E-mail: mdemkow@ikard.pl [Department of Coronary Artery Disease and Structural Heart Diseases, Institute of Cardiology, Warsaw (Poland); Miśko, Jolanta, E-mail: jmisko@wp.pl [Cardiac Magnetic Resonance Unit, Institute of Cardiology, Warsaw (Poland); Department of Radiology, Institute of Cardiology, Warsaw (Poland); Rużyłło, Witold, E-mail: wruzyllo@ikard.pl [Institute of Cardiology, Warsaw (Poland)

    2012-10-15

    Background: Previous studies have advocated quantifying pulmonary regurgitation (PR) by using PR volume (PRV) instead of commonly used PR fraction (PRF). However, physicians are not familiar with the use of PRV in clinical practice. The ratio of right ventricle (RV) volume to left ventricle volume (RV/LV) may better reflect the impact of PR on the heart than RV end-diastolic volume (RVEDV) alone. We aimed to compare the impact of PRV and PRF on RV size expressed as either the RV/LV ratio or RVEDV (mL/m{sup 2}). Methods: Consecutive patients with repaired tetralogy of Fallot were included (n = 53). PRV, PRF and ventricular volumes were measured with the use of cardiac magnetic resonance. Results: RVEDV was more closely correlated with PRV when compared with PRF (r = 0.686, p < 0.0001, and r = 0.430, p = 0.0014, respectively). On the other hand, both PRV and PRF showed a good correlation with the RV/LV ratio (r = 0.691, p < 0.0001, and r = 0.685, p < 0.0001, respectively). Receiver operating characteristic analysis showed that both measures of PR had similar ability to predict severe RV dilatation when the RV/LV ratio-based criterion was used, namely the RV/LV ratio > 2.0 [area under the curve (AUC){sub PRV} = 0.770 vs AUC{sub PRF} = 0.777, p = 0.86]. Conversely, with the use of the RVEDV-based criterion (>170 mL/m{sup 2}), PRV proved to be superior over PRF (AUC{sub PRV} = 0.770 vs AUC{sub PRF} = 0.656, p = 0.0028]. Conclusions: PRV and PRF have similar significance as measures of PR when the RV/LV ratio is used instead of RVEDV. The RV/LV ratio is a universal marker of RV dilatation independent of the method of PR quantification applied (PRF vs PRV)

  6. Cineangiographic analysis of T.O.F

    Energy Technology Data Exchange (ETDEWEB)

    Yeon, Kyung Mo; Kim, Jong Chul; Han, Man Chung [College of Medicine, Seoul National University, Seoul (Korea, Republic of)

    1985-06-15

    The total 223 cases of tetralogy of Fallot is analysed angiographically, in which selective biplane cinecardioangiography with axial projection has been done at the Department of Radiology, Seoul National University Hospital, in recent 2 year and 4 months, with specific reference to the location of pulmonic stenosis, and associated cardiac anomalies. The summary of the analysis is as follow; 1. Left ventriculogram (long axial oblique view) was necessary to detect the ventricular septal defects including anterior marginal VSD, and was helpful to identify the coronary artery anatomy and presence of PDA and evaluate the size of left ventricle. 2. Right ventriculogram (elongated RAO view) was the best projection for the demonstration of pulmonic infundibulum and was essential to differentiate and localize the ventricular septal defects. 3. In the right ventriculogram (4 chamber view), well demonstrated the right ventricular outflow tract, pulmonary valve, and pulmonary arteries (main, right, left and peripheral), and also permitted the detection of ASD in levophase. 4. The position of ventricular septal defects was perimembranous in 199 cases (89.2%), subarterial in 15 cases (6.8%), and infundibular (intracristal) in 9 cases (4%). Multiple ventricular septal defects (perimembranous and marginal) were found in 11 cases (4.5%). 5. In 35 cases (15.5%), pulmonary stenosis is found only in pulmonary infundibulum. The combination of its components was most commonly anterior wall and conus septum hypertrophy in 24 cases (68.6%). 6. Combined pulmonary stenosis was identified in 188 cases (84.3%). The most common combination was infundibular and pulmonary valvular stenosis in 56 cases (29.8%). 7. Associated cardiac anomalies were right aortic arch in 53 cases (23.8%), persistent left SVC in 17 cases (7.7%), ASD in 13 cases (5.9%), PDA in 9 cases (4,1%), aberrant subclavian artery in 5 cases (2.2%), IVC interruption with azygos continuation in 2 cases, single coronary artery in

  7. Spectrum of Congenital Heart Diseases in Eastern Nepal: A tertiary care hospital experience

    Directory of Open Access Journals (Sweden)

    Prashant Shah

    2017-01-01

    Full Text Available Background & Objectives: Congenital heart diseases are neglected especially in world’s poorest nations and appear to be ignored and unexplored dimension of health. The exact prevalence and spectrum of congenital heart diseases in Nepal is largely unknown. The aim of this study was to describe the local experience on the magnitude and the pattern of congenital heart disease in order to increase the awareness of the public and health policy makers on its burden in Nepal.Materials & Methods: This is an observational hospital based study carried out in a tertiary care hospital in Eastern Nepal. The duration of this study was from April 2015 to July 2016. The echocardiography reports of all patients clinically suspected of having congenital heart disease were retrieved, and their diagnostic details were extracted. Only patients of day one of life to 14 years of age were included. Congenital heart diseases like bicuspid aortic valve, mitral valve prolapse and various inherited cardiomyopathies were excluded.Results: A total of 330 echocardiograms were performed for clinically suspected congenital heart disease.  The mean age of study population was 22.31±34.08 months with male to female ratio of 1.2:1. 23% of clinically suspected congenital heart disease cases turned out to have normal echocardiography. Acyanotic congenital heart disease was most common (81.5% followed by cyanotic congenital heart disease (14.2% and obstructive congenital heart disease (4.3%. Atrial septal defect was found to be the most common form of acyanotic congenital heart disease (52% which was followed by ventricular septal defect (28.8% and patent ductus arteriosus (14.8%. Tetralogy of Fallot and double outlet right ventricle were the most common form of cyanotic CHD representing 44.4% of all cyanotic patients. Pulmonary stenosis was the most common obstructive congenital heart disease observed in this study population (63.6%. Rarer entities, like d-transposition of great

  8. Predictors and Frequency of Conduction Disturbances After Open-Heart Surgery

    Directory of Open Access Journals (Sweden)

    Zahra Emkanjoo

    2008-02-01

    Full Text Available Introduction The risk of developing conduction disturbances after coronary bypass grafting (CABG or valvular surgery has been well established in previous studies, leading to permanent pacemaker implantation in about 2% to 3% of patients, and in 10% of patients undergoing repeat cardiac surgery.We sought to determine the incidence, features and predictors of conduction disorders in the immediate post-operative period of patients subjected to open-heart surgery, and the need for permanent pacemaker implantation.Material and Method We prospectively studied 374 consecutive patients who underwent open-heart surgery in our institution: coronary artery bypass (CABG (n=128, Mitral valve replacement(MVR(n=18, aortic valve replacement(AVR (n=21, MVR and AVR(n=56, repair of ventricular septal defect (VSD (n=51, repair of tetralogy of Fallot (TOF (n=57,CABG and valvular surgery (n=6, others (n=37.Results Among 374 patients included in our study (mean age 34.46±25.68; 146 males, 192 developed new conduction disorders: symptomatic sinus bradycardia in 8%, atrial fibrillation with slow ventricular response (AF in 4.5%, first-degree atrioventricular block (AVBin 6.4%, second-degree AVB in 0.3%, third-degree AVB in 7%, new right bundle branch block (RBBB in 33%, and new left bundle branch block (LBBB in 2.1%. In 5.6% patients, a permanent pacemaker was implanted, 47.6% of them underwent valvular surgery. In 44.1% of patients the conduction defects occurred in the first 48 hr. after surgery. In CABG group, 29.7% of patients developed new conduction disturbances; the most common of them was symptomatic sinus bradycardia. After valvular surgery 44.2% of patients developed conduction disturbances, of those the most common was atrial fibrillation with slow ventricular response . After VSD and TOF repair, the most common conduction disturbance was new RBBB. Perioperative myocardial infarction (MI occurred in 1.9% of patients. The occurrence conduction disturbance

  9. Head growth in fetuses with isolated congenital heart defects: lack of influence of aortic arch flow and ascending aorta oxygen saturation.

    Science.gov (United States)

    Jansen, F A R; van Zwet, E W; Rijlaarsdam, M E B; Pajkrt, E; van Velzen, C L; Zuurveen, H R; Kragt, A; Bax, C L; Clur, S-A B; van Lith, J M M; Blom, N A; Haak, M C

    2016-09-01

    Congenital heart defects (CHDs) are reported to be associated with a smaller fetal head circumference (HC) and neurodevelopmental delay. Recent studies suggest that altered intrauterine brain hemodynamics may explain these findings. Our objectives were to evaluate the pattern of head growth in a large cohort of fetuses with various types of CHD, analyze these patterns according to the type of CHD and estimate the effect of cerebral hemodynamics with advancing gestation in the second and third trimesters. Singleton fetuses with an isolated CHD were selected from three fetal medicine units (n = 436). Cases with placental insufficiency or genetic syndromes were excluded. CHD types were clustered according to the flow and oxygen saturation in the aorta. Z-scores of biometric data were constructed using growth charts of a normal population. HC at different gestational ages was evaluated and univariate and multivariate mixed regression analyses were performed to examine the patterns of prenatal HC growth. Fetuses with severe and less severe types of CHD demonstrated statistically significant HC growth restriction with increasing gestational age (slope of -0.017/day); however, there was no statistically significant effect of fetal hemodynamics on HC growth. Fetuses with CHD but normal brain oxygenation and normal aortic flow showed a significant decrease in HC growth (slope of -0.024/day). Only fetuses with isolated tetralogy of Fallot demonstrated a smaller HC z-score at 20 weeks of gestation (-0.67 (95% CI, -1.16 to -0.18)). Despite the decline in head growth in fetuses with a prenatally detected isolated CHD, HC values were within the normal range, raising the question of its clinical significance. Furthermore, in contrast to other studies, this large cohort did not establish a significant correlation between aortic flow or oxygen saturation and HC growth. Factors other than altered fetal cerebral hemodynamics may contribute to HC growth restriction with increasing

  10. Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

    Science.gov (United States)

    Yau, Daphne; De Franco, Elisa; Flanagan, Sarah E; Ellard, Sian; Blumenkrantz, Miriam; Mitchell, John J

    2017-01-03

    Haploinsufficiency of the GATA6 transcription factor gene was recently found to be the most common cause of pancreatic agenesis, a rare cause of neonatal diabetes mellitus. Although most cases are de novo, we describe three siblings with inherited GATA6 haploinsufficiency and the rare finding of parental mosaicism. The proband was born at term with severe intrauterine growth restriction, the first child of non-consanguineous parents. Diabetes occurred on day of life 1 with pancreatic exocrine insufficiency noted at several months of age. Pancreatic agenesis with absent gallbladder was confirmed when he underwent congenital diaphragmatic hernia and intestinal malrotation repair. A patent ductus arteriosus and pulmonary stenosis were repaired in infancy. Neurocognitive development has been normal. A second pregnancy was terminated due to tetralogy of Fallot and pulmonary hypoplasia secondary to congenital diaphragmatic hernia. The fetus also demonstrated severe pancreatic hypoplasia, gallbladder agenesis and intestinal rotation abnormalities. Despite severe hypoplasia, the pancreas demonstrated normal islet histology. Another sibling was found to have multiple cardiac abnormalities, requiring procedural intervention. Given the proband's spectrum of congenital anomalies, Sanger sequencing of the GATA6 gene was performed, revealing a novel heterozygous c.635_660del frameshift mutation (p.Pro212fs). The mutation is predicted to be pathogenic, resulting in inclusion of a premature stop codon and likely degradation of the gene transcript by nonsense-mediated decay. The abortus and the sibling with the cardiac defect were both found to have the mutation, while the father and remaining sibling were negative. The mother, who is healthy with no evidence of diabetes or cardiac disease, is mosaic for the mutation at a level of 11% in her peripheral leukocytes by next-generation sequencing. We highlight a rare mechanism of pancreatic agenesis, this being only the second report

  11. Fetal Intelligent Navigation Echocardiography (FINE): a novel method for rapid, simple, and automatic examination of the fetal heart.

    Science.gov (United States)

    Yeo, Lami; Romero, Roberto

    2013-09-01

    To describe a novel method (Fetal Intelligent Navigation Echocardiography (FINE)) for visualization of standard fetal echocardiography views from volume datasets obtained with spatiotemporal image correlation (STIC) and application of 'intelligent navigation' technology. We developed a method to: 1) demonstrate nine cardiac diagnostic planes; and 2) spontaneously navigate the anatomy surrounding each of the nine cardiac diagnostic planes (Virtual Intelligent Sonographer Assistance (VIS-Assistance®)). The method consists of marking seven anatomical structures of the fetal heart. The following echocardiography views are then automatically generated: 1) four chamber; 2) five chamber; 3) left ventricular outflow tract; 4) short-axis view of great vessels/right ventricular outflow tract; 5) three vessels and trachea; 6) abdomen/stomach; 7) ductal arch; 8) aortic arch; and 9) superior and inferior vena cava. The FINE method was tested in a separate set of 50 STIC volumes of normal hearts (18.6-37.2 weeks of gestation), and visualization rates for fetal echocardiography views using diagnostic planes and/or VIS-Assistance® were calculated. To examine the feasibility of identifying abnormal cardiac anatomy, we tested the method in four cases with proven congenital heart defects (coarctation of aorta, tetralogy of Fallot, transposition of great vessels and pulmonary atresia with intact ventricular septum). In normal cases, the FINE method was able to generate nine fetal echocardiography views using: 1) diagnostic planes in 78-100% of cases; 2) VIS-Assistance® in 98-100% of cases; and 3) a combination of diagnostic planes and/or VIS-Assistance® in 98-100% of cases. In all four abnormal cases, the FINE method demonstrated evidence of abnormal fetal cardiac anatomy. The FINE method can be used to visualize nine standard fetal echocardiography views in normal hearts by applying 'intelligent navigation' technology to STIC volume datasets. This method can simplify

  12. Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses.

    Science.gov (United States)

    Song, M S; Hu, A; Dyamenahalli, U; Dyhamenahali, U; Chitayat, D; Winsor, E J T; Ryan, G; Smallhorn, J; Barrett, J; Yoo, S-J; Hornberger, L K

    2009-05-01

    The clinical outcome of prenatally diagnosed congenital heart defects (CHD) continues to be affected significantly by associated extracardiac and chromosomal abnormalities. We sought to: determine the frequency and type of major extracardiac abnormalities (with impact on quality of life) and chromosomal abnormalities associated with fetal CHD; and compare the extracardiac abnormalities detected prenatally to the postnatal and autopsy findings in affected fetuses, to find the incidence of extracardiac abnormalities missed on prenatal ultrasound. We reviewed the computerized database of the Division of Cardiology of the Hospital for Sick Children in Toronto to identify all cases of major CHD detected prenatally from 1990 to 2002. Medical records, fetal echocardiograms and ultrasound, cytogenetic and autopsy reports were reviewed. The types of CHD detected were grouped into categories and the frequencies of major extracardiac and chromosomal abnormalities in these categories were noted. Prenatal ultrasound findings were compared with those at autopsy or postnatal examination. Of 491 fetuses with major structural CHD, complete data were obtained for 382. Of these, there were 141 (36.9%) with major extracardiac abnormalities at autopsy or postnatal exam, of which 46 had chromosomal abnormalities and 95 did not. In the absence of chromosomal abnormalities, the organ systems most affected were urogenital (12.2%) and gastrointestinal (11.6%). CHDs with the highest incidence of extracardiac abnormalities (>25%) included: heterotaxy, single left ventricle and tricuspid atresia, hypoplastic left heart syndrome and tetralogy of Fallot. Ninety-four of 334 (28.1%) fetuses tested had chromosomal abnormalities. The most common chromosomal abnormalities were trisomies 21 (43.6%), 18 (19.1%) and 13 (9.6%), monosomy X (7.4%) and 22q11.2 deletion (7.4%). Of 289 extracardiac abnormalities from the complete series, 134 (46.4%) were not identified prenatally. Of the missed extracardiac

  13. Folic acid in pregnant women associated with reduced prevalence of severe congenital heart defects in their children: a national population-based case-control study.

