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Sample records for aortic hypoplasia presented

  1. Hypoplasia of the aortic arch

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    Ю. С. Синельников

    2015-10-01

    Full Text Available An aggressive surgical approach to early repair of aortic coarctation and concomitant arch hypoplasia results in considerable improvement of the long-term outcomes of surgical treatment by reducing the number of aortic re-coarctation and arterial hypertension persistence events. At present, there exist some methods of determining the degree of aortic arch hypoplasia, which allow for arch reconstruction planning. Our review focuses on the analysis of modern methods of determination of the aortic arch hypoplasia and the outcomes of surgical treatment of this disease.

  2. Severe Hypoplasia of Posterior Mitral Valve Leaflet Presented with Atypical Chest Pain: A Case Report

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    Afsoon Fazlinezhad

    2016-02-01

    Full Text Available Introduction Absence of the posterior mitral leaflet is usually fatal for fetus in utero. Although hypoplasia of the posterior mitral leaflet is usually present in children with symptomatic mitral regurgitation, it is usually evident in a few cases of asymptomatic adults. We decided to introduce a rare case with hypoplasia of the posterior mitral valve leaflet associated with aortic stenosis. Case Presentation A 24-year-old man was admitted with a history of atypical chest pain. The patient had a normal psychophysical growth. The physical examination showed 4/6 mid- systolic ejection murmurs over the left sternal border. Chest roentgenogram was normal and the electrocardiogram showed sinus rhythm with mild LVH. Meanwhile, the echocardiography revealed severe elongated sail- like anterior leaflet and hypoplasia of the posterior mitral leaflet with moderate valvular aortic stenosis. MR grade was mild due to the complete coverage of anterior mitral leaflet. Moreover, LV function and pulmonary arterial pressure were reported normal. Conclusions This abnormality was tolerated since adulthood and mitral regurgitation was gradually developed due to annulus dilation. Therefore, the posterior mitral leaflet did not have a significant impact on mitral valve performance.

  3. The Infant with Aortic Arch Hypoplasia and Small Left Heart Structures: Echocardiographic Indices of Mitral and Aortic Hypoplasia Predicting Successful Biventricular Repair.

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    Plymale, Jennifer M; Frommelt, Peter C; Nugent, Melodee; Simpson, Pippa; Tweddell, James S; Shillingford, Amanda J

    2017-08-01

    In infants with aortic arch hypoplasia and small left-sided cardiac structures, successful biventricular repair is dependent on the adequacy of the left-sided structures. Defining accurate thresholds of echocardiographic indices predictive of successful biventricular repair is paramount to achieving optimal outcomes. We sought to identify pre-operative echocardiographic indices of left heart size that predict intervention-free survival in infants with small left heart structures undergoing primary aortic arch repair to establish biventricular circulation (BVC). Infants ≤2 months undergoing aortic arch repair from 1999 to 2010 with aortic and/or mitral valve hypoplasia, (Z-score ≤-2) were included. Pre-operative and follow-up echocardiograms were reviewed. Primary outcome was successful biventricular circulation (BVC), defined as freedom from death, transplant, or single ventricular conversion at 1 year. Need for catheter based or surgical re-intervention (RI), valve annular growth, and significant late aortic or mitral valve obstruction were additional outcomes. Fifty one of 73 subjects (79%) had successful BVC and were free of RI at 1 year. Seven subjects failed BVC; four of those died. The overall 1 year survival for the cohort was 95%. Fifteen subjects underwent a RI but maintained BVC. In univariate analysis, larger transverse aorta (p = 0.006) and aortic valve (p = 0.02) predicted successful BVC without RI. In CART analysis, the combination of mitral valve (MV) to tricuspid valve (TV) ratio ≤0.66 with an aortic valve (AV) annulus Z-score ≤-3 had the greatest power to predict BVC failure (sensitivity 71%, specificity 94%). In those with successful BVC, the combination of both AV and MV Z-score ≤-2.5 increased the odds of RI (OR 3.8; CI 1.3-11.4). Follow-up of non-RI subjects revealed improvement in AV and MV Z-score (median AV annulus changed over time from -2.34 to 0.04 (p indices. In this complex population, 1 year survival is high, but

  4. Persistent Aortic Arch Hypoplasia After Coarctation Treatment Is Associated With Late Systemic Hypertension.

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    Quennelle, Sophie; Powell, Andrew J; Geva, Tal; Prakash, Ashwin

    2015-06-25

    Mild transverse aortic arch (TAA) hypoplasia is common after coarctation treatment, but is considered benign in the absence of an arm-leg systolic blood pressure (SBP) difference. Hypertension (HTN) is a common long-term morbidity after successful coarctation treatment. We examined whether mild TAA hypoplasia after coarctation treatment is associated with late systemic HTN. We retrospectively reviewed 92 patients (median age, 19.9 years; range, 4.9 to 57.8; 60% male) 14.1±10.3 years after successful coarctation treatment (surgery in 63, stent in 16, and balloon dilation in 13), excluding those with resting right arm-leg blood pressure gradient >20 mm Hg, atypical coarctation, and major associated heart defects. Minimum body-surface area (BSA)-adjusted TAA cross-sectional area (CSA) was calculated from cardiac magnetic resonance (CMR) images. On follow-up, 38 of 92 (41%) patients had systemic HTN using standard criteria. Systemic HTN was independently associated with smaller TAA CSA/BSA (P=0.006; odds ratio [OR], 6.41 per 0.5 cm(2)/m(2) decrease), higher age at CMR (P=0.03; OR, 1.57 per 5-year increase), and in a subset (n=61), higher arm-leg SBP difference during exercise (P=0.05; OR, 1.03 per 1-mm-Hg increase). Lower ratio of TAA diameter/descending aorta diameter was associated with a larger increase in right arm SBP during peak exercise (P=0.006; r(2)=0.11). Persistent mild aortic arch hypoplasia, even in the absence of an arm-leg SBP difference at rest, is associated with late systemic HTN. Further studies should be undertaken to determine whether more-aggressive arch reconstruction at initial repair can reduce the incidence of systemic HTN. © 2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  5. A case of hypoplasia of left lung with very rare associations with congenital absence of left pulmonary artery and right-sided aortic arch

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    Trilok Chand

    2017-01-01

    Full Text Available The absence of one of the pulmonary artery with associated hypoplasia of lung and great vessel abnormality is a rare finding. The incidence of this rare congenital abnormality is around 1 in 200,000 live birth. The absence of the left side pulmonary artery is again uncommon, and associated cardiac malformations are usually tetralogy of fallot or septal defects rather than an aortic arch defect. Our case is a unique case in It’s associated congenital anomalies. He was presented with recurrent pneumothorax and hemoptysis, and on thorough workup, he was diagnosed to have an absence of left pulmonary artery with hypoplasia of the left lung and associated right-sided aortic arch. The patient’s family has declined the surgical option, and he was managed conservatively and kept in close follow-up.

  6. Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

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    Jennifer L. Flint

    2013-01-01

    Full Text Available We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH. The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS locus and the AHC locus on the X chromosome revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting.

  7. Distal Transverse Arch to Left Carotid Artery Ratio Helps to Identify Infants With Aortic Arch Hypoplasia.

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    Swartz, Michael F; Simon, Bartholomew; Atallah-Yunes, Nader; Cholette, Jill M; Orie, Joseph; Gensini, Francisco; Alfieris, George M

    2015-09-01

    Aortic coarctation (CoA) with concomitant aortic arch hypoplasia (AAH) is associated with an increased risk of hypertension after surgical repair. The differentiation of CoA with or without AAH may be critical to delineate the ideal surgical approach that best ameliorates postoperative hypertension. Since 2000, we have defined CoA with AAH when the diameter of the distal transverse aortic arch is equal to or less than the diameter of the left carotid artery. We hypothesized that, based on our definition, aortic tissue from infants having CoA with AAH would demonstrate distinct genetic expression patterns as compared with infants having CoA alone. From 6 infants (AAH, 3; CoA, 3), an Affymetrix 1.0 genome array identified genes in the coarctation/arch region that were differentially expressed between infants having CoA with AAH versus CoA alone. Reverse transcription polymerase chain reaction validated genetic differences from a cohort of 21 infants (CoA with AAH, 10; CoA, 11). To evaluate the clinical outcomes based on our definition of CoA with AAH, we reviewed infants repaired using this algorithm from 2000 to 2010. Microarray data demonstrated genes differentially expressed between groups. Reverse transcription polymerase chain reaction confirmed that CoA with AAH was associated with an increased expression of genes involved in cardiac and vascular development and growth, including hepsin, fibroblast growth factor-18, and T-box 2. The clinical outcomes of 79 infants (AAH, 26; CoA, 53) demonstrated that 90.1% were free of hypertension at 13 years when managed with this surgical strategy. These findings provide evidence that the ratio of the diameter of the distal transverse arch to the left carotid artery may be helpful to identify CoA with AAH and, when used to delineate the surgical approach, may minimize hypertension. Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  8. Hypoplasia of the thumb. Clinical presentation and reconstruction

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    Vergara A, Enrique M

    2008-01-01

    In the genesis of the partial or total absence of the thumb they are genetic, environmental factors or a combination of both. It is take part of a syndrome or to be isolated and frequently associated with problems of radial longitudinal deficiency of the forearm. Objective. The purpose of this study is shown the experience, the focus of the processing and the results obtained since the point esthetic and functional view. The most it accepted classification is the proposal by Blauth that helps to determine the forecast and the processing. Materials and methods. it is a work type series of cases in 22 children with hypoplasia of the thumb, with a minimum of 12 months, (average 28 months). In 15 cases there were association of radial dysplasia or another anomaly among them 4 patients with VATER, and the 7 remaining they corresponded to hypoplasia of the thumb as only entity. We carried out tendon transfer, with opening of the first comisure in 2 patients with hypoplasia type II. In 3 patients, with hypoplasia type III A, one carries out corner opening, transfer of the superficial flexor of the 4 finger to correct instability of the articulation MF and opposition of the thumb, and transfer for extension of the thumb. In 17 cases one carries out politicization of the index. Results. The outcome was evaluated in: non pinch, lateral pinch and fingertip pinch; the grade of opposition like good, minimal and non opposition, and the aesthetic result according to the satisfaction of the parents in bad, regular and good. The five children reconstructed with transfers of tendons and comisure opening had good result. In 17 children with politicization one patient had a necrosis, of the 16 remaining a good or acceptable result was obtained. Discussion. It is not easy to follow a good system of measure of the functional results. We find that a practical way to evaluate was the clip, opposition and aesthetics. Previous to the surgeries it is required to evaluate alterations

  9. Cerebellar Hypoplasia

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    ... hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form ... hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form ...

  10. Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen

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    Jap-A-Joe, Simone M. E. A. A.; Oostra, Roelof-Jan; Maas, Mario; Stoker, Jaap; van der Horst, Chantal M. A. M.

    2003-01-01

    A hitherto unknown combination of congenital anomalies was found in an anatomical specimen of a female neonate. External examination and additional CT and MRI studies showed thanatophoric dysplasia type II with cloverleaf skull and concomitant parietal meningoencephalocele and hypoplasia of the

  11. Atypical Presentation of Traumatic Aortic Injury

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    Andrew Fu Wah Ho

    2014-01-01

    Full Text Available Background. Blunt thoracic aorta injury (BAI is second only to head injury as cause of mortality in blunt trauma. While most patients do not survive till arrival at the hospital, for the remainder, prompt diagnosis and treatment greatly improve outcomes. We report an atypical presentation of BAI, highlighting the diagnostic challenges of this condition in the emergency department. Case Presentation. A previously well 25-year-old male presented 15 hours after injury hemodynamically stable with delirium. There were no signs or symptoms suggestive of BAI. Sonography showed small bilateral pleural effusions. Chest radiograph showed a normal mediastinum. Eventually, CT demonstrated a contained distal aortic arch disruption. The patient underwent percutaneous endovascular thoracic aortic repair and recovered well. Conclusion. This catastrophic lesion may present with few reliable signs and symptoms; hence, a high index of suspicion is crucial for early diagnosis and definitive surgical management. This paper discusses the diagnostic utility of clinical features, injury mechanism, and radiographic modalities. Consideration of mechanism of injury, clinical features, and chest radiograph findings should prompt advanced chest imaging.

  12. [Cerebellar hypoplasias].

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    Safronova, Marta Maia; Barbot, Clara; Resende Pereira, Jorge

    2010-01-01

    Cerebellar hypoplasias are cerebellar malformations with small but completely formed cerebellum. They can be divided in focal and in diffuse or generalized. It is sometimes difficult to make distinction between cerebellar atrophy (progressive condition) and hipoplasia (not progressive condition). Focal hypoplasias are restricted to one cerebellar hemisphere or to the vermis. Diffuse hypoplasias refer to both cerebellar hemispheres and vermis. If there is associated IVth ventricle enlargement, hypoplasias occur in the context of Dandy-Walker complex, a continuum of posterior fossa cystic anomalies. A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hypoplasias, Dandy-Walker malformations and its variant, persistent Blake's pouch cyst, megacisterna magna, PEHO síndrome (progressive encephalopathy with oedema, hipsarrhythmia and optic atrophy), Joubert syndrome, congenital disorder of glycosylation type Ia, pontocerebellar hipoplasias Barth type I and II, diffuse subcortical heterotopia. The imaging finding of structural cerebellar anomalies frequently leads to diagnostic incertainty as the anomalies are mostly unspecific, implying an extenuating analytical and genetic workup. Their knowledge and classification may be useful to decide the patient adjusted laboratorial workup.

  13. Marfan's syndrome presenting with abdominal aortic aneurysm: A ...

    African Journals Online (AJOL)

    We present the case of a 16-year old student with Marfan's syndrome and abdominal aortic aneurysm who presented with a diagnostic conundrum. He presented with a three months history of progressive painful left upper abdominal mass and back pain. It became severe in the last two weeks before presentation and was ...

  14. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

    International Nuclear Information System (INIS)

    Nishimura, G.; Haga, Yoshihiko; Aoki, Katsuhiko; Hasegawa, Tomoko

    1998-01-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.)

  15. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

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    Nishimura, G. [Department of Radiology, Dokkyo University School of Medicine (Japan); Haga, Yoshihiko [Department of Orthopaedics, Shizuoka Children`s Hospital, Shizuoka (Japan); Aoki, Katsuhiko [Department of Radiology, Shizuoka Children`s Hospital, Shizuoka (Japan); Hasegawa, Tomoko [Division of Clinical Genetics, Shizuoka Children`s Hospital, Shizuoka (Japan)

    1998-12-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.) With 4 figs., 8 refs.

  16. Subacute Aortic Regurgitation as a Rare Presentation of Latrogenic Aortic Valve Leaflet Perforation

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    Hassan Teimouri

    2009-12-01

    Full Text Available There is a paucity of literature regarding iatrogenic aortic valve perforation after cardiac operation is performed in the vicinity of the aortic valve. This report describes the clinical, echocardiographic, and angiocardiographic recognition of iatrogenic aortic valve perforation in a patient who had previously under gone membranous ventricular septal defect and pulmonary stenosis. Five days after the operation, the patient showed subacute signs and symptoms of congestive heart failure in surgical ward. Echocardiographic examination revealed free aortic regurgitation. The patient was scheduled for operation, which was performed using cardiopulmonary bypass and cardioplegic arrest. During the operation, exploration of the aortic root revealed tearing non-coronary aortic cusp at the level of the aortic ring and slightly dilated the left sinus. Despite close examination, no suture could be identified. It was reasoned that the tension created by the dacron patch pulled on the adjacent tissue and caused the separation of the non-coronary cusp from its ring and the patient was treated by aortic valve replacement with prosthetic aortic valve. We did not have the facility to use transesophaseal echocardiography for the examination of aortic valve repair and the poor condition of the patient did not permit us to repair the valve. Precise preoperative diagnosis of this lesion allows optimal surgical planning and treatment.

  17. Unusual presenting of acute aortic dissection due to penetrating atheromatous ulcer.

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    Atas, Halil; Durmus, Erdal; Sunbul, Murat; Birkan, Yasar; Ozben, Beste

    2014-07-01

    Penetrating atheromatous ulcer (PAU) is an atherosclerotic ulcer penetrating the internal elastic lamina of the aortic wall causing a hematoma within the media layer of aorta. They are commonly located in the descending aorta of the elderly and hypertensive patients. They may rarely be complicated by aortic dissection. We report a relative young normotensive patient presenting with acute aortic dissection due to PAU located in the ascending aorta.

  18. Bilateral Maxillary Sinus Hypoplasia

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    Khanduri, Sachin; Agrawal, Sumit; Goyal, Swati

    2014-01-01

    Maxillary sinus hypoplasia (MSH) is an uncommon abnormality of paranasal sinuses noted in clinical practice. Computed tomography (CT) scan helps in diagnosing the anomaly along with any anatomical variation that may be associated with it. MSH is usually associated with other anomalies like uncinate process hypoplasia. Three types of MSH have been described. Type 1 MSH shows mild maxillary sinus hypoplasia, type 2 shows significant sinus hypoplasia with narrowed infundibular passage and hypoplastic or absent uncinate process, and type 3 is cleft like maxillary sinus hypoplasia with absent uncinate process. CT and endoscopic examination usually complement each other in diagnosing MSH. PMID:25548709

  19. Common presentation of rare diseases: Aortic aneurysms & valves.

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    Arbustini, Eloisa; Favalli, Valentina; Di Toro, Alessandro; Giuliani, Lorenzo; Limongelli, Giuseppe

    2018-04-15

    The concept "common presentation of rare diseases" implies that rare diseases are masked by common phenotypic manifestations. This concept applies to both aneurysmal and valvular diseases that can be syndromic and non-syndromic. Syndromic disorders include genetic connective tissue diseases and chromosomal disorders that are diagnosed independently from the aneurysm or valve disease. Non-syndromic diseases, on the other hand, are defined by the presence of aneurysm or valve disease or both. The reasons for suspecting these rare diseases include young age, the absence of risk factors, a positive family history for aortic or valvular disease/event, and extra-cardiovascular traits for syndromes. The probands should receive genetic counseling, genetic testing [single gene in case of precise phenotyping addressing the gene to be tested, or multigene panels, in case of diseases with genetic heterogeneity], post-test counseling, clinical family screening and cascade genetic testing in relatives after the identification of a causative mutation. Segregation studies are essential in case of novel mutations, in particular non-truncation predicting variants. Clinical family screening of syndromic diseases is facilitated by the evaluation of non-cardiovascular traits; this supports early diagnosis and geno-phenotype correlation. Vice versa, family screening studies in non-syndromic aneurysmal and valvular diseases exclusively relies on CV imaging screening of relatives. In this context, conditions such as BAV and related aortopathy are easy to diagnose because BAV is present at birth while aortopathy usually develops during the life course. Copyright © 2018 Elsevier B.V. All rights reserved.

  20. Atypical initial presentation of Takayasu arteritis as isolated supra-valvular aortic stenosis.

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    Kim, Do Yeon; Kim, Hwan Wook

    2016-01-19

    Among the vascular involvements of Takayasu arteritis, a supra-valvular aortic stenosis has been reported very rarely. We report a case of surgically corrected, supra-valvular aortic stenosis caused by Takayasu arteritis. A 32-year-old female was diagnosed with supra-valvular aortic stenosis by transthoracic echocardiography for the evaluation of cardiac murmur with constitutional symptoms. Under the impression of non-familial sporadic type of supra-valvular aortic stenosis, surgical correction was performed. However, after 1 year from the operation, we could know the cause of her disease through the findings of computed tomographic aortography that Takayasu arteritis was suspected. Takayasu arteritis should be considered in adult female patients presenting supra-valvular aortic stenosis with constitutional symptoms, even if no typical features of vascular involvement.

  1. Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.

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    McCann, Liza J; McPartland, Jo; Barge, Dawn; Strain, Lisa; Bourn, David; Calonje, Eduardo; Verbov, Julian; Riordan, Andrew; Kokai, George; Bacon, Chris M; Wright, Michael; Abinun, Mario

    2014-01-01

    We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease) gene mutation. Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT) was underway, she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection, and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT. Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features.

  2. Temporoparietal Headache as the Initial Presenting Symptom of a Massive Aortic Dissection

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    Manan Parikh

    2015-01-01

    Full Text Available Aortic dissection is a life-threatening medical emergency often presenting with severe chest pain and acute hemodynamic compromise. The presentation of aortic dissection can sometimes be different thus leading to a challenge in prompt diagnosis and treatment as demonstrated by the following presentation and discussion. We present a case of a 71-year-old male who presented to the emergency department with complaints of left sided temporoparietal headache and was eventually diagnosed with a thoracic aortic dissection involving the ascending aorta and descending aorta, with an intramural hematoma in the descending aorta. This case illustrates the importance of keeping in mind aortic dissection as a differential diagnosis in patients with acute onset headaches in which any intracranial source of headache is not found.

  3. Acute Contained Ruptured Aortic Aneurysm Presenting as Left Vocal Fold Immobility

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    Gnagi, Sharon H.; Howard, Brittany E.; Hoxworth, Joseph M.; Lott, David G.

    2015-01-01

    Objective. To recognize intrathoracic abnormalities, including expansion or rupture of aortic aneurysms, as a source of acute onset vocal fold immobility. Methods. A case report and review of the literature. Results. An 85-year-old female with prior history of an aortic aneurysm presented to a tertiary care facility with sudden onset hoarseness. On laryngoscopy, the left vocal fold was immobile in the paramedian position. A CT scan obtained that day revealed a new, large hematoma surrounding ...

  4. Complicated thoraco-abdominal aortic dissection presenting with lower limb ischemia in a patient with bovine arch and arteria lusoria.

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    Joliat, G-R; Dubuis, C; Déglise, S

    2017-01-01

    We report the case of a 58-year-old man who presented with thoraco-abdominal pain and right lower limb ischemia due to type B aortic dissection. Moreover, the patient was discovered to have several concomitant aortic arch anomalies (bovine arch, arteria lusoria, and left vertebral artery arising from the aortic arch). Taking into account this complex anatomy, emergent femoral exploration with fenestration and thrombectomy was performed. The blood flow to the right lower limb was restored. A few days later the aortic dissection spread proximally, and the aortic arch dilatation enlarged. Before total arch replacement could be performed, the aorta ruptured and the patient unfortunately died.

  5. Presentation of an uncommon form of aortic dissection and rupture in Marifoan syndrome

    International Nuclear Information System (INIS)

    Delgado, I.; Ruiz, R.; Villanueva, J.M.; Fernandez Cueto, J.L.

    1995-01-01

    In Marfan syndrome, aneurysmatic enlargement of ascending aorta and dissection starting at the root are the most common cardiovascular complications. We present an infrequent case of a 15-year-old patient with a typical case of Marfan syndrome. CT disclosed an aorta and aortic arch of normal size with dissection originating distally with respect to the point where left subclavian artery arises. The disecction extended to descending aorta and to iliac and femoral arteries. Aortic rupture occurred in the arch, with massive hemothorax. The CT findings were confirmed at necropsy. 9 refs

  6. Acute contained ruptured aortic aneurysm presenting as left vocal fold immobility.

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    Gnagi, Sharon H; Howard, Brittany E; Hoxworth, Joseph M; Lott, David G

    2015-01-01

    Objective. To recognize intrathoracic abnormalities, including expansion or rupture of aortic aneurysms, as a source of acute onset vocal fold immobility. Methods. A case report and review of the literature. Results. An 85-year-old female with prior history of an aortic aneurysm presented to a tertiary care facility with sudden onset hoarseness. On laryngoscopy, the left vocal fold was immobile in the paramedian position. A CT scan obtained that day revealed a new, large hematoma surrounding the upper descending aortic stent graft consistent with an acute contained ruptured aortic aneurysm. She was referred to the emergency department for evaluation and treatment by vascular surgery. She was counseled regarding surgical options and ultimately decided not to pursue further treatment. Her vocal fold immobility was subsequently treated via office-based injection medialization two weeks after presentation and again 5 months after the initial injection which dramatically improved her voice. Follow-up CT scan at 8 months demonstrated a reduction of the hematoma. The left vocal cord remains immobile to date. Conclusion. Ortner's syndrome, or cardiovocal syndrome, is hoarseness secondary to left recurrent laryngeal nerve palsy caused by cardiovascular pathology. It is a rare condition and, while typically presenting gradually, may also present with acute symptomatology.

  7. Acute Contained Ruptured Aortic Aneurysm Presenting as Left Vocal Fold Immobility

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    Sharon H. Gnagi

    2015-01-01

    Full Text Available Objective. To recognize intrathoracic abnormalities, including expansion or rupture of aortic aneurysms, as a source of acute onset vocal fold immobility. Methods. A case report and review of the literature. Results. An 85-year-old female with prior history of an aortic aneurysm presented to a tertiary care facility with sudden onset hoarseness. On laryngoscopy, the left vocal fold was immobile in the paramedian position. A CT scan obtained that day revealed a new, large hematoma surrounding the upper descending aortic stent graft consistent with an acute contained ruptured aortic aneurysm. She was referred to the emergency department for evaluation and treatment by vascular surgery. She was counseled regarding surgical options and ultimately decided not to pursue further treatment. Her vocal fold immobility was subsequently treated via office-based injection medialization two weeks after presentation and again 5 months after the initial injection which dramatically improved her voice. Follow-up CT scan at 8 months demonstrated a reduction of the hematoma. The left vocal cord remains immobile to date. Conclusion. Ortner’s syndrome, or cardiovocal syndrome, is hoarseness secondary to left recurrent laryngeal nerve palsy caused by cardiovascular pathology. It is a rare condition and, while typically presenting gradually, may also present with acute symptomatology.

  8. MR findings in pontocerebellar hypoplasia

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    Uhl, M.; Pawlik, H.; Laubenberger, J.; Langer, M. [Department of Radiology, Division of Paediatric Radiology, University Hospital of Freiburg, Freiburg (Germany); Darge, K. [Department of Paediatric Radiology, Children`s Hospital of the University of Heidelberg, Heidelberg (Germany); Baborie, A. [Department of Neuropathology, Neurozentrum, University of Freiburg, Freiburg (Germany); Korinthenberg, R. [Department of Neuropaediatrics, Children`s Hospital, University of Freiburg, Freiburg (Germany)

    1998-07-01

    We present four cases with combined hypoplasia of the cerebellum and the ventral pons - pontocerebellar hypoplasia (PCH). PCH represents an autosomal recessive neurodegenerative disorder with fetal onset. The disease is rare, with less than 20 cases having been reported. The main findings of PCH and the inclusion criteria for our cases can be summarised as progressive microcephaly from birth, pontocerebellar hypoplasia documented by MRI and marked chorea, which may change, later in childhood, to more dystonic patterns. The cerebral cortex becomes progressively atrophic. Motor and mental development are delayed, and epilepsy, mainly tonic-clonic seizures, is frequent. The MRI features in all of our cases were: (1) Hypoplastic cerebellum situated close to the tentorium. The hypoplastic cerebellum has a reduced number of folia, in contrast to the normal number of thin folia in simple cerebellar atrophy. (2) The cerebellar hemispheres are reduced to bean-like or wing-like structures. The cerebellar hemispheres appear to `float` in the posterior fossa. (3) Markedly hypoplastic ventral pons. (4) Slight atrophy of the supratentorial gyral pattern. (5) Dilated cerebromedullary cistern and fourth ventricle. (6) Delayed myelination of the white matter. (7) No significant disorganisation of brain architecture and no severe corpus callosum defect. (orig.) With 3 figs., 2 tabs., 13 refs.

  9. MR findings in pontocerebellar hypoplasia

    International Nuclear Information System (INIS)

    Uhl, M.; Pawlik, H.; Laubenberger, J.; Langer, M.; Darge, K.; Baborie, A.; Korinthenberg, R.

    1998-01-01

    We present four cases with combined hypoplasia of the cerebellum and the ventral pons - pontocerebellar hypoplasia (PCH). PCH represents an autosomal recessive neurodegenerative disorder with fetal onset. The disease is rare, with less than 20 cases having been reported. The main findings of PCH and the inclusion criteria for our cases can be summarised as progressive microcephaly from birth, pontocerebellar hypoplasia documented by MRI and marked chorea, which may change, later in childhood, to more dystonic patterns. The cerebral cortex becomes progressively atrophic. Motor and mental development are delayed, and epilepsy, mainly tonic-clonic seizures, is frequent. The MRI features in all of our cases were: (1) Hypoplastic cerebellum situated close to the tentorium. The hypoplastic cerebellum has a reduced number of folia, in contrast to the normal number of thin folia in simple cerebellar atrophy. (2) The cerebellar hemispheres are reduced to bean-like or wing-like structures. The cerebellar hemispheres appear to 'float' in the posterior fossa. (3) Markedly hypoplastic ventral pons. (4) Slight atrophy of the supratentorial gyral pattern. (5) Dilated cerebromedullary cistern and fourth ventricle. (6) Delayed myelination of the white matter. (7) No significant disorganisation of brain architecture and no severe corpus callosum defect. (orig.)

  10. Optic nerve hypoplasia

    Directory of Open Access Journals (Sweden)

    Savleen Kaur

    2013-01-01

    Full Text Available Optic nerve hypoplasia (ONH is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. With a vast number of cases now being reported, the rarity of ONH is obviously now refuted. The major aspects of ophthalmic evaluation of an infant with possible ONH are visual assessment, fundus examination, and visual electrophysiology. Characteristically, the disc is small, there is a peripapillary double-ring sign, vascular tortuosity, and thinning of the nerve fiber layer. A patient with ONH should be assessed for presence of neurologic, radiologic, and endocrine associations. There may be maternal associations like premature births, fetal alcohol syndrome, maternal diabetes. Systemic associations in the child include endocrine abnormalities, developmental delay, cerebral palsy, and seizures. Besides the hypoplastic optic nerve and chiasm, neuroimaging shows abnormalities in ventricles or white- or gray-matter development, septo-optic dysplasia, hydrocephalus, and corpus callosum abnormalities. There is a greater incidence of clinical neurologic abnormalities in patients with bilateral ONH (65% than patients with unilateral ONH. We present a review on the available literature on the same to urge caution in our clinical practice when dealing with patients with ONH. Fundus photography, ocular coherence tomography, visual field testing, color vision evaluation, neuroimaging, endocrinology consultation with or without genetic testing are helpful in the diagnosis and management of ONH. (Method of search: MEDLINE, PUBMED.

  11. Proximal aortic stiffening in Turner patients may be present before dilation can be detected: a segmental functional MRI study.

    Science.gov (United States)

    Devos, Daniel G H; De Groote, Katya; Babin, Danilo; Demulier, Laurent; Taeymans, Yves; Westenberg, Jos J; Van Bortel, Luc; Segers, Patrick; Achten, Eric; De Schepper, Jean; Rietzschel, Ernst

    2017-02-13

    To study segmental structural and functional aortic properties in Turner syndrome (TS) patients. Aortic abnormalities contribute to increased morbidity and mortality of women with Turner syndrome. Cardiovascular magnetic resonance (CMR) allows segmental study of aortic elastic properties. We performed Pulse Wave Velocity (PWV) and distensibility measurements using CMR of the thoracic and abdominal aorta in 55 TS-patients, aged 13-59y, and in a control population (n = 38;12-58y). We investigated the contribution of TS on aortic stiffness in our entire cohort, in bicuspid (BAV) versus tricuspid (TAV) aortic valve-morphology subgroups, and in the younger and older subgroups. Differences in aortic properties were only seen at the most proximal aortic level. BAV Turner patients had significantly higher PWV, compared to TAV Turner (p = 0.014), who in turn had significantly higher PWV compared to controls (p = 0.010). BAV Turner patients had significantly larger ascending aortic (AA) luminal area and lower AA distensibility compared to both controls (all p Turner patients. TAV Turner had similar AA luminal areas and AA distensibility compared to Controls. Functional changes are present in younger and older Turner subjects, whereas ascending aortic dilation is prominent in older Turner patients. Clinically relevant dilatation (TAV and BAV) was associated with reduced distensibility. Aortic stiffening and dilation in TS affects the proximal aorta, and is more pronounced, although not exclusively, in BAV TS patients. Functional abnormalities are present at an early age, suggesting an aortic wall disease inherent to the TS. Whether this increased stiffness at young age can predict later dilatation needs to be studied longitudinally.

  12. Multi-drug-resistant hypertension caused by severe aortic coarctation presenting in late adulthood.

    Science.gov (United States)

    Meller, Stephanie M; Fahey, John T; Setaro, John F; Forrest, John K

    2015-04-01

    Aortic coarctation, a congenital narrowing in the region of the ligamentum arteriosium, is a rare etiology for multi-drug-resistant hypertension in adulthood; however, advances in stenting modalities may offer long-term improvements in morbidity and possibly even cure. We report on a female patient in her late 50s presenting with refractory hypertension and severely elevated renin levels, ultimately diagnosed with aortic coarctation and treated with percutaneous stent implantation, which resulted in successful blood pressure control with verapamil monotherapy. This case highlights the efficacy of endovascular stent implantation for the treatment of coarctation and the need for clinicians to consider this disease entity in the differential diagnosis of refractory hypertension even in late adulthood. © 2015 Wiley Periodicals, Inc.

  13. Crystalline Ultrastructures, Inflammatory Elements, and Neoangiogenesis Are Present in Inconspicuous Aortic Valve Tissue

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    P. Dorfmüller

    2010-01-01

    Full Text Available Morbidity from calcific aortic valve disease (CAVD is increasing. Recent studies suggest early reversible changes involving inflammation and neoangiogenesis. We hypothesized that microcalcifications, chemokines, and growth factors are present in unaffected regions of calcific aortic valves. We studied aortic valves from 4 patients with CAVD and from 1 control, using immunohistochemistry, scanning electron microscopy, and infrared spectrography. We revealed clusters of capillary neovessels in calcified (ECC, to a lesser extent in noncalcified (ECN areas. Endothelial cells proved constant expression of SDF-1 in ECC, ECN, and endothelial cells from valvular surface (ECS. Its receptor CXCR4 was expressed in ECC. IL-6 expression correlated with CXCR4 staining and presence of lymphocytes. VEGF was expressed by ECS, its receptor by ECC and ECN. Crystalline ultrastructures were found on the surface of histologically noncalcified areas (HNCAs, spectrography revealed calcium hydroxylapatite. Our results demonstrate that crystalline ultrastructures are present in HNCAs, undergoing neoangiogenesis in an inflammatory context. These alterations could be an early witness of disease and an opening to therapy.

  14. Ruptured abdominal aortic aneurysm masquerading as isolated hip pain: an unusual presentation.

    Science.gov (United States)

    Vaidyanathan, Sriram; Wadhawan, Himanshu; Welch, Pedro; El-Salamani, Murad

    2008-05-01

    The rupture of an abdominal aortic aneurysm (AAA) is a catastrophic event. Misdiagnosis by first-contact emergency physicians remains a serious concern. Varied and frequently nonspecific presentations lead to erroneous diagnostic impressions and cause significant delays in definitive intervention. We report the case of a 73-year-old man with a ruptured AAA presenting with isolated acute right hip pain without any classical features such as truncal pain or hypotension. Despite major advances in imaging and definitive treatment, a heightened awareness among emergency physicians remains the only effective means of improving detection and thereby survival.

  15. Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi

    International Nuclear Information System (INIS)

    Oguz, Berna; Haliloglu, Mithat; Alan, Serdar; Ozcelik, Ugur

    2009-01-01

    Horseshoe lung, a rare congenital anomaly, is almost always associated with unilateral (usually right-sided) lung hypoplasia, and, in most cases, in conjunction with the scimitar syndrome. We present an 8-month-old boy with horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of the upper lobe bronchi, diagnosed by multidetector CT (MDCT) imaging. The study also revealed an anomalous origin of the left vertebral artery as the last branch of the aortic arch, distal to the left subclavian artery, and an anomalous origin of the left common carotid artery from the brachiocephalic trunk. A hemivertebral anomaly of the seventh cervical vertebra was incidentally detected. MDCT with high-quality multiplanar and three-dimensional reconstructions is a noninvasive and rapid technique for detecting the complex combination of vascular, tracheobronchial and parenchymal anomalies, and any potential bone anomalies, in one imaging study. (orig.)

  16. Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi

    Energy Technology Data Exchange (ETDEWEB)

    Oguz, Berna; Haliloglu, Mithat [Hacettepe University Faculty of Medicine, Department of Radiology, Ankara (Turkey); Alan, Serdar; Ozcelik, Ugur [Hacettepe University Faculty of Medicine, Department of Pediatrics, Ankara (Turkey)

    2009-09-15

    Horseshoe lung, a rare congenital anomaly, is almost always associated with unilateral (usually right-sided) lung hypoplasia, and, in most cases, in conjunction with the scimitar syndrome. We present an 8-month-old boy with horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of the upper lobe bronchi, diagnosed by multidetector CT (MDCT) imaging. The study also revealed an anomalous origin of the left vertebral artery as the last branch of the aortic arch, distal to the left subclavian artery, and an anomalous origin of the left common carotid artery from the brachiocephalic trunk. A hemivertebral anomaly of the seventh cervical vertebra was incidentally detected. MDCT with high-quality multiplanar and three-dimensional reconstructions is a noninvasive and rapid technique for detecting the complex combination of vascular, tracheobronchial and parenchymal anomalies, and any potential bone anomalies, in one imaging study. (orig.)