    Science.gov (United States)

    Czeizel, Andrew E; Vereczkey, Attila; Szabó, István

    2015-10-01

    Previous Hungarian intervention trials have shown an association between periconceptional folic-acid-containing multivitamin supplementation and significantly reduced risk of congenital heart defects (CHDs). These findings were confirmed in observational multivitamin studies in the USA, and studies in the Netherlands and China regarding folic acid. The objective of this observational population-based study was to estimate the possible preventive effect of folic acid supplementation for different CHDs during their critical period of development. Evaluation of medically recorded use of folic acid (calculated daily average 5.6mg) during the critical period of development of eight types of CHD (verified through autopsy reports or after catheter examination and/or surgical correction) in the population-based Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA), 1980-1996, containing 22,843 cases with congenital abnormalities and 38,151 population controls without any CHDs, including 5395 matched controls of 3567 live-born cases with various CHDs. A conditional logistic regression model was used to estimate the relative risk/protection [odds ratio (OR) with 95% confidence intervals (CI)] of folic acid in the mothers of cases with various types of CHD and their matched controls. There was a significant decrease in the prevalence of cases with ventricular septal defect (OR 0.57, 95% CI 0.45-0.73), tetralogy of Fallot (OR 0.53, 95% CI 0.17-0.94), d-transposition of great arteries (OR 0.47, 95% CI 0.26-0.86) and atrial septal defect secundum (OR 0.63, 95% CI 0.40-0.98) in infants born to mothers who had taken high doses of folic acid during the critical period of CHD development. The risk of development of certain types of CHD was significantly reduced in pregnant women who were supplemented with folic acid. Thus, CHDs should be included as a secondary assessment in neural-tube-defect preventive programs. Copyright © 2015 Elsevier Ireland Ltd. All rights

  14. Objectively measured physical activity levels of young children with congenital heart disease.

    Science.gov (United States)

    Stone, Nicola; Obeid, Joyce; Dillenburg, Rejane; Milenkovic, Jovana; MacDonald, Maureen J; Timmons, Brian W

    2015-03-01

    Physical activity tends to be lower in school-age children with congenital heart disease than in healthy controls. To the best of our knowledge, objectively measured physical activity levels of preschool-age children with congenital heart disease have not been studied. A total of 10 children with either coarctation of the aorta (n=6; age 3.8±0.9) or tetralogy of Fallot (n=4, age 4.3±0.9) were recruited from the cardiology unit of McMaster Children's Hospital. Height (103.7±8.2 cm) and weight (17.3±2.7 kg) measurements were recorded, and physical activity was determined using accelerometry over 7 consecutive days. Patients were compared with age-, sex-, and season of data acquisition-matched controls. Parents completed a questionnaire regarding the child's physical activity and sedentary behaviours. Patients spent on average 219.4±39.9 minutes engaged in total physical activity per day at the following intensities: light, 147.5±22.3; moderate, 44.0±11.8; moderate-to-vigorous, 71.9±22.6; and vigorous, 27.9±11.7. No significant differences were observed between patients and controls for total physical activity (p=0.80) or any of the intensities (p=0.71, 0.46, 0.43, and 0.45, respectively). Only 40% of patients and controls met the new Canadian Physical Activity Guidelines for the Early Years of at least 180 minutes of physical activity at any intensity every day. Of the patients' parents, 90% believed that their child was as active, if not more active, than his/her siblings, and 80% of parents reported their child spending 1-3 hours in screen time activities daily. Children aged 3-5 years old with congenital heart disease have comparable physical activity levels to age-, sex-, and season-matched controls, and many do not meet Canadian Physical Activity Guidelines.

  15. Long-term follow-up of implantable cardioverter-defibrillators in adult congenital heart disease patients: indications and outcomes.

    Science.gov (United States)

    Santharam, Sandhya; Hudsmith, Lucy; Thorne, Sara; Clift, Paul; Marshall, Howard; De Bono, Joseph

    2017-03-01

    Ventricular arrhythmias are a major cause of mortality in adult congenital heart disease (ACHD) patients. The European Society of Cardiology guidelines state that implantable cardioverter-defibrillators (ICD) should be considered in patients with congenital heart disease following spontaneous sustained ventricular tachycardia (VT) or cardiac arrest and in patients at presumed high risk. This study sought to analyse the circumstances in which ACHD patients received ICD and to assess outcomes of ICD implantation, including therapies delivered and the rate of complications. A retrospective review was performed of all adult patients with congenital heart disease undergoing ICD implant between 2000 and 2014, in a large quaternary referral centre with over 4000 adults with congenital heart disease under active follow-up. Demographics: 42 patients with congenital heart disease had ICD implants: 55% male; age range 21-71 years and mean age 45 years. Mean age at implantation of ICD was 41 years. Mean follow-up was 5 years. Diagnosis: 50% of patients had repaired tetralogy of Fallot (TOF). Twelve per cent of patients had repaired transposition of the great arteries. Reason for ICD: 15 patients (35.7%) received ICD after sustained VT. Eleven patients (26.2%) received ICD after cardiac arrest. Sixteen (38%) had ICD implanted as primary prophylaxis. Outcome: Since implantation, six patients received an appropriate full-output shock for VT from ICD. Nineteen (45%) patients suffered significant complications (inappropriate shocks 11, inappropriate anti-tachycardia pacing resulting in VF 1, infection requiring extraction 3, lead abnormalities 3, and pneumothorax 1). Equal proportions of primary and secondary prevention patients received appropriate shocks. Most patients had ICD for secondary prevention (62%), and the majority had repaired TOF. There was a 2.9% annual appropriate shock rate. However, there was a high incidence of complications with more than a third suffering a

  16. Long-term outcome of speech and language in children after corrective surgery for cyanotic or acyanotic cardiac defects in infancy.

    Science.gov (United States)

    Hövels-Gürich, Hedwig H; Bauer, Sebastian B; Schnitker, Ralph; Willmes-von Hinckeldey, Klaus; Messmer, Bruno J; Seghaye, Marie-Christine; Huber, Walter

    2008-09-01

    The purpose of this prospective study was to assess whether outcome of speech and language in children 5-10 years after corrective surgery for tetralogy of Fallot (TOF) or ventricular septal defect (VSD) in infancy was influenced by the preoperative condition of hypoxemia or cardiac insufficiency and whether it was associated with perioperative risk factors and neurodevelopmental outcome. A total of 35 unselected children, 19 with TOF and hypoxemia and 16 with VSD and cardiac insufficiency, operated with combined deep hypothermic circulatory arrest and low-flow cardiopulmonary bypass at mean age 0.7+/-0.3 (mean+/-standard deviation) years, underwent, at mean age 7.4+/-1.6 years, standardized evaluation of speech and language functions. Results were compared between subgroups and related to perioperative factors, sociodemographic and neurodevelopmental status. Age at testing, socioeconomic status and history of speech and language development were not different between the subgroups. In contrast, total scores on oral and speech motor control functions (TFS) as well as on oral and speech apraxia (Mayo Test) were significantly reduced (pTest of Psycholinguistic Abilities and the test of auditory analysis skills, respectively. In all children, higher age at testing and better socioeconomic status were associated with better results in all domains of assessment (pspeech motor control functions (TFS and Mayo Test) were present in 29% of all children with a mean age of 6.5 years in contrast to 43% with normal performance and a mean age of 8.3 years. On the receptive speech tasks, only 6% scored below the normal range of their age group. TFS subscores were significantly correlated with age, bypass duration and motor function, but not correlated with socioeconomic status, duration of cardiac arrest, intelligence and academic achievement. Children with preoperative hypoxemia due to cyanotic cardiac defects in infancy are at higher risk for dysfunction in speech and language

  17. Use of a 1.0 Tesla open scanner for evaluation of pediatric and congenital heart disease: a retrospective cohort study.

    Science.gov (United States)

    Lu, Jimmy C; Nielsen, James C; Morowitz, Layne; Musani, Muzammil; Ghadimi Mahani, Maryam; Agarwal, Prachi P; Ibrahim, El-Sayed H; Dorfman, Adam L

    2015-05-25

    Open cardiovascular magnetic resonance (CMR) scanners offer the potential for imaging patients with claustrophobia or large body size, but at a lower 1.0 Tesla magnetic field. This study aimed to evaluate the efficacy of open CMR for evaluation of pediatric and congenital heart disease. This retrospective, cross-sectional study included all patients ≤18 years old or with congenital heart disease who underwent CMR on an open 1.0 Tesla scanner at two centers from 2012-2014. Indications for CMR and clinical questions were extracted from the medical record. Studies were qualitatively graded for image quality and diagnostic utility. In a subset of 25 patients, signal-to-noise (SNR) and contrast-to-noise (CNR) ratios were compared to size- and diagnosis-matched patients with CMR on a 1.5 Tesla scanner. A total of 65 patients (median 17.3 years old, 60% male) were included. Congenital heart disease was present in 32 (50%), with tetralogy of Fallot and bicuspid aortic valve the most common diagnoses. Open CMR was used due to scheduling/equipment issues in 51 (80%), claustrophobia in 7 (11%), and patient size in 3 (5%); 4 patients with claustrophobia had failed CMR on a different scanner, but completed the study on open CMR without sedation. All patients had good or excellent image quality on black blood, phase contrast, magnetic resonance angiography, and late gadolinium enhancement imaging. There was below average image quality in 3/63 (5%) patients with cine images, and 4/15 (27%) patients with coronary artery imaging. SNR and CNR were decreased in cine and magnetic resonance angiography images compared to 1.5 Tesla. The clinical question was answered adequately in all but 2 patients; 1 patient with a Fontan had artifact from an embolization coil limiting RV volume analysis, and in 1 patient the right coronary artery origin was not well seen. Open 1.0 Tesla scanners can effectively evaluate pediatric and congenital heart disease, including patients with claustrophobia

  18. Long-term early development research in congenital heart disease (LEADER-CHD): a study protocol for a prospective cohort observational study investigating the development of children after surgical correction for congenital heart defects during the first 3 years of life.

    Science.gov (United States)

    Ferentzi, Hannah; Pfitzer, Constanze; Rosenthal, Lisa-Maria; Berger, Felix; Schmitt, Katharina R L

    2017-12-28

    Congenital heart disease (CHD) is the most common birth defect. Studies on the development of children with CHD point towards deficits in motoric, cognitive and language development. However, most studies are cross-sectional and there is a gap in the knowledge concerning developmental trajectories, risk and protective factors and a lack of research concerning environmental predictors. Specifically, no studies have so far considered the importance of early caregiving experiences and child temperament for the development of children with CHD. In a single-centre prospective cohort study, cognitive, motoric and language development of 180 children after corrective surgery for a simple transposition of the great arteries (TGA), tetralogy of Fallot (TOF) or ventricular septal defect (VSD) will be assessed at ages 12, 24 and 36 months with the Bayley Scales of Infant Development 3rd Edition (BSID-III). At age 12 months, a free-play video observation will be conducted to investigate the relationship between primary caregiver and child, and child temperament will be assessed with the Infant Behavior Questionnaire-Revised Short Version. Medical information will be obtained from patient records and demographic information via questionnaires. Frequency and severity of developmental delays will be reported descriptively. Differences between groups (TGA, TOF, VSD) will be subjected to repeated-measures analysis across time points. Multiple regressions will be applied for the analysis of predictors at each time point. For the analysis of differential developmental trajectories, mixed-model analysis will be applied. The study has been approved by the local medical ethics committee. Written informed consent will be obtained from all participants. Parents have the option to be debriefed about BSID-III results after each assessment and about the study results after project completion. Results will be disseminated in peer-reviewed journals and presented at conferences. DRKS00011006

  19. Assessment of the left ventricular systolic and diastolic function by the left ventricular density curve derived from intravenous digital subtraction angiography in children

    Energy Technology Data Exchange (ETDEWEB)

    Horigome, Hitoshi; Satoh, Hideo; Isobe, Takeshi; Takita, Hitoshi (Tsukuba Univ., Ibaraki (Japan). Inst. of Clinical Medicine)

    1991-05-01

    To evaluate the left ventricular (LV) systolic and diastolic function, fifty-four children with various heart diseases underwent intravenous digital subtraction angiography (IV-DSA). Global left ventricular density curve was obtained through densitometry of the DSA images. The curve was smoothed by a third-degree Fourier transformation and systolic and diastolic indexes were obtained. In the control group, consisting of Kawasaki disease without coronary lesion and mild pulmonary stenosis, the peak ejection rate (PER) and the peak filling rate in early diastole (PFR-E) correlated positively with the heart rate (HR) in a quadratic curve manner (PER: r= 0.93 p<0.01, PFR-E: r= 0.94 p<0.01). Time from end-diastolic to PER (T-PER) and time from end-systolic to PFR (T-PFR) were correlated negatively with HR (T-PER: r=-0.86 p<0.01, T-PFR: r=-0.91 p<0.01). However, T-PER/RR and T-PFR/RR values were rather constant (20.9+-3.2%, 17.0+-2.6%, respectively). We also found significant correlations of PER and PFR-E with left ventricular ejection fraction (LVEF). Patients with corrected tetralogy of Fallot and with cardiomyopaties showed not only abnormal systolic indexes but some depressed diastolic indexes. LV density curve also disclosed isolated diastolic dysfunction in a group of aortic stenosis and in two patients with coronary lesions. A correlation of LVEF derived from the density curve and conventional area-length method was high (r= 0.91 p<0.001). To evaluate the reproducibility, we were able to obtain the digital data twice with over one month interval on 24 patients. The intraobserver correlation was satisfactory. We applied the remasking method, resulting in improving the quality of digital images under spontaneous breathing. Our results indicated that IV-DSA was a less-invasive and clinically reliable method for assessment of LV function in children. (author).