  17. Familial Thoracic Aortic Aneurysm with Dissection Presenting as Flash Pulmonary Edema in a 26-Year-Old Man

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2014-01-01

    Full Text Available We are reporting a case of familial thoracic aortic aneurysm and dissection in a 26-year-old man with no significant past medical history and a family history of dissecting aortic aneurysm in his mother at the age of 40. The patient presented with cough, shortness of breath, and chest pain. Chest X-ray showed bilateral pulmonary infiltrates. CT scan of the chest showed a dissection of the ascending aorta. The patient underwent aortic dissection repair and three months later he returned to our hospital with new complaints of back pain. CT angiography showed a new aortic dissection extending from the left carotid artery through the bifurcation and into the iliac arteries. The patient underwent replacement of the aortic root, ascending aorta, total aortic arch, and aortic valve. The patient recovered well postoperatively. Genetic studies of the patient and his children revealed no mutations in ACTA2, TGFBR1, TGFBR2, TGFB2, MYH11, MYLK, SMAD3, or FBN1. This case report focuses on a patient with familial TAAD and discusses the associated genetic loci and available screening methods. It is important to recognize potential cases of familial TAAD and understand the available screening methods since early diagnosis allows appropriate management of risk factors and treatment when necessary.

  18. Genetics Home Reference: pontocerebellar hypoplasia

    Science.gov (United States)

    ... brain, leading to an unusually small head size ( microcephaly ). This microcephaly is usually not apparent at birth but becomes ... Hypoplasia GeneReview: TSEN54-Related Pontocerebellar Hypoplasia MedlinePlus Encyclopedia: Microcephaly General Information from MedlinePlus (5 links) Diagnostic Tests ...

  19. Tooth enamel hypoplasia in PHACE syndrome.

    Science.gov (United States)

    Chiu, Yvonne E; Siegel, Dawn H; Drolet, Beth A; Hodgson, Brian D

    2014-01-01

    Individuals with PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe syndrome) have reported dental abnormalities to their healthcare providers and in online forums, but dental involvement has not been comprehensively studied. A study was conducted at the third PHACE Family Conference, held in Milwaukee, Wisconsin, in July 2012. A pediatric dentist examined subjects at enrollment. Eighteen subjects were enrolled. The median age was 4.2 years (range 9 mos-9 yrs; 14 girls, 4 boys). Eleven of 18 patients had intraoral hemangiomas and five of these (50%) had hypomature enamel hypoplasia. None of the seven patients without intraoral hemangiomas had enamel hypoplasia. No other dental abnormalities were seen. Enamel hypoplasia may be a feature of PHACE syndrome when an intraoral hemangioma is present. Enamel hypoplasia increases the risk of caries, and clinicians should refer children with PHACE syndrome to a pediatric dentist by 1 year of age. © 2014 Wiley Periodicals, Inc.

  20. Cerebral white matter hypoplasia

    International Nuclear Information System (INIS)

    Dietrich, R.B.; Shields, W.D.; Sankar, R.

    1990-01-01

    This paper demonstrates the MR imaging findings in children with cerebral white matter hypoplasia (CWMH). The MR studies of four children, aged 3-7 y (mean age, 2.3 y) with a diagnosis of CWMH were reviewed. In all cases multiplanar T1-weighted and T2-weighted spin-echo images were obtained. All children had similar histories of severe developmental delay and nonprogressive neurologic deficits despite normal gestational and birth histories. In two cases there was a history of maternal cocaine abuse. Autopsy correlation was available in one child. The MR images of all four children demonstrated diffuse lack of white matter and enlarged ventricles but normal-appearing gray matter. The corpus callosum, although completely formed, was severely thinned. There was no evidence of gliosis or porencephaly, and the distribution of myelin deposition was normal for age in all cases. Autopsy finding in one child correlated exactly with the MR finding

  1. A practical tip to engage the left main coronary artery in patients presenting with aortic aneurysms

    Directory of Open Access Journals (Sweden)

    Kudret Keskin

    2017-09-01

    Full Text Available Coronary angiography in patients presenting with ascending aortic aneurysms can be challenging since standard catheters may fail to reach the left main coronary artery. A widely accepted approach is the mother-in-child catheter technique whereby a catheter with a smaller diameter is telescoped through one with a bigger diameter, a procedure that helps to lengthen the catheter. However, this technique is associated with several disadvantages such as thrombus formation within the catheters, inadvertent damage to the left main ostium, and the necessity of manipulation, which the operator may not be familiar with. Therefore, in our case we present a method, which involves the application of a regular Judkins Right 4 catheter for left main engagement. We propose that this method can be safely attempted prior to using telescoping techniques.

  2. Aplasia and hypoplasia of the maxillary sinus: A case series

    Directory of Open Access Journals (Sweden)

    Nasim Jafari-Pozve

    2014-01-01

    Full Text Available Maxillary sinus aplasia and hypoplasia are rare conditions that can cause symptoms such as headaches and voice alteration. The majority of patients are asymptomatic, but these conditions must be noticed for importance of differential diagnosis such as infection and neoplasms. Conventional radiographs could not differentiate between inflammatory mucosal thickening, neoplasm, and hypoplasia of the sinus. Computed tomography (CT and also cone beam computed tomography (CBCT are the proper modalities to detect these conditions. In the present study, CBCT findings of three cases with maxillary sinus hypoplasia and aplasia are reported.

  3. Quadricuspid Aortic Valve Combined with Moderate Ascending Aortic Dilatation

    Science.gov (United States)

    Uspenskiy, Vladimir E.; Osadchii, Alexei M.; Gordeev, Mikhail L.

    2015-01-01

    The quadricuspid aortic valve is a very uncommon malformation associated with aortic insufficiency, aortic stenosis, endocarditis, and ascending aortic dilatation. We report four cases of this aortic valve malformation. One patient with severe aortic regurgitation and moderate aortic dilatation required aortic valve replacement. Three patients had mild or moderate aortic insufficiency combined with moderate ascending aortic dilatation. These patients were referred to follow-up. The presented cases demonstrate that this aortic valve malformation may not be as rare as it appears and that attention must be paid to any quadricuspid findings during computed tomographic angiography and echocardiography. PMID:27390747

  4. On the classification of congenital thumb hypoplasia.

    Science.gov (United States)

    Tonkin, M A

    2014-11-01

    In 1937, Müller introduced the concept of a teratological sequence of thumb hypoplasia with increasing severity from mild deficiency, through severe deficiency, to thumb absence. Blauth subsequently detailed five specific grades. In 1992, Manske and McCarroll altered Blauth's classification such that Grade 3 was sub-divided into Grades 3A and 3B, according to a presence or absence of the proximal metacarpal. Buck-Gramcko added a Grade 3C in which there was only a remnant metacarpal head. This article investigates their publications and those of others to identify 'who said what' and clarify the definitions of grades of thumb hypoplasia. A modification of Blauth's classification is proposed, which retains the integrity of the concept of Müller and the skeletal and soft tissue grading of Blauth, but which also incorporates the disparate anomalies that may present in Grades 2 and 3 hypoplastic thumbs. © The Author(s) 2013.

  5. Aortic dissection presenting with secondary pulmonary hypertension caused by compression of the pulmonary artery by dissecting hematoma: a case report

    International Nuclear Information System (INIS)

    Kim, Dong Hun; Ryu, Sang Wan; Choi, Yong Sun; Ahn, Byoung Hee

    2004-01-01

    The rupture of an acute dissection of the ascending aorta into the space surrounding the pulmonary artery is an uncommon occurrence. No previous cases of transient pulmonary hypertension caused by a hematoma surrounding the pulmonary artery have been documented in the literature. Herein, we report a case of acute aortic dissection presenting as secondary pulmonary hypertension

  6. Congenital Unilateral Hypoplasia of Depressor Anguli Oris

    Directory of Open Access Journals (Sweden)

    Seckin O. Ulualp

    2012-01-01

    Full Text Available Objectives. Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. We describe clinical features of congenital hypoplasia of depressor anguli oris muscle in a child. Material and Methods. Chart of a 10-month-old female referred to a tertiary care pediatric hospital for assessment of facial paralysis was reviewed. Data included relevant history and physical examination, diagnostic work up, and management. Results. The child presented with asymmetric movement of lower lip since birth. Asymmetry of lower lip was more pronounced when she smiled and cried. Rest of the face movement was symmetric. On examination, the face appeared symmetric at rest. The child had inward deviation of right lower lip when she smiled. Facial nerve function, as determined by frowning/forehead, wrinkling, eye closure, nasolabial fold depth, and tearing, was symmetric. Magnetic resonance imaging of the temporal bones and internal auditory canals were within normal limits. Echocardiogram did not show cardiac abnormality. Auditory brainstem response showed no abnormality. Conclusions. Congenital hypoplasia of depressor anguli oris is a rare anomaly that causes asymmetric crying face. Pediatricians and otolaryngologists need to be cognizant of cardiac, head and neck, and central nervous system anomalies associated with congenital unilateral hypoplasia of depressor anguli oris.

  7. Focal dermal hypoplasia (Goltz's syndrome).

    Science.gov (United States)

    Gündüz, K; Günalp, I; Erden, I

    1997-09-01

    A 17-year-old female with Goltz's syndrome was examined because of visual acuity loss in her right eye. Ocular examination revealed microcornea, iris, choroid and optic disc coloboma in the right eye. There were several erthematous and hyperpigmented areas on the body. Magnetic resonance (MR) imaging of the orbits and brain demonstrated right optic nerve hypoplasia and diffuse cortical and cerebellar atrophy. Skeletal manifestations were short stature, scoliosis, syndactyly, clinodactyly, and osteopathia striata. Dental defects included hypodontia, developmental defects, and malocclusion. There were multiple papillomatous lesions on the lids and perioral skin and the nose was asymmetric. Her mental development was apparently normal. She had left bifid ureter and renal pelvis, scant hair on the pubic and genital region, and poor breast development. Histopathologic examination of the biopsy taken from a characteristic skin lesion revealed attenuated epidermis, hypoplastic dermis, and subcutaneous fat close to epidermis. Immunofluorescence staining was negative for IgG, IgM, IgA, C3, C4, fibrin, and albumin. Ultrastructural examination showed that no viral particles were present. Prometaphase chromosome analysis revealed a normal 46, XX female karyotype. Cortical and cerebellar atrophy can occur in a patient with Goltz's syndrome.

  8. Combined abdominal aortic aneurysm repair and coronary artery bypass: presentation of 13 cases and review of the literature.

    Science.gov (United States)

    Wolff, Thomas; Baykut, Doan; Zerkowski, Hans-Reinhand; Stierli, Peter; Gürke, Lorenz

    2006-01-01

    Coronary artery disease remains the major cause of perioperative mortality after abdominal aortic aneurysm (AAA) repair. The beneficial effect of coronary artery bypass (CAB) before AAA repair in patients with severe coronary artery disease has been proven. The coexistence of a very large or symptomatic AAA and coronary artery disease remains a therapeutic challenge since there is the risk of AAA rupture in the interval between CAB and AAA repair. Combined CAB and aortic aneurysm repair has been suggested for these cases, and results on several series of patients have been published. However, the exact indication for the combined operation remains to be clarified. We present a series of 13 patients who underwent CAB on cardiopulmonary bypass and aortic aneurysm repair as a one-stage procedure. The indication was a large AAA in seven patients and a symptomatic AAA in six patients. In four patients, the aortic reconstruction was performed without the use of cardiopulmonary bypass; in nine patients, the aortic reconstruction was performed under partial cardiopulmonary bypass. Thirty-day mortality was 15%. Major morbidity was 31%. All major complications were due to excessive bleeding and occurred in patients who had AAA repair performed with partial cardiopulmonary bypass, suggesting that prolonged bypass time represents a major source of morbidity. A detailed review of the literature is presented. From the evidence available we suggest that the combined procedure can be recommended only for patients with very high rupture risk, such as in symptomatic AAA. In all other cases, the staged approach--CAB followed by AAA repair 2-4 weeks later--is preferable. During the combined procedure, cardiopulmonary bypass support during AAA repair should be used only in patients with clear evidence of hemodynamic instability.

  9. Infected aortic aneurysm presenting as prevertebral abscess in magnetic resonance imaging: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Yu, Jung Re; Ko, Seong Joo; Heo, Sang Taek; Kim, Jin Seok; Kim, Seung Hyoung [Jeju National University School of Medicine, Jeju (Korea, Republic of)

    2013-09-15

    The differential diagnosis of mass-like lesions around the aorta includes saccular pseudoaneurysms and abscesses. A 69-year-old female was admitted with multiple abscesses and fluid collections in several muscles and joints. Methicillin susceptible Staphylococcus aureus was isolated from her blood and pus. Even though she was treated with repeated operations and appropriate antibiotics, her conditions worsened with persistent fever and newly developed abscesses at other sites. Serial enhanced computed tomography (CT) revealed a newly developed saccular abdominal aortic aneurysm in the retroaortic space at the celiac axis level. However, the infected aortic aneurysm mimicked a prevertebral abscess on enhanced spinal magnetic resonance imaging (MRI) due to its heterogeneous signal intensity caused by intraaneurysmal turbulent blood flow. We report to alert the pitfall in the diagnosis of saccular aortic aneurysm using spinal MRI and the importance of serial enhanced CT study in highly suspicious patients.

  10. Infected aortic aneurysm presenting as prevertebral abscess in magnetic resonance imaging: A case report

    International Nuclear Information System (INIS)

    Yu, Jung Re; Ko, Seong Joo; Heo, Sang Taek; Kim, Jin Seok; Kim, Seung Hyoung

    2013-01-01

    The differential diagnosis of mass-like lesions around the aorta includes saccular pseudoaneurysms and abscesses. A 69-year-old female was admitted with multiple abscesses and fluid collections in several muscles and joints. Methicillin susceptible Staphylococcus aureus was isolated from her blood and pus. Even though she was treated with repeated operations and appropriate antibiotics, her conditions worsened with persistent fever and newly developed abscesses at other sites. Serial enhanced computed tomography (CT) revealed a newly developed saccular abdominal aortic aneurysm in the retroaortic space at the celiac axis level. However, the infected aortic aneurysm mimicked a prevertebral abscess on enhanced spinal magnetic resonance imaging (MRI) due to its heterogeneous signal intensity caused by intraaneurysmal turbulent blood flow. We report to alert the pitfall in the diagnosis of saccular aortic aneurysm using spinal MRI and the importance of serial enhanced CT study in highly suspicious patients.

  11. Granulomatosis with Polyangiitis Presenting with Acute Aortic and Mitral Regurgitation: Case Report and Big-Data Analysis.

    Science.gov (United States)

    Al-Kindi, Sadeer G; Amer Al-Aiti, M; Yang, Michael; Josephson, Richard A

    2017-01-01

    Granulomatosis with polyangiitis (GPA) is a rare vasculitis that can have multisystem involvement, though cardiac involvement is very rare. The case is described of a 53-year-old woman who presented with acute aortic and mitral valve regurgitation requiring surgical intervention. Pathology from the excised aortic valve showed geographic necrosis concerning for GPA. Subsequent rheumatologic testing was positive for anti-serine proteinase 3 (PR3) antibody, consistent with GPA. A year after the valve surgery the patient was found to have a vegetation of the mitral valve and elevated PR3 antibody levels, and was successfully treated with an intensification of immunosuppression. The cardiac involvement of GPA is discussed and big data analyzed to identify the epidemiology of valvular involvement. In conclusion, GPA can have multiple different valvular manifestations with a high recurrence rate. GPA should be considered in patients who present with acute valvular disease without any clear precipitant.

  12. Different transcatheter strategies for aortic coarctation associated with patent ductus arteriosus

    Science.gov (United States)

    Singhi, Anil Kumar; Sivakumar, Kothandam

    2012-01-01

    Background Older patients with combination of aortic coarctation and large patent ductus arteriosus can be managed with transcatheter interventions. The strategies depend on anatomy of coarctation and size of ductus arteriosus. Methods We present three different patients with this combination. The anatomic factors like isthmic hypoplasia, dilatation of post coarctation descending aorta and size of ductus arteriosus were noted. Results Patients with isthmic hypoplasia needed stent angioplasty of the coarctation. If there is no dilatation of post coarctation aorta, a single covered stent excluded the ductus arteriosus and relieved the coarctation gradients. Dilated post coarctation aorta precluded a covered stent and warranted closure of duct with occluder device and stent angioplasty of coarctation. When there is a good sized aortic isthmus in a discrete membranous coarctation, device closure of the duct and balloon aortoplasty was successful. Conclusions In coarctation with patent ductus arteriosus associated with good sized aortic isthmus, closure of duct with duct occluder device and balloon aortoplasty would correct the lesions. If there is isthmic hypoplasia, device closure of the duct and stenting of the coarctation is needed. Covered stent is a reasonable alternative only in presence of non dilated descending aorta. PMID:22929832

  13. Gender-Related Differences in Presentation and Outcome of Acute Type a Aortic Dissection

    Directory of Open Access Journals (Sweden)

    Leili Pourafkari

    2017-09-01

    Full Text Available Background: Although acute type-A aortic dissection (AAOD is more common in males, the course of the disease may differ in females. Objectives: We aimed to investigate the gender-related differences in patients with AAOD with regard to clinical presentation, short-term and long-term mortality. Patients and Methods: Medical records of 192 patients with a confirmed diagnosis of AAOD in a University Heart Center from March 2004 through October 2015 were evaluated. Clinical information, hospital mortality, and long-term survival were explored with regard to gender. Propensity matching was performed to adjust for baseline differences. Kaplan-Meier survival analysis was used to determine the impact of gender on long-term mortality. Results: Among 192 patients, 71 (37.0% were females. The women were older (65.7 ± 13.8 vs. 53.9 ± 15.1 years, P < 0.001. Hypertension (77.5% vs. 56.7%; P = 0.006 and diabetes mellitus (12.7% vs. 0.1%; P = 0.001 were more common among women than men, while active smoking was significantly more prevalent in men (46.7% vs. 9.9%; P < 0.001. The frequency of various clinical presentations was not different between the two groups. Among men, 71.7% were surgically managed compared to 67.6% among women. In-hospital mortality was 50.7% in women and 42.1% in men and remained statistically similar after matching. For long-term survival female to male hazard ratio (HR was 1.24 with 95% CI: 0.85 - 1.81 (P = 0.257, which basically remained unchanged after propensity matching, HR was 1.13, 95%CI: 0.73 - 1.73 (P = 0.300. Conclusions: In patients admitted with AAOD, there was no gender-related differences in clinical presentation and type of management. Similarly, hospital and long-term mortality did not differ with regard to gender.

  14. [Femoral hypoplasia-unusual facies syndrome: A case report].

    Science.gov (United States)

    García V, Daniel; Aragón V, Carlos R; Treviño A, M Guadalupe; Rivera S, Gerardo

    2016-01-01

    Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infections, radiation, and oligohydramnios. The case of a newborn with this syndrome is presented. Newborn of 41 weeks gestation with small nose, thin upper lip, micrognathia, long philtrum, low set ears, epicanthal folds, dysplastic hips showing flexion, and adduction of the right leg, and shortening at the expense of the thigh. X-ray images revealed femoral hypoplasia and dysplastic acetabular roof. Different physicians from other specialties who excluded other associated malformations performed a complete evaluation. Surgical bone lengthening of lower limb is scheduled at 5 months of age, with the purpose that she walks with her own feet; at the same time she began management with kinesiotherapy. Femoral hypoplasia-unusual facies syndrome is a rare condition. A multidisciplinary health care team must treat individuals with femoral hypoplasia-unusual facies syndrome. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Diagnosis, imaging and clinical management of aortic coarctation

    NARCIS (Netherlands)

    Dijkema, Elles J; Leiner, Tim; Grotenhuis, Heynric B

    2017-01-01

    Coarctation of the aorta (CoA) is a well-known congenital heart disease (CHD), which is often associated with several other cardiac and vascular anomalies, such as bicuspid aortic valve (BAV), ventricular septal defect, patent ductus arteriosus and aortic arch hypoplasia. Despite echocardiographic

  16. Endovascular stent graft repair for thoracic aortic aneurysms: the history and the present in Japan.

    Science.gov (United States)

    Kawaguchi, Satoshi; Shimizu, Hideyuki; Yoshitake, Akihiro; Shimazaki, Taro; Iwahashi, Toru; Ogino, Hitoshi; Ishimaru, Shin; Shigematsu, Hiroshi; Yozu, Ryohei

    2013-01-01

    Stent-grafts for endovascular repair of thoracic aortic aneurysms have been commercially available for more than ten years in the West, whereas, in Japan, a manufactured stent-graft was not approved for the use until March 2008. Nevertheless, endovascular thoracic intervention began to be performed in Japan in the early 1990s, with homemade devices used in most cases. Many researchers have continued to develop their homemade devices. We have participated in joint design and assessment efforts with a stent-graft manufacturer, focusing primarily on fenestrated stent-grafts used in repairs at the distal arch, a site especially prone to aneurysm. In March 2008, TAG (W.L. Gore & Associates, Inc., Flagstaff, Arizona, USA) was approved as a stent graft for the thoracic area first in Japan, which was major turning point in treatment for thoracic aortic aneurysms. Subsequently, TALENT (Medtronic, Inc., Minneapolis, Minnesota, USA) was approved in May 2009, and TX2 (COOK MEDICAL Inc., Bloomington, Indiana, USA) in March 2011. Valiant as an improved version of TALENT was approved in November 2011, and TX2 Proform as an improved version of TX2 began to be supplied in October 2012. These stent grafts are excellent devices that showed good results in Western countries, and marked effectiveness can be expected by making the most of the characteristics of each device. A clinical trial in Japan on Najuta (tentative name) (Kawasumi Labo., Inc., Tokyo, Japan) as a line-up of fenestrated stent grafts that can be applied to distal arch aneurysms showing a high incidence, and allow maintenance of blood flow to the arch vessel was initiated. This trial was completed, and Najuta has just been approved in January of 2013 in Japan, and further development is expected. In the U.S., great efforts have recently been made to develop and manufacture excellent stent grafts for thoracic aneurysms, and rapid progress has been achieved. In particular, in the area of the aortic arch, in which we

  17. Quadricuspid Aortic Valve Combined with Moderate Ascending Aortic Dilatation: A Report of Four Cases.

    Science.gov (United States)

    Uspenskiy, Vladimir E; Osadchii, Alexei M; Gordeev, Mikhail L

    2015-12-01

    The quadricuspid aortic valve is a very uncommon malformation associated with aortic insufficiency, aortic stenosis, endocarditis, and ascending aortic dilatation. We report four cases of this aortic valve malformation. One patient with severe aortic regurgitation and moderate aortic dilatation required aortic valve replacement. Three patients had mild or moderate aortic insufficiency combined with moderate ascending aortic dilatation. These patients were referred to follow-up. The presented cases demonstrate that this aortic valve malformation may not be as rare as it appears and that attention must be paid to any quadricuspid findings during computed tomographic angiography and echocardiography.

  18. Combined Coronary Artery Bypass Grafting and Abdominal Aortic Aneurysm Repair: Presentation of 3 Cases and a Review of the Literature.

    Science.gov (United States)

    Williams, Andrew M; Watson, Jennifer; Mansour, M Ashraf; Sugiyama, George T

    2016-01-01

    Coronary artery disease and abdominal aortic aneurysmal disease can occur in a single patient, and a therapeutic conundrum presents when open surgical repair is indicated for both conditions. The traditional standard of care is to conduct coronary artery bypass grafting (CABG) followed by abdominal aortic aneurysm (AAA) repair 2-6 months later, but there is significant risk with staging these 2 major surgeries. An alternative method is to surgically repair both diseases in 1 combined operation. The aim of our study is to review our own experience with the combined procedure and to review the published literature to assess morbidity and mortality of combined CABG and AAA repair. A systematic search for relevant studies was performed in the PubMed/Medline database. Short-term mortality (repair. The mean age was 71 years, the average AAA size was 8.9 cm, and average operative time was 328 min. None experienced any postoperative complications. Two are still alive at 9 and 10 years after surgery, and 1 died of unrelated causes 8 years postoperatively. The results of this systematic review suggest that combined CABG and AAA repair is a viable procedure with low operative mortality. Patients with preserved ejection fractions, large AAA, and limited comorbidities appear to receive the most benefit from a combined approach based on reported data from the literature. We have experienced promising results in our highly selected patient population. More research is warranted to devise criteria to determine which patients would be good surgical candidates for this combined procedure. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Congenital horner syndrome with heterochromia iridis associated with ipsilateral internal carotid artery hypoplasia.

    Science.gov (United States)

    Deprez, Fabrice C; Coulier, Julie; Rommel, Denis; Boschi, Antonella

    2015-04-01

    Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis. We report herein the case of a 67-year-old man who presented with congenital HS associated with ipsilateral hypoplasia of the internal carotid artery (ICA), as revealed by heterochromia iridis and confirmed by computed tomography (CT). CT evaluation of the skull base is essential to establish this diagnosis and distinguish aplasia from agenesis/hypoplasia (by the absence or hypoplasia of the carotid canal) or from acquired ICA obstruction as demonstrated by angiographic CT.

  20. Internal right ventricular band for multiple ventricular septal defects in a neonate undergoing arterial switch and aortic arch repair.

    Science.gov (United States)

    Carroll, William W; Shirali, Girish S; Bradley, Scott M

    2011-01-01

    A neonate presented with d-transposition of the great arteries, aortic arch hypoplasia, aortic coarctation, and multiple ventricular septal defects. During the arterial switch procedure and the aortic arch repair, a fenestrated Gore-Tex disk (W.L. Gore & Assoc, Flagstaff, AZ) was sewn into the right ventricular outflow tract to restrict pulmonary blood flow. The internal right ventricular band successfully controlled the pulmonary blood flow, maintaining a systemic oxygen saturation of 88% to 92%, and allowing growth from 3.5 to 10.5 kg. At 8 months of age, the internal band in the patient was removed, and the ventricular septal defects were successfully closed. Copyright © 2011 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  1. [Pontocerebellar hypoplasia type 1: a case report].

    Science.gov (United States)

    Gómez-Lado, C; Landín-Iglesias, G; Pintos-Martínez, E; Pastor-Benavent, N; Eirís-Puñal, J; Castro-Gago, M

    Pontocerebellar hypoplasias constitute a group of hereditary neurodegenerative disorders of uncertain aetiopathogenesis. They have been reported as being associated with deficiencies of complexes in the mitochondrial respiratory chain (MRC) and with congenital disorders of glycosylation. On the basis of clinical and neuropathological criteria, two phenotypes can be distinguished in this condition. Pontocerebellar hypoplasia type 1 is characterised by hypoplasia of the pons and the cerebellum associated with the degeneration of the motor neurons in the anterior horn of the spinal cord. A 4-year-old female with symptoms of severe psychomotor retardation associated with microcephaly, important generalised hypotonia, muscle hypotrophy, contractions in the four limbs, absence of stretch reflex and epilepsy with onset in the neonatal period. Magnetic resonance imaging of the brain revealed pontocerebellar hypoplasia. An electroneuromyography showed a trace that was compatible with axonal neuropathy and a biopsy of the deltoid muscle revealed the existence of neurogenic muscular atrophy. In the MRC study conducted in muscle homogenate and in skin fibroblasts, complex IV values were found to be at the lower limits of what could be considered to be normal levels. Results of the genetic study for spinal muscular atrophy were negative. The case reported here could be included as a case of pontocerebellar hypoplasia type 1. MRC studies can be of interest in cases of pontocerebellar hypoplasia in order to explain the role it plays in this disorder.

  2. An Abdominal Aortic Aneurysm, Intramural Thrombus and Moderate Leak in an Asian Man Presenting with Acute Gastroenteritis

    Directory of Open Access Journals (Sweden)

    Abdalla Khalil

    2017-11-01

    Full Text Available Introduction: Missing a leaking abdominal aortic aneurysm (AAA is common in medical practice because few at-risk patients have a history of AAA and many have an unusual presentation. Background: AAA is less common among Asians than white Caucasians of the same age. Our patient had no significant risk factors apart from age and sex and had an unusual presentation. Patient and Methods: A 67-year-old Asian man presented to the emergency room (ER with a 1-day history of nausea, vomiting, diarrhoea, fever and abdominal pain. He was febrile, dehydrated. and had marked tenderness at the right iliac fossa. Laboratory findings suggested bacterial gastroenteritis but this did not explain the localized tenderness at the right iliac fossa. Result and Discussion: A CT scan of the abdomen revealed an AAA arising above the origins of the renal arteries, an intramural thrombus, a retroperitoneal haematoma and a leak extending to the right iliac fossa. The patient was transferred to another hospital and underwent exploratory laparotomy, surgical repair of the aneurysm, and aortobi-iliac grafting with removal of the thrombus. The patient was discharged in good shape 3 weeks after surgery. Without the CT scan of the abdomen, the AAA could have been missed and the patient treated for severe gastroenteritis.

  3. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

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    Shailesh Solanki

    2016-01-01

    Full Text Available A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis.

  4. Aortic Annular Enlargement during Aortic Valve Replacement

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    Selman Dumani

    2016-09-01

    Full Text Available In the surgery of aortic valve replacement is always attempted, as much as possible, to implant the larger prosthesis with the mains goals to enhance the potential benefits, to minimise transvalvular gradient, decrease left ventricular size and avoid the phenomenon of patient-prosthesis mismatch. Implantation of an ideal prosthesis often it is not possible, due to a small aortic annulus. A variety of aortic annulus enlargement techniques is reported to avoid patient-prosthesis mismatch. We present the case that has submitted four three times open heart surgery. We used Manouguian technique to enlarge aortic anulus with excellent results during the fourth time of surgery.

  5. Aerococcus christensenii native aortic valve subacute bacterial endocarditis (SBE) presenting as culture negative endocarditis (CNE) mimicking marantic endocarditis.

    Science.gov (United States)

    Jose, Anita; Cunha, Burke A; Klein, Natalie C; Schoch, Paul E

    2014-01-01

    This is a case report of an adult who presented with apparent culture negative endocarditis (CNE) thought to be marantic endocarditis due to a B-cell lymphoproliferative disorder. This was a most perplexing case and was eventually diagnosed as subacute bacterial endocarditis (SBE) due to a rare slow growing organism. Against the diagnosis of SBE was the lack of fever, hepatomegaly, peripheral manifestations and microscopic hematuria. Also, against a diagnosis of SBE was another explanation for the patient's abnormal findings, e.g., elevated ferritin levels, elevated α1/α2 globulins on SPEP, an elevated alkaline phosphatase, flow cytometry showing B-lymphocytes expressing CD5, and a bone lesion in the right iliac. Findings compatible with both SBE and marantic endocarditis due to a B-cell lymphoproliferative disorder included an elevated ESR, and splenomegaly. Blood cultures eventually became positive during hospitalization. We report a case of native aortic valve (AV) subacute bacterial endocarditis (SBE) due to Aerococcus christensenii mimicking marantic endocarditis due to a B-cell lymphoproliferative disorder. To the best of our knowledge, this is the first reported case of native AV SBE due to A. christensenii presenting as marantic endocarditis. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Aortic dissection

    Science.gov (United States)

    ... made in the chest or abdomen. Endovascular aortic repair. This surgery is done without any major surgical ... needed. If the heart arteries are involved, a coronary bypass is also performed. Outlook ... aneurysm - dissecting; Chest pain - aortic dissection; Thoracic aortic aneurysm - ...

  7. Arterial hypertension in patients with repaired coarctation and hypoplastic aortic arch

    Directory of Open Access Journals (Sweden)

    И. А. Сойнов

    2015-10-01

    Full Text Available At present, surgical techniques for treatment of CoA are well established and the mortality is one of the lowest amongst all CHD patients. Nevertheless, the incidence of arterial hypertension (AH, cerebrovascular disease and heart disease is still high even in those patients who have no signs of re-coarctation and deformity of aorta. According to several modern studies, these problems are thought to be due to microstructural changes of the aortic wall (disorders of the collagen-elastic carcass, malfunctions of the aortic baroreceptors and unnatural geometry of the aorta after surgery. This study was designed to analyze the possible causes of residual AH after surgical treatment of coarctation and hypoplasia of the aorta. A high incidence of residual AH is still a topical issue for this group of patients and requires further research of pathogenesis and optimal therapies of this disorder.

  8. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

    NARCIS (Netherlands)

    Namavar, Yasmin; Barth, Peter G.; Kasher, Paul R.; van Ruissen, Fred; Brockmann, Knut; Bernert, Günther; Writzl, Karin; Ventura, Karen; Cheng, Edith Y.; Ferriero, Donna M.; Basel-Vanagaite, Lina; Eggens, Veerle R. C.; Krägeloh-Mann, Ingeborg; de Meirleir, Linda; King, Mary; Graham, John M.; von Moers, Arpad; Knoers, Nine; Sztriha, Laszlo; Korinthenberg, Rudolf; Dobyns, William B.; Baas, Frank; Poll-The, Bwee Tien; van der Aa, Nathalie; Arts, Willem F. M.; Ades, Lesley C.; Bahi-Buisson, Nadia; Battini, Roberta; Bodamer, Olaf; Boltshauser, Eugen; Boycott, Kym; Brueton, Louise; Brussel, Wim; Chandler, K. E.; Cowan, Frances M.; Crow, Yanick; Debus, Otfried; Demir, Ercan; Hastanesi, Gazi; Eason, Jacqueline; Ferrie, Colin D.; Fisher, Richard B.; Foulds, Nicola; Freeman, Jeremy L.; Gooskens, Rob; Haeussler, Martin; Hageman, Gerard; Hammersen, Gerhard; Horn, Denise; Isidor, Bertrand; van der Knaap, Marjo S.; Kress, Wolfram; Kroisel, Peter M.; Kyllerman, Mårten; Lachmeijer, A. M. A.; Lunsing, Roelineke J.; McGillivray, George; Möllmann, Susanne; Muntoni, Francesco; Nemeth, Andrea H.; Neufeld-Kaiser, Whitney; van Nieuwenhuizen, Onno; Ouvrier, Robert; Pálmafy, Beatrix; Peeters, E. A. J.; Phillips, Joanna J.; Price, Susan; Rankin, Julia; Régal, Luc; de Rijk-van Andel, J. F.; Roelens, Filip; Rutledge, Joe C.; Ryan, Monique M.; Seidl, Rainer; Sellerer, Nina C.; Shannon, Nora L.; Sival, Deborah A.; Snoeck, I. N.; Straussberg, Rachel; Tijssen, Marina A. J.; Verloo, Patrick; de Vries, L. S.; Wargowski, David; Williams, Andrew N.; Windpassinger, Christian

    2011-01-01

    Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy,

  9. A Rare Case of Pulmonary Atresia with Ventricular Septal Defect with a Right Sided Aortic Arch and a Calcified Pulmonary AVM Presenting in an Adult without Cyanosis

    Directory of Open Access Journals (Sweden)

    Devendra V. Kulkarni

    2014-01-01

    Full Text Available Pulmonary atresia with ventricular septal defect (PA-VSD with pulmonary arterial supply arising from the aorta representing large MAPCAs associated with a right sided aortic arch is an uncommon anomaly. Most of the patients succumb to severe respiratory compromise or congestive cardiac failure very early. We report the clinical details and imaging findings of a case of PA-VSD with a right sided aortic arch and a calcified pulmonary arteriovenous malformation (AVM in a 21-year-old postpartum female with no previous episodes of cyanosis who was diagnosed as having a cardiac anomaly on echocardiography when she presented with breathlessness during the 8th month of the pregnancy.

  10. Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia.

    Science.gov (United States)

    Yamanaka, S; Nakao, Kazumasa; Koyama, N; Isobe, Y; Ueda, Y; Kanai, Y; Kondo, E; Fujii, T; Miura, M; Yasoda, A; Nakao, Kazuwa; Bessho, K

    2017-12-01

    Achondroplasia is the most common genetic form of human dwarfism, characterized by midfacial hypoplasia resulting in occlusal abnormality and foramen magnum stenosis, leading to serious neurologic complications and hydrocephalus. Currently, surgery is the only way to manage jaw deformity, neurologic complications, and hydrocephalus in patients with achondroplasia. We previously showed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth of long bones and vertebrae and is also a potent stimulator in the craniofacial region, which is crucial for midfacial skeletogenesis. In this study, we analyzed craniofacial morphology in a mouse model of achondroplasia, in which fibroblast growth factor receptor 3 (FGFR3) is specifically activated in cartilage ( Fgfr3 ach mice), and investigated the mechanisms of jaw deformities caused by this mutation. Furthermore, we analyzed the effect of CNP on the maxillofacial area in these animals. Fgfr3 ach mice exhibited midfacial hypoplasia, especially in the sagittal direction, caused by impaired endochondral ossification in craniofacial cartilage and by premature closure of the spheno-occipital synchondrosis, an important growth center in craniomaxillofacial skeletogenesis. We crossed Fgfr3 ach mice with transgenic mice in which CNP is expressed in the liver under the control of the human serum amyloid-P component promoter, resulting in elevated levels of circulatory CNP ( Fgfr3 ach /SAP-Nppc-Tg mice). In the progeny, midfacial hypoplasia in the sagittal direction observed in Fgfr3 ach mice was improved significantly by restoring the thickness of synchondrosis and promoting proliferation of chondrocytes in the craniofacial cartilage. In addition, the foramen magnum stenosis observed in Fgfr3 ach mice was significantly ameliorated in Fgfr3 ach /SAP-Nppc-Tg mice due to enhanced endochondral bone growth of the anterior intraoccipital synchondrosis. These results clearly demonstrate the therapeutic

  11. Method for imaging pulmonary arterial hypoplasia

    International Nuclear Information System (INIS)

    Triantafillou, M.

    2000-01-01

    Full text: Pulmonary hypoplasia represents an incomplete development of the lung, resulting in the reduction of distended lung volume. This is associated with small or absent number of airway divisions, alveoli, arteries and veins. Unilateral pulmonary Hypoplasia is often asymptomatic and may be demonstrated as a hypodense lung on a chest X-ray. Computer Tomography (CT) scanning would show anatomical detail and proximal vessels. Magnetic Resonance Imaging (MRI) will show no more detail than which the CT scan has already demonstrated. It is, also, difficult to visualise collateral vessels from systemic and/or bronchial vessels on both these modalities. Pulmonary Angiography would give the definitive answer, but it is time consuming and has significant risks associated with the procedure. There are high costs associated with these modalities. Nuclear Medicine Ventilation/Perfusion (V/Q) scan performed on these patients would demonstrate diminished ventilation due to reduced lung volume and absence of perfusion to the hypoplastic lung. To date, we have performed V/Q lung scan on two children in our department. Both cases demonstrate diminished ventilation with no perfusion to the hypoplastic lung. Though the gold standard is Pulmonary Angiography, V/Q scanning is cost effective, less time consuming and a non invasive procedure that can be performed as an outpatient. It is accurate as it demonstrates absent lung perfusion, confirming the patient has pulmonary arterial hypoplasia. Copyright (2000) The Australian and New Zealand Society of Nuclear Medicine Inc

  12. A Right-sided Aortic Arch with Kommerell's Diverticulum of the Aberrant Left Subclavian Artery Presenting with Syncope

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    Ming-Hsun Yang

    2009-05-01

    Full Text Available A right-sided aortic arch with an aneurysm of the aberrant subclavian artery is a rare disease. We report a case of Kommerell's diverticulum of an aberrant left subclavian artery in a patient with a right-sided aortic arch. Fewer than 50 cases have been reported in the literature. A number of operative strategies are described. Right thoracotomy provides good exposure and avoids the morbidity associated with bilateral thoracotomy or sternotomy and thoracotomy. In our patient with symptoms of dysphagia, syncope, and left subclavian steal syndrome, a left thoracotomy was used. The repair was accomplished by division of a left ligamentum arteriosum, obliteration of the Kommerell's aneurysm, and an aorto-subclavian bypass. Postoperative complications included left vocal cord palsy and Horner's syndrome. Hoarseness and left ptosis recovered spontaneously 3 months after surgery, and the patient remained symptom-free at the 1-year follow-up. We believe a left thoracotomy for direct repair of Kommerell's diverticulum is a simple and safe method without the increased morbidity found in other procedures.

  13. Enamel hypoplasia and its role in identification of individuals: A review of literature

    Science.gov (United States)

    Kanchan, Tanuj; Machado, Meghna; Rao, Ashwin; Krishan, Kewal; Garg, Arun K.

    2015-01-01

    Identification of individuals is the mainstay of any forensic investigation especially in cases of mass disasters when mutilated remains are brought for examination. Dental examination helps in establishing the identity of an individual and thus, has played a vital role in forensic investigation process since long. In this regard, description on the role of enamel hypoplasia is limited in the literature. The present article reviews the literature on the enamel hypoplasia and discusses its utility in forensic identification. Enamel hypoplasia is a surface defect of the tooth crown caused by disturbance of enamel matrix secretion. Enamel defects can be congenital or acquired. In cases of mass disasters, or when the body is completely charred, putrefied and mutilated beyond recognition, the unique dental features can help in identification of the victims. PMID:26097340

  14. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

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    Harshithaa Thavarajah

    2017-01-01

    Full Text Available Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks’ gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks’ gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder.

  15. Bilateral coronoid hypoplasia and complex odontoma: a rare concurrence of developmental pathology and odontogenic tumour of the mandible.

    Science.gov (United States)

    Dar, Mohd Arif; Alaparthi, Ravikiran; Yalamanchili, Samatha; Santosh, Arvind Babu Rajendra

    2015-10-13

    We present a rare case of concurrent bilateral coronoid hypoplasia and complex odontoma in the mandible, with replacement of missing posterior teeth in both sides of the lower jaw. A 20-year-old woman was diagnosed with bilateral occurrence of coronoid hypoplasia and unerupted complex odontoma after radiographic and histopathological examination. The patient was surgically treated with complete removal of the unerupted complex odontoma and prosthetic replacement of the missing teeth. 2015 BMJ Publishing Group Ltd.

  16. X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

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    Metwalley Kotb

    2012-12-01

    Full Text Available Abstract Introduction X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1 gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1 gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature. Case presentation A 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized. Conclusions We report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due

  17. Impact of Aortic Insufficiency on Ascending Aortic Dilatation and Adverse Aortic Events After Isolated Aortic Valve Replacement in Patients With a Bicuspid Aortic Valve.

    Science.gov (United States)

    Wang, Yongshi; Wu, Boting; Li, Jun; Dong, Lili; Wang, Chunsheng; Shu, Xianhong

    2016-05-01

    Aberrant flow pattern and congenital fragility bestows bicuspid aortic valve (BAV) with a propensity toward ascending aorta dilatation, aneurysm, and dissection. Whether isolated aortic valve replacement (AVR) can prevent further dilatation in BAV ascending aorta and what indicates concurrent aortic intervention in the case of valve operation remain controversial. From June 2006 to January 2009, patients with a BAV who underwent isolated AVR were consecutively included and categorized into aortic insufficiency (BAV-AI, n = 84) and aortic stenosis (n = 112) groups, and another population of patients with a tricuspid aortic valve with aortic insufficiency (n = 149) was also recruited during the same period for comparison of annual aortic dilatation rate and adverse aortic events after isolated AVR. With a median follow-up period of 72 months (interquartile range, 66 to 78 months), ascending aorta dilatation rates were faster in the BAV-AI group than the BAV plus aortic stenosis and tricuspid aortic valve with aortic insufficiency groups (both p regression analysis identified aortic insufficiency (hazard ratio, 3.7; 95% confidence interval, 1.2 to 11.1; p = 0.019) as an independent risk factor for adverse aortic events among patients with BAV in general, whereas preoperative ascending aortic diameter larger than 45 mm (hazard ratio, 13.8; 95% confidence interval, 3.0 to 63.3; p = 0.001) served as a prognostic indicator in the BAV-AI group. An aggressive policy of preventive aortic interventions seemed appropriate in patients with BAV-AI during AVR, and BAV phenotype presenting as either insufficiency or stenosis should be taken into consideration when contemplating optimal surgical strategies for BAV aortopathy. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  18. Osteopathia striata: A characteristic X-ray finding in focal dermal hypoplasia (Goltz-Gorlin syndrome)

    International Nuclear Information System (INIS)

    Barthels, W.; Boepple, D.; Petzel, H.

    1982-01-01

    Two cases of the very rare Goltz-Gorlin syndrome are presented. The relationship of osteopathia striata and focal dermal hypoplasia is discussed, and it is concluded that the osteopathia striata represents the characteristic picture of this ectopic mesodermal abnormality. (orig.)

  19. Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.

    Science.gov (United States)

    Riley, Patrick; Weiner, Dennis S; Leighley, Bonnie; Jonah, David; Morton, D Holmes; Strauss, Kevin A; Bober, Michael B; Dicintio, Martin S

    2015-04-01

    Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. The disorder has several characteristic orthopaedic manifestations, including joint laxity, limited elbow extension, ankle varus, and genu varum. Immunodeficiency is of concern in most cases. Although patients exhibit orthopaedic problems, the orthopaedic literature on CHH patients is scant at best. The objective of this study was to characterize the orthopaedic manifestations of CHH based on the authors' unique access to the largest collection of CHH patients ever reported. The authors examined charts and/or radiographs in 135 cases of CHH. We analyzed the orthopaedic manifestations to better characterize and further understand the orthopaedic surgeon's role in this disorder. In addition to describing the clinical characteristics, we report on our surgical experience in caring for CHH patients. Genu varum, with or without knee pain, is the most common reason a patient with CHH will seek orthopaedic consultation. Of the cases reviewed, 32 patients had undergone surgery, most commonly to correct genu varum. This paper characterizes the orthopaedic manifestations of CHH. Characterizing this condition in the orthopaedic literature will likely assist orthopaedic surgeons in establishing a correct diagnosis and appreciating the orthopaedic manifestations. It is important that the accompanying medical conditions are appreciated and evaluated.

  20. Traumatic Aortic Injury

    Directory of Open Access Journals (Sweden)

    Brianna Miner

    2016-09-01

    Full Text Available History of present illness: A 48-year-old male with unknown past medical history presents as a trauma after being hit by a car traveling approximately 25 miles per hour. On initial presentation, the patient is confused, combative, and not answering questions appropriately. The patient is hypotensive with a blood pressure of 68/40 and a heart rate of 50 beats per minute, with oxygen saturation at 96% on room air. FAST scan is positive for fluid in Morrison’s pouch, splenorenal space, and pericardial space. Significant findings: The initial chest x-ray showed an abnormal superior mediastinal contour (blue line, suggestive of a possible aortic injury. The CT angiogram showed extensive circumferential irregularity and outpouching of the distal aortic arch (red arrows compatible with aortic transection. In addition, there was a circumferential intramural hematoma, which extended through the descending aorta to the proximal infrarenal abdominal aorta (green arrow. There was also an extensive surrounding mediastinal hematoma extending around the descending aorta and supraaortic branches (purple arrows. Discussion: Traumatic aortic injury is a life-threatening event. The incidence of blunt thoracic aortic injury is low, between 1 to 2 percent of those patients with blunt thoracic trauma.1 However, approximately 80% of patients with traumatic aortic injury die at the scene.2 Therefore it is imperative to diagnose traumatic aortic injury in a timely fashion. The diagnosis can be difficult due to the non-specific signs and symptoms and other distracting injuries. Clinical suspicion should be based on the mechanism of the injury and the hemodynamic status of the patient. In any patient with blunt or penetrating trauma to the chest that is hemodynamically unstable, traumatic aortic injury should be on the differential. Chest x-ray can be used as a screening tool. A normal chest x-ray has a negative predictive value of approximately 97%. CTA chest is the

  1. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    Science.gov (United States)

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Artery Agenesis: Ipsilateral Common Carotid Artery Hypoplasia

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    Omer Kaya

    2014-01-01

    Full Text Available A 42-year-old female patient, who had been diagnosed with an occlusion of her left internal carotid artery (ICA following Doppler ultrasonographic (US and digitally-subtracted angiographic (DSA examinations performed in an outer healthcare center in order to eliminate the underlying cause of her complaint of amorosis fugax, later applied to our hospital with the same complaint. At Doppler US performed in our hospital’s radiology department, her right common carotid artery (CCA was normal, but her left CCA was hypoplastic. The right internal artery (ICA was validated as normal. At the left side, however, the ICA was apparent only as a stump and it did not demonstrate a continuity. The diagnosis of ICA agenesis was confirmed by the utilization of Doppler US, CT, and DSA imaging, and it was concluded also that ipsilateral CCA hypoplasia could be evaluated as an important clue to the diagnosis of ICA agenesis.

  3. Different transcatheter strategies for aortic coarctation associated with patent ductus arteriosus

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    Anil Kumar Singhi

    2012-07-01

    Conclusions: In coarctation with patent ductus arteriosus associated with good sized aortic isthmus, closure of duct with duct occluder device and balloon aortoplasty would correct the lesions. If there is isthmic hypoplasia, device closure of the duct and stenting of the coarctation is needed. Covered stent is a reasonable alternative only in presence of non dilated descending aorta.

  4. Prenatal and neonatal variables associated with enamel hypoplasia in deciduous teeth in low birth weight preterm infants

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    Kátia Maria Dmytraczenko Franco

    2007-12-01

    Full Text Available This study investigated possible prenatal and neonatal variables that may influence the prevalence of tooth enamel hypoplasia in preterm and low birth weight children (LBW and a matched control group of term children with normal birth weight (NBW. The study sample consisted of 61 children born preterm and with LBW examined at 18-34 months of age. The control group was formed by 61 infants born full term and with NBW examined at 31-35 months of age. All children were born at the Center of Integrated Attention of Women's Health (CAISM-UNICAMP. FDI criteria were followed for dental examination. Medical data was collected retrospectively from hospital records. Among preterms, 57.4% had some type of developmental defects of enamel (DDE, 52.5 % had opacities and 21.3 % presented hypoplasia. Among full-term children, 24.6% presented DDE, 24.6% had opacities and 3.3% had hypoplasia. LBW preterm infants presented a higher prevalence of hypoplasia than NBW controls. The deciduous teeth most affected by hypoplasia were maxillary incisors. There was no significant association with prenatal variables; among neonatal variables there was a significant association with respiratory distress syndrome and neurological examination at discharge with an altered result.

  5. Brain stem hypoplasia associated with Cri-du-Chat syndrome

    International Nuclear Information System (INIS)

    Hong, Jin Ho; Lee, Ha Young; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu

    2013-01-01

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

  6. The radiological features of Goltz syndrome: Focal dermal hypoplasia

    International Nuclear Information System (INIS)

    Boothyrod, A.E.; Hall, C.M.

    1988-01-01

    Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated for severe feeding problems and failure to thrive. Both demonstrated severe skeletal malformations and marked gastrooesophageal reflux with laxity of the hiatus. One child (case 1) exhibited nasal regurgitation during feeding. Interestingly, both children had undergone surgery; Case 1 or a right parasagittal abdominal hernia associated with focal dermal hypoplasia of the abdominal wall and Case 2 for an exomphalos also associated with dermal hypoplasia. This observation suggests more widespread mesodermal abnormality. (orig./GDG)

  7. Brain stem hypoplasia associated with Cri-du-Chat syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Jin Ho; Lee, Ha Young; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu [Dept. of Radiology, Inha University Hospital, Inha University School of Medicine, Incheon (Korea, Republic of)

    2013-12-15

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

  8. Treatment of severe maxillary cleft hypoplasia in a case with missing premaxilla with anterior maxillary distraction using tooth-borne hyrax appliance

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    Akshai Shetty

    2015-01-01

    Full Text Available Cleft orthodontics generally poses a challenge and a missing premaxilla adds to the difficulty in managing them. The lack of bone support and anterior teeth in a case with missing premaxilla accounts not only for difficulty in rehabilitation but also in increasing the maxillary hypoplasia. This article presents a case report where planned orthodontic and surgical management using distraction has helped treat a severe maxillary hypoplasia in a patient with missing premaxilla. The treatment plan and method can be used to treat severe maxillary hypoplasia and yield reasonably acceptable results for such patients.

  9. TSEN54 mutations cause pontocerebellar hypoplasia type 5

    NARCIS (Netherlands)

    Namavar, Yasmin; Chitayat, David; Barth, Peter G.; van Ruissen, Fred; de Wissel, Marit B.; Poll-The, Bwee Tien; Silver, Rachel; Baas, Frank

    2011-01-01

    Pontocerebellar hypoplasia (PCH) is a group of autosomal recessive neurodegenerative disorders characterized by prenatal onset of stunted brain growth and progressive atrophy predominantly affecting cerebellum, pons and olivary nuclei, and to a lesser extent also the cerebral cortex. Six subtypes

  10. Pontocerebellar hypoplasia associated with respiratory-chain defects

    NARCIS (Netherlands)

    de Koning, T. J.; de Vries, L. S.; Groenendaal, F.; Ruitenbeek, W.; Jansen, G. H.; Poll-The, B. T.; Barth, P. G.

    1999-01-01

    Pontocerebellar hypoplasias are congenital disorders of brain morphogenesis which include such diverse etiologies as carbohydrate-deficient glycoprotein syndrome type 1, cerebromuscular dystrophies (Walker-Warburg syndrome, Fukuyama syndrome, muscle-eye-brain disease) and at least two types of

  11. Enamel hypoplasia in the middle pleistocene hominids from Atapuerca (Spain).

    Science.gov (United States)

    Bermúdez de Castro, J M; Pérez, P J

    1995-03-01

    The prevalence and chronology of enamel hypoplasias were studied in a hominid dental sample from the Sima de los Huesos (SH) Middle Pleistocene site at the Sierra de Atapuerca (Burgos, northern Spain). A total of 89 permanent maxillary teeth, 143 permanent mandibular teeth, and one deciduous lower canine, belonging to a minimum of 29 individuals, were examined. Excluding the antimeres (16 maxillary and 37 mandibular cases) from the sample, the prevalence of hypoplasias in the permanent dentition is 12.8% (23/179), whereas the deciduous tooth also showed an enamel defect. No statistically significant differences were found between both arcades and between the anterior and postcanine teeth for the prevalence of hypoplasias. In both the maxilla and the mandible the highest frequency of enamel hypoplasias was recorded in the canines. Only one tooth (a permanent upper canine) showed two different enamel defects, and most of the hypoplasias were expressed as faint linear horizontal defects. Taking into account the limitations that the incompleteness of virtually all permanent dentitions imposes, we have estimated that the frequency by individual in the SH hominid sample was not greater than 40%. Most of the hypoplasias occurred between birth and 7 years (N = 18, X = 3.5, SD = 1.3). Both the prevalence and severity of the hypoplasias of the SH hominid sample are significantly less than those of a large Neandertal sample. Furthermore, prehistoric hunter-gatherers and historic agricultural and industrial populations exhibit a prevalence of hypoplasias generally higher than that of the SH hominids. Implications for the survival strategies and life quality of the SH hominids are also discussed.

  12. Unilateral hypoplasia with contralateral hypertrophy of anterior belly of digastric muscle: a case report.

    Science.gov (United States)

    Ochoa-Escudero, Martin; Juliano, Amy F

    2016-10-01

    Anomalies of the anterior belly of the digastric muscle (DM) are uncommon. We present a case of hypoplasia of the anterior belly of the left DM with hypertrophy of the anterior belly of the contralateral DM. The importance of recognizing this finding is to differentiate hypoplasia of the anterior belly of the DM from denervation atrophy, and not to confuse contralateral hypertrophy with a submental mass or lymphadenopathy. In denervation atrophy of the anterior belly of the DM, associated atrophy of the ipsilateral mylohyoid muscle is present. Hypertrophy of the anterior belly of the contralateral DM can be differentiated from a submental mass or lymphadenopathy by recognizing its isodensity on computed tomography and isointensity on magnetic resonance imaging to other muscles, without abnormal contrast enhancement.

  13. A Case of Swyer-James-Macleod Syndrome Associated with Middle Lobe Hypoplasia and Arteriovenous Malformation

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    Hatice Kaplanoglu

    2012-01-01

    Full Text Available A 58-year-old female patient presented to the hospital with hearing loss. In the chest radiography obtained before her ear surgery, volume decrease in the right hemithorax, elevation of the right diaphragm, and increase of ventilation in the right lung were detected. At the thorax CT-CT angiography, hypoplasia of the main pulmonary artery and its branches and arteriovenous malformation localized in the middle lobe of the right lung were detected. Thus, diagnosis of Swyer-James-Macleod syndrome associated with right lung middle lobe hypoplasia and arteriovenous malformation was made. This kind of association has not been reported earlier, so we are presenting it in the light of the literature knowledge.

  14. Unilateral congenital hypoplasia of the internal carotid artery in a newborn: a rare case report

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    Liliana Valentino

    2015-04-01

    Full Text Available Hypoplasia of one or both internal carotid artery (ICA is a rare congenital developmental abnormality. The early neurological presentation of this disorder is rare because many of these cases remain asymptomatic and go undetected due to the presence of collateral vessels. We describe a newborn that presented with seizures at 27 hours after birth. Extended ischemia of the right hemisfere was observed on computed tomography (CT, while the 3D MIP reconstruction showed hypoplasia of right internal carotid artery. After about 3 weeks, the rapid improvement of the newborn’s cerebral ultrasound and EEG allowed to discontinue corticosteroid and sedative therapy. The infant was discharged after 40 days of life in good clinical condition.

  15. Large aortic root pseudoaneurysm occurring late after aortic root repair and valve replacement for endocarditis

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    Prashanth Panduranga

    2013-01-01

    Full Text Available A 68-year-old male presented with Group B Streptococcus aortic valve (AV endocarditis with aortic root abscess and refractory sepsis. An emergency cardiac surgery was performed with root abscess drainage, excision and debridement of necrotic tissue, reconstruction of annulus, and AV replacement. Fifteen months later he presented with a huge aortic root pseudoaneurysm (PA. This case illustrates late occurrence of aortic root PA following AV surgery for endocarditis.

  16. Generalized seizures in the right hippocampus sclerosis combined with hypoplasia of the right vertebral artery

    International Nuclear Information System (INIS)

    Manchev, L.; Toneva, J.; Manolova, T.; Manchev, I.; Valcheva, V.

    2016-01-01

    We present a clinical case of generalized epileptic seizures, occurring suddenly. The common finding from MRI of the brain is sclerosis of the right hippocampus, while MR angiography shows hypoplasia of the right vertebral artery. There are EEG signs for single foci of abnormal activity more on the right side. An anticonvulsant and symptomatic treatment demonstrate a favorable result. Under discussion is the question of surgery treatment. Key words: Hippocampal Sclerosis. MRI. Epileptic Seizures

  17. Does an expanding fetal abdominal mass produce pulmonary hypoplasia?

    Science.gov (United States)

    Sauer, L; Harrison, M R; Flake, A W; Krummel, T R

    1987-06-01

    Fetal pulmonary hypoplasia has been related to multiple factors. In an effort to define which fetuses may benefit from prenatal intervention to prevent or reverse pulmonary hypoplasia, we studied the relative contribution of an enlarging abdominal mass in the fetus. We produced abdominal masses in fetal rabbits at 24 days gestation by two methods. In one group, a small cylindrical chip of Takasen, (a synthetic polymer that expands to 50 times its size in 1 week; Grobeast, Pop Art Co, Cleveland, OH) was inserted into the peritoneal cavity of the fetal rabbit; in another group, the bladder neck was obstructed with a surgical clip. Amniotic fluid volume was restored at the surgical procedure. Sham-operated littermates served as controls. At cesarean delivery on day 30, fetal lung, liver, and body weights were measured, and the abdominal masses were quantitated by volume displacement of the removed mass or bladder. In both groups large abdominal masses of comparable size were produced. Newborns with the synthetic abdominal mass did not have significant pulmonary hypoplasia, but often had a prune belly deformity of the abdominal wall, whereas newborns with bladder obstruction had significant pulmonary hypoplasia. Liver weight was not significantly affected. We conclude that a fetal abdominal mass does not independently produce pulmonary hypoplasia, possibly because the "mass effect" is relieved by distension of the abdominal wall rather than elevation of the diaphragm; the pulmonary hypoplasia that occurs in bladder outlet obstruction is probably due to the associated oligohydramnios rather than the mass effect of the dilated urinary tract; and prenatal decompression of an abdominal mass or dilated urinary tract is not justified to prevent pulmonary hypoplasia in the absence of oligohydramnios.

  18. Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements

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    Morokuma Seiichi

    2010-08-01

    Full Text Available Abstract Background Micrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin that fails to maintain the tongue in a forward position. We previously reported a system of prenatal screening that we developed to identify fetuses with compromised central nervous system function by observing fetal behavior. In this paper we report the case of a preterm infant with micrognathia and pulmonary hypoplasia who presented abnormal fetal movements. Case presentation A 27-year-old Japanese primigravida at 33 weeks of gestation was referred to our hospital. Ultrasonographic examination revealed clinical polyhydramnios. Micrognathia was evident on midsagittal and 3 D scan. The lung area was less than the mean -2.0 standard deviations for the gestational age. The infant had mandibular hypoplasia and glossoptosis. After emergency cesarean delivery for non-reasuring fetal status, required immediate tracheostomy and cardiopulmonary resuscitation with mechanical ventilatory support. However, the infant's cardiopulmonary condition did not improve and she died 21 hours after birth. Conclusions The findings of our ultrasound exam are suggestive of brain dysfunction. The observation of fetal behavior appears to be effective for the prediction of prognosis of cases with micrognathia.

  19. Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

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    Masuda N

    2014-09-01

    Full Text Available Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He also had horizontal nystagmus and depigmented irides. His best-corrected visual acuity was 2/100 with -14.0 diopters in the right eye and 3/100 with -5.0 diopters in the left eye. Ophthalmoscopy showed diffuse depigmentation in both eyes and a foveal hemorrhage in the right eye. Optical coherence tomography showed the absence of a foveal pit in both eyes and a subretinal hyperreflective lesion corresponding to the foveal hemorrhage in the right eye. Fluorescein angiography showed that the retinal and choroidal vessels were relatively hypofluorescent because of the lack of a blocking effect of the pigments in the retinal pigment epithelium. Fluorescein angiography and indocyanine green angiography did not show any evidence of choroidal neovascularization in either eye. The foveal hemorrhage in the right eye spontaneously regressed and finally resolved at 3 months after onset. At the final examination, the patient reported that his vision had recovered. A foveal hemorrhage is a rare condition in an eye with foveal hypoplasia associated with albinism. The hemorrhage may be related to high myopia and also to the hypoplasia of the fovea associated with albinism. Keywords: albinism, foveal hemorrhage, foveal hypoplasia, simple hemorrhage

  20. Aortic Dissection

    Science.gov (United States)

    ... Follow a low-salt diet with plenty of fruits, vegetables and whole grains and exercise regularly. Wear a seat belt. This reduces the risk of traumatic injury to your chest area. Work with your doctor. If you have a family history of aortic dissection, a connective tissue disorder or ...

  1. Urethral hydrodistension for management of urethral hypoplasia in prune belly syndrome: long-term results.

    Science.gov (United States)

    Kajbafzadeh, Abdol-Mohammad; Rasouli, Mohammad Reza; Dianat, SeyedSaeid; Nezami, Behtash G; Mahboubi, Amir Hassan; Sina, Alireza

    2010-11-01

    The aim of the study was to evaluate the efficacy and safety of urethral hydrodistension for management of urethral hypoplasia in prune belly syndrome (PBS). During a 10-year period, 7 infants with PBS and urethral hypoplasia presented either with open urachus or surgically created urinary diversion referred to our hospital. Five milliliters of normal saline was pushed via a 22-gauge plastic angiocatheter into the urethra with simultaneous finger pressure on the perineum to occlude the proximal urethra that was repeated with higher volumes of the solution (up to 20 mL). The procedure was continued until a 6F or 8F feeding tube catheter confirmed the urethral patency. Hydrodistension was repeated in 3-month intervals till complete patency was confirmed by imaging. Median age of the infants was 6 (1-8) months. All urethral hydrodistension were successful after 1 to 3 sessions. Follow-up imaging studies showed significant improvement in all patients except one. Natural and surgically created urinary diversions were closed in 6 infants. The hydrodistension create an equal and constant pressure into the urethral wall without any urethral damage. This technique can be considered along with the other available methods for management of urethral hypoplasia in selected cases of PBS. Copyright © 2010 Elsevier Inc. All rights reserved.

  2. [Pulmonary hypoplasia: An analysis of cases over a 20-year period].

    Science.gov (United States)

    Delgado-Peña, Yanny Paola; Torrent-Vernetta, Alba; Sacoto, Gabriela; de Mir-Messa, Inés; Rovira-Amigo, Sandra; Gartner, Silvia; Moreno-Galdó, Antonio; Molino-Gahete, José Andrés; Castillo-Salinas, Felíx

    2016-08-01

    Pulmonary hypoplasia is the most frequent congenital anomaly associated with perinatal mortality. A retrospective and descriptive review was conducted on cases of patients diagnosed with pulmonary hypoplasia between 1995 and 2014 in a tertiary university hospital. An analysis was made of the prenatal imaging, clinical manifestations, post-natal diagnostic tests, treatment and management, long-term follow up, and survival data. A total of 60 cases were identified, all of them with prenatal imaging. Sixteen patients required foetal surgery. Congenital diaphragmatic hernia was the most frequent diagnosis. Main clinical presentation was respiratory distress with severe hypoxemia and high requirements of mechanical ventilation. Mortality rate was 47% within first 60 days of life, and 75% for the first day of life. Pneumonia and recurrent bronchitis episodes were observed during follow-up. They had a lung function obstructive pattern, and their quality of life and exercise tolerance was good. High neonatal mortality and significant long-term morbidity associated with pulmonary hypoplasia requires an early diagnosis and a specialised multidisciplinary team management. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Maxillary hypoplasia in the cleft patient: contribution of orthodontic dental space closure to orthognathic surgery.

    Science.gov (United States)

    Lee, Justine C; Slack, Ginger C; Walker, Ryann; Graves, Lindsay; Yen, Sandra; Woo, Jessica; Ambaram, Rishal; Martz, Martin G; Kawamoto, Henry K; Bradley, James P

    2014-02-01

    Cleft lip and palate surgery in the developing child is known to be associated with maxillary hypoplasia. However, the effects of nonsurgical manipulations on maxillary growth have not been well investigated. The authors present the contribution of orthodontic dental space closure with canine substitution to maxillary hypoplasia and the need for orthognathic surgery. Cleft lip/palate and cleft palate patients older than 15 years of age were reviewed for dental anomalies, orthodontic canine substitution, and Le Fort I advancement. Skeletal relationships of the maxilla to the skull base (SNA), mandible (ANB), and facial height were determined on lateral cephalograms. Logistic regression analyses were performed to estimate odds ratios. Ninety-five patients were reviewed (mean age, 18.1 years). In 65 patients with congenitally missing teeth, 55 percent with patent dental spaces required Le Fort I advancement. In contrast, 89 percent who underwent canine substitution required Le Fort I advancement (p = 0.004). Canine substitution is associated with a statistically significant increase in maxillary retrognathia when compared with dental space preservation on lateral cephalograms (mean SNA, 75.2 and 79.0, respectively; p = 0.006). Adjusting for missing dentition, logistic regression analyses demonstrated that canine substitution is an independent predictor for orthognathic surgery (OR, 6.47) and maxillary retrusion defined by SNA orthodontic cleft closure using canine substitution with maxillary hypoplasia and subsequent Le Fort I advancement, and suggest systematic criteria for management of cleft-related dental agenesis. Therapeutic, III.

  4. Aortic Root Enlargement or Sutureless Valve Implantation?

    Directory of Open Access Journals (Sweden)

    Nikolaos G. Baikoussis

    2016-11-01

    Full Text Available Aortic valve replacement (AVR in patients with a small aortic annulus is a challenging issue. The importance of prosthesis–patient mismatch (PPM post aortic valve replacement (AVR is controversial but has to be avoided. Many studies support the fact that PPM has a negative impact on short and long term survival. In order to avoid PPM, aortic root enlargement may be performed. Alternatively and keeping in mind that often some comorbidities are present in old patients with small aortic root, the Perceval S suturelles valve implantation could be a perfect solution. The Perceval sutureless bioprosthesis provides reasonable hemodynamic performance avoiding the PPM and providing the maximum of aortic orifice area. We would like to see in the near future the role of the aortic root enlargement techniques in the era of surgical implantation of the sutureless valve (SAVR and the transcatheter valve implantation (TAVI.

  5. Unilateral segmental odontomaxillary hypoplasia: an unusual case report

    Energy Technology Data Exchange (ETDEWEB)

    Pandey, Sushma; Pai, Keerthilatha M; Nayak, Ajay G; Vineetha, Ravindranath [Manipal College of Dental Sciences, Manipal (India)

    2011-03-15

    Facial asymmetry is not an uncommon occurrence in day to day dental practice. It can be caused by various etiologic factors ranging from facial trauma to serious hereditary conditions. Here, we report a rare case of non-syndromic facial asymmetry in a young female, who was born with this condition but was not aware of the progression of asymmetry. No relevant family history was recognized. She was also deficient in both deciduous and permanent teeth in the corresponding region of maxilla. Hence, the cause of this asymmetry was believed to be a segmental odontomaxillary hypoplasia of left maxilla accompanied by agenesis of left maxillary premolars and molars and disuse atrophy of corresponding facial musculature. This report briefly discussed the comparative features of segmental odontomaxillary hypoplasia, hemimaxillofacial dysplasia, and segmental odontomaxillary dysplasia and justified the differences between segmental odontomaxillary hypoplasia and the other two conditions.

  6. Unilateral segmental odontomaxillary hypoplasia: an unusual case report

    International Nuclear Information System (INIS)

    Pandey, Sushma; Pai, Keerthilatha M; Nayak, Ajay G; Vineetha, Ravindranath

    2011-01-01

    Facial asymmetry is not an uncommon occurrence in day to day dental practice. It can be caused by various etiologic factors ranging from facial trauma to serious hereditary conditions. Here, we report a rare case of non-syndromic facial asymmetry in a young female, who was born with this condition but was not aware of the progression of asymmetry. No relevant family history was recognized. She was also deficient in both deciduous and permanent teeth in the corresponding region of maxilla. Hence, the cause of this asymmetry was believed to be a segmental odontomaxillary hypoplasia of left maxilla accompanied by agenesis of left maxillary premolars and molars and disuse atrophy of corresponding facial musculature. This report briefly discussed the comparative features of segmental odontomaxillary hypoplasia, hemimaxillofacial dysplasia, and segmental odontomaxillary dysplasia and justified the differences between segmental odontomaxillary hypoplasia and the other two conditions.

  7. Bilateral hypoplasia of the internal carotid arteries with basilar aneurysm

    International Nuclear Information System (INIS)

    Briganti, F.; Tortora, F.; Elefante, A.; Maiuri, F.

    2004-01-01

    We report a rare case of bilateral hypoplasia of the internal carotid arteries with an associated aneurysm of the basilar tip, studied by CT angiography, MR angiography and digital angiography. The patient became symptomatic with an episode of loss of consciousness, likely due to reduced blood perfusion. The other 20 reported cases of bilateral carotid hypoplasia (only four of which with an associated aneurysm) are reviewed. The findings of noninvasive procedures (including narrowing of the carotid canals on CT) may lead to a correct diagnosis before angiography is performed; they may also help to differentiate angiographic narrowing of the hypoplastic internal carotids from the string sign often observed in some acquired conditions. (orig.)

  8. Bilateral hypoplasia of the internal carotid arteries with basilar aneurysm

    Energy Technology Data Exchange (ETDEWEB)

    Briganti, F.; Tortora, F.; Elefante, A. [Universita di Napoli Federico II, Dipartimento di Scienze Neurologiche, Cattedra di Neuroradiologia, 80131, Napoli (Italy); Maiuri, F. [Universita di Napoli Federico II, Department of Neurological Sciences, Neurosurgery Service, Napoli (Italy)

    2004-10-01

    We report a rare case of bilateral hypoplasia of the internal carotid arteries with an associated aneurysm of the basilar tip, studied by CT angiography, MR angiography and digital angiography. The patient became symptomatic with an episode of loss of consciousness, likely due to reduced blood perfusion. The other 20 reported cases of bilateral carotid hypoplasia (only four of which with an associated aneurysm) are reviewed. The findings of noninvasive procedures (including narrowing of the carotid canals on CT) may lead to a correct diagnosis before angiography is performed; they may also help to differentiate angiographic narrowing of the hypoplastic internal carotids from the string sign often observed in some acquired conditions. (orig.)

  9. Biliary atresia and cerebellar hypoplasia in polysplenia syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Vanderdood, Kurt; Op de Beeck, Bart; Desprechins, Brigitte; Osteaux, Michel [Department of Radiology, Free University Brussels, AZ-VUB, Laarbeeklaan 101, 1090 Brussels (Belgium)

    2003-09-01

    We report a 3.5-month-old boy with polysplenia syndrome who demonstrated hemiazygos continuation of the inferior vena cava, extrahepatic biliary atresia, multiple splenunculi, bowel malrotation, and the rare finding of brainstem and cerebellar hypoplasia. A possible pathogenesis for cerebellar hypoplasia in this syndrome is suggested after review of the literature. The importance of seeking associated anomalies in biliary atresia, which may be possible indicators of polysplenia syndrome, is stressed since these patients need appropriate management when surgery is considered. (orig.)

  10. Transcatheter aortic valve replacement

    Science.gov (United States)

    ... gov/ency/article/007684.htm Transcatheter aortic valve replacement To use the sharing features on this page, please enable JavaScript. Transcatheter aortic valve replacement (TAVR) is surgery to replace the aortic valve. ...

  11. Aortic Valve Regurgitation

    Science.gov (United States)

    ... correct direction. These valves include the mitral valve, tricuspid valve, pulmonary valve and aortic valve. Each valve has ... Causes of aortic valve regurgitation include: Congenital heart valve disease. You may have been born with an aortic ...

  12. Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)

    NARCIS (Netherlands)

    Barth, Peter G.; Ryan, Monique M.; Webster, Richard I.; Aronica, Eleonora; Kan, Alex; Ramkema, Marja; Jardine, Philip; Poll-The, Bwee Tien

    2008-01-01

    Pontocerebellar hypoplasia type 2, an autosomal recessive neurodegeneration with prenatal onset, is characterised by progressive microcephaly and chorea/dystonia and has not previously been associated with muscular involvement. The gene associated with PCH-2 is unknown. An episode of rhabdomyolysis

  13. Amelogenesis Imperfect, Enamel Hypoplasia and Fluorosis Dental - Literature Review

    Directory of Open Access Journals (Sweden)

    Flávia Magnani Bevilacqua

    2015-12-01

    Full Text Available The developmental disorders of enamel are abnormalities of structure which can affect both dentitions. These abnormalities include amelogenesis imperfecta, enamel hypoplasia and dental fluorosis. The amelogenesis imperfecta is a hereditary change and enamel hypoplasia is a quantitative defect of enamel that occurs as a result of systemic problems, local and also inherited factors, or even the combination of them. Dental fluorosis is a hypoplasia caused by the chronic ingestion of fluoride during odontogenesis. All these anomalies have similar clinical characteristics, and it is necessary to be careful in their assessment. It is extremely important to know these abnormalities to establish a differential diagnosis and, consequently, a treatment plan, which can be set for each situation. Therefore, the purpose of this study was to review the literature regarding these three anomalies: amelogenesis imperfecta, enamel hypoplasia and dental fluorosis. It was concluded that to establish the differential diagnosis of these abnormalities as well as a proper treatment plan, it is indispensable the professional knowledge associated with the clinical examination. The examination has to consist of medical history and physical examination, and in some cases, x-ray examination.

  14. Hypoplasia of the internal carotid artery with intercavernous anastomosis

    International Nuclear Information System (INIS)

    Chen, C.J.; Wang, L.J.; Wong, Y.C.; Chen, S.T.; Hsieh, F.Y.

    1998-01-01

    We report a symptomatic case of unilateral hypoplasia of the internal carotid artery with an intercavernous anastomosis, a very rare developmental anomaly. The symptoms were caused by occlusion of the proximal middle cerebral artery which possibly related to the haemodynamic stress caused by the anomalous intercavernous anastomosis. (orig.)