  20. Left ventricular non-compaction: prevalence in congenital heart disease.

    Science.gov (United States)

    Stähli, Barbara E; Gebhard, Catherine; Biaggi, Patric; Klaassen, Sabine; Valsangiacomo Buechel, Emanuela; Attenhofer Jost, Christine H; Jenni, Rolf; Tanner, Felix C; Greutmann, Matthias

    2013-09-10

    Left ventricular non-compaction cardiomyopathy (LVNC) is a rare cardiomyopathy, originally described as an isolated disease without other structural cardiac abnormalities. The aim of this study was to explore the prevalence of LVNC among adults with different types of congenital heart disease. From our databases we identified adults with congenital heart disease who fulfilled diagnostic criteria for LVNC. We report frequencies of associated congenital cardiac defects and the prevalence of LVNC among patients with different congenital heart defects. From a total of 202 patients with LVNC, 24 patients (12%; mean age 32 ± 11 years, 19 males) had additional congenital cardiac defects. Associated defects were left ventricular outflow tract abnormalities in 11 patients (46%), including 7 uni- or bicuspid aortic valves; two aortic coarctations; one diffuse aortic hypoplasia and one subaortic stenosis, Ebstein anomaly in 6 patients (25%), tetralogy of Fallot in two (8%), and double outlet right ventricle in one patient (4%). In our cohort, the prevalence of LVNC was highest among patients with Ebstein anomaly (6/40, 15%), followed by aortic coarctation (2/60, 3%), tetralogy of Fallot (3/129, 2%) and uni- or bicuspid aortic valves (7/963, 1%). In adults, various forms of congenital heart disease are associated with LVNC, particularly stenotic lesions of the left ventricular outflow tract, Ebstein anomaly, and tetralogy of Fallot. In the future, studying these patients in more depth may provide a better understanding of the interplay between genetic and hemodynamic factors that lead to the phenotype of LVNC. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  1. Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

    Directory of Open Access Journals (Sweden)

    M. Cristina Digilio

    2011-07-01

    Full Text Available Atrioventricular canal defect (AVCD is a common congenital heart defect (CHD, representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly. The AVCD is associated with extracardiac defects in about 75% of the cases. In this review we analyzed different syndromic AVCDs, in particular those associated with polydactyly disorders, which show remarkable genotype-phenotype correlations. Chromo - some imbalances more frequently associated with AVCD include Down syndrome, deletion 8p23 and deletion 3p25, while mendelian disorders include Noonan syndrome and related RASopathies, several polydactyly syndromes, CHARGE and 3C (cranio-cerebello-cardiac syndrome. The complete form of AVCD is prevalent in patients with chromosomal imbalances. Additional cardiac defects are found in patients affected by chromosomal imbalances different from Down syndrome. Left-sided obstructive lesions are prevalently found in patients with RASopathies. Patients with deletion 8p23 often display AVCD with tetralogy of Fallot or with pulmonary valve stenosis. Tetralogy of Fallot is the only additional cardiac defect found in patients with Down syndrome and AVCD. On the other hand, the association of AVCD and tetralogy of Fallot is also quite characteristic of CHARGE and 3C syndromes. Heterotaxia defects, including common atrium and anomalous pulmonary venous return, occur in patients with AVCD associated with polydactyly syndromes (Ellis-van Creveld, short rib polydactyly, oral-facial-digital, Bardet-Biedl, and Smith-Lemli-Opitz syndromes. The initial clinical evidence of anatomic similarities between AVCD and heterotaxia in polydactyly syndromes was corroborated and explained by experimental studies in transgenic mice. These investigations have suggested the involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly and heterotaxia, and ciliary dysfunction was detected as pathomechanism for these disorders

  2. [Complex cyanotic heart defect in a newborn infant with cat eye syndrome].

    Science.gov (United States)

    Paul, T; Reimer, A; Wilken, M; Miller, K; Kallfelz, H C

    1991-04-01

    In a cyanotic newborn with characteristic features of Cat-Eye-Syndrome, cytogenetic examination disclosed a supernumerary small bisatellited chromosome. Angiography showed Tetralogy of Fallot with pulmonary atresia and a narrow patent ductus arteriosus with additional stenosis of the bifurcation of the pulmonary artery. At an age of 14 weeks, the patient died after the attempt of corrective cardiac surgery. Congenital cardiac malformation is present in more than one third of patients with cat-eye-syndrome and is usually the lifelimiting malformation in this syndrome.

  3. Neonatal screening to detect critical congenital cardiac disease. A revolution in pediatrics

    Directory of Open Access Journals (Sweden)

    Vela Amieva Marcela

    2014-07-01

    Full Text Available There is solid evidence that demonstrate the usefulness of routine oxygen saturation testing in every apparently healthy newborn after 24 hours of life and before 48 hours. This procedure is known as “newborn screening for critical congenital heart disease” and serves to detect timely those congenital structural cardiac malformations with hypoxema, such as heart syndrome, pulmonary valve atresia, truncus arteriosus, total anomalous pulmonary vein connection, complete transposition of the great arteries, tetralogy of Fallot and tricuspid valve atresia. This test has been included in the mandatory neonatal screening panel of many countries and its generalization all over the world, seems imminent.

  4. An adult with central cyanosis and differential pulmonary vascularity.

    Science.gov (United States)

    Ananthakrishna, Rajiv; Moorthy, Nagaraja; Rao, Dattatreya Pv; Nanjappa, Manjunath C

    2015-01-01

    A 22-year-old male patient presented with progressive effort intolerance of 2-years duration. Clinical findings and investigations were suggestive of Tetralogy of Fallot (TOF). In addition, there was a conspicuous difference in the pulmonary vascularity with oligemia on the left side and relative hypervascularity on the right side. The right pulmonary artery was arising from the proximal ascending aorta and the main pulmonary artery was continuing as the left pulmonary artery. The anomalous origin of a branch pulmonary artery from the aorta (AOPA) is a rare cardiac anomaly. We report this condition in association with TOF, highlighting the differential pulmonary vascularity.

  5. An adult with central cyanosis and differential pulmonary vascularity

    Directory of Open Access Journals (Sweden)

    Rajiv Ananthakrishna

    2015-01-01

    Full Text Available A 22-year-old male patient presented with progressive effort intolerance of 2-years duration. Clinical findings and investigations were suggestive of Tetralogy of Fallot (TOF. In addition, there was a conspicuous difference in the pulmonary vascularity with oligemia on the left side and relative hypervascularity on the right side. The right pulmonary artery was arising from the proximal ascending aorta and the main pulmonary artery was continuing as the left pulmonary artery. The anomalous origin of a branch pulmonary artery from the aorta (AOPA is a rare cardiac anomaly. We report this condition in association with TOF, highlighting the differential pulmonary vascularity.

  6. Isolated pulmonary regurgitation causes decreased right ventricular longitudinal function and compensatory increased septal pumping in a porcine model

    DEFF Research Database (Denmark)

    Kopic, S; Stephensen, S S; Heiberg, E

    2017-01-01

    AIM: Longitudinal ventricular contraction is a parameter of cardiac performance with predictive power. Right ventricular (RV) longitudinal function is impaired in patients with free pulmonary regurgitation (PR) following corrective surgery for Tetralogy of Fallot (TOF). It remains unclear whether...... received a stent in the pulmonary valve orifice, inducing PR. After 2-3 months, animals were subjected to cardiac magnetic resonance imaging. A subset of animals (n = 6) then underwent percutaneous pulmonary valve replacement (PPVR) with follow-up 1 month later. Longitudinal, lateral and septal...

  7. Uso de pericardio bovino para la corrección de cardiopatías congénitas Use of bovine pericardium for correcting congenital cardiopathies

    Directory of Open Access Journals (Sweden)

    Juan C Rendón

    2007-08-01

    una herramienta útil para la corrección de cardiopatías congénitas. Las características del tejido ofrecen al cirujano ventajas como el fácil moldeamiento, lo que permite implantarlo en diferentes zonas anatómicas.Bovine pericardial patch has been utilized as an alternative for different surgical pathologies, including congenital heart malformations. Nevertheless, there are only few articles that report the experience with this kind of patch. The objective of this study is to evaluate the experience with the use of bovine pericardium for the reconstruction of cardiopathies in the Santa Maria Cardiovascular Clinic Medellín since 1994. Materials and methods: 520 patients underwent a corrective or palliative surgical procedure of a congenital heart disease in which the bovine pericardial patch was utilized. 163 of these patients had at least two years follow-up. The localization of the patch, as well as the kind of procedures, the survival, calcifications, aneurysms and leaks, were evaluated. The functional class was evaluated as well and the patients’ survival was compared according to the localization and the kind of patch. Results: 520 procedures were realized using the bovine pericardial patch. Prevalent malformations were septal defects (58% followed by the tetralogy of Fallot (16%.The patch was also used in total or partial anomalous venous connections, and pulmonary atresia among others. 50.9% was localized in a systemic way and 49.7% in the pulmonary circulation. According to the localization, 50.3% were intracardiac and 49.7% extracardiac. Two leaks, two bleedings and three re-interventions were reported during the implantation. During the follow-up only three leaks were reported. Global survival was 95%. There were no significant differences in survival with intra or extracardiac patches or in those that supported pulmonary or systemic circulation. No calcifications were reported. 95% of patients were in functional class I or II, and the rest in III

  8. 1q21.1 Microduplication expression in adults

    Science.gov (United States)

    Dolcetti, Alessia; Silversides, Candice K.; Marshall, Christian R.; Lionel, Anath C.; Stavropoulos, Dimitri J.; Scherer, Stephen W.; Bassett, Anne S.

    2013-01-01

    Purpose Rare, recurrent chromosome 1q21.1 duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in children. Data on adult clinical expression would help to inform genetic counseling. Methods A systematic review of 22 studies reporting 107 individuals (59 children and 48 adults) with 1q21.1 duplications was conducted. We compiled the available phenotypic data to attempt to identify the most highly associated clinical features and to determine expression in adults. We also report on seven adult cases newly identified in the studies of schizophrenia and tetralogy of Fallot at our center. Results Five cases were ascertained as controls, 32 as relatives of probands, and 70 as having clinical features: autism spectrum disorder (n = 15), congenital heart disease (n = 12), schizophrenia (n = 10), or other, mostly developmental, features (n = 33). The 1q21.1 duplication was significantly enriched in the cohorts with schizophrenia (P = 0.0155) and tetralogy of Fallot (P = 0.0040) at our center as compared with controls. There was a paucity of clinical data for adults; the most common features, other than those used for ascertainment, included macrocephaly and abnormalities of possible connective tissue origin (e.g., carpal tunnel syndrome). Conclusion Further data are needed to characterize lifetime expression of 1q21.1 duplications. These initial results, however, suggest that anticipatory care should include attention to later-onset conditions such as schizophrenia. PMID:23018752

  9. Factors Related to Malnutrition in Children Under Five Years with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Amani Sakinah Augiani

    2017-03-01

    Full Text Available Background: Congenital heart disease (CHD is the most frequent type of heart disease that occurs in children. Children with CHD are more vulnerable to suffer impaired nutritional status related to morbidity and mortality. The nutritional status, however, may not be influenced only by CHD, but also by other factors.. The study was conducted to identify factors related to malnutrition in children with CHD Methods: This cross-sectional study involved 86 children with CHD recruited from Dr. Hasan Sadikin General Hospital Bandung from October to November 2015. Data collected in this study were obtained by conducting anthropometric measurements, interviewed the parents (obstetric history, patient’s medical history and socioeonomic status and from medical records (the type and time of CHD diagnosis, other diseases that accompanied the CHD. The collected data were presented by frequency distribution. Results: There were 46.5% patients who had nutritional disturbance. Malnutrition in males and patients with Tetralogy of Fallot were higher than other groups. Almost half patients with maternal history of passive smoking during pregnancy had nutritional disturbance. The most common disease found was diarrhea followed by lower respiratory infection. Percentage of normal children in low-income parents group was lower than the high-income group. Conclusions: Nearly half of patients have nutritional disturbance. Percentage of nutritional disturbance in male was higher compared to female. Active and passive smokers, Tetralogi Fallot, diarrhea, lower respiratory infection and lower income were factors contributed to malnutrition.

  10. Multi-criteria analysis and systemic planning: Towards a tetra-logical approach to planning and assessment

    DEFF Research Database (Denmark)

    Leleur, Steen

    This paper presents systemic planning (SP) with emphasis on multi-criteria decision analysis (MCDA). Specifically, SP is presented as a “tetra-logical” methodology approach with MCDA as one out of four major method orientations. The Danish-Swedish Øresund Fixed Link is used as application example....... It is concluded that the combination of SP and MCDA better than ordinary cost-benefit analysis can provide the necessary decision support for major, long-range investment decisions....

  11. Pattern and clinical profile of children with complex cardiac anomaly ...

    African Journals Online (AJOL)

    2012-11-25

    Nov 25, 2012 ... hospital over the study period, of these, 65 had cardiac diseases, from which 16 were found to have congenital complex ... DORV (double outlet right ventricle) with left sided aorta, hypoplastic tricuspid valve with a PDA (patent ductus artriosus),. TOF (tetralogy of .... Mitral valvular stenosis with membranous.

  12. Non-invasive diagnosis and follow-up of right ventricular overload

    NARCIS (Netherlands)

    Henkens, Ivo Reinier

    2008-01-01

    Right ventricular overload covers a spectrum ranging from volume overload to pressure overload, and often is a combination of these, compromising cardiac function. Part I focuses on right ventricular volume overload in adults with Fallot’s tetralogy corrected in early childhood. We determined

  13. Radiological evaluation of double-outlet right ventricle - An analysis of cinecardioangiography in 44 cases -

    Energy Technology Data Exchange (ETDEWEB)

    Park, Cheong Hee; Yeon, Kyung Mo; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1984-03-15

    in 4, interrupted IVC in 1, obstructive VSD in 2, ASD in 4, PDA in 4, right aortic arch with levocardia in 5, and ectopic spleen with mesocardia in 1 case. 7. Biplane cinecardioangiogram must be performed in both ventricles to define the VSD and its relationship to the great arteries, and, if necessary, should also be performed in the aorta to rule out coarctation and coronary artery abnormalities, and in the pulmonary artery to visualize pulmonary venous return and mitral valve. Angiography is of crucial importance in differentiating double-outlet right ventricle from tetralogy of Fallot and complete transposition of the great arteries.

  14. Evaluation of exercise capacity with cardiopulmonary exercise test and B-type natriuretic peptide in adults with congenital heart disease.

    Science.gov (United States)

    Trojnarska, Olga; Gwizdała, Adrian; Katarzyński, Sławomir; Katarzyńska, Agnieszka; Szyszka, Andrzej; Lanocha, Magdalena; Grajek, Stefan; Kramer, Lucyna

    2009-01-01

    Adult patients with congenital heart disease (CHD) usually find their exercise capacity satisfactory. However, objective evaluation is important for diagnostic and prognostic purposes. The aim of this study was to evaluate exercise capacity using cardiopulmonary exercise tests and measurement of serum B-type natriuretic peptide (BNP) levels in adult patients with CHDs, both in the entire study cohort and in subjects with individual types of cardiac lesions, as well as to verify the relation between BNP level and cardiac performance. The study group included 265 patients (136 males; mean age 34.4 +/- 11.6 years) 173 of whom were operated on at the mean age of 9.2 +/- 7.3 years. They represented the following types of CHD: 72 patients--surgically corrected coarctation of the aorta, 62--surgically corrected tetralogy of Fallot, 28--Ebstein anomaly, 26--patent atrial septal defect, 24--Eisenmenger syndrome, 20--uncorrected or palliated complex cyanotic lesions, 11--corrected transposition of the great arteries (TGA), 14--TGA after Senning operation, and 8--common ventricle after Fontana operation. The control group consisted of 39 healthy individuals (17 males) with a mean age of 35.8 +/- 9.3 years. According to NYHA classification, 207 patients were recognized as representing class I symptoms, 47 subjects class II, and 11 class III. Cardiopulmonary exercise revealed significantly reduced exercise capacity in adults with CHD in general, compared to control subjects: maximal oxygen uptake (VO2max) was 23.3 +/- 6.9 vs. 33.6 +/- 7.2 mL/kg/min, respectively (p = 0.00001); maximum heart rate at peak exercise (HRmax) -161.1 +/- 33.2 vs. 179.6 +/- 12.3 bpm (p = 0.00001); respiratory workload (VE/VCO2slope) - 35.7 +/- 9.7 vs. 26.3 +/- 3.1 (p = 0.00001); and forced vital capacity (FVC) - 3.8 +/- 1.1 vs. 4.6 +/- 0.7 L (p = 0.00003). Various degrees of peak VO2max reduction were observed across the spectrum of CHD. Patients after repair of aortic coarctation demonstrated the

  15. Treatment of children with protein - losing enteropathy after fontan and other complex congenital heart disease procedures in condition with limited human and technical resources.