  15. Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum

    Directory of Open Access Journals (Sweden)

    S. Lühl

    2016-10-01

    Full Text Available Abstract Background Pontocerebellar hypoplasia type 6 (PCH6 is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein translation. A total of 27 patients from 14 families have been reported so far. Characteristic clinical features comprise neonatal lactic acidosis, severe encephalopathy, intractable seizures, feeding problems and profound developmental delay. Most patients show typical neuroradiologic abnormalities including cerebellar hypoplasia and progressive pontocerebellar atrophy. Methods We describe the clinical, biochemical and molecular features of 2 siblings with a novel homozygous mutation in RARS2. Both patients presented neonatally with lactic acidosis. While the older sibling had severe neurological symptoms with microcephaly, seizures and developmental delay, the younger patient was still neurologically asymptomatic at the age of 2 months. Results MRI studies in both children lacked pontocerebellar involvement. The expression of the OXPHOS complex proteins was decreased in both patients, whereas oxygen consumption was increased. Conclusions Characteristic neuroradiological abnormalities of PCH6 such as vermis and cerebellar hypoplasia and progressive pontocerebellar atrophy may be missing in patients with RARS2 mutations. RARS2 testing should therefore also be performed in patients without pontocerebellar hypoplasia but otherwise typical clinical symptoms.

  16. Aortic dilatation in patients with prosthetic aortic valve: comparison of MRI and echocardiography.

    Science.gov (United States)

    von Knobelsdorff-Brenkenhoff, Florian; Rudolph, André; Wassmuth, Ralf; Abdel-Aty, Hassan; Schulz-Menger, Jeanette

    2010-05-01

    Patients with prosthetic aortic valve have an increased risk for aortic dissection, which rises further with growing aortic diameters. Thus, accurate aortic monitoring is required. As transthoracic echocardiography (TTE), the current clinical standard, is frequently restricted to the proximal ascending aorta, the use of two-dimensional cardiovascular magnetic resonance (2D-CMR) in transverse orientation was investigated as a screening tool to assess ascending aortic dimensions. Fast, non-contrast-enhanced, non-breath-hold, steady-state free-precession (SSFP) sequences (1.5 Tesla, slice thickness 7 mm, gap 1.8 mm, scan time 10-15 s) were applied to image the thorax in transverse planes. To test the accuracy of aortic dimensions obtained in this way, comparison was made to contrast-enhanced three-dimensional MR angiography (3D-MRA) as the 'gold standard' in 30 patients with aortic or aortic valve disease. After validation, transverse 2D-CMR was used to assess ascending aortic dimensions in 65 patients with aortic bioprostheses, and the results were compared to those acquired with TTE. Data acquired with both 2D-CMR and 3D-MRA agreed well when assessing ascending aortic diameters (r = 0.99; p 2.1 cm/m2) was present in 38.5% of 2D-CMR cases and in 11.5% of TTE cases. The intra- and inter-observer variabilities to assess aortic dimensions by 2D-CMR were 2.1 +/- 1.9% and 4.3 +/- 3.7%, respectively. Imaging of the complete thorax in transverse orientation using fast, non-contrast-enhanced SSFP images provided an accurate and reliable approach to screen for aortic dilatation. In patients with aortic bioprostheses, 2D-CMR revealed a high prevalence of aortic dilatation, which was considerably underestimated by TTE.

  17. Hybrid treatment of penetrating aortic ulcer

    Energy Technology Data Exchange (ETDEWEB)

    Lara, Juan Antonio Herrero; Martins-Romeo, Daniela de Araujo; Escudero, Carlos Caparros; Falcon, Maria del Carmen Prieto; Batista, Vinicius Bianchi, E-mail: jaherrero5@hotmail.com [Unidade de Gestao Clinica (UGC) de Diagnostico por Imagem - Hosppital Universitario Virgen Macarena, Sevilha (Spain); Vazquez, Rosa Maria Lepe [Unit of Radiodiagnosis - Hospital Nuestra Senora de la Merced, Osuna, Sevilha (Spain)

    2015-05-15

    Penetrating atherosclerotic aortic ulcer is a rare entity with poor prognosis in the setting of acute aortic syndrome. In the literature, cases like the present one, located in the aortic arch, starting with chest pain and evolving with dysphonia, are even rarer. The present report emphasizes the role played by computed tomography in the diagnosis of penetrating atherosclerotic ulcer as well as in the differentiation of this condition from other acute aortic syndromes. Additionally, the authors describe a new therapeutic approach represented by a hybrid endovascular surgical procedure for treatment of the disease. (author)

  18. Hybrid treatment of penetrating aortic ulcer

    International Nuclear Information System (INIS)

    Lara, Juan Antonio Herrero; Martins-Romeo, Daniela de Araujo; Escudero, Carlos Caparros; Falcon, Maria del Carmen Prieto; Batista, Vinicius Bianchi; Vazquez, Rosa Maria Lepe

    2015-01-01

    Penetrating atherosclerotic aortic ulcer is a rare entity with poor prognosis in the setting of acute aortic syndrome. In the literature, cases like the present one, located in the aortic arch, starting with chest pain and evolving with dysphonia, are even rarer. The present report emphasizes the role played by computed tomography in the diagnosis of penetrating atherosclerotic ulcer as well as in the differentiation of this condition from other acute aortic syndromes. Additionally, the authors describe a new therapeutic approach represented by a hybrid endovascular surgical procedure for treatment of the disease. (author)

  19. Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma.

    Science.gov (United States)

    Ajibola, Ayodeji J; Netzloff, Michael; Samaraweera, Ranji; Omar, Said A

    2010-02-01

    We report the clinical characteristics and the outcome of two cases of pontocerebellar hypoplasia (PCH) in one family. The objective of this report is to describe the mode of presentation, discuss the clinical course, and address the dilemma of prenatal diagnosis and the prospects for genetic diagnosis for PCH. The first case is a 4-year-old boy in whom the diagnosis was made in the neonatal period. Despite extensive prenatal follow-up during the mother's subsequent pregnancy, prenatal diagnosis could not be made and a second affected child was born. Both siblings have severe developmental delay. The cases raise an important ethical dilemma about the most appropriate intervention if the mother of a child affected with PCH becomes pregnant. PCH is considered to have an autosomal-recessive mode of inheritance and a recurrence risk of 25% in each pregnancy. Until recently when genetic mutations in PCH types 2, 4, and 6 began to be identified, the lack of well-recognized genetic testing precluded experts from making clear recommendations. The best advice to these parents was difficult or elusive. With two children currently affected, should the parents terminate or continue with the latest pregnancy? Extensive monitoring with serial prenatal ultrasound failed in the previous pregnancy and resulted in the birth of the second affected child. It is evident that serial ultrasound scan may not be helpful in making the diagnosis prenatally. Therefore, other diagnostic modalities such as magnetic resonance imaging may be necessary and should be considered. With the identification of genetic basis or mutations in PCH types 2, 4, and 6 and possible development of commercial genetic testing for these types of PCH, reproductive decision or genetic testing during pregnancy should be recommended to affected families to enable informed choices. Thieme Medical Publishers.

  20. Aortic events in a nationwide Marfan syndrome cohort

    DEFF Research Database (Denmark)

    Groth, Kristian A; Krag, Kirstine Stochholm; Hove, Hanne

    2017-01-01

    BACKGROUND: Marfan syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan...... syndrome cohort. METHOD: The nationwide cohort of Danish Marfan syndrome patients was established from the Danish National Patient Registry and the Cause of Death Register, where we retrieved information about aortic surgery and dissections. We associated aortic events with age, sex, and Marfan syndrome...

  1. Fate of remnant sinuses of Valsalva in patients with bicuspid and trileaflet valves undergoing aortic valve, ascending aorta, and aortic arch replacement.

    Science.gov (United States)

    Milewski, Rita Karianna; Habertheuer, Andreas; Bavaria, Joseph E; Siki, Mary; Szeto, Wilson Y; Krause, Eric; Korutla, Varun; Desai, Nimesh D; Vallabhajosyula, Prashanth

    2017-08-01

    In patients presenting with aortic valvulopathy with concomitant ascending aortic aneurysm, surgical management of the sinus of Valsalva segment remains undefined, especially for moderately dilated aortic roots. In patients with this pathology undergoing aortic valve replacement with supracoronary ascending aorta replacement, we assessed the fate of the remnant preserved sinus of Valsalva segment stratified by aortic valve morphology and pathology. From 2002 to 2015, 428 patients underwent elective aortic valve replacement with supracoronary ascending aorta replacement. Patients were stratified on the basis of valvular morphology (bicuspid aortic valve [n = 254] and tricuspid aortic valve [n = 174]), valvular pathology (bicuspid aortic valve with aortic stenosis [n = 178], bicuspid aortic valve with aortic insufficiency [n = 76], tricuspid aortic valve with aortic stenosis [n = 61], tricuspid aortic valve with aortic insufficiency [n = 113]), and preoperative sinus of Valsalva dimensions (45 mm). Kaplan-Meier analysis revealed no significant difference in freedom from reoperation in tricuspid aortic valve versus bicuspid aortic valve (P = .576). Multivariable Cox regression model performed with sinus of Valsalva dimensions at baseline and follow-up as time-varying covariates did not adversely affect survival. A repeated-measure, mixed-effects model constructed to assess longitudinal sinus of Valsalva trends revealed that the retained sinus of Valsalva dimensions remain stable over long-term follow-up (discharge to ≥10 years), irrespective of valvular morphology/pathology (bicuspid aortic valve with aortic insufficiency, tricuspid aortic valve with aortic insufficiency, tricuspid aortic valve with aortic stenosis) and preoperative sinus of Valsalva groups (45 mm). In patients with nonaneurysmal sinuses of Valsalva undergoing aortic valve replacement with supracoronary ascending aorta replacement, the sinus segment can be preserved irrespective of

  2. Aortic valve bypass

    DEFF Research Database (Denmark)

    Lund, Jens T; Jensen, Maiken Brit; Arendrup, Henrik

    2013-01-01

    In aortic valve bypass (AVB) a valve-containing conduit is connecting the apex of the left ventricle to the descending aorta. Candidates are patients with symptomatic aortic valve stenosis rejected for conventional aortic valve replacement (AVR) or transcatheter aortic valve implantation (TAVI). ...

  3. Bicuspid Aortic Valve

    Science.gov (United States)

    2006-08-01

    with tricuspid aortic valves matched for age, gender and grade of valvular disease . These studies suggest that the predisposition for aortic...enlargement in healthy patients with normally functioning BAV when compared to healthy subjects with normally functioning tricuspid aortic valves ...ascending aorta but also in the pulmonary arteries of patients with BAV, compared to that of patients with tricuspid aortic valves . These studies

  4. Diagnosis, imaging and clinical management of aortic coarctation.

    Science.gov (United States)

    Dijkema, Elles J; Leiner, Tim; Grotenhuis, Heynric B

    2017-08-01

    Coarctation of the aorta (CoA ) is a well-known congenital heart disease (CHD) , which is often associated with several other cardiac and vascular anomalies, such as bicuspid aortic valve (BAV), ventricular septal defect, patent ductus arteriosus and aortic arch hypoplasia. Despite echocardiographic screening, prenatal diagnosis of C o A remains difficult. Most patients with CoA present in infancy with absent, delayed or reduced femoral pulses, a supine arm-leg blood pressure gradient (> 20 mm Hg), or a murmur due to rapid blood flow across the CoA or associated lesions (BAV). Transthoracic echocardiography is the primary imaging modality for suspected CoA. However, cardiac magnetic resonance imaging is the preferred advanced imaging modality for non-invasive diagnosis and follow-up of CoA. Adequate and timely diagnosis of CoA is crucial for good prognosis, as early treatment is associated with lower risks of long-term morbidity and mortality. Numerous surgical and transcatheter treatment strategies have been reported for CoA. Surgical resection is the treatment of choice in neonates, infants and young children. In older children (> 25 kg) and adults, transcatheter treatment is the treatment of choice. In the current era, patients with CoA continue to have a reduced life expectancy and an increased risk of cardiovascular sequelae later in life, despite adequate relief of the aortic stenosis. Intensive and adequate follow-up of the left ventricular function, valvular function, blood pressure and the anatomy of the heart and the aorta are , therefore, critical in the management of CoA. This review provides an overview of the current state-of-the-art clinical diagnosis, diagnostic imaging algori thms, treatment and follow-up of patients with CoA. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  5. Ischio-pubic-patellar hypoplasia: is it a new syndrome?

    International Nuclear Information System (INIS)

    Habboub, H.K.; Thneibat, W.A.

    1997-01-01

    Aplasia/hypoplasia of the patella has been described as an isolated finding or, more commonly, as a part of congenital syndromes. We describe here bilateral absence of the patella in an 11-year-old girl with absence of the ischial and inferior pubic rami bilaterally. Other associated skeletal and soft-tissue deformities are also reported. To our knowledge, the constellation of these findings has not been described previously and represents a unique syndrome. (orig.). With 1 fig

  6. Indirect veneer treatment of anterior maxillary teeth with enamel hypoplasia

    OpenAIRE

    Juniarti, Devi Eka

    2010-01-01

    Background: Nowadays, aesthetic rehabilitation becomes a necessity. It is affected by patient’s background, especially career, social and economic status. The aesthetic abnormality of anterior teeth i.e discoloration, malposition and malformation can affect patient’s appearance, especially during smile. These dental abnormalities, as a result, can decrease patient’s performance. Dental malformation, for instance, can be caused by developmental tooth defect, such as enamel hypoplasia. Enamel h...

  7. Combined Repair of Ascending Aortic Pseudoaneurysm and Abdominal Aortic Aneurysm in a Patient with Marfan Syndrome

    OpenAIRE

    Kokotsakis, John N.; Lioulias, Achilleas G.; Foroulis, Christophoros N.; Skouteli, Eleni Anna T.; Milonakis, Michael K.; Bastounis, Elias A.; Boulafendis, Dimitrios G.

    2003-01-01

    Pseudoaneurysms of the ascending aorta after the original inclusion/wrap technique of the Bentall procedure present a difficult surgical management problem and are associated with substantial morbidity and mortality. Patients with Marfan syndrome frequently develop aneurysms and dissections that involve multiple aortic segments. We present the case of a Marfan patient who successfully underwent repair of a giant ascending aortic pseudoaneurysm and concomitant repair of an abdominal aortic ane...

  8. Local repair of distal thoracal aortic dissections (Locus minoris resistencia).

    Science.gov (United States)

    Belov, Iu V; Komarov, R N; Stepanenko, A B; Gens, A P; Charchian, E R

    2007-01-01

    The paper presents the method of local repair of distal aortic dissections. Local aortic grafting for surgical correction of type B dissecting aortic aneurysms helped to decrease hospital mortality up to 15.4%, the rate of paraparesis and multiorgan failure - up to 11.5%.

  9. Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The presented materials consist of presentations of international workshop which held in Warsaw from 4 to 5 October 2007. Main subject of the meeting was progress in manufacturing as well as research program development for neutron detector which is planned to be placed at GANIL laboratory and will be used in nuclear spectroscopy research

  10. Isolated unilateral pulmonary artery hypoplasia with accompanying pulmonary parenchymal findings on CT: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Surin; Cha, Yoon Ki; Kim, Jeung Sook; Kwon, Jae Hyun; Jeong, Yun Jeong [Dongguk University Ilsan Hospital, Dongguk University College of Medicine, Goyang (Korea, Republic of); Kim, Seon Jeong [Dept. of Radiology, Myongji Hospital, Goyang (Korea, Republic of)

    2017-05-15

    Unilateral pulmonary artery hypoplasia or agenesis without congenital cardiovascular anomalies is rare in adults. We report a case of a 36-year-old man with isolated left unilateral pulmonary artery hypoplasia with recurrent hemoptysis. On computed tomography (CT), the left pulmonary artery showed hypoplasia with multiple collateral vessels seen in the mediastinum and the left hemithorax. Also, parenchymal bands and peripheral linear opacities were seen in the affected lung, which were probably due to chronic infarction induced by unilateral pulmonary artery hypoplasia. There are only a few reports focusing on the radiologic findings in the pulmonary parenchyma induced by unilateral pulmonary artery hypoplasia, such as parenchymal bands and peripheral linear opacities. Therefore we report this case, which focused on the CT findings in the pulmonary parenchyma due to isolated unilateral pulmonary artery hypoplasia.

  11. Application of mitomycin C after endoscopic lysis of congenital laryngeal web combined with epiglottic hypoplasia in a middle-aged man.

    Science.gov (United States)

    Roh, Jong-Lyel

    2006-04-01

    Laryngeal webs and epiglottic hypoplasias are uncommon congenital anomalies. Anterior glottic web combined with epiglottic hypoplasia was found in a middle-aged man presenting with hoarseness and dyspnea on exertion. This can be considered as a unique isolated defect of the larynx during early fetal development. The laryngeal web can be successfully treated in a single stage with endoscopic lysis and topical application of mitomycin C for prevention of anterior glottic restenosis. This case and prior reports suggest that the novel approach may be effective in the treatment of laryngeal webs.

  12. Mechanical surface analysis of bone: a case study of cut marks and enamel hypoplasia on a Neolithic cranium from Sweden.

    Science.gov (United States)

    During, E M; Nilsson, L

    1991-02-01

    A method for measuring, recording, and studying fine surface irregularities in three dimensions is presented. The method, which involves recording the movements of a diamond-tipped stylus as it scans the surface being studied, is demonstrated on a Neolithic cranium from Sweden. The cranium emanates from a pile dwelling dated to about 3000 B.C. Its frontal bone exhibits distinct cut marks indicative of scalping, and the teeth show signs of enamel hypoplasia. The surface topography of the putative cut marks and hypoplastic enamel were investigated using the stylus method. Measurements of enamel hypoplasia were also carried out for comparison on a front tooth from the lower jaw, and the cut mark study was compared with scanning electron micrographs. The results of this case study demonstrate that the stylus method can obtain high-resolution measurements of fine surface details directly on the original bone without preparation of or damage to the specimen.

  13. Aortic root asymmetry in marfan patients; evaluation by magnetic resonance imaging and comparison with standard echocardiography

    NARCIS (Netherlands)

    Meijboom, L. J.; Groenink, M.; van der Wall, E. E.; Romkes, H.; Stoker, J.; Mulder, B. J.

    2000-01-01

    BACKGROUND: Patients with Marfan syndrome may develop aortic root dissection despite only mild aortic root dilation as shown by standard echocardiography, which may be due to aortic root asymmetry. Purpose of the present study was to investigate aortic root asymmetry by magnetic resonance (MR)

  14. Potential risk factors in systemic hypoplasia and dental caries at odontogenesis stage

    Directory of Open Access Journals (Sweden)

    Kovach I.V.

    2013-03-01

    Full Text Available Lesion of hard dental tissue with caries process and lesions not connected with caries present overwhelming majority of dental diseases. Causes leading to damage of enamel integrity and dentin with progressing demineralization are known; they allow to choose justified method of primary prophylaxis. Along with it, etiology and pathogenesis of enamel lesions with demineralization signs remains unexplored. Epidemiologic study of prevalence, incidence and severity of lesion of hard dental tissues in 330 pupils, who constantly live on endemic iodine-defficient territory, of three zones – mountain zone, foothill and valley. For comparison, schoolchildren migrated to this territory 2-3 years after birth, and children – residents of favorable as for iodine level in drinking water were examined, 30 children in each group. It was established, that overwhelming number of schoolchildren of endemic zone suffer from endemic goiter of various severity, which sufficiently impacts on protein-mineral ratio of the organism, bone skeleton and teeth including. It was also established, that residents of three various levels of iodine consumption are prone to development of multiple dental caries and systemic enamel hypoplasia. Children, residents of mountain zone suffer the most, with simultaneous lesion of thyroid gland. The role of endemic goiter in systemic dental enamel hypoplasia and multiple caries, which changes protein matrix, negatively impacts on odontogenesis and mineralization degree is underlined.

  15. Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The PARIS meeting held in Cracow, Poland from 14 to 15 May 2007. The main subjects discussed during this meeting were the status of international project dedicated to gamma spectroscopy research. The scientific research program includes investigations of giant dipole resonance, probe of hot nuclei induced in heavy reactions, Jacobi shape transitions, isospin mixing and nuclear multifragmentation. The mentioned programme needs Rand D development such as new scintillations materials as lanthanum chlorides and bromides as well as new photo detection sensors as avalanche photodiodes - such subjects are also subjects of discussion. Additionally results of computerized simulations of scintillation detectors properties by means of GEANT- 4 code are presented

  16. Cardiac tamponade associated with delayed ascending aortic perforation after blunt chest trauma: a case report

    OpenAIRE

    Ryu, Dae Woong; Lee, Mi Kyung

    2017-01-01

    Background Cardiac tamponade due to aortic injury after blunt trauma is a rare and potentially fatal injury. Most aortic injuries caused by blunt trauma present as aortic dissection or rupture of the aortic isthmus. Several cases of delayed aortic injury have been reported. However, all of these injuries were observed in the descending aorta because they had been caused by a posterior rib fracture. Case presentation We report the first case of cardiac tamponade associated with delayed ascendi...

  17. Unilateral Glenoid Hypoplasia: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Ashish Suryawanshi

    2011-01-01

    Full Text Available Glenoid hypoplasia is a relatively rare alteration that in most cases involves the pectoral girdle in a bilateral and symmetrical manner. In general, glenoid hypoplasia is associated with skeletal changes such as hypoplasia of the humeral head or changes in the morphology of the acromion and of the coracoid. We describe a rare case of unilateral glenoid hypoplasia without instability and not involving humeral head. The patient was managed effectively with nonoperative measures that featured specific rehabilitation exercises for the shoulder.

  18. Genetic approaches to human renal agenesis/hypoplasia and dysplasia

    Science.gov (United States)

    Sanna-Cherchi, Simone; Caridi, Gianluca; Weng, Patricia L.; Scolari, Francesco; Perfumo, Francesco; Gharavi, Ali G.

    2007-01-01

    Congenital abnormalities of the kidney and urinary tract are frequently observed in children and represent a significant cause of morbidity and mortality. These conditions are phenotypically variable, often affecting several segments of the urinary tract simultaneously, making clinical classification and diagnosis difficult. Renal agenesis/hypoplasia and dysplasia account for a significant portion of these anomalies, and a genetic contribution to its cause is being increasingly recognized. Nevertheless, overlap between diseases and challenges in clinical diagnosis complicate studies attempting to discover new genes underlying this anomaly. Most of the insights in kidney development derive from studies in mouse models or from rare, syndromic forms of human developmental disorders of the kidney and urinary tract. The genes implicated have been shown to regulate the reciprocal induction between the ureteric bud and the metanephric mesenchyme. Strategies to find genes causing renal agenesis/hypoplasia and dysplasia vary depending on the characteristics of the study population available. The approaches range from candidate gene association or resequencing studies to traditional linkage studies, using outbred pedigrees or genetic isolates, to search for structural variation in the genome. Each of these strategies has advantages and pitfalls and some have led to significant discoveries in human disease. However, renal agenesis/hypoplasia and dysplasia still represents a challenge, both for the clinicians who attempt a precise diagnosis and for the geneticist who tries to unravel the genetic basis, and a better classification requires molecular definition to be retrospectively improved. The goal appears to be feasible with the large multicentric collaborative groups that share the same objectives and resources. PMID:17437132

  19. Total Endovascular Aortic Repair in a Patient with Marfan Syndrome.

    Science.gov (United States)

    Amako, Mau; Spear, Rafaëlle; Clough, Rachel E; Hertault, Adrien; Azzaoui, Richard; Martin-Gonzalez, Teresa; Sobocinski, Jonathan; Haulon, Stéphan

    2017-02-01

    The aim of this study is to describe a total endovascular aortic repair with branched and fenestrated endografts in a young patient with Marfan syndrome and a chronic aortic dissection. Open surgery is the gold standard to treat aortic dissections in patients with aortic disease and Marfan syndrome. In 2000, a 38-year-old man with Marfan syndrome underwent open ascending aorta repair for an acute type A aortic dissection. One year later, a redo sternotomy was performed for aortic valve replacement. In 2013, the patient presented with endocarditis and pulmonary infection, which necessitated tracheostomy and temporary dialysis. In 2014, the first stage of the endovascular repair was performed using an inner branched endograft to exclude a 77-mm distal arch and descending thoracic aortic aneurysm. In 2015, a 63-mm thoracoabdominal aortic aneurysm was excluded by implantation of a 4-fenestrated endograft. Follow-up after both endovascular repairs was uneventful. Total aortic endovascular repair was successfully performed to treat a patient with arch and thoraco-abdominal aortic aneurysm associated with chronic aortic dissection and Marfan syndrome. The postoperative images confirmed patency of the endograft and its branches, and complete exclusion of the aortic false lumen. Endovascular repair is a treatment option in patients with connective tissue disease who are not candidates for open surgery. Long-term follow-up is required to confirm these favorable early outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. TSEN54 mutations cause pontocerebellar hypoplasia type 5

    OpenAIRE

    Namavar, Yasmin; Chitayat, David; Barth, Peter G; van Ruissen, Fred; de Wissel, Marit B; Poll-The, Bwee Tien; Silver, Rachel; Baas, Frank

    2011-01-01

    Pontocerebellar hypoplasia (PCH) is a group of autosomal recessive neurodegenerative disorders characterized by prenatal onset of stunted brain growth and progressive atrophy predominantly affecting cerebellum, pons and olivary nuclei, and to a lesser extent also the cerebral cortex. Six subtypes (PCH1–6) were described and genes for four types (PCH1, 2, 4 and 6) were identified. Mutations in the tRNA splicing endonuclease subunit (TSEN) genes 54, 2 and 34 are found in PCH2 and PCH4. One fami...

  1. Presentation

    Directory of Open Access Journals (Sweden)

    Eduardo Vicente

    2013-06-01

    Full Text Available In the present edition of Significação – Scientific Journal for Audiovisual Culture and in the others to follow something new is brought: the presence of thematic dossiers which are to be organized by invited scholars. The appointed subject for the very first one of them was Radio and the invited scholar, Eduardo Vicente, professor at the Graduate Course in Audiovisual and at the Postgraduate Program in Audiovisual Media and Processes of the School of Communication and Arts of the University of São Paulo (ECA-USP. Entitled Radio Beyond Borders the dossier gathers six articles and the intention of reuniting works on the perspectives of usage of such media as much as on the new possibilities of aesthetical experimenting being build up for it, especially considering the new digital technologies and technological convergences. It also intends to present works with original theoretical approach and original reflections able to reset the way we look at what is today already a centennial media. Having broadened the meaning of “beyond borders”, four foreign authors were invited to join the dossier. This is the first time they are being published in this country and so, in all cases, the articles where either written or translated into Portuguese.The dossier begins with “Radio is dead…Long live to the sound”, which is the transcription of a thought provoking lecture given by Armand Balsebre (Autonomous University of Barcelona – one of the most influential authors in the world on the Radio study field. It addresses the challenges such media is to face so that it can become “a new sound media, in the context of a new soundscape or sound-sphere, for the new listeners”. Andrew Dubber (Birmingham City University regarding the challenges posed by a Digital Era argues for a theoretical approach in radio studies which can consider a Media Ecology. The author understands the form and discourse of radio as a negotiation of affordances and

  2. Sarcoidosis presenting with severe hypocalcaemia.

    LENUS (Irish Health Repository)

    Saeed, A

    2012-01-31

    Disorders of calcium metabolism, especially hypercalcemia and hypercalceuria, are common in sarcoidosis. They are caused by extra renal unsuppressed production of 1,25 dihydroxy vitamin D at the level of the sarcoid granuloma. Hormonal changes during pregnancy have a physiological synergistic effect on this mechanism, which is primarily parathyroid hormone (PTH) dependant. However, the combination of primary hypoparathyroidism with hypocalcemia and sarcoidosis is rare. Di George syndrome, is a dysmorphic disorder characterised by aplasia\\/hypoplasia of thymus and parathyroid glands in addition to aortic arch anamolies and facial dysmorphia. After commencing appropriate treatment this lady made excellent recovary.

  3. Isolated left-sided pulmonary artery agenesis with left lung hypoplasia: A report of two cases

    Directory of Open Access Journals (Sweden)

    V Govindaraj

    2017-01-01

    Full Text Available Unilateral absence of pulmonary artery or pulmonary artery agenesis (UAPA is a rare congenital malformation that can present as an isolated lesion or in association with other cardiac anomalies. Though congenital, presentation in adults are also reported. Most common presentation in adults is of exercise intolerance. The developing lung on the affected side is hypoplastic. Diagnosis of UAPA is established by imaging methods like CT and MRI . There is no specific treatment for this condition. Treatment depends on patients symptomatology, presence of pulmonary hypertension and collateral circulation. Presence of pulmonary hypertension carries a bad prognosis. We present two adult patients with isolated left sided unilateral pulmonary artery agenesis with ipsilateral lung hypoplasia. The diagnosis was confirmed by CT chest and perfusion scan.

  4. Abdominal Aortic Emergencies.

    Science.gov (United States)

    Lech, Christie; Swaminathan, Anand

    2017-11-01

    This article discusses abdominal aortic emergencies. There is a common thread of risk factors and causes of these diseases, including age, male gender, hypertension, dyslipidemia, and connective tissue disorders. The most common presenting symptom of these disorders is pain, usually in the chest, flank, abdomen, or back. Computed tomography scan is the gold standard for diagnosis of pathologic conditions of the aorta in the hemodynamically stable patient. Treatment consists of a combination of blood pressure and heart rate control and, in many cases, emergent surgical intervention. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Multimodality Imaging Approach towards Primary Aortic Sarcomas Arising after Endovascular Abdominal Aortic Aneurysm Repair: Case Series Report

    Energy Technology Data Exchange (ETDEWEB)

    Kamran, Mudassar, E-mail: kamranm@mir.wustl.edu; Fowler, Kathryn J., E-mail: fowlerk@mir.wustl.edu; Mellnick, Vincent M., E-mail: mellnickv@mir.wustl.edu [Washington University School of Medicine, Mallinckrodt Institute of Radiology (United States); Sicard, Gregorio A., E-mail: sicard@wudosis.wustl.edu [Washington University School of Medicine, Department of Surgery (United States); Narra, Vamsi R., E-mail: narrav@mir.wustl.edu [Washington University School of Medicine, Mallinckrodt Institute of Radiology (United States)

    2016-06-15

    Primary aortic neoplasms are rare. Aortic sarcoma arising after endovascular aneurysm repair (EVAR) is a scarce subset of primary aortic malignancies, reports of which are infrequent in the published literature. The diagnosis of aortic sarcoma is challenging due to its non-specific clinical presentation, and the prognosis is poor due to delayed diagnosis, rapid proliferation, and propensity for metastasis. Post-EVAR, aortic sarcomas may mimic other more common aortic processes on surveillance imaging. Radiologists are rarely knowledgeable about this rare entity for which multimodality imaging and awareness are invaluable in early diagnosis. A series of three pathologically confirmed cases are presented to display the multimodality imaging features and clinical presentations of aortic sarcoma arising after EVAR.

  6. Shape of the dilated aorta in children with bicuspid aortic valve

    International Nuclear Information System (INIS)

    Mart, Christopher R; McNerny, Bryn E

    2013-01-01

    The dilated aorta in adults with bicuspid aortic valve has been shown to have different shapes, but it is not known if this occurs in children. This observational study was performed to determine if there are different shapes of the dilated aorta in children with bicuspid aortic valve and their association with age, gender, hemodynamic alterations, and degree of aortic enlargement. One hundred and eighty-seven echocardiograms done on pediatric patients (0 – 18 years) for bicuspid aortic valve, during 2008, were reviewed. Aortic valve morphology, shape/size of the aorta, and pertinent hemodynamic alterations were documented. Aortic dilation was felt to be present when at least one aortic segment had a z-score > 2.0; global aortic enlargement was determined by summing the aortic segment z-scores. The aortic shape was assessed by age, gender, valve morphology, and hemodynamic alterations. Aortic dilation was present in 104/187 patients. The aorta had six different shapes designated from S1 through S6. There was no association between the aortic shape and gender, aortic valve morphology, or hemodynamic abnormalities. S3 was the most common after the age of six years and was associated with the most significant degree of global aortic enlargement. The shape of the dilated aorta in children with bicuspid aortic valve does not occur in a uniform manner and multiple shapes are seen. S2 and S3 are most commonly seen. As aortic dilation becomes more significant, a single shape (S3) becomes the dominant pattern

  7. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10

    NARCIS (Netherlands)

    Arts, W F M; Hofstee, Y; Drejer, G F; Beverstock, G C; Oosterwijk, J C

    A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and

  8. Transcatheter aortic valve implantation for a failed bio-bentall in patients with Marfan syndrome.

    Science.gov (United States)

    Beigel, Roy; Siegel, Robert J; Kahlon, Ravi S; Jilaihawi, Hasan; Cheng, Wen; Makkar, Raj R

    2014-01-01

    Patients with Marfan syndrome are at risk for ascending aortic dilation and dissection at the level of the aortic sinuses, making aortic root and valve replacement common. Patients undergoing an aortic root replacement with concomitant replacement of the aortic valve with a bioprosthesis (Bio-Bentall) are predisposed to bioprosthesis failure. Transcatheter aortic valve implantation (TAVI) has become an option for aortic valve replacement, avoiding cardiopulmonary bypass and/or median sternotomy. We present the first 2 reported patients with Marfan syndrome who underwent a valve-in-valve TAVI in the setting of a prior Bio-Bentall. © 2014 S. Karger AG, Basel.

  9. Selective cerebro-myocardial perfusion in complex congenital aortic arch pathology: a novel technique.

    Science.gov (United States)

    De Rita, Fabrizio; Lucchese, Gianluca; Barozzi, Luca; Menon, Tiziano; Faggian, Giuseppe; Mazzucco, Alessandro; Luciani, Giovanni Battista

    2011-11-01

    Simultaneous cerebro-myocardial perfusion has been described in neonatal and infant arch surgery, suggesting a reduction in cardiac morbidity. Here reported is a novel technique for selective cerebral perfusion combined with controlled and independent myocardial perfusion during surgery for complex or recurrent aortic arch lesions. From April 2008 to April 2011, 10 patients with arch pathology underwent surgery (two hypoplastic left heart syndrome [HLHS], four recurrent arch obstruction, two aortic arch hypoplasia + ventricular septal defect [VSD], one single ventricle + transposition of the great arteries + arch hypoplasia, one interrupted aortic arch type B + VSD). Median age was 63 days (6 days-36 years) and median weight 4.0 kg (1.6-52). Via midline sternotomy, an arterial cannula (6 or 8 Fr for infants) was directly inserted into the innominate artery or through a polytetrafluoroethylene (PTFE) graft (for neonates cerebro-myocardial perfusion was 39 ± 18 min (17-69). Weaning from cardiopulmonary bypass was achieved without inotropic support in three and with low dose in seven patients. One patient required veno-arterial extracorporeal membrane oxygenation. Four patients, body weight cerebro-myocardial perfusion is feasible in patients with complex or recurrent aortic arch disease, starting from premature newborn less than 2.0 kg of body weight to adults. The technique is as safe as previously reported methods of cerebro-myocardial perfusion and possibly more versatile. © 2011, Copyright the Authors. Artificial Organs © 2011, International Center for Artificial Organs and Transplantation and Wiley Periodicals, Inc.

  10. Indirect veneer treatment of anterior maxillary teeth with enamel hypoplasia

    Directory of Open Access Journals (Sweden)

    Devi Eka Juniarti

    2010-09-01

    Full Text Available Background: Nowadays, aesthetic rehabilitation becomes a necessity. It is affected by patient’s background, especially career, social and economic status. The aesthetic abnormality of anterior teeth i.e discoloration, malposition and malformation can affect patient’s appearance, especially during smile. These dental abnormalities, as a result, can decrease patient’s performance. Dental malformation, for instance, can be caused by developmental tooth defect, such as enamel hypoplasia. Enamel hypoplasia is a developmental defect caused by the lack of matrix amount which leads to thin and porous enamel. Enamel hypoplasia can also be caused by matrix calcification disturbance starting from the formation and development of enamel matrix causing defect and permanent changes which can occur on one or more tooth. Purpose: The aim of the study is to improve dental discoloration and tooth surface texture on anterior maxillary teeth with enamel hypoplasia by using indirect veneer with porcelain material. Case: A 20 years-old woman with enamel hypoplasia came to the Dental Hospital, Faculty of Dentistry Airlangga University. The patient wanted to improve her anterior maxillary teeth. It is clinically known that there were some opaque white spots (chalky spotted and porous on anterior teeth’s surface. Case management: Indirect veneer with porcelain material had been chosen as a restoration treatment which has excellent aesthetics and strength, and did not cause gingival irritation. As a result, the treatment could improve the confidence of the patient, and could also make their function normal. Conclusion: Indirect veneer is an effective treatment, which can improve patient’s appearance and self confidence.Latar belakang: Saat ini perbaikan estetik menjadi suatu kebutuhan. Kebutuhan akan estetik dipengaruhi latar belakang penderita, terutama karir, status sosial dan ekonomi. Hal ini disebabkan, kelainan estetik seperti diskolorasi, malposisi

  11. The future of aortic surgery in Europe

    DEFF Research Database (Denmark)

    Czerny, Martin; Bachet, Jean; Bavaria, Joseph

    2012-01-01

    the interested reader with an overview of how aortic surgery and (perhaps more accurately) aortic medicine has evolved in Europe, and its present standing; also to provide a glimpse into the future, trying to disseminate the thoughts of a group of people actively involved in the development of aortic medicine......At least every ten years, each specialty should reflect upon its past, its present and its future, in order to be able to reconfirm the direction in which it is headed, to adopt suggestions from inside and outside and, consequently, to improve. As such, the aim of this manuscript is to provide...