    Science.gov (United States)

    Bejiqi, Ramush; Retkoceri, Ragip; Zeka, Naim; Bejiqi, Hana; Vuqiterna, Armend; Maloku, Arlinda

    2014-02-01

    Protein-losing enteropathy (PLE) is a disorder characterized by abnormal and often profound enteric protein loss. It's relatively uncommon complication of Fontan and other complex congenital heart disease (CCHD) procedures. Because of the complexity and rarity of this disease process, the pathogenesis and pathophysiology of protein-losing enteropathy remain poorly understood, and attempts at treatment seldom yield long-term success. is to describe single centre experience in diagnosis, evaluation, management and treatment of children with protein-losing enteropathy after Fontan and other CCHD procedures in the current era and in centre with limited human and technical resources, follows with a comprehensive review of protein-losing enteropathy publications, and concludes with suggestions for prevention and treatment. Retrospectively we analyzed patients with CCHD and protein-losing enteropathy in our institution, starting from January 2000 to December 2012. The including criteria were age between two and 17 years, to have a complex congenital heart disease and available complete documentation of cardiac surgery under cardiopulmonary bypass. Of all patients we evaluated 18 cases with protein-losing enteropathy, aged 6 to 19 years (mean 14±9); there were three children who had undergone screening procedure for D-transposition, one Tetralogy of Fallot, and remaining 14 patients had undergone Fontan procedures; (anatomic diagnosis are: six with tricuspid atresia, seven with d-transposition, double outlet right ventricle and pulmonary atresia and two with hypoplastic left heart syndrome). The diagnosis of protein-losing enteropathy was made at median age of 5.6 years, ranging from 13 months to 15 years. Diagnosis was made using alpha 1-antitrypsin as a gold marker in stool. By physical examination in 14 patients edema was found, in three ascites, and six patients had pleural effusion. Laboratory findings at the time of diagnosis are: abnormal enteric protein loss was

  16. [Prevalence of selected congenital anomalies in the Czech Republic: renal and cardiac anomalies and congenital chromosomal aberrations].

    Science.gov (United States)

    Šípek, Antonín; Gregor, Vladimír; Horáček, Jiří; Šípek, Antonín; Langhammer, Pavel

    2013-09-01

    Analysis of the prevalence rates of selected diagnoses of congenital anomalies in the Czech Republic in 1994-2009. Retrospective epidemiological analysis of postnatal and total (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. Data on congenital anomalies in general and selected types of congenital anomalies were analyzed for the entire Czech Republic from 1994-2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres in the Czech Republic thanks to voluntary cooperation. This study analyzed postnatal and overall prevalence of congenital anomalies, with the latter including results of positive prenatal diagnosis. More detailed analysis was carried out for the following diagnoses: cystic kidney disease, renal agenesis/hypoplasia, tetralogy of Fallot, large vessel transposition, left heart hypoplasia, aortic coarctation, Down syndrome, Edward syndrome, and Patau syndrome. Cystic kidney disease showed a significant increase in 1999 and 2000, mainly due to postnatally diagnosed cases. This can be explained, on the one hand, by the modification made to the reporting of congenital anomalies in the Czech Republic and, on the other hand, by an earlier and more complete detection of postnatal cases. Since 2000, there has been a significant increase in reported cystic kidney disease as a result of postnatal kidney screening. In 1994-1999, the prevalence rates of this diagnosis ranged from 1.7 to 3.1 per 10,000 live births. Similar trend is seen in the prevalence of renal agenesis/hypoplasia. In the monitored period, prenatally diagnosed cases showed a slight increase while postnatally diagnosed cases showed a considerable rise. In 1994-1999, the

  17. Cardiac magnetic resonance imaging in patients with congenital heart disease; Kardiale MRT bei Patienten mit angeborenen Herzfehlern

    Energy Technology Data Exchange (ETDEWEB)

    Kreitner, Karl-Friedrich [Mainz Univ. Universitaetsmedizin Mainz (Germany). Klinik und Poliklinik fuer Diagnostische und Interventionelle Radiologie; Kaufmann, Lilly [Mainz Univ. (Germany); Sorantin, Erich [Univ.-Klinik fuer Radiologie, Graz (Austria). Klinische Abt. fuer Kinderradiologie

    2015-06-15

    The prevalence of congenital heart disease (CHD) is around 10 per 1000 live births in Germany. More than 90 % of these patients will survive into adulthood due to improvements in therapy. The classification of CHD may be based according to the anatomic structures involved, to the presence of an intracardiac shunt, the presence of a cyanosis and the intensity of therapy and complexity of the disease. Nearly half of all patients with CHD suffer from an intracardiac shunt, whereas complex cases such as patients with a tetralogy of Fallot or transposition of the great arteries are much more rare. Cardiac magnetic resonance imaging plays an important role in the work-up and follow-up of patients with CHD, especially after infancy and childhood. Depending on the abnormality in question, a multiparametric examination protocol is mandatory. Knowledge of operative procedures and findings of other imaging modalities help to optimize examination and time needed for it.

  18. Ocular motility disturbances (Duane retraction syndrome and double elevator palsy with congenital heart disease, a rare association with Goldenhar syndrome-A case report

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    Verma Manju

    1992-01-01

    Full Text Available This report is a case of a 4 year old male child who was admitted for meningitis. On clinical examination he was diagnosed as a case of oculo-suriculo-vertebral dysplasia with congenital heart disease, i.e., tetralogy of Fallots besides his presenting picture of meningitis. During his ophthalmic checkup for the conspicuous presence of epibulbar dermoid, he was discovered to have upper lid coloboma, double elevator palsy, and Grade 1 Duane retraction syndrome in his right eye while the pathognomic feature, a dermolipoma, was present in the left eye. The oculo-auriculo-vertebral dysplasia, as described by Goldenhar, is a disease complex of structures developed from the Ist and IInd branchial arch. The important feature of this case is the bilateral involvement of the disease complex over and above the presence of ocular motility disorders--Duane retraction syndrome and double elevator palsy.

  19. Current diagnosis and treatments for critical congenital heart defects.

    Science.gov (United States)

    Zeng, Zhandong; Zhang, Hongwei; Liu, Fengli; Zhang, Ning

    2016-05-01

    Congenital heart defects (CHD) affect approximately 7% of infants, and account for 3% of all infant deaths. CHD is most often caused by the defects associated with ductus arteriosus, which is a vessel that usually closes shortly after birth. The types of CHD include tetralogy of fallot, hypoplastic left heart syndrome, pulmonary atresia, total anomalous pulmonary venous return, transposition of great arteries, tricuspid atresia and truncus arteriosus. There are some risk factors that can increase the chance of a fetus developing CHD such as prematurity, an existing CHD in a first-degree relative, genetic syndromes, infections in utero, maternal drug consumptions and disorders. CHD is diagnosed is through different techniques including pulse oximetry, echocardiograms and physical exams. In this review, we examined the current incidence of CHD, the risk factors associated with CHD, the current methods of diagnosis and surgical options used to repair the defects.

  20. Cerebral Oxygenation Measurements by Magnetic Resonance Imaging in Fetuses With and Without Heart Defects

    DEFF Research Database (Denmark)

    Lauridsen, Mette H; Uldbjerg, Niels; Henriksen, Tine B

    2017-01-01

    BACKGROUND: Children with major congenital heart defects are risking impaired cerebral growth, delayed cerebral maturation, and neurodevelopmental disorders. We aimed to compare the cerebral tissue oxygenation of fetuses with major heart defects to that of fetuses without heart defects as estimated...... by the magnetic resonance imaging modality T2*. T2* is low in areas with high concentrations of deoxyhemoglobin. METHODS AND RESULTS: At gestational age mean 32 weeks (early) and mean 37 weeks (late), we compared the fetal cerebral T2* in 28 fetuses without heart defects to that of 15 fetuses with major heart...... defects: transposition of the great arteries (n=7), coarctation of the aorta/hypoplastic aortic arch (n=5), tetralogy of Fallot (n=1), hypoplastic right heart (n=1), and common arterial trunk (n=1). The women were scanned with a 1.5 T Philips scanner using a breath-hold multiecho gradient echo sequence...

  1. Cyanotic Congenital Heart Defects – literature review

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    Vlad Drăgoi

    2017-11-01

    Full Text Available Congenital heart defects are one of the most interesting and important chapters regarding abnormal fetal growth pathology. The objective of this article is to present a literature review for the main cyanotic congenital heart defects. The ones presented in the article are: tetralogy of Fallot, transposition of the great vessels, double outlet right ventricle, truncus arteriosus, total anomalous pulmonary venous circulation and additional information regarding very rare malformations such as pentalogy of Cantrell and Uhl anomaly. An early and precise identification of congenital heart defects is an important step in an accurate follow-up of a potential problematic pregnancy. Knowing the sonographic aspect, associated pathology and the current available treatment procedures are vital for the fetal outcome and for the physician to adapt the right management in every situation that might appear during the pregnancy and in the neonatal period.

  2. Emerging Research Directions in Adult Congenital Heart Disease: A Report from a National Heart, Lung, and Blood Institute/Adult Congenital Heart Association Working Group

    Science.gov (United States)

    Gurvitz, Michelle; Burns, Kristin M.; Brindis, Ralph; Broberg, Craig S.; Daniels, Curt J.; Fuller, Stephanie M.P.N.; Honein, Margaret A.; Khairy, Paul; Kuehl, Karen S.; Landzberg, Michael J.; Mahle, William T.; Mann, Douglas L.; Marelli, Ariane; Newburger, Jane W.; Pearson, Gail D.; Starling, Randall C.; Tringali, Glenn R.; Valente, Anne Marie; Wu, Joseph C.; Califf, Robert M.

    2016-01-01

    Congenital heart disease (CHD) is the most common birth defect, affecting about 0.8% of live births. Advances in recent decades have allowed >85% of children with CHD to survive to adulthood, creating a growing population of adults with CHD. Little information exists regarding survival, demographics, late outcomes, and comorbidities in this emerging group, and multiple barriers impede research in adult CHD (ACHD). The National Heart, Lung, and Blood Institute and the Adult Congenital Heart Association convened a multidisciplinary Working Group to identify high-impact research questions in ACHD. This report summarizes the meeting discussions in the broad areas of CHD-related heart failure, vascular disease and multisystem complications. High-priority subtopics identified included heart failure in tetralogy of Fallot, mechanical circulatory support/transplantation, sudden cardiac death, vascular outcomes in coarctation of the aorta, late outcomes in single ventricle disease, cognitive and psychiatric issues, and pregnancy. PMID:27102511

  3. Congenital heart defect in sibs with discordant karyotypes.

    Science.gov (United States)

    Digilio, M C; Marino, B; Canepa, S A; Borzaga, U; Giannotti, A; Dallapiccola, B

    1998-11-02

    Congenital heart defects (CHDs) are genetically heterogeneous, associated with a variety of genetic conditions. Familial aggregation of CHD in patients with and without Down syndrome is rare. We report on the occurrence of concordant CHD in three sets of sibs with discordant karyotypes. In the first family, atrioventricular canal (AVC) was diagnosed in a chromosomally normal child and in his brother with Down syndrome. In the second family, AVC was associated with trisomy 21 in one sib and with trisomy 18 in the other. In the third family, tetralogy of Fallot was present in one patient with Down syndrome and in his nonsyndromic sister. Although the genetic heterogeneity of Down and non-Down CHD is not disputed, a susceptibility to both euploid and aneuploid CHDs could exist, and common predisposing factors could play a role in both conditions.

  4. Cerebellar fits in the 2000s.

    Science.gov (United States)

    Serino, Domenico; Caputo, Davide; Fusco, Lucia

    2017-07-19

    Acute compression on the brainstem or acute increase in intracranial pressure may induce non-epileptic events varying from tonic seizures to axial rigidity with motor automatism, sometimes clearly characterized by decerebrate or decorticate paroxysmal posturing. The EEG correlate is characterized by diffuse asynchronous slow waves of variable amplitude. The mechanism behind such events, known as "cerebellar seizures or fits", is linked to cerebellar herniation and brainstem compression and is not of cortical origin. Misrecognition of such entity may entail an incongruous therapeutic intervention in a life-threatening situation. We describe two emblematic paediatric cases of cerebellar fits caused by diffuse oedema and brainstem compression: a 10-year-old girl with acute disseminated encephalomyelitis (ADEM) and a 2-year-old girl with severe respiratory distress symptomatic of Fallot tetralogy. We also describe the EEG correlate recorded during the events. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  5. Isolated persistent left superior vena cava: A case report and its clinical implications

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    Samarjit Bisoyi

    2017-01-01

    Full Text Available The venous anomaly of a persistent left superior vena cava (PLSVC affects 0.3%-0.5% of the general population. PLSVC with absent right superior vena cava, also termed as "isolated PLSVC," is an extremely rare venous anomaly. Almost half of the patients with isolated PLSVC have cardiac anomalies in the form of atrial septal defect, endocardial cushion defects, or tetralogy of Fallot. Isolated PLSVC is usually innocuous. Its discovery, however, has important clinical implications. It can pose clinical difficulties with central venous access, cardiothoracic surgeries, and pacemaker implantation. When it drains to the left atrium, it may create a right to left shunt. In this case report, we present the incidental finding of isolated PLSVC in a patient who underwent aortic valve replacement. Awareness about this condition and its variations is important to avoid complications.

  6. Left Pulmonary Artery Agenesis in a Pediatric Patient – Case Report

    Directory of Open Access Journals (Sweden)

    Blesneac Cristina

    2016-06-01

    Full Text Available Unilateral pulmonary artery agenesis is a rare congenital anomaly, that may develop in isolation, or in association with other congenital cardiovascular anomalies, such as tetralogy of Fallot, septal defects, right-sided aortic arch, or pulmonary atresia. Left-sided pulmonary artery agenesis is less frequent than the right-sided one. Diagnosis of unilateral pulmonary artery agenesis can be difficult. We report the case of a 15 year-old boy who presented with reduced exercise tolerance, shortness of breath and cyanosis. He was diagnosed with left pulmonary artery agenesis, associated with subaortic-ventricular septal defect, right-sided aortic arch, and severe pulmonary arterial hypertension (PAH, that precluded the surgical repair. Pulmonary vasodilator therapy was initiated in this case. The mortality rate of this rare anomaly is high due to its complications. It is essential to establish an early and correct diagnosis, in order to provide adequate treatment and prevent complications in this disease.

  7. Congenital heart disease in adults and its problems

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    Teddy Ontoseno

    2001-10-01

    Full Text Available There were 40 adult congenital heart disease (CHD patients seen in the Cardiology Division during 1 year (February 1993 - February 1994. The most frequently seen defect was atrial septal defect; however there were also cases with patent ductus arteriosus, pulmonary stenosis, ventricular septal defect, and tetralogy of Fallot. Hemodynamic disorder, serious hindrance to education achievement, and occupational threat due to limited physical capabilities as well as malnutrition are some of prominent issues to be closely anticipated. In general the older the patients the more serious hemodynamic disorder they suffer due CHD. It is worth thinking how to improve the quality of life of CHD patients who succeed to live their adult lives and minimize any possible fatal complication risks.

  8. Gene expression in cardiac tissues from infants with idiopathic conotruncal defects

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    Lofland Gary K

    2011-01-01

    Full Text Available Abstract Background Tetralogy of Fallot (TOF is the most commonly observed conotruncal congenital heart defect. Treatment of these patients has evolved dramatically in the last few decades, yet a genetic explanation is lacking for the failure of cardiac development for the majority of children with TOF. Our goal was to perform genome wide analyses and characterize expression patterns in cardiovascular tissue (right ventricle, pulmonary valve and pulmonary artery obtained at the time of reconstructive surgery from 19 children with tetralogy of Fallot. Methods We employed genome wide gene expression microarrays to characterize cardiovascular tissue (right ventricle, pulmonary valve and pulmonary artery obtained at the time of reconstructive surgery from 19 children with TOF (16 idiopathic and three with 22q11.2 deletions and compared gene expression patterns to normally developing subjects. Results We detected a signal from approximately 26,000 probes reflecting expression from about half of all genes, ranging from 35% to 49% of array probes in the three tissues. More than 1,000 genes had a 2-fold change in expression in the right ventricle (RV of children with TOF as compared to the RV from matched control infants. Most of these genes were involved in compensatory functions (e.g., hypertrophy, cardiac fibrosis and cardiac dilation. However, two canonical pathways involved in spatial and temporal cell differentiation (WNT, p = 0.017 and Notch, p = 0.003 appeared to be generally suppressed. Conclusions The suppression of developmental networks may represent a remnant of a broad malfunction of regulatory pathways leading to inaccurate boundary formation and improper structural development in the embryonic heart. We suggest that small tissue specific genomic and/or epigenetic fluctuations could be cumulative, leading to regulatory network disruption and failure of proper cardiac development.

  9. Increasing mortality burden among adults with complex congenital heart disease.

    Science.gov (United States)

    Greutmann, Matthias; Tobler, Daniel; Kovacs, Adrienne H; Greutmann-Yantiri, Mehtap; Haile, Sarah R; Held, Leonhard; Ivanov, Joan; Williams, William G; Oechslin, Erwin N; Silversides, Candice K; Colman, Jack M

    2015-01-01

    Progress in management of congenital heart disease has shifted mortality largely to adulthood. However, adult survivors with complex congenital heart disease are not cured and remain at risk of premature death as young adults. Thus, our aim was to describe the evolution and mortality risk of adult patient cohorts with complex congenital heart disease. Among 12,644 adults with congenital heart disease followed at a single center from 1980 to 2009, 176 had Eisenmenger syndrome, 76 had unrepaired cyanotic defects, 221 had atrial switch operations for transposition of the great arteries, 158 had congenitally corrected transposition of the great arteries, 227 had Fontan palliation, and 789 had repaired tetralogy of Fallot. We depict the 30-year evolution of these 6 patient cohorts, analyze survival probabilities in adulthood, and predict future number of deaths through 2029. Since 1980, there has been a steady increase in numbers of patients followed, except in cohorts with Eisenmenger syndrome and unrepaired cyanotic defects. Between 1980 and 2009, 308 patients in the study cohorts (19%) died. At the end of 2009, 85% of survivors were younger than 50 years. Survival estimates for all cohorts were markedly lower than for the general population, with important differences between cohorts. Over the upcoming two decades, we predict a substantial increase in numbers of deaths among young adults with subaortic right ventricles, Fontan palliation, and repaired tetralogy of Fallot. Anticipatory action is needed to prepare clinical services for increasing numbers of young adults at risk of dying from complex congenital heart disease. © 2014 The Authors. Congenital Heart Disease Published by Wiley Periodicals, Inc.

  10. Extracorporeal membrane oxygenation in children with heart disease and down syndrome: a multicenter analysis.

    Science.gov (United States)

    Gupta, Punkaj; Gossett, Jeffrey M; Rycus, Peter T; Prodhan, Parthak

    2014-12-01

    The data on the outcomes of children with heart disease and Down syndrome receiving extracorporeal membrane oxygenation (ECMO) for cardiac or respiratory failure are limited. This study aimed to evaluate morbidity and mortality associated with ECMO in children with Down syndrome and heart disease. Children younger than 18 years undergoing heart surgery and ECMO reported in the Extracorporeal Life Support Organization (ELSO) registry (1998-2011) were included in the study. The registry was queried for the following five heart defects: common atrioventricular (AV) canal, tetralogy of Fallot, truncus arteriosus, transposition of great vessels, and interrupted aortic arch. Data collection included patient characteristics, ECMO characteristics, and outcomes. The outcomes evaluated included mortality, ECMO duration, and length of hospital stay for patients with Down syndrome and those with no Down syndrome. The study enrolled 2,815 patients qualified for inclusion. Of these patients, 121 had Down syndrome, whereas 2,694 had no genetic syndrome and were included in the control group. The median age of the patients was 45 days (interquartile range [IQR] 9-192 days), and the median weight was 3.8 kg (IQR 3.0-6.1 kg). The most common cardiac defects in Down syndrome group were common AV canal (63 %) and tetralogy of Fallot (40 %). The Down syndrome group included older patients with greater body weight than the control group. The mortality rate was lower in the Down syndrome group than in the control group (44 vs. 56 %; p = 0.01). The duration of ECMO and length of hospital stay were similar in the two groups. The findings showed that ECMO can be used for children with heart disease and Down syndrome with good results. The outcomes were comparable between the children with Down syndrome and the children without Down syndrome.

  11. Avaliação de tubo valvulado de pericárdio bovino em um modelo experimental animal Evaluation of bovine pericardium valved conduit in an animal experimental model

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    José Luiz Verde dos Santos

    1990-04-01

    Full Text Available Doenças congênitas, como a atresia pulmonar e a tétrade de Fallot, entre outras, têm sido corrigidas com o uso de condutos extracardíacos. Existe uma variedade de condutos, valvulados ou não, que possibilita o acesso do fluxo sangüíneo do ventrículo direito à circulação pulmonar. Contudo, os tubos plásticos com válvulas biológicas ou metálicas apresentam problemas de degeneração e obstrução da prótese e peeling do tubo, além do alto custo. A experiência adquirida com o pericárdio bovino tratado, mostrando-se impermeável e de fácil sutura, possibilitou a confecção de tubos valvulados que, neste estudo, foram avaliados quanto a obstrução, calcificação e dilatação. A utilização de um modelo experimental animal permitiu a avaliação periódica detalhada por ecodopplercardiografia e cateterismo durante um, três e seis meses de evolução. As peças recuperadas foram estudadas por microscopia óptica e raios X, com a análise de diversas regiões da bioprótese. O exame macroscópico mostrou o pericárdio dos tubos preservados com sinais de pseudo-endotelizaçáo, e a maioria das válvulas com calcificação moderada, mas ainda com boa função. São apresentados e discutidos a técnica operatória empregada sem circulação extracorpórea e os resultados com o seguimento de cinco animais (carneiros, durante seis meses. Os autores concluem que o enxerto tubular valvulado de pericárdio bovino mostrou bons resultados na via de saída do ventrículo direito, permitindo prever um resultado satisfatório quando empregado em seres humanos, pela conhecida relação de degeneração acelerada das próteses biológicas no modelo experimental estudado, muitas vezes maior que no homem.Congenital diseases as pulmonary atresia, tetralogy of Fallot, among others, have been corrected using the extracardiac conduits. There is a variety of conduits valved or not that make possible the access of sanguineous flux from right

  12. Early experience with the Venus p‑valve for percutaneous pulmonary valve implantation in native outflow tract.

    Science.gov (United States)

    Garay, F; Pan, X; Zhang, Y J; Wang, C; Springmuller, D

    2017-02-01

    The Venus p‑valve (MedTech, Shanghai, China) is a self-expanding percutaneous heart valve designed to be implanted in a native patched right ventricle outflow tract. The worldwide clinical experience with this valve is just beginning and the results have so far been encouraging. We present our initial early experience implanting the Venus p‑valve in the native right ventricle outflow tract of patients with Tetralogy of Fallot repaired with a transannular patch. In 10 selected patients a procedure for percutaneous pulmonary valve implantation was performed using the Venus p‑valve. The patients mean age was 32 years (13-57), mean weight 59.6 kg (40-80). All patients had Tetralogy of Fallot with moderate to severe pulmonary regurgitation and an indication for pulmonary valve replacement. The implantation procedure was successful in all the patients resulting in an immediately functional valve. No procedure-related complications were observed. Follow-up after 12 months (4-21) resulted in an improvement in NYHA class. There was a reduction of the mean right ventricle diastolic volume from 139 ml/m2 (105-179) to 78 ml/m2 (65-100) and improvement in the regurgitation fraction from 42% (29-58) to 1% (0-5), as seen on routine cardiac magnetic resonance 6 months after the implantation. No stent fractures have been observed so far. Percutaneous pulmonary valve implantation with the Venus p‑valve resulted in a safe and effective procedure. The valve has predictable and sustained functional competence, resulting in clinical improvement in the patients.

  13. Operação de Blalock-Taussig modificada para o tratamento paliativo de cardiopatias congênitas com hipofluxo pulmonar Blalock-Taussig operation for palliative treatment of congenital heart disease with low pulmonary flow

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    Miguel A Maluf

    1995-09-01

    úrgica. A operação de Blalock-Taussig modificada demonstrou ser um método confiável e seguro no tratamento paliativo das cardiopatias com hipofluxo pulmonarFrom January 1990 to November 1994, 72 patients with congenital heart defects and low pulmonary flow underwent modified Blalock-Taussig produce. There were 44 (61.1% males and 28 (38.8% females with ages ranging from 2 days to 11 years (average 9 months. Thirty eight (52,8% patients had Tetralogy of Fallot; 7 (9,7% had pulmonary atresia with intact ventricular septum (PA/IVS; 6 (8.4%, had transposition of the great arteries (TGA with pulmonary stenosis (PS; 6 (8,4% had tricuspid atresia (TA with PS; 6 (8.4% had double inlet of right ventricle (RV or left ventricle (LV and PS; 3 (4.2% had corrected transposition of the great arteries (CTGA with ventricular septal defects (VSD and PS; 2 (2.7% had double outlet of RV or LV and PS; 2 (2.7% had atrio-ventricular canal defects (A-VC and PS; 2 (2.7% patients had right or left Isomerism and PS. The decision to surgical indication was based on: a new borns with "ductus dependent" heart defects; b lactents with important cianosis or hypoxia; c infants with heart defects without possibilities of biventricular correction. The surgical technique employed was the Blalock-Taussig operation using 4 or 5 mm Polytetrafluoroethy (PTFE prosthesis in 69 (94.5% cases, umbilical vein in 3 (4.1% cases and bovine thoracic artery in 1 (1.4% case. Before the arteries were clamped 1 mg/kg of héparine was given without mobilization, with protamine, after the procedure. During the post-operative period, anticoagulants were not given. The prosthesis obstruction was the main cause of death and was related to artery anatomy: subclavian and pulmonary artery diameter and/or problems with the technique. The modified Blalock-Taussig operation showed itself to be a reliable palliative treatment to heart defects with low pulmonary flow

  14. O conduto valvulado bovino contegra, um biomaterial para o tratamento cirúrgico de cardiopatias congênitas The contegra valved bovine conduit: a biomaterial for the surgical treatment of congenital heart defects

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    Shi-Min Yuan

    2012-12-01

    congenital heart defects, especially as a conduit for the right ventricular outflow tract reconstruction. This article aims to make a comprehensive review on the clinical outcomes of Contegra. Reports of Contegra published since 2002 were comprehensively retrieved, collected and analyzed. There were 1718 Contegra, applied in 1705 patients. The sizes of the conduits were 8-22 mm. The patients aged from newborn to 74.5 years, prevailed by pediatrics. The primary diagnosis was congenital heart defects in all cases, with Tetralogy of Fallot, truncus arteriosus and pulmonary atresia being the first three diagnoses, representing 25.6%, 16.7%, and 13.1%, respectively. Contegra was used as a tube graft in the pulmonary position in 1635 (95.9% patients, as a monocuspid patch in 12 (0.7%, as a graft in the position of the pulmonary valve or a monocusps in 40 (2.3%, and as an inferior vena cava-pulmonary artery conduit in the Fontan procedure in 18 (1.1% patients, respectively. Conduit reimplantation was performed in 141 (8.3% patients 33.8 ± 37 (8.6-106.8 months after the initial conduit insertion. Conduit plasty was necessary in 6 (0.4%, and reintervention in 83 (4.9% patients. Indications for conduit reimplantation included severe stenosis of the distal anastomosis, pseudoaneurysm of the proximal anastomosis and severe conduit regurgitation. As for the good performance, availability and longevity, Contegra is a biomaterial suitable for the right ventricular outflow tract reconstruction and for patch repair for ventricular septal defect, but not apt for Fontan procedure.

  15. O conduto valvulado bovino contegra, um biomaterial para o tratamento cirúrgico de cardiopatias congênitas The contegra valved bovine conduit: a biomaterial for the surgical treatment of congenital heart defects

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    2012-01-01

    congenital heart defects, especially as a conduit for the right ventricular outflow tract reconstruction. This article aims to make a comprehensive review on the clinical outcomes of Contegra. Reports of Contegra published since 2002 were comprehensively retrieved, collected and analyzed. There were 1718 Contegra, applied in 1705 patients. The sizes of the conduits were 8-22 mm. The patients aged from newborn to 74.5 years, prevailed by pediatrics. The primary diagnosis was congenital heart defects in all cases, with Tetralogy of Fallot, truncus arteriosus and pulmonary atresia being the first three diagnoses, representing 25.6%, 16.7%, and 13.1%, respectively. Contegra was used as a tube graft in the pulmonary position in 1635 (95.9% patients, as a monocuspid patch in 12 (0.7%, as a graft in the position of the pulmonary valve or a monocusps in 40 (2.3%, and as an inferior vena cava-pulmonary artery conduit in the Fontan procedure in 18 (1.1% patients, respectively. Conduit reimplantation was performed in 141 (8.3% patients 33.8 ± 37 (8.6-106.8 months after the initial conduit insertion. Conduit plasty was necessary in 6 (0.4%, and reintervention in 83 (4.9% patients. Indications for conduit reimplantation included severe stenosis of the distal anastomosis, pseudoaneurysm of the proximal anastomosis and severe conduit regurgitation. As for the good performance, availability and longevity, Contegra is a biomaterial suitable for the right ventricular outflow tract reconstruction and for patch repair for ventricular septal defect, but not apt for Fontan procedure.

  16. APPLICATION OF STANDARD CHEST X-RAY IN DETECTION OF HEART CONDITIONS

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    Natasa Markovic

    2007-01-01

    Full Text Available This paper focuses on heart conditions which can be diagnosed using a technically correct standard chest X-ray. The paper presents: dextrocardia, aortic coarctation, isolated stenosis of the pulmonary artery, Lutembacher syndrome, Fallot’s tetralogy, Ebstein’s heart malformation and the aneurism of the thoracic aorta. Standard chest X-ray is the method of choice in diagnostics of heart anomalies.

  17. [Pregnancy outcome after preconceptional exposure to methotrexate for ectopic pregnancy].