  12. Comparison of ascending aortic cohesion between patients with bicuspid aortic valve stenosis and regurgitation.

    Science.gov (United States)

    Benedik, Jaroslav; Dohle, Daniel S; Wendt, Daniel; Pilarczyk, Kevin; Price, Vivien; Mourad, Fanar; Zykina, Elizaveta; Stebner, Ferdinand; Tsagakis, Konstantinos; Jakob, Heinz

    2014-12-01

    A bicuspid aortic valve (BAV) is commonly associated with aortic wall abnormalities, including dilatation of the ascending aorta and increased potential for aortic dissection. We compared the mechanical properties of the aortic wall of BAV patients with aortic valve stenosis (AS) and regurgitation (AR) using a dissectometer, a device mimicking transverse aortic wall shear stress. Between March 2010 and February 2013, 85 consecutive patients with bicuspid aortic valve undergoing open aortic valve replacement at our institution were prospectively enrolled, presenting either with stenosis (Group 1, n = 58) or regurgitation (Group 2, n = 27). Aortic wall cohesion measured by the dissectometer (Parameters P7, P8 and P9), aortic diameters measured by transoesophageal echocardiography (TOE) and thickness of the wall were compared. One patient presenting with the Marfan syndrome was excluded from the study. Patients with aortic regurgitation were significantly younger (48.2 ± 15.8 vs 64.7 ± 10.7, P group (27.3 ± 3.6 vs 25.5 ± 2.4, P = 0.008; 41.1 ± 7.7 vs 36.7 ± 8.0, P = 0.011; 37.6 ± 9.7 vs 33.8 ± 9.1, P = 0.049). The ascending aortic diameter did not differ (43.2 ± 10.6 vs 40.3 ± 9.1, P = 0.292). Patients with AR had significantly worse aortic cohesion, as measured by shear stress testing (P7: 97.2 ± 45.0 vs 145.5 ± 84.9, P = 0.015; P8: 2.00 ± 0.65 vs 3.82 ± 1.56, P cohesion, a thicker aortic wall and a larger aortic root in patients presenting with bicuspid AR compared with patients with AS. These results suggest that bicuspid AR represents a different disease process with possible involvement of the ascending aorta, as demonstrated by dissectometer examination. © The Author 2014. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  13. X-linked adrenal hypoplasia congenita: a case report and ethical dilemma.

    Science.gov (United States)

    Ismail, Heba M; Rincon, Marielisa

    2014-07-01

    Our objective is to present the first case report of X-linked adrenal hypoplasia congenita in a child conceived by a donated egg and which also presented atypically, with initial mineralocorticoid deficiency. Case report with literature review. A late preterm fraternal twin male, conceived by in vitro fertilization of donated eggs, presented shortly after birth with feeding intolerance, hyponatremia, and hyperkalemia. Testing revealed a low aldosterone level, high plasma renin activity, normal cortisol level, and normal 17-hydroxyprogesterone level. He was diagnosed with 18-hydroxylase deficiency based on low 18-hydroxycorticosterone levels and was treated with mineralocorticoid successfully for 17 months. At age 18 months, he presented with dehydration secondary to herpetic gingivostomatitis and was found to be hypoglycemic, hyponatremic, hyperkalemic, and acidotic, with a low serum cortisol level. An adrenocorticotropic hormone (ACTH) stimulation test revealed low levels of all adrenal cortex products, with an elevated ACTH level. He was started on glucocorticoids. Genetic testing confirmed X-linked adrenal hypoplasia congenita (AHC). His asymptomatic fraternal twin underwent genetic testing and the results were negative. The fertility center records indicated that the mother had donated eggs to other families, but none of the children were known to have this disorder. The egg donor was informed but did not pursue genetic testing. We report a case of X-linked AHC presenting in the context of extraordinary ethical considerations. Our case raises a question unique to the era of assisted reproduction: should routine genetic screening of gamete donors be done for rare but potentially life-threatening conditions?

  14. Aortic valve ochronosis: a rare manifestation of alkaptonuria

    Science.gov (United States)

    Steger, Christina Maria

    2011-01-01

    Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen and other tissues, including the heart and aorta. A 65-year-old woman with alkaptonuric ochronosis and a history of four joint replacements required aortic valve replacement for severe aortic stenosis. Operative findings included ochronosis of a partly calcified aortic valve and the aortic intima. The aortic valve was removed at surgery and histologically investigated. Light microscopic examination of the aortic valve revealed intracellular and extracellular deposits of ochronotic pigment and a chronic inflammatory infiltrate. Beside the case representation, the disease history, aetiology, pathogenesis, clinical presentation and treatment of aortic valve ochronosis are reviewed. PMID:22689837

  15. Aortic aneurysm secondary to umbilical artery catheterization

    Energy Technology Data Exchange (ETDEWEB)

    Brill, P.W.; Winchester, P.; Griffith, A.Y.; Kazam, E.; Zirinsky, K.; Levin, A.R.

    1985-02-01

    A 14-month-girl presented with an asymptomatic posterior mediastinal mass. She had a history of prematurity, umbilical artery catheterization, and sepsis. The diagnosis of aortic aneurysm was made by dynamic computed tomography. The aneurysm was successfully resected.

  16. Bilateral bony fusion around the supraspinatus muscle inducing muscle hypoplasia and shoulder pain.

    Science.gov (United States)

    Son, YeNa; Ryu, Kyung Nam; Jin, Wook; Park, Ji Seon; Park, So Young

    2017-03-01

    We describe the case of a 30-year-old man who developed chronic bilateral shoulder pain that relapsed and remitted over the course of 1 year. The patient was diagnosed with congenital shoulder fusion anomalies. The right shoulder showed anomalous accessory articulation between the distal third of the clavicle and the acromion along with normal articulation of the shoulder on CT. At the left shoulder, bony fusions were present between the distal portion of the clavicle, the acromion, and the coracoid process, and between the coracoid process, upper portion of the glenoid, and upper body of the scapula, which formed a bony canal and was responsible for hypoplasia of the supraspinatus muscle on CT and MRI. To our knowledge, this is the first description of such congenital shoulder anomalies with extreme bony fusion and is an illustrative example of how imaging may be used to differentiate fusion from other congenital abnormalities of the shoulder to aid diagnosis.

  17. Bilateral bony fusion around the supraspinatus muscle inducing muscle hypoplasia and shoulder pain

    Energy Technology Data Exchange (ETDEWEB)

    Son, YeNa; Jin, Wook; Park, So Young [Kyung Hee University Hospital at Gangdong, Department of Radiology, 892, Dongnam-ro, Gangdong-gu, Seoul (Korea, Republic of); Ryu, Kyung Nam; Park, Ji Seon [Kyung Hee University Hospital, Department of Radiology, 23 Kyunghee-daero, Dongdaemun-gu, Seoul (Korea, Republic of)

    2017-03-15

    We describe the case of a 30-year-old man who developed chronic bilateral shoulder pain that relapsed and remitted over the course of 1 year. The patient was diagnosed with congenital shoulder fusion anomalies. The right shoulder showed anomalous accessory articulation between the distal third of the clavicle and the acromion along with normal articulation of the shoulder on CT. At the left shoulder, bony fusions were present between the distal portion of the clavicle, the acromion, and the coracoid process, and between the coracoid process, upper portion of the glenoid, and upper body of the scapula, which formed a bony canal and was responsible for hypoplasia of the supraspinatus muscle on CT and MRI. To our knowledge, this is the first description of such congenital shoulder anomalies with extreme bony fusion and is an illustrative example of how imaging may be used to differentiate fusion from other congenital abnormalities of the shoulder to aid diagnosis. (orig.)

  18. Management of Zinner’s Syndrome Associated with Contralateral Seminal Vesicle Hypoplasia: A Case Report

    Directory of Open Access Journals (Sweden)

    Mehdi Kardoust Parizi

    2013-01-01

    Full Text Available A 27-year-old man presented with chronic hematospermia, painful ejaculation, and primary infertility. Physical examination, transrectal ultrasonography, and pelvic magnetic resonance imaging (MRI demonstrated left seminal vesicle cyst, left renal agenesia, and contralateral seminal vesicle hypoplasia. Hormone workup (LH, FSH, prolactin, and testosterone was normal. Sperm analysis showed oligoasthenozoospermia and low ejaculate volume. We performed transurethral resection of the ejaculatory duct (TUR-ED using methylene blue vasography guidance without surgical-related complications. Hematospermia and painful ejaculation completely improved at 2-month followup, and the patient’s wife experienced a missed abortion thereafter. This patient was considered as a rare variant of Zinner’s syndrome and was managed effectively with a less invasive treatment modality (TUR-ED.

  19. Ascending aortic injuries following blunt trauma.

    Science.gov (United States)

    Sun, Xiumei; Hong, Jenny; Lowery, Robert; Goldstein, Steven; Wang, Zuyue; Lindsay, Joseph; Hill, Peter C; Corso, Paul J

    2013-11-01

    The diagnosis and the management of traumatic thoracic aortic injuries have undergone significant changes due to new technology and improved prehospital care. Most of the discussions have focused on descending aortic injuries. In this review, we discuss the recent management of ascending aortic injuries. We found 5 cohort studies on traumatic aortic injuries and 11 case reports describing ascending aortic injuries between 1998 to the present through Medline research. Among case reports, 78.9% of cases were caused by motor vehicle accidents (MVA). 42.1% of patients underwent emergent open repair and the operative mortality was 12.5%. 36.8% underwent delayed repair. Associated injuries occurred in 84.2% of patients. Aortic valve injury was concurrent in 26.3% of patients. The incidence of ascending aortic injury ranged 1.9-20% in cohort studies. Traumatic injuries to the ascending aorta are relatively uncommon among survivors following blunt trauma. Aortography has been replaced by computed tomography and echocardiography as a diagnostic tool. Open repair, either emergent or delayed, remains the treatment of choice. © 2013 Wiley Periodicals, Inc.

  20. The bicuspid aortic valve and related disorders

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Bicuspid aortic valve (BAV is the most common congenital cardiac malformation, affecting 1-2% of the population, with strong male predominance. Individuals may have a normally functioning BAV, and may be unaware of its presence and the potential risk of complications. However, they may easily develop aortic valve disorders: either stenotic or regurgitant, or both. Today, BAV is recognized as a syndrome incorporating aortic valve disorders and aortic wall abnormalities, including aortic dilation, dissection or rupture. Congenital or hereditary diseases such as ventricular septal defect, patent ductus arteriosus, coarctation of the aorta, Turner's syndrome, Marfan's syndrome etc., may frequently be associated with BAV. Infective endocarditis and occasionally thrombus formation may develop during the lives of BAV patients. Elevated cholesterol or C-reactive protein may be seen in laboratory findings of these patients. Beta-blockers and statins are the possibilities for medical treatment, and aortic valve repair/replacement and ascending aorta replacement are indicated for patients with a severely diseased aortic valve and aorta. Rigorous follow-up throughout life is mandatory after BAV has been diagnosed. The aim of the present article was to describe the implications of BAV and its associated disorders, and to discuss diagnostic and treatment strategies.

  1. Association of refractive error with optic nerve hypoplasia.

    Science.gov (United States)

    Pang, Yi; Frantz, Kelly A; Roberts, Daniel K

    2015-09-01

    To evaluate the association of refractive error with optic nerve hypoplasia (ONH). A total of 30 ONH subjects were recruited and underwent comprehensive eye exams. Refractive error data from this group was compared to data from a group of 3232 non-ONH subjects from the same facility. Spherical equivalent was calculated to assess refractive error. Multiple logistic regression was used to evaluate the relationship between ONH and refractive error while controlling for age, race, and gender. The prevalence of hyperopia (≥+1.00 D), myopia (refractive errors, particularly hyperopia. Anisometropia tended to be more likely to occur in subjects with unilateral ONH than in bilateral ONH. Based on our findings, we recommend that clinicians perform a comprehensive eye examination on all patients with ONH and prescribe for existing refractive error when visual acuity or general visual function can realistically be improved. © 2015 The Authors Ophthalmic & Physiological Optics © 2015 The College of Optometrists.

  2. Dentofacial hypoplasia due to radiotherapy for rhabdomyosarcoma in a child

    Energy Technology Data Exchange (ETDEWEB)

    Ohishi, Shin-ichiro; Kusukawa, Jingo; Nagao, Yumiko; Esaki, Kazuhisa; Kameyama, Tadamitsu; Eguchi, Haruhiko [Kurume Univ., Fukuoka (Japan). School of Medicine

    1997-12-01

    A case of secondary dentofacial deformity due to late effects of irradiation for childhood cancer originating in the oral cavity is reported. A 15-year-old girl was referred to the Department of Oral and Maxillofacial Surgery, Kurume University Hospital, because of masticatory dysfunction. The patient had received chemotherapy and irradiation because of rhabdomyosarcoma of the soft palate at 3 years of age. A total radiation dose of 4,000 cGy with {sup 60}Co had been delivered to the oral and maxillofacial region, including the maxilla and mandible. Bilateral micrognathia and hypoplasia of the permanent teeth in the irradiated field were observed. We emphasize the importance of oral care during treatment and follow-up of patients with childhood cancer to improve quality of life. (author)

  3. Acute aortic syndromes: current status.

    Science.gov (United States)

    Ridge, Carole A; Litmanovich, Diana E

    2015-05-01

    The term acute aortic syndrome comprises aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer. The most recent developments in acute aortic syndromes include (1) a change in the mindset that each entity is pathologically distinct, with a shift toward considering the acute aortic syndromes as points along a spectrum of aortic disease, (2) the optimization of aortic imaging quality and radiation dose, and (3) surgical or endovascular management. This review article focuses on how these developments pertain to thoracic radiologists.

  4. Abnormalities of aortic arch shape, central aortic flow dynamics, and distensibility predispose to hypertension after successful repair of aortic coarctation.

    Science.gov (United States)

    Donazzan, Luca; Crepaz, Robert; Stuefer, Josef; Stellin, Giovanni

    2014-10-01

    Systemic hypertension (HT) is a major long-term complication even after successful repair of aortic coarctation (CoA), and many factors are involved in this pathophysiology. To investigate the role of abnormalities in the aortic arch shape, central aortic flow dynamics, and distensibility in developing HT after successful repair of CoA. We selected a group of 26 normotensive patients (mean age 16.9±7.3 years, range 9-32 years) with anatomically successful repair of CoA among 140 patients regularly followed after repair of CoA and analyzed their last clinical and echocardiographic data. Bicycle exercise test and ambulatory blood pressure monitoring (ABPM) were also obtained. Mean age at surgical repair was 3.2±3.9 years (range 10 days-15 years); 12 patients underwent surgical correction during the first year of life. Repair of CoA was performed by end-to-end anastomosis (TT) in 23 patients (extended TT in 6 patients with arch hypoplasia), patch aortoplasty in 2, and subcalvian flap aortoplasty in 1. The postsurgical follow-up was 13.8±7.2 years (range 3.5-29.4 years). The shape of the aortic arch was defined by magnetic resonance imaging (MRI) on this global geometry (normal-gothic-crenel), ratio of the height-transverse diameter (A/T), percentage of residual stenosis, and growth index of the transverse arch segments. Flow mapping by phase-contrast imaging in the ascending and descending aorta was performed in order to measure the systolic waveforms and central aortic distensibility. Twenty normal age-matched patients submitted to the same MRI protocol were used as controls. Six patients were found to have a gothic and 20 a normal aortic arch shape. Patients with gothic aortic arch shape had an increased A/T ratio (0.80±0.07 vs 0.58±0.05, P135 mm Hg on ABPM were higher in the gothic than in the normal arch group. There was a correlation between nocturnal SBP, 24 hours pulse pressure on ABPM in the whole group, and different MRI variables (A/T, distensibility of

  5. Primary metastasizing aortic endothelioma.

    Science.gov (United States)

    Schmid, E; Port, S J; Carroll, R M; Friedman, N B

    1984-10-01

    An instance of malignant endothelioma, primary in the aorta, metastasizing to intestine and bone, is reported. The aortic tumor was successfully resected. The unexpected finding of a large hepatic growth at autopsy raised the possibility that the aortic neoplasm was a metastasis. Histochemical, immunologic, and ultrastructural studies supported the diagnosis of an endothelial neoplasm. Although a number of malignant aortic and large vessel tumors have been reported, only four previous instances appear to be endotheliomatous.

  6. Aortic valve replacement

    DEFF Research Database (Denmark)

    Kapetanakis, Emmanouil I; Athanasiou, Thanos; Mestres, Carlos A

    2008-01-01

    BACKGROUND AND AIMS OF THE STUDY: Prompted by anecdotal evidence and observations by surgeons, an investigation was undertaken into the potential differences in implanted aortic valve prosthesis sizes, during aortic valve replacement (AVR) procedures, between northern and southern European...... assigned to the 'small' aortic size subset. Effective orifice area indices were calculated for all patients to assess the geographic distribution of patient-prosthesis mismatch. Univariable and multivariable logistic regression analyses adjusting for possible confounding variables were performed. RESULTS...

  7. Polarized light and scanning electron microscopic investigation of enamel hypoplasia in primary teeth.

    Science.gov (United States)

    Sabel, Nina; Klingberg, Gunilla; Dietz, Wolfram; Nietzsche, Sandor; Norén, Jörgen G

    2010-01-01

    Enamel hypoplasia is a developmental disturbance during enamel formation, defined as a macroscopic defect in the enamel, with a reduction of the enamel thickness with rounded, smooth borders. Information on the microstructural level is still limited, therefore further studies are of importance to better understand the mechanisms behind enamel hypoplasia. To study enamel hypoplasia in primary teeth by means of polarized light microscopy and scanning electron microscopy. Nineteen primary teeth with enamel hypoplasia were examined in a polarized light microscope and in a scanning electron microscope. The cervical and incisal borders of the enamel hypoplasia had a rounded appearance, as the prisms in the rounded cervical area of the hypoplasia were bent. The rounded borders had a normal surface structure whereas the base of the defects appeared rough and porous. Morphological findings in this study indicate that the aetiological factor has a short duration and affects only certain ameloblasts. The bottom of the enamel hypoplasia is porous and constitutes possible pathways for bacteria into the dentin.

  8. Radiological features of Goltz syndrome: Focal dermal hypoplasia. A report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Boothyrod, A.E.; Hall, C.M.

    1988-10-01

    Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated for severe feeding problems and failure to thrive. Both demonstrated severe skeletal malformations and marked gastrooesophageal reflux with laxity of the hiatus. One child (case 1) exhibited nasal regurgitation during feeding. Interestingly, both children had undergone surgery; Case 1 or a right parasagittal abdominal hernia associated with focal dermal hypoplasia of the abdominal wall and Case 2 for an exomphalos also associated with dermal hypoplasia. This observation suggests more widespread mesodermal abnormality. (orig./GDG).

  9. Pulmonary Hypoplasia Caused by Fetal Ascites in Congenital Cytomegalovirus Infection Despite Fetal Therapy

    Directory of Open Access Journals (Sweden)

    Kazumichi Fujioka

    2017-11-01

    Full Text Available We report two cases of pulmonary hypoplasia due to fetal ascites in symptomatic congenital cytomegalovirus (CMV infections despite fetal therapy. The patients died soon after birth. The pathogenesis of pulmonary hypoplasia in our cases might be thoracic compression due to massive fetal ascites as a result of liver insufficiency. Despite aggressive fetal treatment, including multiple immunoglobulin administration, which was supposed to diminish the pathogenic effects of CMV either by neutralization or immunomodulatory effects, the fetal ascites was uncontrollable. To prevent development of pulmonary hypoplasia in symptomatic congenital CMV infections, further fetal intervention to reduce ascites should be considered.

  10. Ruptured Abdominal Aortic Aneurysm

    Directory of Open Access Journals (Sweden)

    Jessica Andrusaitis

    2017-07-01

    Full Text Available History of present illness: A 69-year-old male with poorly controlled hypertension presented with 1 hour of severe low back pain that radiated to his abdomen. The patient was tachycardic and had an initial blood pressure of 70/40. He had a rigid and severely tender abdomen. The patient’s history of hypertension, abnormal vital signs, severity and location of his pain were suspicious for a ruptured abdominal aortic aneurysm (AAA. Therefore, a computed tomography angiogram (CTA was ordered. Significant findings: CTA demonstrated a ruptured 7.4 cm infrarenal abdominal aortic aneurysm with a large left retroperitoneal hematoma. Discussion: True abdominal aortic aneurysm is defined as at least a 3cm dilatation of all three layers of the arterial wall of the abdominal aorta.1 An estimated 15,000 people die per year in the US of this condition.2 Risk factors for AAA include males older than 65, tobacco use, and hypertension.1,3,4 There are also congenital, mechanical, traumatic, inflammatory, and infectious causes of AAA.3 Rupture is often the first manifestation of the disease. The classic triad of abdominal pain, pulsatile mass, and hypotension is seen in only 50% of ruptured AAAs.5 Pain (abdominal, groin, or back is the most common symptom. The most common misdiagnoses of ruptured AAAs are renal colic, diverticulitis, and gastrointestinal hemorrhage.6 Bedside ultrasonography is the fastest way to detect this condition and is nearly 100% sensitive.1 One study showed that bedside ultrasounds performed by emergency physicians had a sensitivity of .94 [95% CI = .86-1.0] and specificity of 1 [95% CI = .98-1.0] for detecting AAAs.7 CTA has excellent sensitivity (approximately 100% and yields the added benefit of facilitating surgical planning and management.1 Without surgical treatment, a ruptured AAA is almost uniformly fatal, and 50% of those who undergo surgery do not survive.1 Early resuscitation and coordination with vascular surgery should be

  11. Circulating matrix metalloproteinase patterns in association with aortic dilatation in bicuspid aortic valve patients with isolated severe aortic stenosis.

    Science.gov (United States)

    Wang, Yongshi; Wu, Boting; Dong, Lili; Wang, Chunsheng; Wang, Xiaolin; Shu, Xianhong

    2016-02-01

    Bicuspid aortic valve (BAV) exhibits a clinical incline toward aortopathy, in which aberrant tensile and shear stress generated by BAV can induce differential expression of matrix metalloproteinases (MMPs) and their endogenous tissue inhibitors (TIMPs). Whether stenotic BAV, which exhibits additional eccentric high-velocity flow jet upon ascending aorta and further worsens circumferential systolic wall shear stress than BAV with echocardiographically normal aortic valve, can lead to unique plasma MMP/TIMP patterns is still unknown. According to their valvulopathy and aortic dilatation status, 93 BAV patients were included in the present study. Group A (n = 37) and B (n = 28) comprised severely stenotic patients with or without ascending aorta dilatation; Group C (n = 12) and D (n = 16) comprised echocardiographically normal BAV patients with or without ascending aorta dilatation. Plasma MMP/TIMP levels (MMP-1, -2, -3, -8, -9, -10, -13 and TIMP-1, -2, -4) were determined via a multiplex ELISA detection system in a single procedure. Among patients with isolated severe aortic stenosis, plasma levels of MMP-2 and -9 were significantly elevated when ascending aortic dilatation was present (p = 0.001 and p = 0.002, respectively). MMP-2, however, remained as the single elevated plasma component among echocardiographically normal BAV patients with dilated ascending aorta (p = 0.027). Multivariate analysis revealed that MMP-2 and MMP-9 could both serve as independent risk factor for aortic dilatation in the case of isolated severe stenosis (p = 0.003 and p = 0.001, respectively), and MMP-2 in echocardiographically normal patients (p = 0.002). In conclusion, BAV patients with isolated severe aortic stenosis demonstrated a distinct plasma MMP/TIMP pattern, which might be utilized as circulating biomarkers for early detection of aortic dilatation.

  12. Combined Repair of Ascending Aortic Pseudoaneurysm and Abdominal Aortic Aneurysm in a Patient with Marfan Syndrome

    Science.gov (United States)

    Kokotsakis, John N.; Lioulias, Achilleas G.; Foroulis, Christophoros N.; Skouteli, Eleni Anna T.; Milonakis, Michael K.; Bastounis, Elias A.; Boulafendis, Dimitrios G.

    2003-01-01

    Pseudoaneurysms of the ascending aorta after the original inclusion/wrap technique of the Bentall procedure present a difficult surgical management problem and are associated with substantial morbidity and mortality. Patients with Marfan syndrome frequently develop aneurysms and dissections that involve multiple aortic segments. We present the case of a Marfan patient who successfully underwent repair of a giant ascending aortic pseudoaneurysm and concomitant repair of an abdominal aortic aneurysm. An aggressive surgical strategy followed by life-long cardiovascular monitoring is warranted in order to prolong the survival of these patients. (Tex Heart Inst J 2003;30:233–5) PMID:12959210

  13. Combined repair of ascending aortic pseudoaneurysm and abdominal aortic aneurysm: in a patient with Marfan syndrome.

    Science.gov (United States)

    Kokotsakis, John N; Lioulias, Achilleas G; Foroulis, Christophoros N; Skouteli, Eleni Anna T; Milonakis, Michael K; Bastounis, Elias A; Boulafendis, Dimitrios G

    2003-01-01

    Pseudoaneurysms of the ascending aorta after the original inclusion/wrap technique of the Bentall procedure present a difficult surgical management problem and are associated with substantial morbidity and mortality. Patients with Marfan syndrome frequently develop aneurysms and dissections that involve multiple aortic segments. We present the case of a Marfan patient who successfully underwent repair of a giant ascending aortic pseudoaneurysm and concomitant repair of an abdominal aortic aneurysm. An aggressive surgical strategy followed by life-long cardiovascular monitoring is warranted in order to prolong the survival of these patients.

  14. Telomere Biology and Thoracic Aortic Aneurysm

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    Thomas Aschacher

    2017-12-01

    Full Text Available Ascending aortic aneurysms are mostly asymptomatic and present a great risk of aortic dissection or perforation. Consequently, ascending aortic aneurysms are a source of lethality with increased age. Biological aging results in progressive attrition of telomeres, which are the repetitive DNA sequences at the end of chromosomes. These telomeres play an important role in protection of genomic DNA from end-to-end fusions. Telomere maintenance and telomere attrition-associated senescence of endothelial and smooth muscle cells have been indicated to be part of the pathogenesis of degenerative vascular diseases. This systematic review provides an overview of telomeres, telomere-associated proteins and telomerase to the formation and progression of aneurysms of the thoracic ascending aorta. A better understanding of telomere regulation in the vascular pathology might provide new therapeutic approaches. Measurements of telomere length and telomerase activity could be potential prognostic biomarkers for increased risk of death in elderly patients suffering from an aortic aneurysm.

  15. Asendan Desendan Aortic Bypass: Atan Kalpte Mediyan Sternotomi Yoluyla Onarim

    Directory of Open Access Journals (Sweden)

    Muhammet Akyuz

    2013-10-01

    Full Text Available We report the case of a 9-month-old patient presenting for redo aortic arch surgery because of recoarctation. In present case, ascending-to-descending aortic bypass via median sternotomy was performed without cardiopulmonary bypass with good result. In spite of the fact that the different surgical and intervention treatment options of aortic coarctation are quite satisfactory, a certain group of patients need reoperation because of recoarctation. The recoarctation repair of the aorta with the extra-anatomic aortic bypass is considered a low-risk procedure with high success rate.

  16. Aortic valve surgery - open

    Science.gov (United States)

    ... while you are connected to this machine. This machine does the work of your heart while your heart is stopped. If your aortic valve is too damaged, you will need a new valve. This is called replacement surgery. Your surgeon will remove your aortic valve ...

  17. Imaging in aortic dissection

    International Nuclear Information System (INIS)

    Yu-Qing Liu, M.D.

    1995-01-01

    Aortic dissection (AD) is a catastrophic aortic disease. Imaging techniques play an invaluable role in the diagnostic evaluation and management of patients with AD. Major signs of AD with different imaging modalities are described in this article with a pertinent discussion on guidelines for the optimized approach of imaging study (13 refs.)

  18. Aortic arch malformations

    International Nuclear Information System (INIS)

    Kellenberger, Christian J.

    2010-01-01

    Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

  19. [Traumatic aortic valve insufficiency].

    Science.gov (United States)

    Nascimento, J; Lemos, C; Marques, A M; Antunes, M J; Gonsalves, A

    1996-02-01

    The traumatic aortic valvular insufficiency (TAVI), through less frequent after a non-penetrating thoracic traumatism, is a serious entity with a very reserved prognosis. So it must be suspected in every patients with signs or symptoms of de novo heart failure post-traumatism. The transthoracic echocardiography and eventually transesophageal echocardiography have a fundamental role in the confirmation of the diagnosis. The clinical picture of traumatic aortic regurgitation is quickly evolutionary and the non efficacy of medical therapy has placed the valvular substitution surgery as the best succeeded treatment. With the advent of the aortic valve repairing surgery some TAVI cases has been submitted to this procedure. Nevertheless, the development of residual aortic regurgitation in these situations, usually requiring later valvular replacement surgery, make the aortic valvuloplasty a controversial surgical technique. The AA describe a recent clinical case of aortic regurgitation after a non-penetrant thoracic traumatism, discussing the aspects connected with physiopathology, diagnosis and therapy. The singularity of this case was based on the fact that the initial clinical diagnosis had been prejudiced by the context of a polytraumatism and there had been a time free of symptoms between the traumatism and the beginning of the symptomatology of left ventricular failure. Even though the identification of the problem allowed an intensive treatment of this serious situation that ended with the replacement of the aortic valve by mechanical aortic prosthesis, with the patient's total recovery.

  20. Aortic events in a nationwide Marfan syndrome cohort.

    Science.gov (United States)

    Groth, Kristian A; Stochholm, Kirstine; Hove, Hanne; Kyhl, Kasper; Gregersen, Pernille A; Vejlstrup, Niels; Østergaard, John R; Gravholt, Claus H; Andersen, Niels H

    2017-02-01

    Marfan syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan syndrome cohort. The nationwide cohort of Danish Marfan syndrome patients was established from the Danish National Patient Registry and the Cause of Death Register, where we retrieved information about aortic surgery and dissections. We associated aortic events with age, sex, and Marfan syndrome diagnosis prior or after the first aortic event. From the total cohort of 412 patients, 150 (36.4 %) had an aortic event. Fifty percent were event free at age 49.6. Eighty patients (53.3 %) had prophylactic surgery and seventy patients (46.7 %) a dissection. The yearly event rate was 0.02 events/year/patient in the period 1994-2014. Male patients had a significant higher risk of an aortic event at a younger age with a hazard ratio of 1.75 (CI 1.26-2.42, p = 0.001) compared with women. Fifty-three patients (12.9 %) were diagnosed with MFS after their first aortic event which primarily was aortic dissection [n = 44 (83.0 %)]. More than a third of MFS patients experienced an aortic event and male patients had significantly more aortic events than females. More than half of the total number of dissections was in patients undiagnosed with MFS at the time of their event. This emphasizes that diagnosing MFS is lifesaving and improves mortality risk by reducing the risk of aorta dissection.

  1. Congenital dislocation of the deep digital flexor tendon associated with hypoplasia of the sustentaculum tali in a Thoroughbred colt

    International Nuclear Information System (INIS)

    Lepage, O.M.; Leveille, R.; Breton, L.; Marcoux, M.

    1995-01-01

    An 11-month-old Thoroughbred colt was presented with a hard swelling at the proximal third of the right 4th metatarsal bone. A medial dislocation of the deep digital flexor tendon (flexor digitorum profundus) was also observed on the same leg. On the plantaroproximal-plantarodistal projection of the calcaneus, there was flattening and shortening of the sustentaculum tali. The smooth bony proliferation at the proximal third of the right 4th metatarus was compatible with a chronic splint bone fracture. This report describes a medial deep digital flexor dislocation associated with hypoplasia of the sustentaculum tali

  2. Aortic root reconstruction by aortic valve-sparing operation (David type I reimplantation) in Marfan syndrome accompanied by annuloaortic ectasia and acute type-A aortic dissection.

    Science.gov (United States)

    Inamura, Shunichi; Furuya, Hidekazu; Yagi, Kentarou; Ikeya, Eriko; Yamaguchi, Masaomi; Fujimura, Takabumi; Kanabuchi, Kazuo

    2006-09-20

    To reconstruct the aortic root for aneurysm of the ascending aorta accompanied by aortic regurgitation, annuloaortic ectasia (AAE) and acute type-A dissection with root destruction, the Bentall operation using a prosthetic valve still is the standard procedure today. Valve-sparing procedures have actively been used for aortic root lesions, and have also been attempted in aortic root reconstruction for Marfan syndrome which may have abnormalities in the valve leaflets. We conducted a valve-sparing procedure in a female patient with Marfan syndrome who had AAE accompanied by type-A acute aortic dissection. The patient was a 37-year-old woman complaining of severe pain from the chest to the back. The limbs were long, and funnel breast was observed. Diastolic murmurs were heard. On chest computed tomography, a dissection cavity was present from the ascending aorta to the left common iliac artery, and the root dilated to 55 mm. Grade II aortic regurgitation was observed on ultrasound cardiography. Regarding her family history, her father had died suddenly at 54 years of age. She was diagnosed with type-A acute dissection concurrent with Marfan syndrome and AAE. The structure of the aortic valve was normal, and root reconstruction by a valve-sparing operation and total replacement of the aortic arch was conducted. On postoperative ultrasound cardiography, the aortic regurgitation was within the allowable range, and the shortterm postoperative results were good.

  3. Brain strokes related to aortic aneurysma – the analysis of three cases

    Directory of Open Access Journals (Sweden)

    Pastuszak Żanna

    2017-04-01

    Full Text Available Brain stroke connected with aortic blood flow disturbances is a rare disease and its incidence is difficult to assume. Nevertheless, 10-50% of patients with aortic dissection may not experience any pain. In case of 18-30% patients with aortic dissection neurological signs are first disease presentation and among them ischemic stroke is the most common. The most popular aortic dissection classification is with use of Stanford system. Type A involves the ascending aorta and type B is occurring distal to the subclavian artery. Aortic dissection risk factors include hypertension, cystic medionecrosis, bicuspid aortic valve and Marfan’s or Ehlers-Danlos syndrome.

  4. Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius)

    Science.gov (United States)

    Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective fo...

  5. Congenital hypoplasia of the lumbar pedicle with spondylolisthesis: report of 2 cases.

    Science.gov (United States)

    Hsieh, Chang-Sheng; Lee, Sang-Ho; Lee, Hyung Chang; Oh, Hyeong-Seok; Hwang, Byeong-Wook; Park, Sang-Joon; Chen, Jian-Han

    2017-04-01

    Congenital hypoplasia of the spinal pedicle is a rare condition. Previously reported cases were treated conservatively or with posterior instrumented fusion. However, the absence or hypoplasia of the lumbar pedicle may increase the difficulty of pedicle screw fixation and fusion. Herein, the authors describe 2 cases of rare adult congenital hypoplasia of the right lumbar pedicles associated with spondylolisthesis. The patients underwent anterior lumbar interbody fusion with a stand-alone cage as well as percutaneous pedicle screw fixation. This method was used to avoid the difficulties associated with pedicle screw fixation and to attain solid fusion. Both patients achieved satisfactory outcomes after a minimum of 2 years of follow-up. This method may be an alternative for patients with congenital hypoplasia of the lumbar spinal pedicle.

  6. Hypoplasia of the odontoid with atlanto-axial subluxation in Hurler's syndrome

    International Nuclear Information System (INIS)

    Thomas, S.L.; Childress, M.H.; Quinton, B.

    1985-01-01

    There appears to be an increased incidence of hypoplasia of the odontoid in Hurler's syndrome. As this predisposes to atlanto-axial subluxation, it should be sought in this mucopolysaccharidosis, as well as in Morquio's syndrome. (orig.)

  7. Blunt traumatic aortic injuries of the ascending aorta and aortic arch: a clinical multicentre study.

    Science.gov (United States)

    Mosquera, Victor X; Marini, Milagros; Muñiz, Javier; Gulias, Daniel; Asorey-Veiga, Vanesa; Adrio-Nazar, Belen; Herrera, José M; Pradas-Montilla, Gonzalo; Cuenca, José J

    2013-09-01

    To report the clinical and radiological characteristics, management and outcomes of traumatic ascending aorta and aortic arch injuries. Historic cohort multicentre study including 17 major trauma patients with traumatic aortic injury from January 2000 to January 2011. The most common mechanism of blunt trauma was motor-vehicle crash (47%) followed by motorcycle crash (41%). Patients sustaining traumatic ascending aorta or aortic arch injuries presented a high proportion of myocardial contusion (41%); moderate or greater aortic valve regurgitation (12%); haemopericardium (35%); severe head injuries (65%) and spinal cord injury (23%). The 58.8% of the patients presented a high degree aortic injury (types III and IV). Expected in-hospital mortality was over 50% as defined by mean TRISS 59.7 (SD 38.6) and mean ISS 48.2 (SD 21.6) on admission. Observed in-hospital mortality was 53%. The cause of death was directly related to the ATAI in 45% of cases, head and abdominal injuries being the cause of death in the remaining 55% cases. Long-term survival was 46% at 1 year, 39% at 5 years, and 19% at 10 years. Traumatic aortic injuries of the ascending aorta/arch should be considered in any major thoracic trauma patient presenting cardiac tamponade, aortic valve regurgitation and/or myocardial contusion. These aortic injuries are also associated with a high incidence of neurological injuries, which can be just as lethal as the aortic injury, so treatment priorities should be modulated on an individual basis. Copyright © 2012 Elsevier Ltd. All rights reserved.

  8. Circumferential ascending aortic strain and aortic stenosis.

    Science.gov (United States)

    Teixeira, Rogério; Moreira, Nádia; Baptista, Rui; Barbosa, António; Martins, Rui; Castro, Graça; Providência, Luís

    2013-07-01

    Two-dimensional speckle tracking (2D-ST) echocardiography for the measurement of circumferential ascending thoracic aortic strain (CAAS) in the context of aortic stenosis (AS) is not elucidated. Purpose This study assesses the thoracic ascending aortic deformation using 2D-ST echocardiography in AS patients. Population and methods Forty-five consecutive patients with an aortic valvular area (AVA) ≤0.85 cm(2)/m(2) were included. Regarding aortic deformation, the global peak CAAS was the parameter used, and an average of six segments of arterial wall deformation was calculated. The corrected CAAS was calculated as the global CAAS/pulse pressure (PP). Aortic stiffness (β2) index was assessed according to ln(Ps/Pd)/CAAS. The sample was stratified according to the stroke volume index (SVI) as: Group A (low flow, SVI ≤35 mL/m(2); n = 19) and Group B (normal flow, SVI >35 mL/m(2); n = 26). The mean age was 76.8 ± 10.3 years, 53.3% were male, the mean indexed AVA was 0.43 ± 0.15 cm(2)/m(2), and the mean CAAS was 6.3 ± 3.0%. The CAAS was predicted by SVI (β = 0.31, P < 0.01) and by valvulo-arterial impedance (Zva). The corrected CAAS was correlated with the M-mode guided aortic stiffness index (β1) (r = -0.39, P < 0.01), and was predicted by SVI, Zva, and systemic arterial compliance (β = 0.15, P < 0.01). The β2 index was significantly higher for the low-flow patients (16.1 ± 4.8 vs. 9.8 ± 5.3, P < 0.01), and was predicted by SVI (β -0.58, P < 0.01) and PP (β = 0.17, P < 0.01). Global CAAS was more accurate to predict low flow than Zva, systolic function and systemic vascular resistance. In patients with moderate-to-severe aortic stenosis, SVI and LV afterload-related variables were the most important determinants of 2S-ST global CAAS.

  9. Two stage hybrid approach for complex aortic coarctation repair

    Directory of Open Access Journals (Sweden)

    Crockett James

    2009-02-01

    Full Text Available Abstract Background Management of an adult patient with aortic coarctation and an associated cardiac pathology poses a great surgical challenge since there are no standard guidelines for the therapy of such complex pathology. Debate exists not only on which lesion should be corrected first, but also upon the type and timing of the procedure. Surgery can be one- or two-staged. Both of these strategies are accomplice with elevate morbidity and mortality. Case report In the face of such an extended surgical approach, balloon dilatation seems preferable for treatment of severe aortic coarctation. We present an adult male patient with aortic coarctation combined with ascending aorta aneurysm and concomitant aortic valve regurgitation. The aortic coarctation was corrected first, using percutaneous balloon dilatation; and in a second stage the aortic regurgitation and ascending aorta aneurysm was treated by Bentall procedure. The patients' postoperative period was uneventful. Three years after the operation he continues to do well.

  10. Two stage hybrid approach for complex aortic coarctation repair

    Science.gov (United States)

    Koletsis, Efstratios; Ekonomidis, Stella; Panagopoulos, Nikolaos; Tsaousis, George; Crockett, James; Panagiotou, Matthew

    2009-01-01

    Background Management of an adult patient with aortic coarctation and an associated cardiac pathology poses a great surgical challenge since there are no standard guidelines for the therapy of such complex pathology. Debate exists not only on which lesion should be corrected first, but also upon the type and timing of the procedure. Surgery can be one- or two-staged. Both of these strategies are accomplice with elevate morbidity and mortality. Case report In the face of such an extended surgical approach, balloon dilatation seems preferable for treatment of severe aortic coarctation. We present an adult male patient with aortic coarctation combined with ascending aorta aneurysm and concomitant aortic valve regurgitation. The aortic coarctation was corrected first, using percutaneous balloon dilatation; and in a second stage the aortic regurgitation and ascending aorta aneurysm was treated by Bentall procedure. The patients' postoperative period was uneventful. Three years after the operation he continues to do well. PMID:19239693

  11. Aorto-aortic intrathoracic bypass in surgical treatment of aortic

    International Nuclear Information System (INIS)

    Gutierrez Perez, F.; Duran Reyes, A.; Bigalli, D.; Filgueira Berobide, J.

    1998-01-01

    The prevalence of coarctation of the aorta is 6.5 percent of all congenital heart defects, according to national and international data. There is a restenosis rate of patients after surgery. Factors that influence this evolution depends on the age at which patients underwent surgery for the first time the anatomy of the aortic arch and type of surgical technique. Several procedures can be used to correct the coarctation, which include surgery and balloon catheter dilation. We present here a case of a patient of 22 years old, with a recurrent coarctation of the aorta studied by echocardiography and magnetic resonance imaging. The patient underwent surgery a third time. We used an anterior approach (median sternotomy) and performed an aortic bypass graft, intrathoracic, under cardiopulmonary bypass. Evolved favorably and was discharged on the sixth day of post operative day (Author) [es

  12. Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

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    Kobra Shiasi Arani

    2015-01-01

    Full Text Available Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and management of Cartilage-hair hypoplasia. A systematic search identified 127 papers include original and review articles and case reports. Results: Cartilage-Hair Hypoplasia characterized by short-limb dwarfism associated with metaphyseal chondrodysplasia. The inheritance is autosomal recessive. Other findings include hair hypoplasia, anemia, immunodeficiency, propensity to infections, gastrointestinal disorders (Hirschsprung disease, anal stenosis, esophageal atresia and malabsorption, defective spermatogenesis, increased risk of malignancies and higher rate of mortality. Immunodeficiency in cartilage-hair hypoplasia may be an isolated B-cell or isolated T-cell immunodeficiency or combined B and T-cell immunodeficiency; however, severe combined immunodeficiency is rare. There is no known treatment for hair hypoplasia. Growth hormone was used with conflicting results for short stature in children with Cartilage-hair hypoplasia. Skeletal problems must be managed with physiotherapy and appropriate orthopedic interventions. Hirschsprung disease, anal stenosis and esophageal atresia should be surgically corrected. Patients with severe hypoplastic anemia require repeated transfusions. Bone marrow transplantation may be required for patients with severe combined immunodeficiency or severe persistent hypoplastic anemia. Treatment with G-CSF is useful for neutropenia. Patients should be monitored closely for developing malignancy such as skin neoplasms, lymphomas and leukemias. Conclusions: Cartilage-hair hypoplasia is an important hereditary disease with different medical aspects. The high rate of consanguineous marriages in Iran necessitates considering CHH in any

  13. Enamel hypoplasia in a litter of rats with alloxan-induced diabetes mellitus

    OpenAIRE

    Silva-Sousa,Yara Teresinha Corrêa; Peres,Luiz Cesar; Foss,Milton Cesar

    2003-01-01

    Enamel hypoplasia is an important clinical problem commonly seen in children born to diabetic women. We aimed to characterize the enamel hypoplasia in Wistar rats born to alloxan-induced diabetes mellitus rats. Groups consisted of pregnant rats supplemented (ISDR) or not (NISDR) with insulin and controls, in which sterile saline solution was administered instead of alloxan or insulin. The mandibular incisors of one-month-old rats born to these mothers were analyzed. Whitish defective enamel w...

  14. Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report

    Directory of Open Access Journals (Sweden)

    Dagdelen Selcuk

    2008-06-01

    Full Text Available Abstract Introduction Growth retardation is one of the cardinal manifestations of glycogen storage disease type Ia. It is unclear which component of the growth hormone and/or insulin-like growth factor axis is primarily disrupted, and management of growth impairment in these patients remains controversial. Here we report the first case in the literature where glycogen storage disease type Ia is associated with pituitary hypoplasia and growth hormone deficiency. Case presentation A 20-year-old woman with glycogen storage disease type Ia was admitted to our endocrinology department because of growth retardation. Basal and overnight growth hormone sampling at 2-hour intervals demonstrated low levels; however, provocative testing revealed a relatively normal growth hormone response. A hypoplastic anterior pituitary with preserved growth hormone response to provocative testing suggested the possibility of growth hormone neurosecretory dysfunction and/or primary pituitary involvement. Conclusion Pituitary hypoplasia may result from growth hormone-releasing hormone deficiency, a condition generally known as growth hormone neurosecretory dysfunction. It is an abnormality with a spontaneous and pulsatile secretion pattern, characterized by short stature, growth retardation and normal serum growth hormone response to provocative testing. However, in the case described in this report, a normal although relatively low growth hormone response during insulin tolerance testing and pituitary hypoplasia suggested that primary pituitary involvement or growth hormone neurosecretory dysfunction may occur in glycogen storage disease type Ia. This is a potential cause of growth failure associated with a lower somatotroph mass, and may explain the variable responsiveness to growth hormone replacement therapy in people with glycogen storage disease.

  15. A retrospective analysis of sphenoid sinus hypoplasia and agenesis using dental volumetric CT in Turkish individuals.

    Science.gov (United States)

    Cakur, Binali; Sümbüllü, Muhammed Akif; Yılmaz, Ahmet Berhan

    2011-09-01

    In adults, sphenoid sinus agenesis is an extremely rare anomaly. The objective of this study was to investigate the prevalence of sphenoid sinus hypoplasia and agenesis using dental volumetric computed tomography (DVCT) in a population of Turkish individuals. DVCT scans in the axial, coronal and sagittal planes of the sphenoid sinus of 384 patients were examined for evidence of sphenoid sinus agenesis and hypoplasia. In the DVCT scans, bilateral agenesis of sphenoid sinus was not seen. Unilateral agenesis of sphenoid sinus was seen in 0.26% of the sample, and sphenoid sinus hypoplasia was seen in 0.52%. Unilateral hypoplasia of the sphenoid sinus was observed in 0.26% of the sample, and bilateral hypoplasia of sphenoid sinus was observed in 0.26%. In this study, we found a low frequency of sphenoid sinus agenesis. Compared with sphenoid sinus agenesis, the frequency of sphenoid sinus hypoplasia was higher. DVCT may be used as a diagnostic tool to investigate the paranasal sinus.

  16. Regional disc change in segmental hypoplasia of the lumbosacral vertebral bodies: MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sung Kyu; Lee Seung Ro; Moon, Won Jin; Park, Dong Woo; Hahm, Chang Kok [Hanyang University Hospital, Seoul (Korea, Republic of)

    2000-07-01

    To classify types of vertebral hypoplasia and to investigate the prevalence and patterns of associated disc degeneration. Defining vertebral hypoplasia as occurring when the AP diameter of a lower vertebral body is smaller than that of an upper ones, we retrospectively reviewed the MR images obtained in 34 cases of this condition involving young adults. Two major types and two subtypes, a total of four different entities were classified as follows; type I: hypoplasia involving a single vertebral body; type II: hypoplasia involving serial lower segmental vertebral bodies; subtype a: hypoplastic body located anteriorly along the anterior spinal line; subtype b: hypoplastic body located posteriorly along the posterior spinal line. We also investigated each type of vertebral hypoplasia and patterns of associated disc changes. Three different types were observed. In type IIa (n=3D29), posterior disc occurred in 8/29 cases, diffuse degeneration in 21/29 patients, and posterior disc herniation in all. All type Ia cases (3/3) showed diffuse disc degeneration at both upper and lower disc levels, with posterior disc herniation, while both type IIb cases (2/2) showed diffuse disc degeneration, with bidirectional disc herniation. By identifying the exact patterns of vertebral hypoplasia, we were able to predict which portion of the disc was likely to degenerate. (author)

  17. Enamel hypoplasia in deciduous teeth of great apes: do differences in defect prevalence imply differential levels of physiological stress?

    Science.gov (United States)

    Lukacs, J R

    1999-11-01

    This paper presents new data on enamel hypoplasia in the deciduous canine teeth of great apes. The enamel defect under consideration is known as localized hypoplasia of primary canines (LHPC), and is characterized by an area of thin or missing enamel on the labial surface of deciduous canine teeth (Skinner [1986a] Am. J. Phys. Anthropol. 69:59-69). Goals of this study are: 1) to determine if significant differences in the frequency of LHPC occur among three genera of great apes, and 2) to evaluate variation in LHPC prevalence among great apes as evidence of differential physiological stress. Infant and juvenile apes with deciduous teeth were examined at the Cleveland Museum of Natural History (n = 100) and at the Smithsonian Institution, National Museum of Natural History (n = 36). Deciduous teeth were observed under oblique incandescent light, with the naked eye and with a 10x hand lens. Enamel hypoplasia was scored using Federation Dentaire International (FDI)-Defects of Dental Enamel (DDE) standards. Hypoplasias were recorded by drawing defect location and size on a dental chart, and by measuring defect size and location with Helios needlepoint dial calipers. The prevalence of LHPC is reported by genus and sex, using two approaches: 1) the frequency of affected individuals-those having one or more deciduous canine teeth scored positive for LHPC; and 2) the number of canine teeth scored positive for LHPC as a percentage of all canine teeth observed. Variation in defect size and location will be described elsewhere. Localized hypoplasia of primary canine teeth was found in 62.5% of 128 individual apes, and in 45.5% of 398 great ape deciduous canines. As in humans, LHPC is the most common form of enamel hypoplasia in deciduous teeth of great apes, while LEH is rare or absent. The distribution and pattern of expression of LHPC in great apes is similar to that described in humans: side differences are not significant, but mandibular canines exhibit the defect two to

  18. Endovascular Stent Grafting for Aortic Arch Aneurysm in Aortoiliac Occlusive Disease following Aortic Arch Debranching and Aortobifemoral Reconstruction

    Directory of Open Access Journals (Sweden)

    Didem Melis Oztas

    2017-01-01

    Full Text Available Treatment of thoracic aortic aneurysms constitutes high mortality and morbidity rates despite improvements in surgery, anesthesia, and technology. Endovascular stent grafting may be an alternative therapy with lower risks when compared with conventional techniques. However, sometimes the branches of the aortic arch may require transport to the proximal segments prior to successful thoracic aortic endovascular stent grafting. Atherosclerosis is accounted among the etiology of both aneurysms and occlusive diseases that can coexist in the same patient. In these situations stent grafting may even be more complicated. In this report, we present the treatment of a 92-year-old patient with aortic arch aneurysm and proximal descending aortic aneurysm. For successful thoracic endovascular stent grafting, the patient needed an alternative route other than the native femoral and iliac arteries for the deployment of the stent graft. In addition, debranching of left carotid and subclavian arteries from the aortic arch was also required for successful exclusion of the thoracic aneurysm.

  19. Impact of bicuspid aortic valve on complications and death in infective endocarditis of native aortic valves.

    Science.gov (United States)

    Kahveci, Gokhan; Bayrak, Fatih; Pala, Selcuk; Mutlu, Bulent

    2009-01-01

    We retrospectively investigated the impact of bicuspid aortic valve on the prognosis of patients who had definite infective endocarditis of the native aortic valve.Of 51 patients, a bicuspid aortic valve was present in 22 (43%); the other 29 had tricuspid aortic valves. On average, the patients who had bicuspid valves were younger than those who had tricuspid valves. Patients with a tricuspid valve had larger left atrial diameters and were more likely to have severe mitral regurgitation.Periannular complications, which we detected in 19 patients (37%), were much more common in the patients who had a bicuspid valve (64% vs 17%, P = 0.001). The presence of a bicuspid valve was the only significant independent predictor of periannular complications. The in-hospital mortality rate in the bicuspid group was lower than that in the tricuspid group; however, this figure did not reach statistical significance (9% vs 24%, P = 0.15). In multivariate analysis, left atrial diameter was the only independent predictor associated with an increased risk of death (hazard ratio, 2.19; 95% confidence interval, 1.1-4.5; P = 0.031).In our study, patients with infective endocarditis in a bicuspid aortic valve were younger and had a higher incidence of periannular complications. Although a worse prognosis has been reported previously, we found that infective endocarditis in a native bicuspid aortic valve is not likely to increase the risk of death in comparison with infective endocarditis in native tricuspid aortic valves.

  20. Postoperative Reverse Remodeling and Symptomatic Improvement in Normal-Flow Low-Gradient Aortic Stenosis After Aortic Valve Replacement

    DEFF Research Database (Denmark)

    Carter-Storch, Rasmus; Møller, Jacob E; Christensen, Nicolaj L

    2017-01-01

    BACKGROUND: Severe aortic stenosis (AS) most often presents with reduced aortic valve area (benefit of aortic valve...... replacement (AVR) among NFLG patients is controversial. We compared the impact of NFLG condition on preoperative left ventricular (LV) remodeling and myocardial fibrosis and postoperative remodeling and symptomatic benefit. METHODS AND RESULTS: Eighty-seven consecutive patients with reduced aortic valve area...... and normal stroke volume index undergoing AVR underwent echocardiography, magnetic resonance imaging, a 6-minute walk test, and measurement of natriuretic peptides before and 1 year after AVR. Myocardial fibrosis was assessed from magnetic resonance imaging. Patients were stratified as NFLG or normal...

  1. In situ total aortic arch replacement for infected distal aortic arch aneurysms with penetrating atherosclerotic ulcer.

    Science.gov (United States)

    Okada, Kenji; Yamanaka, Katsuhiro; Sakamoto, Toshihito; Inoue, Takeshi; Matsumori, Masamichi; Kawakami, Fumi; Okita, Yutaka

    2014-11-01

    We present a series of patients who underwent in situ total aortic arch replacement for infected distal aortic arch aneurysms. Between 2002 and 2013, 9 patients with infected distal aortic arch aneurysms underwent total aortic arch replacement using antegrade selective cerebral perfusion. There were 4 male and 5 female patients with a mean age of 72.7±9.0 years. All patients had penetrating atherosclerotic ulcer in the distal aortic arch, which formed saccular aneurysms. Four patients had preoperative hoarseness. Maximum preoperative white blood cell count was 10,211±4375/μL, and mean serum C-reactive protein concentration was 12.7±7.2 mg/dL. Causative microorganisms were identified by blood culture or aortic wall culture and were as follows: Candida albicans, Pseudomonas aeruginosa, Edwardsiella tarda, Streptococcus dysgalactiae, Listeria monocytogenes, Staphylococcus aureus (2 cases), and unknown (2 cases). Radical debridement with in situ total aortic arch replacement was performed in all patients, followed by the omental flap grafting in 7 patients. All surgery was performed on an urgent or emergency basis. Average cardiopulmonary bypass time and lower body circulatory arrest time were 199.7±50.7 minutes and 66.6±13.8 minutes, respectively. There was no in-hospital mortality, but 1 patient died of asphyxia 5 months after hospital discharge. Freedom from recurrence of infection was 100%. Surgical treatment with the combination of radical debridement with in situ total aortic arch replacement using antegrade selective cerebral perfusion and omental flap grafting was a reliable procedure for the treatment of infected distal aortic arch aneurysms. Copyright © 2014. Published by Elsevier Inc.

  2. Aortic Aneurysm Statistics

    Science.gov (United States)

    ... people with inherited connective tissue disorders, such as Marfan syndrome and Ehlers-Danlos syndrome, get thoracic aortic aneurysms. ... Smoking . Some inherited connective tissue disorders, such as Marfan syndrome and Ehlers-Danlos syndrome, can also increase your ...

  3. Aortic Valve Disease

    Science.gov (United States)

    ... It is then replaced with an artificial valve (prosthesis). There are two valve options for aortic valve ... place, the catheter will be withdrawn from your body through the original access point. Because not all ...

  4. Spontaneous Thrombosis of a Bicuspid Aortic valve due to Primary Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Sarah Farrell

    2010-08-01

    Full Text Available We present the case of a 51-year-old man who was admitted as an emergency with spontaneous thrombosis of the aortic valve and ascending aorta. At operation he was found to have a congenitally bicuspid aortic valve and subsequent investigation revealed primary antiphospholipid syndrome. He underwent successful removal of the thrombus combined with mechanical replacement of the aortic valve.

  5. Decreased telomere length in children with cartilage-hair hypoplasia.

    Science.gov (United States)

    Kostjukovits, Svetlana; Degerman, Sofie; Pekkinen, Minna; Klemetti, Paula; Landfors, Mattias; Roos, Göran; Taskinen, Mervi; Mäkitie, Outi

    2017-05-01

    Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia caused by RMRP (RNA component of mitochondrial RNA processing endoribonuclease) gene mutations. Manifestations include short stature, variable immunodeficiency, anaemia and increased risk of malignancies, all of which have been described also in telomere biology disorders. RMRP interacts with the telomerase RT (TERT) subunit, but the influence of RMRP mutations on telomere length is unknown. We measured relative telomere length (RTL) in patients with CHH, their first-degree relatives and healthy controls and correlated RTL with clinical and laboratory features. The study cohort included 48 patients with CHH with homozygous (n=36) or compound heterozygous RMRP mutations (median age 38.2 years, range 6.0-70.8 years), 86 relatives (74 with a heterozygous RMRP mutation) and 94 unrelated healthy controls. We extracted DNA from peripheral blood, sequenced the RMRP gene and measured RTL by qPCR. Compared with age-matched and sex-matched healthy controls, median RTL was significantly shorter in patients with CHH (n=40 pairs, 1.05 vs 1.21, p=0.017), but not in mutation carriers (n=48 pairs, 1.16 vs 1.10, p=0.224). RTL correlated significantly with age in RMRP mutation carriers (r=-0.482, pCHH had shorter telomeres than controls (median RTL 1.12 vs 1.26, p=0.008). In patients with CHH, RTL showed no correlation with genotype, clinical or laboratory characteristics. Telomere length was decreased in children with CHH. We found no correlation between RTL and clinical or laboratory parameters. 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/.

  6. Thoracoabdominal Aortic Aneurysms

    Directory of Open Access Journals (Sweden)

    Ali Azizzadeh

    2008-09-01

    Full Text Available Over the last 50 years, significant progress has been made in the surgical repair of thoracoabdominal aortic aneurysms (TAAA.  Improvements in perioperative care and surgical techniques have resulted in reductions in complication and mortality rates. Adjunctive use of distal aortic perfusion and cerebrospinal fluid drainage has been especially helpful, reducing the incidence of neurological deficits to 2.4%. Current research is aimed at improving organ preservation. This review focuses on the current diagnosis and management of TAAA.

  7. Sequential transcatheter aortic valve implantation due to valve dislodgement

    DEFF Research Database (Denmark)

    Campante Teles, Rui; Costa, Cátia; Almeida, Manuel

    2017-01-01

    Transcatheter aortic valve implantation (TAVI) has become an important treatment in high surgical risk patients with severe aortic stenosis (AS), whose complications need to be managed promptly. The authors report the case of an 86-year-old woman presenting with severe symptomatic AS, rejected fo...

  8. Incidental necropsy finding of a quadricuspid aortic valve

    NARCIS (Netherlands)

    van Rijswijk, Jan Willem; Willemink, Martin; Kluin, Jolanda; Vink, Aryan

    2015-01-01

    Quadricuspid aortic valve is a rare congenital cardiac malformation often associated with abnormal valve function. In this article, we present a case of quadricuspid aortic valve only diagnosed at the time of post-mortem examination. (C) 2015 Elsevier Inc. All rights reserved.

  9. Percutaneous treatment of native aortic coarctation in adults

    NARCIS (Netherlands)

    Luijendijk, P.; Boekholdt, S. M.; Blom, N. A.; Groenink, M.; Backx, A. P.; Bouma, B. J.; Mulder, B. J. M.; de Winter, R. J.

    2011-01-01

    Aortic coarctation is a common congenital cardiac defect, which can be diagnosed over a wide range of ages and with varying degrees of severity. We present two cases of patients diagnosed with aortic coarctation in adulthood. Both patients were treated by an endovascular approach. These cases

  10. Cardiac tamponade associated with delayed ascending aortic perforation after blunt chest trauma: a case report.

    Science.gov (United States)

    Ryu, Dae Woong; Lee, Mi Kyung

    2017-06-17

    Cardiac tamponade due to aortic injury after blunt trauma is a rare and potentially fatal injury. Most aortic injuries caused by blunt trauma present as aortic dissection or rupture of the aortic isthmus. Several cases of delayed aortic injury have been reported. However, all of these injuries were observed in the descending aorta because they had been caused by a posterior rib fracture. We report the first case of cardiac tamponade associated with delayed ascending aortic perforation 2 weeks after blunt trauma. The patient was an 81-year-old man. In cases of blunt chest trauma, delayed ascending aortic injury causing cardiac tamponade is possible associated with various causes such as direct injury by fractured rib or delayed aortic perforation of initial blunt injury.

  11. Hybrid aortic repair with antegrade supra-aortic and renovisceral debranching from ascending aorta.

    Science.gov (United States)

    Del Castro-Madrazo, José Antonio; Rivas-Domínguez, Margarita; Fernández-Prendes, Carlota; Zanabili Al-Sibbai, Amer; Llaneza-Coto, José Manuel; Alonso-Pérez, Manuel

    2017-05-01

    Aortic dissection is a life threatening condition. Hybrid repair has been described for the treatment of complex aortic pathology such as thoracoabdominal aortic aneurysms (TAAA) and type A and B dissections, although open and total endovascular repair are also possible. Open surgery is still associated with substantial perioperative morbi-mortality rates, thus less invasive techniques such as endovascular repair and hybrid procedures can achieve good results in centers with experience. We present the case of a patient with a chronic type B dissection and TAAA degeneration that was treated in a single stage hybrid procedure with antegrade supra-aortic and renovisceral debranching from the ascending aorta and TEVAR. At three-year follow up, the patient is free of intervention-related complications.

  12. Transcatheter Aortic Valve Replacement for Severe Aortic Regurgitation With Acute Refractory Cardiogenic Shock.

    Science.gov (United States)

    Achkouty, Guy; Amabile, Nicolas; Zannis, Konstantinos; Veugeois, Aurélie; Caussin, Christophe

    2018-03-01

    From January 2013 to January 2017, 686 consecutive patients were referred to our centre for transcatheter aortic valve replacement, including 5 subjects with severe aortic regurgitation and acute refractory cardiogenic shock. These patients were contraindicated for surgical treatment by the heart team because of high surgical risk (median logistic EuroSCORE: 74.6/Society of Thoracic Surgeons score: 37.9). The success rate of valve implantation was 100% through transfemoral access with self-expandable devices. The observed 30-day mortality rate was 20%. Hence, the transcatheter aortic valve replacement procedure might represent a successful and life-saving intervention for treatment of patients with severe aortic regurgitation who present with acute refractory cardiogenic shock. Copyright © 2017 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  13. Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism.

    Science.gov (United States)

    Loureiro, Marta; Reis, Filipa; Robalo, Brígida; Pereira, Carla; Sampaio, Lurdes

    2015-09-28

    Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC) was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG), confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

  14. Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

    Directory of Open Access Journals (Sweden)

    Marta Loureiro

    2015-09-01

    Full Text Available Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG, confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

  15. Intertooth patterns of hypoplasia expression: implications for childhood health in the classic Maya collapse.

    Science.gov (United States)

    Wright, L E

    1997-02-01

    Enamel hypoplasias, which record interacting stresses of nutrition and illness during the period of tooth formation, are a key tool in the study of childhood health in prehistory. But interpretation of the age of peak morbidity is complicated by differences in susceptibility to stress both between tooth positions and within a single tooth. Here, hypoplasias are used to evaluate the prevailing ecological model for the collapse of Classic Period Lowland Maya civilization, circa AD 900. Hypoplasias were recorded in the full dentition of 160 adult skeletons from six archaeological sites in the Pasion River region of Guatemala. Instead of constructing a composite scale of stress experience, teeth are considered separately by position in the analysis. No statistical differences are found in the proportion of teeth affected by hypoplasia between "Early," Late Classic, and Terminal Classic Periods for anterior teeth considered to be most susceptible to stress, indicating stability in the overall stress loads affecting children of the three chronological periods. However, hypoplasia trends in posterior teeth may imply a change in the ontogenetic-timing of more severe stress episodes during the final occupation and perhaps herald a shift in child-care practices. These results provide little support for the ecological model of collapse but do call to attention the potential of posterior teeth to reveal subtle changes in childhood morbidity when consideredindividually.

  16. [Metabolic syndrome and aortic stiffness].

    Science.gov (United States)

    Simková, A; Bulas, J; Murín, J; Kozlíková, K; Janiga, I

    2010-09-01

    The metabolic syndrome (MS) is a cluster of risk factors that move the patient into higher level of risk category of cardiovascular disease and the probability of type 2 diabetes mellitus manifestation. Definition of MS is s based on the presence of selected risk factors as: abdominal obesity (lager waist circumpherence), atherogenic dyslipidemia (low value of HDL-cholesterol and increased level of triglycerides), increased fasting blood glucose (or type 2 DM diagnosis), higher blood pressure or antihypertensive therapy. In 2009 there were created harmonizing criteria for MS definition; the condition for assignment of MS is the presence of any 3 criteria of 5 mentioned above. The underlying disorder of MS is an insulin resistance or prediabetes. The patients with MS more frequently have subclinical (preclinical) target organ disease (TOD) which is the early sings of atherosclerosis. Increased aortic stiffness is one of the preclinical diseases and is defined by pathologically increased carotidofemoral pulse wave velocity in aorta (PWV Ao). With the aim to assess the influence of MS on aortic stiffness we examined the group of women with arterial hypertension and MS and compare them with the group of women without MS. The aortic stiffness was examined by Arteriograph--Tensiomed, the equipment working on the oscillometric principle in detection of pulsations of brachial artery. This method determines the global aortic stiffness based on the analysis of the shape of pulse curve of brachial artery. From the cohort of 49 pts 31 had MS, the subgroups did not differ in age or blood pressure level. The mean number of risk factors per person in MS was 3.7 comparing with 1.7 in those without MS. In the MS group there was more frequently abdominal obesity present (87% vs 44%), increased fasting blood glucose (81% vs 22%) and low HDL-cholesterol level. The pulse wave velocity in aorta, PWV Ao, was significantly higher in patients with MS (mean value 10,19 m/s vs 8,96 m

  17. Abdominal aortic feminism.

    Science.gov (United States)

    Mortimer, Alice Emily

    2014-11-14

    A 79-year-old woman presented to a private medical practice 2 years previously for an elective ultrasound screening scan. This imaging provided the evidence for a diagnosis of an abdominal aortic aneurysm (AAA) to be made. Despite having a number of recognised risk factors for an AAA, her general practitioner at the time did not follow the guidance set out by the private medical professional, that is, to refer the patient to a vascular specialist to be entered into a surveillance programme and surgically evaluated. The patient became symptomatic with her AAA, was admitted to hospital and found to have a tender, symptomatic, 6 cm leaking AAA. She consented for an emergency open AAA repair within a few hours of being admitted to hospital, despite the 50% perioperative mortality risk. The patient spent 4 days in intensive care where she recovered well. She was discharged after a 12 day hospital stay but unfortunately passed away shortly after her discharge from a previously undiagnosed gastric cancer. 2014 BMJ Publishing Group Ltd.

  18. A cervical myelopathy caused by invaginated anomaly of laminae of the axis in spina bifida occulta with hypoplasia of the atlas: case report.

    Science.gov (United States)

    Jiang, Yuquan; Xi, Yanhai; Ye, Xiaojian; Xu, Guohua; He, Hailong; Zhu, Yunrong

    2010-04-20

    A case report and review of previous literature are presented. The objective of this manuscript was to report a case of cervical myelopathy caused by invaginated anomalous laminae of the axis in a spina bifida occulta patient with hypoplasia of the arch of the atlas and to discuss the etiology of this disease. To the authors' knowledge, few cases of cervical myelopathy due to invaginated anomalous laminae of the axis have been reported, none of which is combined with hypoplasia of the arch of atlas. Treatment was surgical removal of the invaginated laminae. The patient's history, clinical examination, imaging findings, and treatment were reported, and the etiology was discussed. Characteristic findings were revealed from imaging studies and multiplane reconstruction of the computed tomography images. The patient was treated with a posterior decompressive operation based on the images. A rapid improvement was observed after the surgery, and the patient's neurology was completely restored 1 month later. We reported a rare characteristic anomaly of the laminae of the axis with hypoplasia of the posterior arch of atlas. A multiplane reconstruction of the computed tomography images was very necessary for treatment of this case. Possible causes of this anomaly may be the failure of ossification or fusion of the embryological term, whereas invagination of the osteophyte may be associated with the traction of the dense fibrous band during growth and development. Surgical removal of the laminae could result in a satisfactory outcome.

  19. Hipoplasia dérmica focal (Síndrome de Goltz: amplia variabilidad fenotípica Focal Dermal Hypoplasia (Goltz's Syndrome: Wide Phenotypic Variability

    Directory of Open Access Journals (Sweden)

    JC Acosta

    2009-12-01

    Full Text Available La hipoplasia dérmica focal (MIM# 305600, también llamada hipoplasia mesoectodérmica, es una rara entidad genética con un mecanismo de herencia dominante ligado al cromosoma X. Principalmente compromete piel, sistema esquelético, ojos y cara, con diferentes grados de severidad. Se describe dos casos clásicos e ilustrativos de hipoplasia dérmica focal, observando la amplia heterogeneidad fenotípica que estos pacientes pueden presentar. Hasta el momento es el segundo reporte en la literatura indexada de Colombia. Se realiza una amplia y actualizada revisión de la literatura.The focal dermal hypoplasia (MIM # 305600, also called mesoectodermica hypoplasia is a rare disease. It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.

  20. Pathogenetic Basis of Aortopathy and Aortic Valve Disease

    Science.gov (United States)

    2018-02-19

    Aortopathies; Thoracic Aortic Aneurysm; Aortic Valve Disease; Thoracic Aortic Disease; Thoracic Aortic Dissection; Thoracic Aortic Rupture; Ascending Aortic Disease; Descending Aortic Disease; Ascending Aortic Aneurysm; Descending Aortic Aneurysm; Marfan Syndrome; Loeys-Dietz Syndrome; Ehlers-Danlos Syndrome; Shprintzen-Goldberg Syndrome; Turner Syndrome; PHACE Syndrome; Autosomal Recessive Cutis Laxa; Congenital Contractural Arachnodactyly; Arterial Tortuosity Syndrome

  1. Permanent Tooth Agenesis and Maxillary Hypoplasia in Patients with Unilateral Cleft Lip and Palate.

    Science.gov (United States)

    Antonarakis, Gregory S; Fisher, David M

    2015-11-01

    Maxillary growth in patients with clefts is highly variable. The authors' aim was to investigate whether severity of maxillary hypoplasia is associated with the presence of permanent tooth agenesis in children with complete unilateral cleft lip and palate. Fifty children with complete unilateral cleft lip and palate were divided into two groups of 25 children. One group had tooth agenesis of the cleft maxillary lateral incisor, whereas the other did not. Panoramic radiographs, lateral cephalometric radiographs, and dental casts were available for all children in the mixed dentition phase before preparation for alveolar bone grafting. The Modified Huddart/Bodenham scoring system was used to determine dental arch relationships on dental casts. Lateral cephalometric radiographs were traced and analyzed. Differences between groups were investigated using independent samples t tests. Children with complete unilateral cleft lip and palate and tooth agenesis presented with more negative Modified Huddart/Bodenham scores (-12.4 ± 5.2) than those without tooth agenesis (-5.4 ± 3.5) (p agenesis. Individuals with complete unilateral cleft lip and palate and tooth agenesis demonstrate more deficient maxillary growth than those without tooth agenesis. This is evident in both the sagittal and vertical dimensions, and when looking at the dentoalveolar intermaxillary relationships. Risk, II.

  2. Vertebral Artery Hypoplasia and Posterior Circulation Infarction in Patients with Isolated Vertigo with Stroke Risk Factors.

    Science.gov (United States)

    Zhang, Dao Pei; Lu, Gui Feng; Zhang, Jie Wen; Zhang, Shu Ling; Ma, Qian Kun; Yin, Suo

    2017-02-01

    We aimed in this study to investigate the prevalence of vertebral artery hypoplasia (VAH) in a population with isolated vertigo in association with stroke risk factors, to determine whether VAH is an independent risk factor for posterior circulation infarction (PCI). We sequentially enrolled 245 patients with isolated vertigo with at least 1 vascular risk factor, who were divided into PCI and non-PCI groups, according to present signs of acute infarction on diffusion-weighted magnetic resonance imaging. All patients underwent magnetic resonance angiography and cervical contrast-enhanced magnetic resonance angiography to screen for VAH. Univariate and multivariate logistic regression analyses were performed to identify the significant risk factors for PCI. VAH was found in 64 of 245 patients (26%). VAH (odds ratio [OR] = 2.70, 95%confidence interval [CI] 1.17-6.23, P = .020), median stenosis of the posterior circulation (OR = 7.09, 95%CI = 2.54-19.79, P diabetes mellitus (OR = 3.13, 95%CI 1.38-7.12, P = .006) were independent risk factors for PCI. The predominant Trial of Org 10172 in Acute Stroke Treatment subtype in our patients with isolated vertigo with PCI complicated by VAH was mainly small-artery occlusion. Our findings suggest that VAH is an independent risk factor for PCI in patients with isolated vertigo with confirmed risk from stroke. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  3. Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

    Science.gov (United States)

    Horn, Julia; Schlesier, Michael; Warnatz, Klaus; Prasse, Antje; Superti-Furga, Andrea; Peter, Hans-Hartmut; Salzer, Ulrich

    2010-09-01

    Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene. Although its most constant feature is metaphyseal dysplasia with short stature, CHH is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas. The spectrum of immunologic phenotypes in CHH translates into clinical severity. Whereas T-cell deficiency may remain subclinical or may result in severe combined immunodeficiency or Omenn syndrome, humoral immunodeficiency has only rarely been noted in these patients. Here we report the diagnosis of CHH in a woman who presented with severe short stature and a full-blown antibody deficiency, clinically resembling common variable immunodeficiency. Sequencing of the RMRP gene revealed compound heterozygosity for two novel mutations (g.68_69delinsTT and g.76C>T). Despite the late onset of immunodeficiency in the patient, its clinical course was severe, and the patient died 3 years after the first diagnosis. Copyright 2010 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  4. Hypoplasia of the sphenoid sinuses as a diagnostic tool in cystic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Eggesboe, H.B. [Oslo Univ. (Norway). Dept. of Radiology; Eken, T. [Oslo Univ. (Norway). Dept. of Anaesthesiology; Eiklid, K. [Oslo Univ. (Norway). Dept. of Medical Genetics; Kolmannskog, F. [Sentrum Roentgeninstitutt, Oslo (Norway)

    1999-09-01

    Purpose: To measure and compare the size of the sphenoid sinuses in patients with cystic fibrosis (CF) to patients with inflammatory sinonasal disease, and to correlate the size with number of CF mutations in each patient. Material and Methods: Ninety-six CF patients aged 5-47 years (median 19 years) and 130 control patients aged 7-51 years (median 32 years) were examined using coronal CT of the paranasal sinuses. In each patient, the CT image with the largest coronal area of the sphenoid sinuses was scanned into a Macintosh computer with image processing and analysis software. Largest coronal area and largest circumference of the right and left sphenoid sinuses were automatically measured. Additionally, antero-posterior extension of the sphenoid sinuses was calculated from the lateral scanograms. CF patients were grouped according to number of confirmed mutations (CF-0, CF-1, or CF-2). Results: CF patients generally had small sphenoid sinuses. The largest difference for all parameters were observed between the CF-2 and the control groups (p{lt}0.0001). No CF-2 patient had pneumatization beyond the presphenoid. The CF-0 and CF-1 groups consisted of two populations, one overlapping the CF-2 group and another overlapping the control group. Conclusion: Hypoplasia of the sphenoid sinuses is a characteristic finding in CF patients. When pneumatization of the basisphenoid is present, the existing CF diagnosis should be questioned. (orig.)