    Science.gov (United States)

    Lagarce, Laurence; Bernard, Nathalie; Carlier, Patrick; Phelipot-Lates, Silviana; Perault-Pochat, Marie-Christine; Drablier, Guillaume; Bourneau-Martin, Delphine; Lainé-Cessac, Pascale

    2016-09-01

    Methotrexate (MTX) is a known teratogenic drug used off-label in the treatment of ectopic pregnancies (EP). As MTX polyglutamated derivatives remains into the cells during several weeks, it is recommended to avoid conception during 3 to 6 months following MTX therapy. We report the follow-up of pregnancies after preconceptional exposure to MTX for EP. Prospective cases of pregnancy occurring within 3 months after MTX injection for an EP recorded in the Terappel database were analyzed. Data were obtained on 52 pregnant women. The median age of patients was 28 (18-38), and the median gestational age at inclusion was 7 weeks after last menstrual period (3-22). The time between the last MTX injection and conception ranged from 12 days to 13 weeks and the total MTX dose was between 40 to 210mg. Out of 45 pregnancies with known outcome, there were 39 live births (87%), 3 spontaneous abortions (6.7%) occurring 63 to 94 days after MTX administration, 2 elective terminations, and 1 medical termination after premature rupture of membranes, oligohydramnios and arthrogryposis (48mg of MTX 9 and 8 weeks before conception). Two additional cases of major malformations were observed among 40 examinable babies or fetuses: tetralogy of Fallot (MTX 6 weeks before conception), and cerebral ventriculomegaly with normal karyotype (50mg of MTX 9 to 13 weeks before conception). The resulting rate of major malformations was 7.5% (95% CI: 1.6-20.4). Although this prospective study shows a major malformation rate higher than expected in the general population, the observed malformations are not consistent with the typical pattern of methotrexate embryopathy. However, the case of tetralogy of Fallot is reminiscent of previously published cases with MTX exposure during early pregnancy. Owing to the small sample size, more powerful studies are needed to confirm or refute these findings. Copyright © 2016 Société française de pharmacologie et de thérapeutique. Published by Elsevier

  18. Anestesia en la operación de Blalock-Taussig

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    Lincoln de la Parte Pérez

    2001-09-01

    Full Text Available A pesar de los avances en la última década de las técnicas quirúrgicas para la reparación total de los defectos congénitos cianóticos del corazón, aún algunos pacientes necesitan procedimientos quirúrgicos paliativos durante los primeros meses de vida. Se presenta un estudio retrospectivo de 160 pacientes operados con la técnica paliativa de Blalock-Taussig, en el Cardiocentro del Hospital Pediátrico Universitario "William Soler", en el período de 1990 a 1993. Padecían de Tetralogía de Fallot 120 pacientes, 35 de atresia pulmonar y el resto 5, de transposición de los grandes vasos. El fentanyl fue el agente más utilizado en la inducción y mantenimiento de la anestesia y aportó gran estabilidad hemodinámica. Las complicaciones transoperatorias más frecuentes fueron las arritmias cardíacas (25 pacientes, 15,6 % y dentro de éstas, la mayoría extrasístoles ventriculares (18 pacientes. No hubo fallecidos durante el transoperatorio.In spite of the advances achieved by the surgical techniques for the total repair of congenital cyanotic heart defects in the last decade, some patients still need palliative surgical procedures during the first months of life. A retrospective study of 160 patients that were operated on by using Blalock-Taussig palliative technique at the Heart Center of "William Soler" Pediatric Teaching Hospital, from 1990 to 1993, was conducted. 120 patients suffered from Tetralogy of Fallot, 35 from pulmonary atresia, and the other 5 from transposition of great vessels. Fentanyl was the most used agent in the induction and maintenance of anesthesia and it produced a high hemodynamic stability. The most common transoperative complications were cardiac arrhytmias (25 patients, 15.6 % and, within them, the most were ventricular extrasystoles (18 patients. There were no deaths during the transoperative.

  19. Bradomín and the Ironies of Evil: A Reconsideration of Sonata de primavera

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    Sumner M. Greenfield

    1977-09-01

    Full Text Available Of the four novels that form Valle-Inclán's tetralogy of seasonal Sonatas , the most problematical and dissonant is the springtime segment, which is the third in the order of composition. Valle-Inclán uncharacteristically subordinates seasonal esthetics in favor of a peculiarly ironic manipulation of the theme of conflict between good and evil set in an Italian context redolent of the Renaissance and rife with religious fanaticism. The ingrained theatricality of the young Marqués de Bradomín leads him to affect the pose of a "devilish" don Juan in order to break down the defenses of a young would-be nun who seems destined for sainthood. His juvenile posturing, however, is subverted by his immaturity and lack of self-assurance. The reinforcement of his will is brought about by the intervention of an authentic surrogate of Satan who uses him as an unwitting pawn in a confrontation with the budding saint. Evil eventually conquers Good, but the irony of his having been used is inevitably lost on Bradomín, whose perception of the world is based on himself as legend rather than on historical truth. The reaffirmation of the Sonatas as a triumph of the "poetic lie" is the primary way in which the Primavera sustains the unity of the tetralogy.

  20. [Late potentials and ventricular arrhythmia].

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    Adamec, R; Zimmermann, M

    1986-04-01

    When electrodes are placed at the surface of the thorax, high-amplification electrocardiography (HA-ECG) combined with signal summation as a function of time provides a non-invasive method for detecting electric potentials occurring after the QRS complex of the clinical electrocardiogram. These potentials are called late, and can probably be likened to the "divided" or "fragmented" potentials recorded directly on the heart or in its ventricles near zones of ischemia, infarction or aneurysm. The prevalence of late potentials of ventricular activation (LPVA) and their association with the occurrence of ventricular arrhythmias seems well established, notably in the presence of ventricular aneurysm and anamnesis of severe ventricular arrhythmia. Some studies have shown that detection of LPVAs is of value in identifying heart patients at risk of ventricular arrhythmia or sudden death. Heart disease aside, the presence of LPVAs has been demonstrated in arrhythmogenic right ventricular dysplasia and reported in Fallot's tetralogy after complete correction. A standardization of recordings and a more precise definition of LPVAs are necessary before HA-ECG can become a routine clinical method. Further, the possibility of "beat by beat" recordings with "spatial" summation will allow detection of LPVAs which vary with time and in nature and hence provide a better understanding of the genesis of ventricular arrhythmias.

  1. Coronary artery fistulas

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    V. M. Subbotin

    2015-01-01

    Full Text Available Coronary artery fistulas are classified as abnormalities of termination and referred to as major congenital anomalies. Most coronary artery fistulas are small, unaccompanied by clinical symptoms, and diagnosed by echocardiography or coronarography performed for an unrelated cause. Such fistulas usually do not cause any complications and can spontaneously resolve. However, larger fistulas are usually >3 tones the size of a normal caliber of a coronary artery and may give rise to clinical symptoms in these cases. The clinical symptoms of coronary artery fistulas may mimic those of various heart diseases depending on which chamber a fistula drains into. Most fistulas are congenital. Congenital coronary artery fistulas may occur as an isolated malformation or be concurrent with other cardiac anomalies, more frequently with critical pulmonary stenosis or atresia with an intact interventricular septum and pulmonary stenoses, Fallot's tetralogy, aortic coarctation, and left heart hypoplasia. When choosing a treatment modality, one should take into account the number of fistula communications, the feeding vessel, localization of drainage, degree of myocardial damage, and hemodynamic relevance of the shunt caused by the presence of a fistula. The goal of treatment is to obliterate a fistula by preserving normal coronary blood flow. The risk for persisting fistula should be balanced with the potential risk of complications related to a procedure of coronarography and fistula occlusion. Percutaneous transcatheter coil occlusion of coronary artery fistulas is the modality of choice in children with the suitable anatomy of fistula communications and without concomitant congenital heart diseases.

  2. Amebic liver abscess in Iranian children

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    Khotaii Gh

    2003-05-01

    Full Text Available Although amebic liver abscess can be a cause of significant morbidity and mortality in all ages, there are few reports dealing with this entity in children. Twenty-four children with amebic liver abscess. Ages ranging between 8 weeks and 14.5 years were managed at the Tehran university hospital of children, Iran, between November 1987, and October 2001. The most frequency presentation was high-grade fever and right upper quadrant pain, associated with tender hepatomegaly, leukocytosis and an elevated erythrocyte sedimentation rate. The diagnosis was confirmed by elevated indirect hemagglutination titers and ultrasonograpy of the liver. Unlike the experience in adult patients, none of the patients had concomitant jaundice and significant derangement of liver enzymes. The abscesses were likely to be solitary (22 of 24 patients. There were 17 males and 7 females. Most patients (80% were between 8 weeks to 14.5 years of age. In five patients possible predisposing factors were tuberculosis, chickenpox, tetralogy of fallot and thalassemia major. All patients received metronidazole (50 mg/kg/day, followed by a therapeutic course of a luminal amebicide. There was no death despite a mean delay of 15 days before presentation to our hospital. In conclusion a high index of suspicion, early institution of metronidazole therapy and aspiration of abscesses with potential to rupture are believed to have contributed to the better outcome in these children when compared with results in previous reports.

  3. Arthrogryposis - case report

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    Mariana CEVEI

    2008-05-01

    Full Text Available Arthrogryposis is a congenital disorder characterized by multiple joint contractures found throughout the body at birth. We present the case of a 3.5 year-old girl with multiple congenital defects: arthrogryposis involving bilateral hip, knee and ankle joints, together with sacral agenesis and with lumbar dysmorphism, anorectal agenesis, hydronephrosis of the left kidney as the result from reflux, right kidney hypoplasia, renal fusion and heart anomalies: tetralogy of Fallot. Immediately after birth, in several steps, colostomy, left ureterocystoneostomy and suprapubic cystostomy were performed. Later in infancy corrective surgery for the heart defect was required. At the age of 2 years, surgery for the equinovarus deformities and for left genu flexum was performed. Medical rehabilitation tries to maximize independent function. The main goals were increasing the muscle tonus of upper-limbs, increase the rate of motion of the joints, establishment of stability for ambulation, learning different schemes of movement according to her needs, obtaining of a functional independency. The therapies were successful, after 10 weeks an improvement of the moving capacity and of the transfer in orthostatism with minimal external assistance, with the obvious increasing of the patient's satisfaction, were noticed.

  4. Congenital heart disease in 37,294 births in Tunisia: birth prevalence and mortality rate.

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    Abid, Dorra; Elloumi, Anis; Abid, Leila; Mallek, Souad; Aloulou, Hajer; Chabchoub, Imen; Bouraoui, Amira; Thabet, Afef; Gargouri, Lamia; Zribi, Malek; Yaich, Sourour; Hachicha, Mongia; Gargouri, Abdellatif; Mahfoudh, Abdelmajid; Maatoug, Samir; Dammak, Jamel; Kammoun, Samir

    2014-10-01

    To investigate the previously unknown birth incidence, treatment, and mortality of children with congenital heart disease in Tunisia. We undertook a retrospective review of medical records of all patients who were born in 2010 and 2011, and were diagnosed in Sfax (Tunisia) with congenital heart defect. Among 37,294 births, 255 children were detected to have congenital heart disease, yielding a birth incidence of 6.8 per 1000. The most frequently occurring conditions were ventricular septal defects (31%), ostium secundum atrial septal defects (12.9%), and pulmonary valve abnormalities (12%). Coarctation of the aorta, tetralogy of Fallot, univentricular physiology, pulmonary atresia with ventricular septal defect, and transposition of the great arteries were found in 4.3%, 6.2%, 3.4%, 2.7%, and 2.7%, respectively. During the follow-up of 1 year, 23% of the children died. About three-quarters of those deaths happened before surgery. The present study is in line with the general estimates in the world. It has revealed a high case of mortality among the patients awaiting corrective surgery. These children need more facilities.

  5. [Double aortic arch: prenatal case report].

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    Budziszewska, Patrycja; Kuka, Dorota; Sodowski, Marcin; Sodowski, Krzysztof; Jeanty, Philippe; Skrzypulec, Violetta

    2009-09-01

    We have presented a case of prenatal double aortic arch, diagnosed by ultrasound, to demonstrate the importance of 3-vessel view by detecting aortic arch abnormalities. Double aortic arch is one the most common types of the vascular ring. The suspicion of a double aortic arch is raised by detecting the U-sign which is formed by the combination of both aortic arches and the left ductus arteriosus. In the 3-vessel view the ascending aorta and aortic arch are pointing to the right, whereas the left arch points to the left, and the trachea is seen between. The 4-chamber view appears normal, but the descending aorta is deviated medially. Literature review revealed an association between double aortic arch and congenital heart diseases in approximately 20% of cases; most often tetralogy of Fallot, transposition of great vessels, ventricular septal defects. Rarely there can be atresia of the segment of the aortic arch, which can be difficult to differentiate from other aortic arch anomalies associated with chromosomal abnormalities such as microdeletion of chromosome 22q11.

  6. Arrhythmias in adult congenital heart disease: the year in review.

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    Mondésert, Blandine; Abadir, Sylvia; Khairy, Paul

    2013-05-01

    Management of arrhythmias is an integral component of care for adults with congenital heart disease (CHD). Our objective was to highlight the important advances from the year 2012 regarding arrhythmias in adult CHD, with a focus on diagnostic considerations, acute management, catheter ablation, and device therapy. During the course of 2012, Holter studies suggested that routine screening was helpful in guiding the clinical decisions for certain patient subgroups, such as adults with tetralogy of Fallot. Supportive evidence was provided for the common practice of anticoagulation and/or screening for intracardiac thrombosis by transesophageal echocardiography prior to electrically cardioverting atrial tachyarrhythmias. Advances in catheter ablation, particularly robotic magnetic navigation, offer new hope for patients in whom access to arrhythmia substrates is not feasible by standard means. The subcutaneous defibrillator emerged as an innovative solution of great interest to the patients at risk of sudden death in whom transvenous lead implantation is unachievable or contraindicated. Finally, 2012 ended with a major milestone: the establishment of physician certification in adult CHD by the American Board of Medical Specialties. The year 2012 witnessed important advances in the diagnosis and management of arrhythmias in adults with CHD.

  7. Sleep-Disordered Breathing in Patients with Pulmonary Valve Incompetence Complicating Congenital Heart Disease.

    Science.gov (United States)

    Miles, Susan; Ahmad, Waheed; Bailey, Amy; Hatton, Rachael; Boyle, Andrew; Collins, Nicholas

    2016-12-01

    Long standing pulmonary regurgitation results in deleterious effects on right heart size and function with late consequences of right heart volume overload including ventricular dilatation, propensity to arrhythmia and right heart failure. As sleep disordered breathing may predispose to elevations in pulmonary vascular resistance and associated negative effects on right ventricular function, we sought to assess this in patients with underlying congenital heart disease. We performed a pilot study to evaluate the incidence of sleep-disordered breathing in a patient population with a history of long standing pulmonary valve incompetence in patients with congenital heart disease using overnight oximetry. Patients with a background of tetralogy of Fallot repair or residual pulmonary incompetence following previous pulmonary valve intervention for congenital pulmonary stenosis were included. Twenty-two patients underwent overnight oximetry. The mean age of the cohort was 34.3 ± 15.2 years with no patients observed to have severe underlying pulmonary hypertension. Abnormal overnight oximetry was seen in 13/22 patients (59.1%) with 2/22 (9.1%) patients considered to have severe abnormalities. An important proportion of patients with a background of pulmonary incompetence complicating congenital heart disease are prone to the development of sleep-disordered breathing as assessed by overnight oximetry. Further study into the prevalence and mechanisms of sleep-disordered breathing in a larger cohort are warranted. © 2016 Wiley Periodicals, Inc.