  5. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.

    Science.gov (United States)

    Sotos, Juan; Miller, Katherine; Corsmeier, Donald; Tokar, Naomi; Kelly, Benjamin; Nadella, Vijay; Zhong, Huachun; Wetzel, Amy; Adler, Brent; Yu, Chack-Yung; White, Peter

    2017-01-01

    We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism. At age 37, she underwent whole exome sequencing (WES) to identify pathogenic variants. WES revealed compound heterozygous variants in DCHS1 (rs145099391:G > A, p.P197L & rs753548138:G > A, p .T2334 M) [RefSeq NM_003737.3], diagnostic of Van Maldergem syndrome (VMS-1). VMS is a rare autosomal disorder reported in only 13 patients, characterized by intellectual disability, typical craniofacial features, auditory malformations, hearing loss, skeletal and limb malformations, brain abnormalities with periventricular neuronal heterotopia and other variable anomalies. Our patient had similar phenotypic abnormalities. She also had hypogonadotropic hypogonadism and amazia. Based on the clinical findings reported, two previously published patients with VMS may also have been affected by hypogonadotropic hypogonadism, but endocrine abnormalities were not evaluated or mentioned. This case highlights an individual with VMS, characterized by compound heterozygous variants in DCHS1 . Our observations may provide additional information on the phenotypic spectrum of VMS, including hypogonadotropic hypogonadism and amazia. However, the molecular genetic basis for endocrine anomalies observed in some VMS patients, including ours, remains unexplained.

  6. Enamel hypoplasias and physiological stress in the Sima de los Huesos Middle Pleistocene hominins.

    Science.gov (United States)

    Cunha, E; Rozzi, F Ramirez; Bermúdez de Castro, J M; Martinón-Torres, M; Wasterlain, S N; Sarmiento, S

    2004-11-01

    This study presents an analysis of linear enamel hypoplasias (LEH) and plane-form defects (PFD) in the hominine dental sample from the Sima de los Huesos (SH) Middle Pleistocene site in Atapuerca (Spain). The SH sample comprises 475 teeth, 467 permanent and 8 deciduous, belonging to a minimum of 28 individuals. The method for recording PFD and LEH is discussed, as well as the definition of LEH. The prevalence of LEH and PFD in SH permanent dentition (unilateral total count) is 4.6% (13/280). Only one deciduous tooth (lower dc) showed an enamel disruption. Prevalence by individual ranges from 18.7-30%. The most likely explanation for the relatively low LEH and PFD prevalence in the SH sample suggests that the SH population exhibited a low level of developmental stress. The age at occurrence of LEH and PFD was determined by counting the number of perikymata between each lesion and the cervix of the tooth. Assuming a periodicity of nine days for the incremental lines, the majority of LEH in the SH sample occurred during the third year of life and may be related to the metabolic stress associated with weaning.

  7. Spondylolysis and isthmic spondylolisthesis: impact of vertebral hypoplasia on the use of the Meyerding classification.

    Science.gov (United States)

    Niggemann, P; Kuchta, J; Grosskurth, D; Beyer, H K; Hoeffer, J; Delank, K S

    2012-04-01

    Spondylolysis and isthmic spondylolisthesis are common multifactorial disorders. The extent of slipping of the spondylolytic vertebra is considered a major predicator for prognosis and further follow-up. Vertebral hypoplasia is a common finding associated with spondylolysis. The purpose of this study is to evaluate the incidence of hypoplastic vertebral bodies in patients with spondylolysis and in the general population and to analyse the impact of the findings on the measurement and grading of spondylolisthesis. 140 patients with 141 levels of spondylolysis identified by MRI were included in this study. The slippage of the spondylolytic vertebral body and the size in the midline sagittal image were measured and correlated. In addition, a randomised control group was evaluated to test the hypothesis that shortened, hypoplastic vertebral bodies can also be found in the general population. Shortened, hypoplastic vertebrae were found in 50 patients with spondylolysis and none was found in the control group. These shortened vertebrae mimicked spondylolisthesis and in 19 patients the slippage equalled the shortening, thus mimicking spondylolisthesis, although only spondylolysis was present. Sagittal shortening of the spondylolytic vertebra is common and may mimic spondylolisthesis. In order to define and measure spondylolisthesis the shortening of the spondylolytic vertebra has to be taken into account.

  8. Research of Customized Aortic Stent Graft Manufacture

    Science.gov (United States)

    Zhang, Lei; Chen, Xin; Liu, Muhan

    2017-03-01

    Thoracic descending aorta diseases include aortic dissection and aortic aneurysm, of which the natural mortality rate is extremely high. At present, endovascular aneurysm repair (EVAR) has been widely used as an effective means for the treatment of descending aortic disease. Most of the existing coating stents are standard design, which are unable to meet the size or structure of different patients. As a result, failure of treatment would be caused by dimensional discrepancy between stent and vessels, which could lead to internal leakage or rupture of blood vessels. Therefore, based on rapid prototyping sacrificial core - coating forming (RPSC-CF), a customized aortic stent graft manufactured technique has been proposed in this study. The aortic stent graft consists of film and metallic stent, so polyether polyurethane (PU) and nickel-titanium (NiTi) shape memory alloy with good biocompatibility were chosen. To minimum film thickness without degrading performance, effect of different dip coating conditions on the thickness of film were studied. To make the NiTi alloy exhibit super-elasticity at body temperature (37°C), influence of different heat treatment conditions on austenite transformation temperature (Af) and mechanical properties were studied. The results show that the customized stent grafts could meet the demand of personalized therapy, and have good performance in blasting pressure and radial support force, laying the foundation for further animal experiment and clinical experiment.

  9. Analysis of aortic root surgery with composite mechanical aortic valve conduit and valve-sparing reconstruction.

    Science.gov (United States)

    Dias, Ricardo Ribeiro; Mejia, Omar Asdrubal Vilca; Fiorelli, Alfredo Inácio; Pomerantzeff, Pablo Maria Alberto; Dias, Altamiro Ribeiro; Mady, Charles; Stolf, Noedir Antonio Groppo

    2010-01-01

    Comparative analysis of early and late results of aortic root reconstruction with aortic valve sparing operations and the composite mechanical valve conduit replacement. From November 2002 to September 2009, 164 consecutive patients with mean age 54 ± 15 years, 115 male, underwent the aortic root reconstruction (125 mechanical valve conduit replacements and 39 valve sparing operations). Sixteen percent of patients had Marfan syndrome and 4.3% had bicuspid aortic valve. One hundred and forty-four patients (88%) were followed for a mean period of 41.1 ± 20.8 months. The hospital mortality was 4.9%, 5.6% in operations with valved conduits and 2.6% in the valve sparing procedures (P valve sparing operations, respectively (95% CI = 70% - 95%, P = 0.001), (95% CI = 82% - 95% P = 0.03) and (95% CI = 81% - 95%, P = 0.03). Multivariate analysis showed that creatinine greater than 1.4 mg/dl, Cabrol operation and renal dialysis were predictors of mortality, respectively, with occurrence chance of 6 (95% CI = 1.8 - 19.5, P = 0.003), 12 (95% CI = 3 - 49.7, P = 0.0004) and 16 (95% CI = 3.6 - 71.3, P = 0.0002). The aortic root reconstruction has a low early and late mortality, high survival free of complications and low need for reoperation. During the late follow-up, valve sparing aortic root reconstructions presented fewer incidences of bleeding, thromboembolic events and endocarditis.

  10. Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

    Directory of Open Access Journals (Sweden)

    Nagendra Chaudhary

    2017-01-01

    Full Text Available Goldenhar syndrome (GS, a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association.

  11. [Aortic arch advancement surgery as treatment for aortic coarctation with hypoplastic aortic arch in children].

    Science.gov (United States)

    Palacios-Macedo-Quenot, Alexis; Urencio, Miguel; Ponce-De-León-Rosales, Sergio; López-Terrazas, Javier; Castañuela-Sánchez, Violeta; March-Mifsut, Almudena; López-Magallón, Alejandro; Pérez-Juárez, Fabiola; Cedillo-Rendón, Irma; Tamariz-Cruz, Orlando

    2012-01-01

    Treatment of aortic coarctation with hypoplastic aortic arch is still a surgical challenge. The aortic arch advancement surgery has shown less re-coarctation frequency. To determine the re-coarctation frequency in patients who underwent aortic arch advancement technique for aortic coarctation with hypoplastic aortic arch and analyze the results. Retrospective and observational study of 38 patients who underwent aortic arch advancement in a third level Institution from 2002 to 2010. Twenty four males and 14 females all with aortic arch Z index diameter of coarctation was O%. With the previously mentioned technique the recoarctation frequency on medium and long term basis was 0%. From the anatomical and functional point of view, we believe this technique offers the best possible results.

  12. Aortic valve-sparing surgery in Marfan syndrome.

    Science.gov (United States)

    Nachum, Eyal; Shinfeld, Amichay; Kogan, Alexander; Preisman, Sergey; Levin, Shany; Raanani, Ehud

    2013-08-01

    Patients with Marfan syndrome are referred for cardiac surgery due to root aneurysm with or without aortic valve regurgitation. Because these patients are young and frequently present with normal-appearing aortic cusps, valve sparing is often recommended. However, due to the genetic nature of the disease, the durability of such surgery remains uncertain. Between February 2004 and June 2012, 100 patients in our department suffering from aortic aneurysm with aortic valve regurgitation underwent elective aortic valve-sparing surgery. Of them, 30 had Marfan syndrome, were significantly younger (30 +/- 13 vs. 53 +/- 16 years), and had a higher percentage of root aneurysm, compared with ascending aorta aneurysm in their non-Marfan counterparts. We evaluated the safety, durability, clinical and echocardiographic mid-term results of these patients. While no early deaths were reported in either group, there were a few major early complications in both groups. At follow-up (reaching 8 years with a mean of 34 +/- 26 months) there were no late deaths, and few major late complications in the Marfan group. Altogether, 96% and 78% of the patients were in New York Heart Association functional class I-II in the Marfan and non-Marfan groups respectively. None of the Marfan patients needed reoperation on the aortic valve. Freedom from recurrent aortic valve regurgitation > 3+ was 94% in the Marfan patients. Aortic valve-sparing surgery in Marfan symdrome patients is safe and yields good mid-term clinical outcomes.

  13. Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

    Science.gov (United States)

    Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

    2015-11-01

    To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. Unilateral agenesis and hypoplasia of the internal carotid artery: a report of three cases

    Energy Technology Data Exchange (ETDEWEB)

    Ito, S.; Iino, N.; Shiokawa, Y.; Saito, I. [Kyorin University School of Medicine, Department of Neurosurgery, Mitaka City, Tokyo (Japan); Miyazaki, H. [Shirakawa Hospital, Department of Neurosurgery, Fukushima (Japan)

    2005-05-01

    We report one patient with agenesis and two with hypoplasia of the internal carotid artery (ICA) from an angiographic series of 1275 consecutive patients. In all three patients, MRI and MR angiography were used to establish the anatomical situation; however, they may not clearly distinguish between hypoplasia and agenesis or acquired stenosis or occlusion of the ICA. In such cases, CT of the skull base may be obtained to clarify matters. In all patients, retrograde flow via a large posterior communicating artery was demonstrated. Single-photon emission computed tomography confirmed both the adequacy of cerebral perfusion and the preservation of vasomotor reactivity. (orig.)

  15. Unilateral agenesis and hypoplasia of the internal carotid artery: a report of three cases

    International Nuclear Information System (INIS)

    Ito, S.; Iino, N.; Shiokawa, Y.; Saito, I.; Miyazaki, H.

    2005-01-01

    We report one patient with agenesis and two with hypoplasia of the internal carotid artery (ICA) from an angiographic series of 1275 consecutive patients. In all three patients, MRI and MR angiography were used to establish the anatomical situation; however, they may not clearly distinguish between hypoplasia and agenesis or acquired stenosis or occlusion of the ICA. In such cases, CT of the skull base may be obtained to clarify matters. In all patients, retrograde flow via a large posterior communicating artery was demonstrated. Single-photon emission computed tomography confirmed both the adequacy of cerebral perfusion and the preservation of vasomotor reactivity. (orig.)

  16. The helical three-dimensional CT in the diagnosis of torticollis with occipitocondylar hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Ilkko, E.; Tikkakoski, T.; Pyhtinen, J. [Department of Radiology, Oulu University Hospital, Kajaanintie 50, 90220 Oulu (Finland)

    1998-11-01

    Congenital anomalies of the atlanto-occipital and atlantoaxial joints are rare. Those most commonly reported are atlantoaxial instability, basilar impression, anomalies of the odontoid process, laxity of the transverse atlantal ligament and atlanto-occipital fusion. Occipital condylar hypoplasia is infrequent and difficult to recognise. We recently diagnosed it using helical 3D CT in association with torticollis in two patients. The first patient had a several year history of torticollis. The second patient had acute cervical lymphadenitis associated with post-operative torticollis. 3D CT distinctly revealed atlantoaxial subluxation with hypoplasia of the occipital condyles in both cases. (Copyright (c) 1998 Elsevier Science B.V., Amsterdam. All rights reserved.)

  17. Leaking mycotic abdominal aortic aneurysm

    International Nuclear Information System (INIS)

    Sing, T.M.Y.; Young, N.; O'Rourke, I.C.; Tomlinson, P.

    1994-01-01

    A case of leaking mycotic abdominal aortic aneurysm is reported, with a brief review of the literature. A 58 year old female presented with shoulder and abdominal pain associated with diarrhea, vomiting and fever with leucocytosis. Computed tomography of the abdomen showed pooling of contrast in the retroperitoneum anterior to a non-dilated abdominal aorta. There was considerable retroperitoneal blood accumulating in a mass-like lesion in the right lower abdomen and pelvis obstructing the right renal collecting system. Laparotomy revealed a 4 cm diameter saccular aneurysm of the abdominal aorta, with a 1 cm diameter neck. Culture of the thrombus grew Streptococcus pyogens. 11 refs., 2 figs

  18. FELINE AORTIC THROMBOEMBOLISM: CASE REPORT

    OpenAIRE

    Figueroa A., Lizbeth; Facultad de Medicina Veterinaria, Universidad Nacional Mayor de San Marcos, Lima, Perú.; Paz M., Ricardo; Facultad de Medicina Veterinaria, Universidad Nacional Mayor de San Marcos, Lima, Perú.; Díaz C., Diego; Facultad de Medicina Veterinaria, Universidad Nacional Mayor de San Marcos, Lima, Perú.; Dávila F., Roberto; Facultad de Medicina Veterinaria, Universidad Nacional Mayor de San Marcos, Lima, Perú.

    2014-01-01

    Se presenta el caso de un felino Siamés de 13 años con tromboembolismo aórtico. Esta es una complicación asociada a una cardiomiopatía hipertrófica (CMH), enfermedad cardiaca más común del gato y que se caracteriza por la hipertrofia concéntrica ventricular izquierda. A case of a 13 year old Siamese cat whit feline aortic thromboembolism is presented. This is a devastating complication associated to hypertrophic cardiomyopathy (HCM), one of the most common heart disease in cats characteriz...

  19. Supravalvular aortic stenosis with sudden cardiac death

    Directory of Open Access Journals (Sweden)

    Pradeep Vaideeswar

    2015-01-01

    Full Text Available Sudden cardiac death (SCD most commonly results from previously undiagnosed congenital, acquired, or hereditary cardiac diseases. Congenital aortic valvular, subvalvular, and supravalvular disease with left ventricular outflow tract obstruction is an important preventable cause of sudden death. This report documents sudden death presumably due to acute myocardial ischemia in a young male with an undiagnosed supravalvular aortic stenosis (SVAS due to a rare association of isolation of coronary sinuses of Valsalva. Congenital supravalvular pulmonary stenosis and mitral valvular dysplasia were also present.

  20. Flow measurement at the aortic root

    DEFF Research Database (Denmark)

    Bertelsen, Litten; Svendsen, Jesper Hastrup; Køber, Lars

    2016-01-01

    BACKGROUND: Cardiovascular magnetic resonance (CMR) is considered the gold standard of cardiac volumetric measurements. Flow in the aortic root is often measured at the sinotubular junction, even though placing the slice just above valve level may be more precise. It is unknown how much flow...... measurements vary at different levels in the aortic root and which level corresponds best to left ventricle volumetry. METHODS: All patients were older than 70 years presenting with at least one of the following diagnoses: diabetes, hypertension, prior stroke and/or heart failure. Patients with arrhythmias...

  1. Focal dermal hypoplasia (Goltz Syndrome: A cross-sectionalstudy from Eastern India

    Directory of Open Access Journals (Sweden)

    Sudip Kumar Ghosh

    2017-01-01

    Full Text Available Introduction: Focal dermal hypoplasia (Goltz syndrome, is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome. Methology: This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India. Consecutive patients with the clinical diagnosis of Goltz syndrome were studied. Results: A total of 8 patients with Goltz syndrome were evaluated. Out of them, one patient was a boy and the rest were girl. The age ranged from 3 days to 9 years. There was no family history. A characteristic Blaschkoid hypo- and hyper-pigmented skin lesions, congenital nodular fat herniation, and skin atrophy were present in all patients. Congenital cutaneous aplasia was present in 50% of the patients. Facial asymmetry and ear deformity (megalopinna and low-set ears were seen in 37.5% and 12.5% of patients, respectively. Cutaneous telangiectasia was noticed in 37.5% of patients. Freckle- and lentigines-like pigmentation within the hypopigmented macules was found in 25% of patients. Raspberry-like papillomas around mouth were documented in 6 (75% patients. Dysplastic nail changes with ridging were seen in 7 (87.5% patients. Genital abnormality in the form of bilateral undescended testes and microphthalmia with aniridia were found in one patient each. Limb defects were present in all patients. Left-sided renal agenesis was found in one patient. The patient also had multiple cortical cysts of the right kidney. Limitations: Genetic testing could not be performed in the present series. Conclusions: Our case series showed a few unusual or extremely rare manifestations such as undescended testes, dermal sinus, kyphoscoliosis

  2. Comparing American, European and Asian practice guidelines for aortic diseases.

    Science.gov (United States)

    Rozado, Jose; Martin, Maria; Pascual, Isaac; Hernandez-Vaquero, Daniel; Moris, Cesar

    2017-05-01

    The aortic disease comprises a group of different pathologies of high prevalence, seriousness and ever changing by the medical and surgical investigations. Therefore cardiovascular scientific societies in USA, Europe and Asia have created Task Force on practice guidelines (PG) to develop, update and revise PG for aortic diseases. These documents issue recommendations on the diagnosis and management of different aortic diseases. The three societies agree on the recommendations about diagnostic tests and on the value of computed tomography and magnetic resonance as the main tools for the diagnosis and follow-up of aortic disease. Concerning to acute aortic syndromes (AAS), American and European GPs recognize intramural hematoma (IMH) as a type of AAS with surgery indication; however Asian guidelines consider IMH a pathological process different from AAS and indicate medical treatment. In thoracic aortic aneurysms (TAA), all express the need for an adequate control of cardiovascular risk factors, emphasizing strict control of blood pressure, smoking cessation and recommend the use of beta-blockers and statins. The threshold for asymptomatic repair is 5.5 cm in European and American and 6 cm for Asian PG, with lower thresholds in Marfan and bicuspid aortic valve (BAV). As regards the abdominal aortic aneurysms (AAA), the PGs recognize the adequate control of cardiovascular risk factors, but there are differences in class of recommendation on statins, angiotensin-converting enzyme inhibitors or beta-blockers to prevent progression of AAA. For intervention, the threshold diameter in asymptomatic is 5.5 cm but can be reduced to 5 cm in women as recommended by Asian PG. Moreover the specific diseases such as Marfan, BAV, pregnancy or atherosclerosis aortic present specific recommendations with small differences between PGs. In conclusion, PGs are interesting and appropriate documents at present. They issue recommendations based on evidence that help the clinician and

  3. Large aortic aneurysm and dissection in a patient with Marfan's syndrome

    Directory of Open Access Journals (Sweden)

    Fernando Pivatto Júnior

    2015-04-01

    Full Text Available Marfan’s syndrome is an autosomal dominant disorder of connective tissue affecting approximately1 in5000 people. In individuals with this syndrome, more than 90% of deaths from known causes result from cardiovascular complications, such as aortic dissection, aortic regurgitation, and congestive cardiac failure. In this report, we present a patient with a large symptomatic aortic aneurysm and chronic dissection, severe aortic regurgitation and cardiomegaly, treated successfully with resection of the proximal aorta and placement of a mechanic aortic valved graft.

  4. [Albert Einstein and his abdominal aortic aneurysm].

    Science.gov (United States)

    Cervantes Castro, Jorge

    2011-01-01

    The interesting case of Albert Einstein's abdominal aortic aneurysm is presented. He was operated on at age 69 and, finding that the large aneurysm could not be removed, the surgeon elected to wrap it with cellophane to prevent its growth. However, seven years later the aneurysm ruptured and caused the death of the famous scientist.

  5. Fatal Saccharomyces Cerevisiae Aortic Graft Infection

    Science.gov (United States)

    Meyer, Michael (Technical Monitor); Smith, Davey; Metzgar, David; Wills, Christopher; Fierer, Joshua

    2002-01-01

    Saccharomyces cerevisiae is a yeast commonly used in baking and a frequent colonizer of human mucosal surfaces. It is considered relatively nonpathogenic in immunocompetent adults. We present a case of S. cerevisiae fungemia and aortic graft infection in an immunocompetent adult. This is the first reported case of S. cerevisiue fungemia where the identity of the pathogen was confirmed by rRNA sequencing.

  6. Severe aortic valve stenosis and nosebleed

    NARCIS (Netherlands)

    Schoedel, Johannes; Obergfell, Achim; Maass, Alexander H.; Schodel, Johannes

    2007-01-01

    Aortic valve stenosis is known to be associated with loss of high molecular von Willebrand multimers. This can lead to gastrointestinal bleeding in patients with gastrointestinal angiodysplasia, the Heyde syndrome. Here we present a case of anaemia and severe epistaxis associated with acquired von

  7. Natural history of abdominal aortic aneurysm

    DEFF Research Database (Denmark)

    Perko, M J; Schroeder, T V; Olsen, P S

    1993-01-01

    During a 10-year period in which 735 patients presented with abdominal aortic aneurysms to our clinic, 63 were not offered operative treatment. The primary reason for choosing conservative treatment was concomitant diseases that increased the risk of operation. After 2 years of followup, half...

  8. An easy miss: aortic dissection in a 'healthy' male.

    Science.gov (United States)

    Co, Michael Lawrenz F; Agdamag, Arianne Clare; Mateo, Roselyn Cristelle; Williams, Kim A

    2017-08-07

    Aortic dissection is an uncommon cause of chest discomfort that can be rapidly fatal without early diagnosis and prompt treatment. In this report, we present a man with no risk factors who presented with chest discomfort not typical of a dissection, absent pulse and blood pressure differential and a normal chest radiograph. He eventually was diagnosed with an extensive Type-A aortic dissection. We discuss diagnostic clues, classification of aortic dissection and possible treatment options. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  9. Subcoronary versus supracoronary aortic stenosis. an experimental evaluation

    Directory of Open Access Journals (Sweden)

    Hasenkam J Michael

    2011-08-01

    Full Text Available Abstract Background Valvular aortic stenosis is the most common cause of left ventricular hypertrophy due to gradually increasing pressure work. As the stenosis develop the left ventricular hypertrophy may lead to congestive heart failure, increased risk of perioperative complications and also increased risk of sudden death. A functional porcine model imitating the pathophysiological nature of valvular aortic stenosis is very much sought after in order to study the geometrical and pathophysiological changes of the left ventricle, timing of surgery and also pharmacological therapy in this patient group. Earlier we developed a porcine model for aortic stenosis based on supracoronary aortic banding, this model may not completely imitate the pathophysiological changes that occurs when valvular aortic stenosis is present including the coronary blood flow. It would therefore be desirable to optimize this model according to the localization of the stenosis. Methods In 20 kg pigs subcoronary (n = 8, supracoronary aortic banding (n = 8 or sham operation (n = 4 was preformed via a left lateral thoracotomy. The primary endpoint was left ventricular wall thickness; secondary endpoints were heart/body weight ratio and the systolic/diastolic blood flow ratio in the left anterior descending coronary. Statistical evaluation by oneway anova and unpaired t-test. Results Sub- and supracoronary banding induce an equal degree of left ventricular hypertrophy compared with the control group. The coronary blood flow ratio was slightly but not significantly higher in the supracoronary group (ratio = 0.45 compared with the two other groups (subcoronary ratio = 0.36, control ratio = 0.34. Conclusions A human pathophysiologically compatible porcine model for valvular aortic stenosis was developed by performing subcoronary aortic banding. Sub- and supracoronary aortic banding induce an equal degree of left ventricular hypertrophy. This model may be valid for experimental

  10. Subcoronary versus supracoronary aortic stenosis. An experimental evaluation.

    Science.gov (United States)

    Sorensen, Mette; Hasenkam, J Michael; Jensen, Henrik; Sloth, Erik

    2011-08-22

    Valvular aortic stenosis is the most common cause of left ventricular hypertrophy due to gradually increasing pressure work. As the stenosis develop the left ventricular hypertrophy may lead to congestive heart failure, increased risk of perioperative complications and also increased risk of sudden death. A functional porcine model imitating the pathophysiological nature of valvular aortic stenosis is very much sought after in order to study the geometrical and pathophysiological changes of the left ventricle, timing of surgery and also pharmacological therapy in this patient group. Earlier we developed a porcine model for aortic stenosis based on supracoronary aortic banding, this model may not completely imitate the pathophysiological changes that occurs when valvular aortic stenosis is present including the coronary blood flow. It would therefore be desirable to optimize this model according to the localization of the stenosis. In 20 kg pigs subcoronary (n = 8), supracoronary aortic banding (n = 8) or sham operation (n = 4) was preformed via a left lateral thoracotomy. The primary endpoint was left ventricular wall thickness; secondary endpoints were heart/body weight ratio and the systolic/diastolic blood flow ratio in the left anterior descending coronary. Statistical evaluation by oneway anova and unpaired t-test. Sub- and supracoronary banding induce an equal degree of left ventricular hypertrophy compared with the control group. The coronary blood flow ratio was slightly but not significantly higher in the supracoronary group (ratio = 0.45) compared with the two other groups (subcoronary ratio = 0.36, control ratio = 0.34). A human pathophysiologically compatible porcine model for valvular aortic stenosis was developed by performing subcoronary aortic banding. Sub- and supracoronary aortic banding induce an equal degree of left ventricular hypertrophy. This model may be valid for experimental investigations of aortic valve stenosis but studies of left

  11. Diagnostic imaging of acute aortic dissection

    International Nuclear Information System (INIS)

    Ohya, Tohru; Kumazaki, Tatsuo

    1991-01-01

    One hundred and nineteen patients with aortic dissection who underwent diagnostic imaging were reviewed and angiographic findings as well as those of CT were analysed. Thirty eight cases (43.1%) had non-contrast opacified false lumen, the type of which we call 'thrombosed type aortic dissection'. A comparative study of the thrombosed type with the patent type of false lumens was made particularly from the stand point of the characteristic diagnostic imagings (CT and angiography). At the same time, the pitfalls of these imagings in thrombosed type aortic dissection were studied. At the onset the average age of thrombosed type was 62.3 years old, while that of the patent type was 57.3. A statistical significance between the two groups was p<0.05. Thrombosed type in all cases was caused by atherosclerosis, whereas patent type was caused by the Marfan's syndrome in 11 cases. Other clinical findings, such as initial symptoms and blood pressure revealed no significant differences between the two groups. Pre-contrast CT in acute thrombosed type aortic dissection showed 'hyperdense crescent sign' in 89.4%. However, in 3 cases with thrombosed type in which the pre-contrast CT showed 'hyperdense crescent sign' contrast-enhanced CT detected no clear evidence of aortic dissection in the same site. This was due to obscurity induced by contrast medium. Angiographic findings of thrombosed type were classified into 3 groups: normal type, stenosed true lumen type and ulcer-like projection type. The incidence of normal type was estimated to be 48.4%, whereas stenosed true lumen type was 24.2% and ulcer-like projection was 27.7%. The present study concluded that thrombosed type is not rare in acute aortic dissection and contrast-enhanced CT as well as pre-contrast CT, is of great value in diagnosing thrombosed type. 'Hyperdense crescent sign' in pre-contrast CT is characteristic of intramural hematoma. (author)

  12. Emergency Valve-in-Valve Transcatheter Aortic Valve Implantation for the Treatment of Acute Stentless Bioprosthetic Aortic Insufficiency and Cardiogenic Shock

    Directory of Open Access Journals (Sweden)

    Ivan D. Hanson

    2018-01-01

    Full Text Available Bioprosthetic aortic valve degeneration may present as acute, severe aortic regurgitation and cardiogenic shock. Such patients may be unsuitable for emergency valve replacement surgery due to excessive risk of operative mortality but could be treatable with transfemoral valve-in-valve transcatheter aortic valve implantation (TAVI. There is a paucity of data regarding the feasibility of valve-in-valve TAVI in patients presenting with cardiogenic shock due to acute aortic insufficiency from stentless bioprosthetic valve degeneration. We present one such case, highlighting the unique aspects of valve-in-valve TAVI for this challenging patient subset.

  13. Unoperated aortic aneurysm

    DEFF Research Database (Denmark)

    Perko, M J; Nørgaard, M; Herzog, T M

    1995-01-01

    From 1984 to 1993, 1,053 patients were admitted with aortic aneurysm (AA) and 170 (15%) were not operated on. The most frequent reason for nonoperative management was presumed technical inoperability. Survivals for patients with thoracic, thoracoabdominal, and abdominal AA were comparable. No sig...

  14. Double aortic arch

    Science.gov (United States)

    Surgery can be done to fix double aortic arch. The surgeon ties off the smaller branch and separates it from the larger branch. Then the surgeon closes the ends of the aorta with stitches. This relieves pressure on the esophagus and windpipe.

  15. Bicuspid aortic valve

    Science.gov (United States)

    ... females. A BAV often exists in babies with coarctation of the aorta (narrowing of the aorta). BAV is also seen ... to view the blood vessels of the heart Treatment ... to the heart and into the narrow opening of the aortic valve. A balloon attached to the end of ...

  16. Tissue engineered aortic valve

    OpenAIRE

    Dohmen, P M

    2012-01-01

    Several prostheses are available to replace degenerative diseased aortic valves with unique advantages and disadvantages. Bioprotheses show excellent hemodynamic behavior and low risk of thromboembolic complications, but are limited by tissue deterioration. Mechanical heart valves have extended durability, but permanent anticoagulation is mandatory. Tissue engineering created a new generation heart valve, which overcome limitations of biological and mechanical heart valves due to remodelling,...

  17. Blunt abdominal aortic injury: a Western Trauma Association multicenter study.

    Science.gov (United States)

    Shalhub, Sherene; Starnes, Benjamin W; Brenner, Megan L; Biffl, Walter L; Azizzadeh, Ali; Inaba, Kenji; Skiada, Dimitra; Zarzaur, Ben; Nawaf, Cayce; Eriksson, Evert A; Fakhry, Samir M; Paul, Jasmeet S; Kaups, Krista L; Ciesla, David J; Todd, S Rob; Seamon, Mark J; Capano-Wehrle, Lisa M; Jurkovich, Gregory J; Kozar, Rosemary A

    2014-12-01

    Blunt abdominal aortic injury (BAAI) is a rare injury. The objective of the current study was to examine the presentation and management of BAAI at a multi-institutional level. The Western Trauma Association Multi-Center Trials conducted a study of BAAI from 1996 to 2011. Data collected included demographics, injury mechanism, associated injuries, interventions, and complications. Of 392,315 blunt trauma patients, 113 (0.03%) presented with BAAI at 12 major trauma centers (67% male; median age, 38 years; range, 6-88; median Injury Severity Score [ISS], 34; range, 16-75). The leading cause of injury was motor vehicle collisions (60%). Hypotension was documented in 47% of the cases. The most commonly associated injuries were spine fractures (44%) and pneumothorax/hemothorax (42%). Solid organ, small bowel, and large bowel injuries occurred in 38%, 35%, and 28% respectively. BAAI presented as free aortic rupture (32%), pseudoaneurysm (16%), and injuries without aortic external contour abnormality on computed tomography such as large intimal flaps (34%) or intimal tears (18%). Open and endovascular repairs were undertaken as first-choice therapy in 43% and 15% of cases, respectively. Choice of management varied by type of BAAI: 89% of intimal tears were managed nonoperatively, and 96% of aortic ruptures were treated with open repair. Overall mortality was 39%, the majority (68%) occurring in the first 24 hours because of hemorrhage or cardiac arrest. The highest mortality was associated with Zone II aortic ruptures (92%). Follow-up was documented in 38% of live discharges. This is the largest BAAI series reported to date. BAAI presents as a spectrum of injury ranging from minimal aortic injury to aortic rupture. Nonoperative management is successful in uncomplicated cases without external aortic contour abnormality on computed tomography. Highest mortality occurred in free aortic ruptures, suggesting that alternative measures of early noncompressible torso hemorrhage

  18. Doppler Velocimetry of the Ductus Arteriosus in Normal Fetuses and Fetuses Suspected for Pulmonary Hypoplasia

    NARCIS (Netherlands)

    Gerards, F.A.; Twisk, J.W.R.; van Vugt, J.M.G.

    2009-01-01

    Objective: The purpose of this study was to determine whether the pulsatility index (PI) of the ductus arteriosus could predict the occurrence of pulmonary hypoplasia secondary to congenital disorders or complications during pregnancy. Sample and Methods: In this longitudinal study, 78 uncomplicated

  19. Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI

    Energy Technology Data Exchange (ETDEWEB)

    Katorza, Eldad; Nahama-Allouche, Catherine; Ducou le Pointe, Hubert; Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Service de Radiologie, Paris (France); Castaigne, Vanina [Hopital Saint-Antoine, Service de Gynecologie-Obstetrique, Paris (France); Gonzales, Marie; Marlin, Sandrine [Hopital d' Enfants Armand-Trousseau, Service de Genetique et Embryologie medicales, Paris (France); Galliani, Eva [Hopital d' Enfants Armand-Trousseau, Service de Chirurgie maxillo-faciale, Paris (France); Jouannic, Jean-Marie; Rosenblatt, Jonathan [Hopital d' Enfants Armand-Trousseau, Service de Gynecologie-Obstetrique, Centre pluridisciplinaire de diagnostic prenatal, Paris (France)

    2011-05-15

    Analysis of the middle ear with fetal MRI has not been previously reported. To show the contribution of fetal MRI to middle ear imaging. The tympanic cavity was evaluated in 108 fetal cerebral MRI examinations (facial and/or cerebral malformation excluded) and in two cases, one of Treacher Collins syndrome (case 1) and the other of oculo-auriculo-vertebral (OUV) spectrum (case 2) with middle ear hypoplasia identified by MRI at 27 and 36 weeks' gestation, respectively. In all 108 fetuses (mean gestational age 32.5 weeks), the tympanic cavity and T2 hypointensity related to the ossicles were well visualised on both sides. Case 1 had micro/retrognathia and bilateral external ear deformity and case 2 had retrognathism with a left low-set and deformed ear. MRI made it possible to recognize the marked hypoplasia of the tympanic cavity, which was bilateral in case 1 and unilateral in case 2. Both syndromes are characterized by craniofacial abnormalities including middle ear hypoplasia, which cannot be diagnosed with US. The middle ear cavity can be visualized with fetal MRI. We emphasize the use of this imaging modality in the diagnosis of middle ear hypoplasia. (orig.)

  20. CARTILAGE HAIR HYPOPLASIA, METAPHYSEAL CHONDRODYSPLASIA TYPE MCKUSICK - DESCRIPTION OF 7 PATIENTS AND REVIEW OF THE LITERATURE

    NARCIS (Netherlands)

    VANDERBURGT, [No Value; HARALDSSON, A; OOSTERWIJK, JC; VANESSEN, AJ; WEEMAES, C; HAMEL, B

    1991-01-01

    We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 non-Amish cases are summarized. In this autosomal recessive disorder the immunodeficiency, hair abnormalities, and severity of skeletal

  1. Growth hormone treatment in cartilage-hair hypoplasia: effects on growth and the immune system.

    NARCIS (Netherlands)

    Bocca, G.; Weemaes, C.M.R.; Burgt, C.J.A.M. van der; Otten, B.J.