  8. Adolescents and Adults with Congenital Heart Diseases in Oman

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    Asim Al-Balushi

    2015-01-01

    Full Text Available Objectives: The aim of our study was to examine the spectrum, demographics, and mortality rate among adolescents and adults with congenital heart diseases (CHD in Oman. Methods: Data was collected retrospectively from the Royal Hospital, Muscat, electronic health records for all patients with a diagnosis of CHD aged 13 years and above. Data was analyzed according to the type of CHD and in-hospital mortality was assessed using Kaplan-Meier survival analysis. Results: A total of 600 patients with CHD were identified, among them 145 (24% were aged 18 years or below. The median age was 24 years. The majority of patients had a simple form of CHD. Atrial and ventricular septal defects together constituted 62.8% of congenital heart diseases. Most patients were clustered in Muscat (32% and the Batinah regions (31.1% of Oman. Patients with tetralogy of Fallot and Fontan had shorter survival time than recorded in the published literature. Conclusion: Mostly simple forms of CHD in younger patients was observed. The survival rate was significantly shortened in more complex lesions compared to simple lesions. A national data registry for CHD is needed to address the morbidities and mortality associated with the disease.

  9. Utilizing a Collaborative Learning Model to Promote Early Extubation Following Infant Heart Surgery.

    Science.gov (United States)

    Mahle, William T; Nicolson, Susan C; Hollenbeck-Pringle, Danielle; Gaies, Michael G; Witte, Madolin K; Lee, Eva K; Goldsworthy, Michelle; Stark, Paul C; Burns, Kristin M; Scheurer, Mark A; Cooper, David S; Thiagarajan, Ravi; Sivarajan, V Ben; Colan, Steven D; Schamberger, Marcus S; Shekerdemian, Lara S

    2016-10-01

    To determine whether a collaborative learning strategy-derived clinical practice guideline can reduce the duration of endotracheal intubation following infant heart surgery. Prospective and retrospective data collected from the Pediatric Heart Network in the 12 months pre- and post-clinical practice guideline implementation at the four sites participating in the collaborative (active sites) compared with data from five Pediatric Heart Network centers not participating in collaborative learning (control sites). Ten children's hospitals. Data were collected for infants following two-index operations: 1) repair of isolated coarctation of the aorta (birth to 365 d) and 2) repair of tetralogy of Fallot (29-365 d). There were 240 subjects eligible for the clinical practice guideline at active sites and 259 subjects at control sites. Development and application of early extubation clinical practice guideline. After clinical practice guideline implementation, the rate of early extubation at active sites increased significantly from 11.7% to 66.9% (p collaborative learning strategy designed clinical practice guideline significantly increased the rate of early extubation with no change in the rate of reintubation. The early extubation clinical practice guideline did not significantly change postoperative ICU length of stay.

  10. Autonomic regulation in fetuses with congenital heart disease.

    Science.gov (United States)

    Siddiqui, Saira; Wilpers, Abigail; Myers, Michael; Nugent, J David; Fifer, William P; Williams, Ismée A

    2015-03-01

    Exposure to antenatal stressors affects autonomic regulation in fetuses. Whether the presence of congenital heart disease (CHD) alters the developmental trajectory of autonomic regulation is not known. This prospective observational cohort study aimed to further characterize autonomic regulation in fetuses with CHD; specifically hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and tetralogy of Fallot (TOF). From 11/2010 to 11/2012, 92 fetuses were enrolled: 41 controls and 51 with CHD consisting of 19 with HLHS, 12 with TGA, and 20 with TOF. Maternal abdominal fetal electrocardiogram (ECG) recordings were obtained at 3 gestational ages: 19-27 weeks (F1), 28-33 weeks (F2), and 34-38 weeks (F3). Fetal ECG was analyzed for mean heart rate along with 3 measures of autonomic variability of the fetal heart rate: interquartile range, standard deviation, and root mean square of the standard deviation of the heart rate (RMSSD), a measure of parasympathetic activity. During F1 and F2 periods, HLHS fetuses demonstrated significantly lower mean HR than controls (pHeart rate variability at F3, as measured by standard deviation, interquartile range, and RMSSD was lower in HLHS than controls (p<0.05). Other CHD subgroups showed a similar, though non-significant trend towards lower variability. Autonomic regulation in CHD fetuses differs from controls, with HLHS fetuses most markedly affected. Copyright © 2015 Elsevier Ltd. All rights reserved.

  11. Facial dysmorphologic and skeletal cephalometric findings associated with conotruncal cardiac anomalies. off.

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    Bell, R A; Arensman, F W; Flannery, D B; Ussery, T W; Moss, R B

    1990-01-01

    Anomalous conotruncal cardiac morphology and facial dysmorphology have been associated with neural crest-pharyngeal arch abnormalities. To assess these associations, 20 patients 3 to 18 years old with tetralogy of Fallot (TOF) or persistent truncus arteriosus (PTA) were evaluated by cardiologic, facial dysmorphic, and cephalometric criteria. The average number of facial abnormalities of neural crest derivation was two, while pharyngeal arch derivative abnormalities were observed with an average of five defects per subject. The total group had many more facial malformations than normal populations (P less than .00001). The occurrence of defects was not significantly different between TOF and PTA patients. Thirteen TOF patients 8 years, 9 months to 18 years, 10 months old (x = 13 years, 4 months) had lateral cephalograms analyzed for skeletal relationships. The TOF patients exhibited higher than usual distribution of dolichofacial growth patterns (6 of 13), Class II skeletal relationships (6 of 13), mandibular retrusion (7 of 13), and maxillary protrusion (6 of 13). Trends were not absolute, since opposite patterns were individually expressed, and referencing by race tended to show more normal values for respective groups.

  12. 2013 update on congenital heart disease, clinical cardiology, heart failure, and heart transplant.

    Science.gov (United States)

    Subirana, M Teresa; Barón-Esquivias, Gonzalo; Manito, Nicolás; Oliver, José M; Ripoll, Tomás; Lambert, Jose Luis; Zunzunegui, José L; Bover, Ramon; García-Pinilla, José Manuel

    2014-03-01

    This article presents the most relevant developments in 2013 in 3 key areas of cardiology: congenital heart disease, clinical cardiology, and heart failure and transplant. Within the area of congenital heart disease, we reviewed contributions related to sudden death in adult congenital heart disease, the importance of specific echocardiographic parameters in assessing the systemic right ventricle, problems in patients with repaired tetralogy of Fallot and indication for pulmonary valve replacement, and confirmation of the role of specific factors in the selection of candidates for Fontan surgery. The most recent publications in clinical cardiology include a study by a European working group on correct diagnostic work-up in cardiomyopathies, studies on the cost-effectiveness of percutaneous aortic valve implantation, a consensus document on the management of type B aortic dissection, and guidelines on aortic valve and ascending aortic disease. The most noteworthy developments in heart failure and transplantation include new American guidelines on heart failure, therapeutic advances in acute heart failure (serelaxin), the management of comorbidities such as iron deficiency, risk assessment using new biomarkers, and advances in ventricular assist devices. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  13. Cardiopulmonary bypass considerations for pediatric patients on the ketogenic diet.

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    Melchior, R W; Dreher, M; Ramsey, E; Savoca, M; Rosenthal, T

    2015-07-01

    There is a population of children with epilepsy that is refractory to anti-epileptic drugs. The ketogenic diet, a high-fat, low-carbohydrate regimen, is one alternative treatment to decrease seizure activity. Special considerations are required for patients on the ketogenic diet undergoing cardiopulmonary bypass (CPB) to prevent exposure to glucose substrates that could alter ketosis, increasing the risk of recurrent seizures. A 2-year-old, 9 kilogram male with a history of infantile spasms with intractable epilepsy, trisomy 21 status post tetralogy of Fallot repair, presented to the cardiac operating room for closure of a residual atrial septal defect. All disciplines of the surgical case minimized the use of carbohydrate-containing and contraindicated medications. Changes to the standard protocol and metabolic monitoring ensured the patient maintained ketosis. All disciplines within cardiac surgery need to be cognizant of patients on the ketogenic diet and prepare a modified protocol. Future monitoring considerations include thromboelastography, electroencephalography and continuous glucose measurement. Key areas of focus with this patient population in the cardiac surgical theater are to maintain a multidisciplinary approach, alter the required CPB prime components, address cardiac pharmacological concerns and limit any abnormal hematological occurrences. © The Author(s) 2014.

  14. Arrhythmias in Children in Early Postoperative Period After Cardiac Surgery.

    Science.gov (United States)

    Sahu, Manoj Kumar; Das, Anupam; Siddharth, Bharat; Talwar, Sachin; Singh, Sarvesh Pal; Abraham, Atul; Choudhury, Arin

    2018-01-01

    Postoperative arrhythmias are a known complication after cardiac surgical repairs for congenital heart disease. Data were reviewed pertaining to incidence, diagnosis, potential risk factors, and management of postoperative arrhythmias in 369 consecutive patients under 18 years of age, undergoing elective open heart surgery. All children were admitted to the intensive care unit and continuous electrocardiographic monitoring was performed. Patient factors such as Aristotle Basic Complexity Score, total surgical duration, hypotension, tachycardia, serum lactate level, and inotropic score were analyzed. Univariate analysis was done to assess associations between these factors and the occurrence of postoperative arrhythmias. Twenty-five (6.7%) patients developed arrhythmias. Junctional ectopic tachycardia (JET) was the most common arrhythmia occurring in 15 (60%) patients, followed by supraventricular tachycardia in 3 (12%), ventricular premature contractions in 3 (12%), hemodynamically unstable ventricular tachycardia and fibrillation in 3 (12%), and atrial fibrillation in 1 (4%) patient. Different grades of heart block were noted in 13 patients. Aristotle score (P = .014), total surgical duration (P postoperative period were associated with arrhythmia occurrence. Surgeries for ventricular septal defect alone or in association with other diseases including tetralogy of Fallot (TOF) and transposition of the great arteries (TGA) were found to be associated with higher risk of arrhythmias. This study showed a low incidence of arrhythmias, JET being the commonest, seen more in TOF repair and these could be treated efficiently. Higher Aristotle score, longer surgical time, hypotension, tachycardia, high inotropic score, and high serum lactate levels were associated with the occurrence of arrhythmias postoperatively.

  15. Wnt11 regulates cardiac chamber development and disease during perinatal maturation.

    Science.gov (United States)

    Touma, Marlin; Kang, Xuedong; Gao, Fuying; Zhao, Yan; Cass, Ashley A; Biniwale, Reshma; Xiao, Xinshu; Eghbali, Mansuoreh; Coppola, Giovanni; Reemtsen, Brian; Wang, Yibin

    2017-09-07

    Ventricular chamber growth and development during perinatal circulatory transition is critical for functional adaptation of the heart. However, the chamber-specific programs of neonatal heart growth are poorly understood. We used integrated systems genomic and functional biology analyses of the perinatal chamber specific transcriptome and we identified Wnt11 as a prominent regulator of chamber-specific proliferation. Importantly, downregulation of Wnt11 expression was associated with cyanotic congenital heart defect (CHD) phenotypes and correlated with O2 saturation levels in hypoxemic infants with Tetralogy of Fallot (TOF). Perinatal hypoxia treatment in mice suppressed Wnt11 expression and induced myocyte proliferation more robustly in the right ventricle, modulating Rb1 protein activity. Wnt11 inactivation was sufficient to induce myocyte proliferation in perinatal mouse hearts and reduced Rb1 protein and phosphorylation in neonatal cardiomyocytes. Finally, downregulated Wnt11 in hypoxemic TOF infantile hearts was associated with Rb1 suppression and induction of proliferation markers. This study revealed a previously uncharacterized function of Wnt11-mediated signaling as an important player in programming the chamber-specific growth of the neonatal heart. This function influences the chamber-specific development and pathogenesis in response to hypoxia and cyanotic CHDs. Defining the underlying regulatory mechanism may yield chamber-specific therapies for infants born with CHDs.

  16. Hemadsorption with Adult CytoSorb® in a Low Weight Pediatric Case

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    Catalin Gabriel Cirstoveanu

    2017-01-01

    Full Text Available Cytokine adsorber (CytoSorb has been used successfully as adjunctive treatment for adult patients with elevated cytokine levels in the setting with severe sepsis and septic shock and to reduce blood myoglobin, unconjugated bilirubin, and conjugated bilirubin. In this article we present the case of a nine-month-old male infant who was admitted to the NICU due to sepsis after cardiac surgery, Fallot tetralogy, and multisystem organ failure (MSOF including liver failure and renal failure which was successfully treated by a combination of continuous hemodiafiltration (HDF and hemadsorption with CytoSorb. HDF was safe and effective from the first day for urea removal, but the patient’s bilirubin levels kept increasing gradually, culminating on the 9th day with a maximum value of 54 mg/dL of total bilirubin and 31.67 mg/dL of direct bilirubin when we performed hemadsorption with CytoSorb. Over the 49-hour period of hemadsorption, the total bilirubin value decreased from 54 to 14 mg/dL, and the patient’s general status improved considerably accompanied by a rapid drop of aminotransferases. Hemodynamic status has been improved as well and inotropes dropped rapidly. The patient’s ventilation settings improved during CytoSorb treatment permitting weaning the patient from mechanical ventilation after five days of hemadsorption. The patient was discharged home after 34 days of hospitalization, in a good general status.

  17. A genetic contribution to risk for postoperative junctional ectopic tachycardia in children undergoing surgery for congenital heart disease.

    Science.gov (United States)

    Borgman, Kristie Y; Smith, Andrew H; Owen, Jill P; Fish, Frank A; Kannankeril, Prince J

    2011-12-01

    Junctional ectopic tachycardia (JET) is a common arrhythmia complicating pediatric cardiac surgery, with many identifiable clinical risk factors but no genetic risk factors to date. To test the hypothesis that the angiotensin-converting enzyme insertion/deletion (ACE I/D) polymorphism associates with postoperative JET. DNA samples were collected from children undergoing the Norwood procedure; arterial switch operation; and repairs of Tetralogy of Fallot, balanced atrioventricular septal defect, and ventricular septal defect at a single center. The incidence of postoperative JET was associated with previously identified clinical risk factors and ACE I/D genotype. Of the 174 children who underwent the above-mentioned surgeries, 21% developed JET. Postoperative JET developed in 31% of children with the D/D genotype but only in 16% of those with the I/I genotype or the I/D genotype (P = .02). Clinical predictors of JET were selected a priori and included age, inotrope score, cardiopulmonary bypass time, and cross-clamp time. Multivariable logistic regression identified a significant correlation between the D/D genotype and postoperative JET independent of these predictors (odds ratio = 2.4; 95% confidence interval, 1.04-5.34; P = .04). A gene-dose effect was apparent in the homogeneous subset of subjects with atrioventricular septal defect (58% JET in D/D subjects, 12% JET in I/D subjects, and 0% JET in I/I subjects; P Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  18. Hybrid pulmonary artery plication followed by transcatheter pulmonary valve replacement: Comparison with surgical PVR.

    Science.gov (United States)

    Sosnowski, Cyndi; Matella, Thomas; Fogg, Louis; Ilbawi, Michel; Nagaraj, Hosakote; Kavinsky, Clifford; Wolf, Andrew R; Diab, Karim; Caputo, Massimo; Kenny, Damien

    2016-11-01

    Objective/Background Historically, the sole option for patients with a dysfunctional native right ventricular outflow tract (RVOT) requiring re-establishment of pulmonary competence has been surgical PVR. We sought to compare early outcomes of hybrid pulmonary valve replacement (PVR) combining surgical plication of the main pulmonary artery followed by transcatheter PVR, with a contemporary cohort of surgical PVR patients. Methods Retrospective chart analysis of all patients with a dilated native RVOT eligible for surgical PVR over 36 months was performed. The cohorts included patients with previous tetralogy of Fallot repair (n = 14), and previous intervention for congenital abnormality of the pulmonary valve (n = 7). Results Twenty-one patients with a dysfunctional native RVOT met criteria for PVR; 8 using the hybrid procedure (group 1: age, 31.5 +/- 17.4 years) and 13 with cardiopulmonary bypass (CPB) (group 2: age, 31 +/- 18.4 years). Valve delivery was successful in all patients with no procedural mortality. Group 1 had a lesser requirement for blood products (P =hybrid PVR following RVOT plication provides a reasonable alternative to surgical PVR particularly in higher risk cohorts, reducing possible longer-term consequences of repeated runs of CPB. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  19. Endobronchial ultrasound in a patient with right aortic arch.

    Science.gov (United States)

    Alraiyes, Abdul Hamid; Alokla, Khalid; Kheir, Fayez; Palomino, Jaime

    2014-01-01

    A right-sided aortic arch (RAA) is a rare anomaly of the cardiovascular system, presenting in only 0.1% of the population. In some reported cases, RAA is accompanied by another cyanotic vascular anomaly such as tetralogy of Fallot, and patients with such anomalies are usually diagnosed in fetal life or early childhood. Most patients are asymptomatic if the RAA presents individually. We report the case of a 27-year-old African American man who presented to urgent care with 3 weeks of progressive dry cough with mild shortness of breath, low-grade fevers, and night sweats. He was not on any medication. Radiographic examination of the chest showed a right paratracheal mass displacing the trachea to the left, suggesting a vascular anomaly with mediastinal adenopathy. Radiographic images suggested either lymphoma or chronic granulomatous disease, and the patient underwent endobronchial ultrasound bronchoscopy under general anesthesia. He was ultimately diagnosed with sarcoidosis. Endobronchial ultrasound with real-time guided transbronchial needle aspiration played a significant role in obtaining a sufficient tissue sample to make the diagnosis with minimal side effects, despite the presence of the RAA anomaly.

  20. Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Cascella, Marco; Muzio, Maria Rosaria

    2015-01-01

    Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. Increased myocardial methionine-enkephalin with reduced arterial oxygenation in congenital heart disease.

    Science.gov (United States)

    van den Brink, Olivier W V; Cochrane, Andrew D; Rosenfeldt, Franklin L; Penny, Daniel J; Pepe, Salvatore

    2014-10-01

      Cardiac opioid peptides have been identified to exert important adaptive metabolic signalling for cardioprotection against ischaemia or hypoxia-related injury.   To determine myocardial methionine-enkephalin content in children with hypoxemic congenital heart defects and to correlate myocardial content of methionine-enkephalin with the extent of arterial oxygen desaturation.   Children (n= 20, median age of 16 months), undergoing cardiac surgical repair (tetralogy of Fallot, 17/20), were included in this study. Arterial oxygen saturation was measured on admission. Myocardial samples obtained during surgery were assayed via radioimmunochemistry for methionine-enkephalin content.   Greater methionine-enkephalin content was measured in the right ventricles of the patients suffering from recent cyanotic spells compared with those with no recent spells (cyanotic spells: 2418 ± 844 pg/g wet weight tissue, n= 6; no spells: 1175 ± 189 pg/g wet weight tissue, n= 14, P= 0.04). An inverse correlation was evident between the arterial oxygen saturation and myocardial methionine-enkephalin content.   Myocardial methionine-enkephalin levels increase with the severity of hypoxic stress in congenital cardiac disease and may play an important adaptive role in countering adrenergic over-activity and related excess demand on myocardial metabolic capacity. © 2010 The Authors. Journal compilation © 2010 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  2. Computational modeling and engineering in pediatric and congenital heart disease.

    Science.gov (United States)

    Marsden, Alison L; Feinstein, Jeffrey A

    2015-10-01

    Recent methodological advances in computational simulations are enabling increasingly realistic simulations of hemodynamics and physiology, driving increased clinical utility. We review recent developments in the use of computational simulations in pediatric and congenital heart disease, describe the clinical impact in modeling in single-ventricle patients, and provide an overview of emerging areas. Multiscale modeling combining patient-specific hemodynamics with reduced order (i.e., mathematically and computationally simplified) circulatory models has become the de-facto standard for modeling local hemodynamics and 'global' circulatory physiology. We review recent advances that have enabled faster solutions, discuss new methods (e.g., fluid structure interaction and uncertainty quantification), which lend realism both computationally and clinically to results, highlight novel computationally derived surgical methods for single-ventricle patients, and discuss areas in which modeling has begun to exert its influence including Kawasaki disease, fetal circulation, tetralogy of Fallot (and pulmonary tree), and circulatory support. Computational modeling is emerging as a crucial tool for clinical decision-making and evaluation of novel surgical methods and interventions in pediatric cardiology and beyond. Continued development of modeling methods, with an eye towards clinical needs, will enable clinical adoption in a wide range of pediatric and congenital heart diseases.

  3. Implant and clinical characteristics for pediatric and congenital heart patients in the national cardiovascular data registry implantable cardioverter defibrillator registry.

    Science.gov (United States)

    Jordan, Christopher P; Freedenberg, Vicki; Wang, Yongfei; Curtis, Jeptha P; Gleva, Marye J; Berul, Charles I

    2014-12-01

    In 2010, the National Cardiovascular Data Registry enhanced pediatric, nonatherosclerotic structural heart disease and congenital heart disease (CHD) data collection. This report characterizes CHD and pediatric patients undergoing implantable cardioverter defibrillator implantation. In this article, we report implantable cardioverter defibrillator procedures (April 2010 to December 2012) in the registry for 2 cohorts: (1) all patients with CHD (atrial septal defect, ventricular septal defect, tetralogy of Fallot, Ebstein anomaly, transposition of the great vessels, and common ventricle) and (2) patients Heart Association class. There were 3139 CHD procedures, 1601 for patients Pediatric patients had 935 (58.4%) primary prevention and 588 (36.7%) secondary prevention devices. Primary prevention had higher New York Heart Association class. Nontransvenous age (35.9 ± 23.2 versus 40.1 ± 24.6 years; P=0.05) and nontransvenous height (167.1 ± 18.9 cm; range, 53-193 cm versus 170.4 ± 13.1 cm; range, 61-203 cm; Ppediatrics had similar rates of transvenous (97%) and nontransvenous (3%) leads and did not differ from the overall registry. Transposition of the great vessels and common ventricle had higher rates of nontransvenous leads. Primary prevention exceeds secondary prevention for CHD and pediatrics. Nontransvenous lead patients were younger, with higher rates of transposition of the great vessels and common ventricle patients compared with transvenous lead patients. © 2014 American Heart Association, Inc.

  4. Fetal cerebrovascular resistance and neonatal EEG predict 18-month neurodevelopmental outcome in infants with congenital heart disease.

    Science.gov (United States)

    Williams, I A; Tarullo, A R; Grieve, P G; Wilpers, A; Vignola, E F; Myers, M M; Fifer, W P

    2012-09-01

    The purpose of this study was to investigate early markers of risk for neurobehavioral compromise in survivors with congenital heart disease (CHD). Pregnant women in whom a fetal CHD had been diagnosed before 24 weeks' gestational age (GA) were enrolled in this prospective pilot study for serial Doppler ultrasound assessment of the fetal middle cerebral artery (MCA) and umbilical arteries. The cerebral-to-placental resistance ratio (CPR) and MCA pulsatility index (PI) Z-scores for GA were calculated. After birth, subjects underwent high-density (128-lead) electroencephalography (EEG), and beta frequency (12-24 Hz) band EEG power, a measure of local neural synchrony, was analyzed. Neurodevelopment was assessed at 18 months with the Bayley Scales of Infant Development (BSID)-III. Thirteen subjects were enrolled: four with hypoplastic left heart syndrome (HLHS), four with transposition of the great arteries (TGA) and five with tetralogy of Fallot (TOF). Compared with subjects with normal CPR, those with CPR power. Furthermore, fetal Doppler measures were associated with EEG power: fetuses with CPR power as newborns than did fetuses with normal CPR, and fetal MCA-PI Z-score correlated with neonatal EEG left frontal polar (r = 0.596, P = 0.04) and left frontal (r = 0.598, P = 0.04) beta power. In fetuses with HLHS, TGA and TOF, abnormal cerebrovascular resistance predicts decreased neonatal EEG left frontal beta power and lower 18-month cognitive development scores. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.

  5. Sports participation in adults with congenital heart disease.

    Science.gov (United States)

    Opić, Petra; Utens, Elisabeth M W J; Cuypers, Judith A A E; Witsenburg, Maarten; van den Bosch, Annemien; van Domburg, Ron; Bogers, Ad J J C; Boersma, Eric; Pelliccia, Antonio; Roos-Hesselink, Jolien W

    2015-01-01

    It is unclear whether sports participation in adults with repaired congenital heart disease is safe and has benefits. Congenital heart disease (ConHD) patients who underwent corrective surgery for Atrial Septal Defect, Ventricular Septal Defect, Pulmonary Stenosis, Tetralogy of Fallot or Transposition of the Great Arteries in our center between 1968 and 1980 were included, and participated in our longitudinal follow-up study with serial evaluations in 2001 and 2011. At both time points patients filled in questionnaires on sports participation, subjective physical functioning and quality of life. Exercise testing, echocardiogram and 24-hour continuous ambulatory ECG-monitoring were performed in both 2001 and 2011. All clinical events (re-intervention, arrhythmia, heart failure) were prospectively recorded. No relationship was found between practicing sports and the occurrence of sudden death, PVCs or SVTs. Patients with moderate/complex forms of ConHD practiced fewer hours of sports compared with the general Dutch normative population. Patients with both simple and moderate/complex ConHD who practiced sports showed a higher exercise capacity. More favorable subjective physical functioning was found for moderate/complex patients who practiced sports. Adults with repaired ConHD are less often involved in sports than the Dutch general population. The patients that were engaged in sports show a higher exercise capacity than those who did not. Sports participation in patients with ConHD was not associated with an increased incidence of adverse cardiac events. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  6. Shprintzen (velo-cardio-facial) syndrome: a rare case.

    Science.gov (United States)

    Alkan, Tijen; Akçevin, Atf; Türkoglu, Halil; Paker, Tufan; Aytaç, Aydn

    2006-01-01

    Shprintzen syndrome (velo-cardio-facial, VCFS) is a very rare morbid entity, seen in either familial or sporadic forms, with major clinical findings such as facial dysmorphism, cleft palate, cardiovascular (especially conotruncal-anomalies), mild/moderate mental retardation, or, more commonly, observed learning difficulty. Tendency to behavioral disorders and bipolar schizophrenic diseases may be present in these cases. Autosomal dominant inheritance has been reported. VCFS appears as a consequence of microdeletion in the 22q11 chromosomal band. Although each syndrome has different clinical reflections, genetically the defect is located on the same chromosome.A 4-year-old boy was admitted to our clinic with a syndromic face and the diagnosis of tetralogy of Fallot. The patient underwent total correction of the cardiac defect. Atypical facial appearance, cleft palate, and malformed hand-fingers were present. With the aid of pediatric and genetic consultation (fluorescence in situ hybridization test), Shprintzen syndrome was confirmed. Both early and late postoperative periods of the patient were uneventful. The patient was closely consulted by a specialist psychologist during and after the hospitalization period. These children can be integrated into social life earlier through early surgical intervention for cardiac defects and facial deformations as well as neurologic and/or neuropsychiatric evaluation.

  7. Postoperative Atypical Hemolytic Uremic Syndrome Associated with Complement C3 Mutation

    Directory of Open Access Journals (Sweden)

    Eiji Matsukuma

    2014-01-01

    Full Text Available Atypical hemolytic uremic syndrome (aHUS can be distinguished from typical or Shiga-like toxin-induced HUS. The clinical outcome is unfavorable; up to 50% of affected patients progress to end-stage renal failure and 25% die during the acute phase. Multiple conditions have been associated with aHUS, including infections, drugs, autoimmune conditions, transplantation, pregnancy, and metabolic conditions. aHUS in the nontransplant postsurgical period, however, is rare. An 8-month-old boy underwent surgical repair of tetralogy of Fallot. Neurological disturbances, acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia developed 25 days later, and aHUS was diagnosed. Further evaluation revealed that his complement factor H (CFH level was normal and that anti-FH antibodies were not detected in his plasma. Sequencing of his CFH, complement factor I, membrane cofactor protein, complement factor B, and thrombomodulin genes was normal. His ADAMTS-13 (a disintegrin-like and metalloprotease with thrombospondin-1 repeats 13 activity was also normal. However, he had a potentially causative mutation (R425C in complement component C3. Restriction fragment length polymorphism analysis revealed that his father and aunt also had this mutation; however, they had no symptoms of aHUS. We herein report a case of aHUS that developed after cardiovascular surgery and was caused by a complement C3 mutation.

  8. Congenital Heart Disease in Adolescents With Gluteal Muscle Contracture

    Science.gov (United States)

    You, Tian; Zhang, Xin-tao; Zha, Zhen-gang; Zhang, Wen-tao

    2015-01-01

    Abstract Gluteal muscle contracture (GMC), presented with hip abduction and external rotation when crouching, is common in several ethnicities, particularly in Chinese. It remains unclear that the reasons why these children are weak and have no choice to accept repeated intramuscular injection. Here, we found some unique cases which may be useful to explain this question. We describe a series of special GMC patients, who are accompanied with congenital heart disease (CHD). These cases were first observed in preoperative examinations of a patient with atrial septal defect (ASD), which was proved by chest X-ray and cardiac ultrasound. From then on, we gradually identified additional 3 GMC patients with CHD. The original patient with ASD was sent to cardiosurgery department to repair atrial septal first and received arthroscopic surgery later. While the other 3 were cured postoperative of ventricular septal defect (VSD), tetralogy of fallot (TOF), patent ductus arteriosus (PDA), respectively, and had surgery directly. The study gives us 3 proposals: (1) as to CHD children, it is essential to decrease the use of intramuscular injection, (2) paying more attention to cardiac examination especially cardiac ultrasound in perioperative period, and (3) taking 3D-CT to reconstruct gluteal muscles for observing contracture bands clearly in preoperation. However, more larger series of patients are called for to confirm these findings. PMID:25654394

  9. Congenital heart disease at Laos Children's Hospital: Two year experience.

    Science.gov (United States)

    Hwang, In-Chang; Sisavanh, Malouny; Billamay, Somxay; Phangmanixay, Sommanikhone; Oudavong, Bounleua; Kang, Jeehoon; Kwon, Bo Sang; Kim, Gi Beom; Bae, Eun Jung; Noh, Chung Il; Choi, Jung Yun

    2017-03-01

    Management of congenital heart disease (CHD) in developing countries is challenging because of limited access to health-care facilities and socioeconomic limitations. The aim of this study was to describe the recent experience with CHD at Children's Hospital, Vientiane, Laos, the only pediatric referral hospital in the country. From July 2013 to November 2015, 1009 echocardiograms were carried out in 797 individuals who visited Children's Hospital, in whom CHD was identified in 213. Demographic characteristics, echocardiography and age at first CHD diagnosis on echocardiogram were compared by residential area. Among the 213 patients, the most frequent anomalies, in descending order, were ventricular septal defect, atrial septal defect, patent ductus arteriosus, and tetralogy of Fallot. Moderate or severe CHD requiring surgery or intervention was detected in 137 patients; median age at initial diagnosis was 6.0 months (IQR, 1.5-29.8). Among those with moderate or severe CHD, 89 patients were from rural areas and 48 from the capital area. The proportion of patients from rural areas older than 1 and 3 years at diagnosis was 46.1% and 32.6%, respectively. In contrast, patients from the capital area were diagnosed at a significantly earlier age: 16.7% at age >1 year and 6.2% at age >3 years (both P Laos, especially in rural areas. Better education and training of local medical staff, and greater access to medical advice are required to improve CHD care in Laos. © 2016 Japan Pediatric Society.