    2004-01-01

    Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by metaphyseal chondrodysplasia with severe growth retardation and impaired immunity. We studied the effects of growth hormone treatment on growth parameters and the immune system in four children with CHH. The

  2. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

    Science.gov (United States)

    Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular, and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and fou...

  3. Unusual right ventricle aneurysm and dysplastic pulmonary valve with mitral valve hypoplasia

    Directory of Open Access Journals (Sweden)

    Ozge Pamukcu

    2013-01-01

    Full Text Available We report a newborn with an unusual combination of aneurysmally dilated thin-walled right ventricle with hypertrophy of the apical muscles of the right ventricle. There was narrow pulmonary annulus, pulmonary regurgitation, and hypoplasia of the mitral valve and left ventricle. We propose that this heart represents a partial form of Uhl`s anomaly.

  4. Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations

    NARCIS (Netherlands)

    Rudnik-Schöneborn, Sabine; Senderek, Jan; Jen, Joanna C.; Houge, Gunnar; Seeman, Pavel; Puchmajerová, Alena; Graul-Neumann, Luitgard; Seidel, Ulrich; Korinthenberg, Rudolf; Kirschner, Janbernd; Seeger, Jürgen; Ryan, Monique M.; Muntoni, Francesco; Steinlin, Maja; Sztriha, Laszlo; Colomer, Jaume; Hübner, Christoph; Brockmann, Knut; van Maldergem, Lionel; Schiff, Manuel; Holzinger, Andreas; Barth, Peter; Reardon, William; Yourshaw, Michael; Nelson, Stanley F.; Eggermann, Thomas; Zerres, Klaus

    2013-01-01

    Objectives: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients

  5. Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature

    NARCIS (Netherlands)

    Kääriäinen, H.; Barrow, M.; Hennekam, R.

    1993-01-01

    We report on 3 unrelated patients with a syndrome of sensorineural deafness (3/3), midface hypoplasia (3/3), disproportionate shortness with short limbs (3/3), cleft palate or bifid uvula (3/3), and lack of high myopia (3/3). This brings the number of reported patients with this condition to 11.

  6. Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

    NARCIS (Netherlands)

    Poulter, James A.; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M.; Sheridan, Eamonn; Carr, Ian M.; Parry, David A.; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I.; Webster, Andrew R.; Moore, Anthony T.; Pal, Bishwanath; Mohamed, Moin D.; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A.; Hewitt, Alex W.; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F.; Toomes, Carmel

    2013-01-01

    Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism

  7. Parvovirus associated cerebellar hypoplasia and hydrocephalus in day-old broiler chickens

    Science.gov (United States)

    Cerebellar hypoplasia and hydrocephalus were detected in day-old broiler chickens. Brains of chickens evaluated at necropsy appeared to be abnormal; some were disfigured and cerebellae appeared to be smaller than normal. Histopathologic examination of brains revealed cerebellar folia that were sho...

  8. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I

    Directory of Open Access Journals (Sweden)

    Rachna Rath

    2016-01-01

    Full Text Available Neurofibromatosis type 1 (NF1 is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. Orofacial manifestations in NF1 have been documented before but occurrence of multifocal intraosseous (IO and extraosseous (EO neurofibromas is rare. The present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with NF1. Apart from orthopantomograms (OPG, three-dimensional computed tomography (3D CT and cross-sectional reformations were valuable in delineating the extent of the lytic lesion and identifying additional bony deformities of the mandible. Magnetic resonance imaging (MRI helped to identify the solid nature of the lesion and true extent of the soft tissue mass.

  9. Abdominal Aortic Dissection with Acute Mesenteric Ischemia in a Patient with Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Chii-Shyan Lay

    2006-07-01

    Full Text Available Marfan syndrome is an autosomal dominant inherited disorder of connective tissue, with various complications manifested primarily in the cardiovascular system. It potentially leads to aortic dissection and rupture, these being the major causes of death. We report a patient who complained of acute abdominal pain, which presented as acute mesenteric ischemia combined with abdominal aortic dissection. Echocardiography showed enlargement of the aortic root and mitral valve prolapse. Abdominal computed tomography scan revealed acute mesenteric ischemia due to abdominal aortic dissection. Finally, the patient underwent surgery of aortic root replacement and had a successful outcome. Therefore, we suggest that for optimal risk assessment and monitoring of patients with Marfan syndrome, both aortic stiffness and the diameter of the superior mesenteric vein compared with that of the superior mesenteric artery are useful screening methods to detect acute mesenteric ischemia secondary to abdominal aortic dissection. Early diagnosis and early treatment can decrease the high mortality rate of patients with Marfan syndrome.

  10. Selective Aortic Arch and Root Replacement in Repair of Acute Type A Aortic Dissection.

    Science.gov (United States)

    Fleischman, Fernando; Elsayed, Ramsey S; Cohen, Robbin G; Tatum, James M; Kumar, S Ram; Kazerouni, Kayvan; Mack, Wendy J; Barr, Mark L; Cunningham, Mark J; Hackmann, Amy E; Baker, Craig J; Starnes, Vaughn A; Bowdish, Michael E

    2018-02-01

    Controversy exists regarding the optimal extent of repair for type A aortic dissection. Our approach is to replace the ascending aorta, and only replace the aortic root or arch when intimal tears are present in those areas. We examined intermediate outcomes with this approach to acute type A aortic dissection repair. Between March 2005 and October 2016, 195 patients underwent repair of acute type A aortic dissection. Repair was categorized by site of proximal and distal anastomosis and extent of repair. Mean follow-up was 31.0 ± 30.9 months. Kaplan-Meier analysis was used to assess survival. Multiple variable Cox proportional hazards modeling was utilized to identify factors associated with overall mortality. Overall survival was 85.1%, 83.9%, 79.1%, and 74.4% at 6, 12, 36, and 60 months, respectively. Eight patients required reintervention. The cumulative incidence of aortic reintervention at 1 year with death as a competing outcome was 3.95%. Multiple variable regression analysis identified factors such as age, preoperative renal failure, concomitant thoracic endograft, postoperative myocardial infarction and sepsis, and need for extracorporeal membrane oxygenation as predictive of overall mortality. Neither proximal or distal extent of repair, nor need for reintervention affected overall survival (proximal: hazard ratio 1.63, 95% confidence interval: 0.75 to 3.51, p = 0.22; distal: hazard ratio 1.12, 95% confidence interval: 0.43 to 2.97, p = 0.81; reintervention: hazard ratio 0.03, 95% confidence interval: 0.002 to 0.490, p < 0.01). A selective approach to root and arch repair in acute type A aortic dissection is safe. If aortic reintervention is needed, survival does not appear to be affected. Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  11. Percutaneous implantation of the first repositionable aortic valve prosthesis in a patient with severe aortic stenosis.

    Science.gov (United States)

    Buellesfeld, Lutz; Gerckens, Ulrich; Grube, Eberhard

    2008-04-01

    Percutaneous aortic valve replacement is a new less-invasive alternative for high-risk surgical candidates with aortic stenosis. However, the clinical experience is still limited, and the currently available 'first-generation devices' revealed technical shortcomings, such as lack of repositionability and presence of paravalvular leakages. We report the first-in-man experience with the new self-expanding Lotus Valve prosthesis composed of a nitinol frame with implemented bovine pericardial leaflets which is designed to address these issues, being repositionable and covered by a flexible membrane to seal paravalvular gaps. We implanted this prosthesis in a 93-year old patient presenting with severe symptomatic aortic stenosis (valve area: 0.6 cm(2)). Surgical valve replacement had been declined due to comorbidities. We used a retrograde approach for insertion of the 21-French Lotus catheter loaded with the valve prosthesis via surgical cut-down to the external iliac artery. Positioning of the valve was guided by transesophageal echo and supra-aortic angiograms. The prosthesis was successfully inserted and deployed within the calcified native valve. Echocardiography immediately after device deployment showed a significant reduction of the transaortic mean pressure gradient (32 to 9 mmHg; final valve area 1.7 cm(2)) without evidence of residual aortic regurgitation. The postprocedural clinical status improved from NYHA-IV to NYHA-II. These results remained unchanged up to the 3 month follow-up. Successful percutaneous aortic valve replacement can be performed using the new self-expanding and repositionable Lotus valve for treatment of high-risk patients with aortic valve stenosis. Further studies are mandatory to assess device safety and efficacy in larger patient populations. Copyright 2008 Wiley-Liss, Inc.

  12. Transesophageal echocardiographic guidance of transcatheter closure of the aortic valve in a patient with left ventricular assist device-related severe aortic regurgitation

    Directory of Open Access Journals (Sweden)

    Preetham R Muskala

    2017-04-01

    Full Text Available A 68-year-old man with a severe ischemic cardiomyopathy underwent left ventricular assist device (LVAD implantation (Heart Mate II device for destination therapy. He presented 49 months after LVAD implantation with worsening heart failure symptoms and new severe aortic regurgitation. Given high risk for both surgical and transcatheter aortic valve replacement, he was admitted for transcatheter closure of the aortic valve under transesophageal echocardiographic (TEE guidance. TEE imaging revealed severe aortic regurgitation (Fig. 1A and B and Videos 1 and 2. Under TEE and fluoroscopic guidance, a 25 mm Amplatzer cribriform atrial septal defect closure device was advanced across the aortic valve (Fig. 1C and D and Videos 3 and 4. Immediately after device deployment, TEE revealed a well-seated device with complete aortic valve closure and trivial aortic regurgitation (Fig. 2A, B, C and D and Videos 5, 6, 7 and 8. Subsequent transthoracic echocardiograms obtained from 74 to 172 days after the procedure revealed no residual aortic regurgitation. The patient awoke with diffuse urticaria 244 days after the procedure and died en route to the emergency department, presumably secondary to a systemic allergic reaction. De novo aortic regurgitation is increasingly recognized in patients with LVADs (1. TEE-guided transcatheter aortic valve closure is an option in these high-risk patients (2.

  13. Case of successful prosthetics of aortic arch in a patient with congenital deformation of aortic arch in severe hypothermia and circulatory arrest

    Directory of Open Access Journals (Sweden)

    Bokeria L.A.

    2014-09-01

    Full Text Available Atresia of the aortic arch is a rare congenital disease, often accompanied by congenital heart defects. Isolated atresia of the aorta is rare and usually has a complex deformation with multiple aneurysms, bending of the aorta and its branches. This anatomy complicates the exposure and makes surgery technically complicated with conventional approaches. The aim of the work is the presentation of a case of successful prosthetics of aortic arch and a 5-year observation of a patient with congenital deformation of the aortic arch in severe hypothermia and circulatory arrest. The article presents the variant of surgical tactics in treatment of patients with this form of atresia of aortic arch.

  14. Endovascular aortic repair: First twenty years

    Directory of Open Access Journals (Sweden)

    Končar Igor

    2012-01-01

    Full Text Available Endovascular aortic/aneurysm repair (EVAR was introduced into clinical practice at the beginning of the nineties. Its fast development had a great influence on clinicians, vascular surgeons and interventional radiologists, educational curriculums, patients, industry and medical insurance. The aim of this paper is to present the contribution of clinicians and industry to the development and advancement of endovascular aortic repair over the last 20 years. This review article presents the development of EVAR by focusing on the contribution of physicians, surgeons and interventional radiologists in the creation of the new field of vascular surgery termed hybrid vascular surgery, and also the contribution of technological advancement by a significant help of industrial representatives – engineers and their counselors. This article also analyzes studies conducted in order to compare the successfulness of EVAR with up-to-now applied open surgical repair of aortic aneurysms, and some treatment techniques of other aortic diseases. During the first two decades of its development the EVAR method was rapidly progressing and was adopted concurrently with the expansion of technology. Owing to large randomized studies, early and long-term results indicate specific complications of this method, thus influencing further technological improvement and defining risk patients groups in whom the use of the technique should be avoided. Good results are insured only in centers, specialized in vascular surgery, which have on their disposal adequate conditions for solving all complications associated with this method.

  15. Mitral-aortic annular enlargement: modification of Manouguian's technique

    Directory of Open Access Journals (Sweden)

    Costa Mario Gesteira

    2002-01-01

    Full Text Available We hereby present a technical modification for mitral-aortic annular enlargement. The mitral valve is replaced through the retro-septal approach, avoiding patches for left atrial roof closure. We report a mitral-aortic valve replacement in a patient whose original annuli would preclude adequate prostheses. The simultaneous annular enlargement may be necessary for avoiding patient-prosthesis mismatch and for reconstructing destroyed mitral and aortic annuli. The technique may minimize the risk of bleeding and of paravalvular leakage, using an approach well known to cardiac surgeons.

  16. Cauda equina syndrome: an uncommon symptom of aortic diseases.

    Science.gov (United States)

    He, Fuliang; Xing, Tong; Yu, Fang; Li, Hongchuan; Fang, Xiutong; Song, Hongxing

    2015-01-01

    In order to help diagnose and deal with the fetal aortic diseases in time, we retrospectively reviewed 8 patients who presented with cauda equina syndrome (CES) but actually suffered from low spinal nerve ischemia due to aortic diseases. 8 patients were initially diagnosed as CES. 7 patients were confirmed with aortic diseases. 1 patient was confirmed with aortic saddle embolism post emergent laminectomy. Relief of CES symptoms was evaluated during preoperation and follow-up period. 1 patient was diagnosed as aortic dissection and 5 patients as AAA. These 6 patients underwent endovascular aortic repair (EVAR). The CES was relieved in 5-10 d post procedure. The 7th patient was diagnosed with acute abdominal aortic occlusion and then underwent catheter directed thrombolysis with recombinant tissue plasminogen activator (rTPA) for 20 h and CES disappeared. The JOA scores of the 7 patients were recovered from preoperative 15.14±1.21 to 21.00±2.16 within 5-10 d (P<0.01), and evaluated to be 24.12±1.34, 25.88±1.21 and 26.29±1.11 at 3 m-, 6 m- and 12 m-follow-up point, respectively. The 8th patient was initially diagnosed as lumbar spinal stenosis and lumbar disc herniation. The patient underwent emergent vertebral canal decompression and presented with serious CES symptoms. CTA confirmed that the patient had been suffered from aortic saddle embolism (ASE). CES caused by abdominal aortic diseases is a special event with fetal consequences if it is not recognized and treated promptly. Orthopedists and neurosurgeons should pay attentions particularly to this issue to preserve the cauda equina functions to their maximums.

  17. Ascending Aortic Wall Cohesion: Comparison of Bicuspid and Tricuspid Valves

    Directory of Open Access Journals (Sweden)

    Jaroslav Benedik

    2012-01-01

    Full Text Available Objectives. Bicuspid aortic valve (AV represents the most common form of congenital AV malformation, which is frequently associated with pathologies of the ascending aorta. We compared the mechanical properties of the aortic wall between patients with bicuspid and tricuspid AV using a new custom-made device mimicking transversal aortic wall shear stress. Methods. Between 03/2010 and 07/2011, 190 consecutive patients undergoing open aortic valve replacement at our institution were prospectively enrolled, presenting either with a bicuspid (group 1, n=44 or a tricuspid (group 2, n=146 AV. Aortic wall specimen were examined with the “dissectometer” resulting in nine specific aortic-wall parameters derived from tensile strength curves (TSC. Results. Patients with a bicuspid AV showed significantly more calcified valves (43.2% versus 15.8%, P<0.001, and a significantly thinner aortic wall (2.04±0.42 mm versus 2.24±0.41 mm, P=0.008. Transesophageal echocardiography diameters (annulus, aortic sinuses, and sinotubular junction were significantly larger in the bicuspid group (P=0.003, P=0.02, P=0.01. We found no difference in the aortic wall cohesion between both groups as revealed by shear stress testing (P=0.72, P=0.40, P=0.41. Conclusion. We observed no differences of TSC in patients presenting with tricuspid or bicuspid AVs. These results may allow us to assume that the morphology of the AV and the pathology of the ascending aorta are independent.

  18. Computed tomography of aortic wall calcifications in aortic dissection patients.

    Directory of Open Access Journals (Sweden)

    Pim A de Jong

    Full Text Available To investigate the frequency of aortic calcifications at the outer edge of the false lumen and the frequency of fully circular aortic calcifications in a consecutive series of patients with aortic dissection who underwent contrast-enhanced CT.The study population compromised of 69 consecutive subjects aged 60 years and older with a contrast-enhanced CT scan demonstrating an aortic dissection. All CT scans were evaluated for the frequency of aortic calcifications at the outer edge of the false lumen and the frequency of fully circular aortic calcifications by two experienced observers. Between observer reliability was evaluated by using Cohen's Kappa. Differences between groups were tested using unpaired T test and Chi-square test.Presumed media calcifications were observed in 22 (32% patients of 60 years and older and were found more frequently in chronic aortic dissection (N = 12/23, 52% than in acute aortic dissection (N = 10/46, 22%.As the intima has been torn away by the aortic dissection it is highly likely that CT scans can visualize the calcifications in the tunica media of the aorta.

  19. Impact of the entry site on late outcome in acute Stanford type B aortic dissection†.

    Science.gov (United States)

    Kitamura, Tadashi; Torii, Shinzo; Oka, Norihiko; Horai, Tetsuya; Itatani, Keiichi; Yoshii, Takeshi; Nakamura, Yuki; Shibata, Miyuki; Tamura, Tomoki; Araki, Haruna; Matsunaga, Yoshikiyo; Sato, Hajime; Miyaji, Kagami

    2015-11-01

    This study aimed to investigate whether the entry site of acute type B aortic dissection affects late outcomes. Inpatient and outpatient records were retrospectively reviewed. We identified 224 cases of acute type B aortic dissection between 1998 and 2013. Of these 224 patients, 168 were men and the age was 64.2 ± 12.6 (range 23-94) years, from which 130 presented with the entry at a location downstream of the distal aortic arch, 67 with the entry at the outer curvature of the distal aortic arch and 27 with the entry at the inner curvature. At the initial presentation, 127 patients had descending false lumen thrombosis. The 30-day mortality rate was 2%, and 8% of patients had malperfusion. The entry at the outer curvature was associated with a higher risk of 30-day mortality. Patients with the entry at a location downstream were significantly older, and had a higher chance for primarily thrombosed descending false lumen and a lower risk of malperfusion. At follow-up (6.0 ± 4.1 years), the actuarial survival rates were 97, 83 and 60%, freedoms from open aortic surgery were 96, 91 and 86%, aortic intervention were 73, 66 and 63% and aortic events were 71, 60 and 52% at 1, 5 and 10 years, respectively. Multivariate logistic regression analysis revealed that the outer curvature entry and maximum aortic diameter were correlated with open aortic surgery, aortic intervention and aortic events. Of the 127 patients with primarily thrombosed false lumen, the outer curvature entry was significantly correlated with aortic events. The primary entry at the outer curvature of the distal aortic arch, as well as the large aortic diameter, is associated with a higher risk of late open aortic surgery, aortic intervention and aortic events in acute type B aortic dissection. Thus, the entry site should be taken into consideration in the establishment of an appropriate treatment indication of type B aortic dissection. © The Author 2015. Published by Oxford University Press on behalf

  20. [Pena-Shokeir syndrome type I--combination of polyhydramnios and pulmonary hypoplasia in fetal akinesia].

    Science.gov (United States)

    Deli, Tamás; Kovács, Tamás

    2010-06-13

    We present the case of an 18-year-old woman with her second pregnancy, whose first pregnancy was complicated by polyhydramnios. At week 30, the dysmorph fetus died in utero and was delivered via cesarean section due to placental abruption, but the exact diagnosis was not recognized at that time. During the patient's second pregnancy, increasing polyhydramnios was detected from the 19th gestational week. Ultrasound signs of fetal malformation also appeared later: abnormal position of limbs, narrow chest, oedema around the skull, and absence of stomach content. At week 34, decompression amniocentesis became necessary. Chromosome analysis was also carried out and a normal karyotype was obtained. At 39th gestational week, amnioscopy proved meconium staining of the amniotic fluid, thus labour was induced. Following amniotomy, sustained fetal bradycardia commenced and an emergency caesarean section was performed. Despite complex resuscitation, the 3000 gram male newborn died 2.5 hours after delivery, due to respiratory failure. Autopsy and histopathologic examination revealed a large, oedematous head, micrognathia, macroglossia, laryngeal oedema, narrow chest with pulmonary hypoplasia, gracile limbs with muscle atrophy, gracile and bent fingers, and a short umbilical cord. Based on the medical history, the course of the disease and the phenotype of the newborn, Pena-Shokeir syndrome type I was diagnosed. In the second part of the article, we review the etiology, pathogenesis, prenatal diagnosis and differential diagnosis of this syndrome, as well as some aspects of genetic counseling in such cases. To our knowledge, this is the first reported case of Pena-Shokeir syndrome in Hungary.

  1. Prevention of pulmonary hypoplasia and pulmonary vascular remodeling by antenatal simvastatin treatment in nitrofen-induced congenital diaphragmatic hernia

    Science.gov (United States)

    Makanga, Martine; Maruyama, Hidekazu; Dewachter, Celine; Da Costa, Agnès Mendes; Hupkens, Emeline; de Medina, Geoffrey; Naeije, Robert

    2015-01-01

    Congenital diaphragmatic hernia (CDH) has a high mortality rate mainly due to lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). Simvastatin has been shown to prevent the development of pulmonary hypertension (PH) in experimental models of PH. We, therefore, hypothesized that antenatal simvastatin would attenuate PPHN in nitrofen-induced CDH in rats. The efficacy of antenatal simvastatin was compared with antenatal sildenafil, which has already been shown to improve pathological features of PPHN in nitrofen-induced CDH. On embryonic day (E) 9.5, nitrofen or vehicle was administered to pregnant Sprague-Dawley rats. On E11, nitrofen-treated rats were randomly assigned to antenatal simvastatin (20 mg·kg−1·day−1 orally), antenatal sildenafil (100 mg·kg−1·day−1 orally), or placebo administration from E11 to E21. On E21, fetuses were delivered by cesarean section, killed, and checked for left-sided CDH. Lung tissue was then harvested for further pathobiological evaluation. In nitrofen-induced CDH, simvastatin failed to reduce the incidence of nitrofen-induced CDH in the offspring and to increase the body weight, but improved the lung-to-body weight ratio and lung parenchyma structure. Antenatal simvastatin restored the pulmonary vessel density and external diameter, and reduced the pulmonary arteriolar remodeling compared with nitrofen-induced CDH. This was associated with decreased lung expression of endothelin precursor, endothelin type A and B receptors, endothelial and inducible nitric oxide synthase, together with restored lung activation of apoptotic processes mainly in the epithelium. Antenatal simvastatin presented similar effects as antenatal therapy with sildenafil on nitrofen-induced CDH. Antenatal simvastatin improves pathological features of lung hypoplasia and PPHN in experimental nitrofen-induced CDH. PMID:25617377

  2. Painless Aortic Dissection—Diagnostic Dilemma With Fatal Outcomes: What Do We Learn?

    Directory of Open Access Journals (Sweden)

    Saeeda Fatima MD

    2017-07-01

    Full Text Available Aortic dissection is the most catastrophic clinical condition that involves the aorta. It has a high mortality as well as high rate of misdiagnosis due to frequent unusual presentation. Typically, it presents with acute chest, back, and tearing abdominal pain. However, it can present atypically with minimal or no pain, making diagnosis difficult. Physicians should always suspect acute aortic dissection in patients with certain clinical conditions like difficult-to-control hypertension, giant cell arteritis, bicuspid aortic valve, intracranial aneurysms, simple renal cysts, family history of aortic disease, and Marfan syndrome, especially when a patient presents with ischemic symptoms involving multiple organ without an obvious cause.

  3. Consumption coagulopathy in acute aortic dissection: principles of management.

    Science.gov (United States)

    Liu, Yuyong; Han, Lu; Li, Jiachen; Gong, Ming; Zhang, Hongjia; Guan, Xinliang

    2017-06-12

    The effect of acute aortic dissection itself on coagulopathy or surgery-related coagulopathy has never been specifically studied. The aim of the present study was to perioperatively describe consumption coagulopathy in patients with acute aortic dissection. Sixty-six patients with acute type A aortic dissection were enrolled in this study from January 2015 to September 2016. Thirty-six patients with thoracic aortic aneurysms were used as a control group during the same period. Consumption coagulopathy was evaluated using standard laboratory tests, enzyme-linked immunosorbent assay and thromboelastograghy at five perioperative time-points. A significant reduction in clotting factors and fibrinogen was observed at the onset of acute aortic dissection. Enzyme-linked immunosorbent assay and thromboelastograghy also revealed a persistent systemic activation of the coagulation system and the consumption of clotting factors. In contrast, although platelet counts were consistently low, we did not find that platelet function was more impaired in the acute aortic dissection group than the control group. After surgery, clotting factors and fibrinogen were more impaired than platelet function. Thus, we proposed that hemostatic therapy should focus on the rapid and sufficient supplementation of clotting factors and fibrinogen to improve consumption coagulopathy in patients with acute aortic dissection.

  4. Computational Fluid Dynamics and Aortic Thrombus Formation Following Thoracic Endovascular Aortic Repair.

    Science.gov (United States)

    Nauta, Foeke J H; Lau, Kevin D; Arthurs, Christopher J; Eagle, Kim A; Williams, David M; Trimarchi, Santi; Patel, Himanshu J; Figueroa, Carlos A

    2017-06-01

    We present the possible utility of computational fluid dynamics in the assessment of thrombus formation and virtual surgical planning illustrated in a patient with aortic thrombus in a kinked ascending aortic graft following thoracic endovascular aortic repair. A patient-specific three-dimensional model was built from computed tomography. Additionally, we modeled 3 virtual aortic interventions to assess their effect on thrombosis potential: (1) open surgical repair, (2) conformable endografting, and (3) single-branched endografting. Flow waveforms were extracted from echocardiography and used for the simulations. We used the computational index termed platelet activation potential (PLAP) representing accumulated shear rates of fluid particles within a fluid domain to assess thrombosis potential. The baseline model revealed high PLAP in the entire arch (119.8 ± 42.5), with significantly larger PLAP at the thrombus location (125.4 ± 41.2, p fluid dynamics may assist in the prediction of aortic thrombus formation in hemodynamically complex cases and help guide repair strategies. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  5. Acute Aortic Arch Perforation During Transcatheter Aortic Valve Replacement in Bicuspid Aortic Stenosis and a Gothic Aortic Arch.

    Science.gov (United States)

    Millan-Iturbe, Oscar; Sawaya, Fadi J; Bieliauskas, Gintautas; Chow, Danny H F; De Backer, Ole; Søndergaard, Lars

    2017-09-01

    Transcatheter aortic valve replacement (TAVR) has evolved from a novel technology to an established therapy for high/intermediate-risk patients with severe symptomatic aortic stenosis (AS). Although TAVR is used to treat bicuspid severe AS, the large randomized trials typically excluded bicuspid AS because of its unique anatomic features. This case report describes an acute aortic perforation during delivery of a transcatheter heart valve to treat a severe bicuspid AS with a "gothic aortic arch"; more careful evaluation of the preprocedural multislice computed tomographic scan would have unveiled a sharply angulated aortic arch. This life-threatening complication was successfully treated by thoracic endovascular aortic repair. Copyright © 2017 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  6. [Aortic debris in cerebrovascular ischemic disease].

    Science.gov (United States)

    Curatolo, L M; Melcón, C M; Lourido, M A; Torres-Lynch, M F; Parisi, V L; Fernández, G G; Rubachin, S; Hernández, G; Rotta-Escalante, R

    The aortic atherosclerotic debris is considered a high risk embolic source, being an independent predictor for cerebrovascular ischemia. The incidence is higher in the elderly and in patients with coronary artery disease. Transesophageal echocardiogram (TEE) is an important diagnostic tool that allows its detection. To describe characteristics of patients with ischemic stroke and echocardiographic diagnosis of aortic debris. We analyzed the group of patients with debris diagnosis in 209 TEE performed between 01/01/99 and 31/05/02, in 835 consecutive ischemic events. The information was collected from the Stroke Database of the Neurology Department of Policlinica Bancaria. TEE was accomplished in 25% of all assisted events. The mean age was 66.56 years (SD 11.22). In 30 studies (14%) aortic debris was detected. In this group of patients, 26 men and 4 women, was also found: plaques grade IV 60%, left atrial dilatation 40% and spontaneous echo contrast 20%. The most frequent risk factors were hypertension, dislipemia and smoking, with no significative difference compared to the group without debris. 40% had a prior cerebrovascular event. They presented with clinical subtype LACI 53%, PACI 27%, POCI 17%. 63% of patients had lacunar infarct (53% anterior and 10% posterior). The contribution of TTE for detection of embolic sources is relevant. A high percentage of the population with echocardiographic diagnosis of aortic debris, had a lacunar infarct, defined radiologically and by clinical features.

  7. The accuracy of clinical parameters in the prediction of perinatal pulmonary hypoplasia secondary to midtrimester prelabour rupture of fetal membranes: a meta-analysis.

    Science.gov (United States)

    van Teeffelen, Augustinus S P; van der Ham, David P; Oei, Swan G; Porath, Martina M; Willekes, Christine; Mol, Ben W J

    2010-01-01

    Prediction of pulmonary hypoplasia after midtrimester preterm prelabour rupture of membranes (PPROM) is important for optimal management. We performed a systematic review to assess the capacity of clinical parameters to predict pulmonary hypoplasia. A systematic literature search in EMBASE and MEDLINE was performed to identify articles published on pulmonary hypoplasia in relation to midtrimester PPROM. Articles were selected when they reported on one of the following clinical parameters - gestational age at PPROM, latency period and degree of oligohydramnios - and when they allowed the construction of a two-by-two table comparing at least one of three clinical parameters to the occurrence of pulmonary hypoplasia. The selected studies were scored on methodological quality, and sensitivity and specificity of the tests in the prediction of pulmonary hypoplasia and lethal pulmonary hypoplasia were calculated. Overall performance was assessed by summary receiver operating characteristic (sROC) curves that were constructed with bivariate meta-analysis. We detected 28 studies that reported on the prediction of pulmonary hypoplasia. Prediction of lethal pulmonary hypoplasia could be analysed separately in 21 of these studies. The quality of the included studies was poor. The estimated sROC-curves showed that gestational age at PPROM performed significantly better than the two other parameters in the prediction of pulmonary hypoplasia. The accuracy in the prediction of lethal pulmonary hypoplasia was similar. In women with midtrimester PPROM, pulmonary hypoplasia can be predicted from the gestational age at PPROM. This information should be used in the management of women with early PPROM.

  8. IDIOPATHIC NEONATAL AORTIC ARCH THROMBOSIS: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ignazio Lofù

    2014-04-01

    Full Text Available Background: Neonatal aortic arch thrombosis is a rare but life threatening condition. A correct diagnosis and an appropriate therapeutic approach are fundamental to prevent death or severe injuries. Case presentation: we report a case of spontaneous aortic arch thrombosis in a term newborn, who presented with suggestive signs of aortic coarctation immediately after birth. Despite the initiation of anticoagulant therapy, a massive increase in size of thrombus with evidence of coronary involvement was noted. Thrombolytic treatment was performed with thrombus resolution. Death occurred after a few days due to widespread brain haemorrhage. Conclusion: To date, no definitive guidelines have been published for the treatment of neonatal aortic arch thrombosis, and only anecdotal reports are available. A multidisciplinary approach is fundamental in order to evaluate the risk:benefit ratio of proposed medical and surgical interventions. Further studies are needed to improve consensus evidence based guidelines and ensure appropriate approaches to this condition.

  9. Aortic Endograft Infection by Pasteurella multocida: A Rare Case.

    Science.gov (United States)

    Jayakrishnan, Thejus T; Keyashian, Brian; Amene, Juliet; Malinowski, Michael

    2016-08-01

    Infection of an aortic endograft is a rare complication following endovascular aneurysm repair. These patients have been treated with explantation of the graft to obtain source control followed by an extra-anatomic bypass to restore circulation. The present case study describes an interesting case of Pasteurella infection involving an aortic endograft managed nonoperatively by percutaneous drainage and graft preservation. © The Author(s) 2016.

  10. Endovascular Treatment for Pseudoaneurysms after Surgical Correction of Aortic Coarctation

    Directory of Open Access Journals (Sweden)

    M. Rabellino

    2011-01-01

    Full Text Available Late complications after surgical repair of aortic coarctation are not uncommon. Among these complications pseudoaneurysms are the most frequent complications, occurring between 3 and 38%. Reoperation in these patients is associated with high morbidity and mortality. In the last decade, endovascular techniques emerged as an alternative to conventional surgery with excellent results. We report the case of two patients who presented with pseudoaneurysms after surgical correction for aortic coarctation, which were treated by endovascular means.

  11. Endovascular Treatment for Pseudoaneurysms after Surgical Correction of Aortic Coarctation

    OpenAIRE

    Rabellino, M.; Zander, T.; González, G.; Baldi, S.; Cheves, H.; Estigarribia, A.; Llorens, R.; Carreira, J. M.; Maynar, M.

    2011-01-01

    Late complications after surgical repair of aortic coarctation are not uncommon. Among these complications pseudoaneurysms are the most frequent complications, occurring between 3 and 38%. Reoperation in these patients is associated with high morbidity and mortality. In the last decade, endovascular techniques emerged as an alternative to conventional surgery with excellent results. We report the case of two patients who presented with pseudoaneurysms after surgical correction for aortic coar...

  12. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

    NARCIS (Netherlands)

    Ridanpaa, M; Eenennaam, H. van; Pelin, K.; Chadwick, R.; Johnson, C; Yuan, B.; Venrooij, W.J.W. van; Pruijn, G.J.M.; Salmela, R.; Rockas, S.; Makitie, O.; Tollervey, D.; Chapelle, A. dela

    2001-01-01

    The recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH) is highly pleiotropic with manifestations including short stature, defective cellular immunity, and predisposition to several cancers. The endoribonuclease RNase MRP consists of an RNA molecule bound to several

  13. Patient-Reported Esthetic and Functional Outcomes of Primary Total Laparoscopic Intestinal Vaginoplasty in Transgender Women With Penoscrotal Hypoplasia

    NARCIS (Netherlands)

    Bouman, M.B.; Sluis, W.B. van der; Woudenberg Hamstra, L.E. van; Buncamper, M.E.; Kreukels, B.P.; Meijerink, W.J.H.J.; Mullender, M.G.

    2016-01-01

    INTRODUCTION: Puberty-suppressing hormonal treatment may result in penoscrotal hypoplasia in transgender women, making standard penile inversion vaginoplasty not feasible. For these patients, intestinal vaginoplasty is a surgical alternative, but knowledge on patient-reported postoperative outcomes

  14. MRI and three dimensional ultrasonography in the assessment of pulmonary hypoplasia in fetuses with urinary tract anomalies

    Directory of Open Access Journals (Sweden)

    Mariam Raafat

    2016-12-01

    Conclusion: There is a good concordance between 3D-US and MRI in the evaluation of PH in fetuses with UTM. MRI could be reserved for borderline cases of pulmonary hypoplasia and the difficult diagnostic situations.

  15. Turner′s hypoplasia and non-vitality: A case report of sequelae in permanent tooth

    Directory of Open Access Journals (Sweden)

    P R Geetha Priya

    2010-01-01

    Full Text Available Hypoplasia is the result of disruption in the process of enamel matrix formation, which in turn causes defect in quality and thickness of enamel. Four cases of Turner′s hypoplastic teeth with a previous history of trauma/infection in their primary predecessors at the age of 2-3 years have been reported. These hypoplastic teeth had turned non-vital without any carious insult, cavitation or further trauma. This article thereby stresses the importance of early detection of enamel hypoplasia and proper management at the earliest possible stage to enable an efficient prevention from clinically non-evident microbial invasion in the dentinal tubules and concomitant pulp pathosis.

  16. Aortic root and proximal aortic arch replacement (performed by a left-handed surgeon).

    Science.gov (United States)

    Carrel, Thierry

    2017-01-01

    We present our standard technique of composite graft replacement performed by a left-handed surgeon. This procedure is performed with a 30-day mortality comparable to that of elective isolated aortic valve replacement. © The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  17. Mechanisms of recurrent aortic regurgitation after aortic valve repair: predictive value of intraoperative transesophageal echocardiography.

    Science.gov (United States)

    le Polain de Waroux, Jean-Benoît; Pouleur, Anne-Catherine; Robert, Annie; Pasquet, Agnès; Gerber, Bernhard L; Noirhomme, Philippe; El Khoury, Gébrine; Vanoverschelde, Jean-Louis J

    2009-08-01

    The aim of the present study was to examine the intraoperative echocardiographic features associated with recurrent severe aortic regurgitation (AR) after an aortic valve repair surgery. Surgical valve repair for AR has significant advantages over valve replacement, but little is known about the predictors and mechanisms of its failure. We blindly reviewed all clinical, pre-operative, intraoperative, and follow-up transesophageal echocardiographic data of 186 consecutive patients who underwent valve repair for AR during a 10-year period and in whom intraoperative and follow-up echo data were available. After a median follow-up duration of 18 months, 41 patients had recurrent 3+ AR, 23 patients presented with residual 1+ to 2+ AR, and 122 had no or trivial AR. In patients with recurrent 3+ AR, the cause of recurrent AR was the rupture of a pericardial patch in 3 patients, a residual cusp prolapse in 26 patients, a restrictive cusp motion in 9 patients, an aortic dissection in 2 patients, and an infective endocarditis in 1 patient. Pre-operatively, all 3 groups were similar for aortic root dimensions and prevalence of bicuspid valve (overall 37%). Patients with recurrent AR were more likely to display Marfan syndrome or type 3 dysfunction pre-operatively. At the opposite end, patients with continent AR repair at follow-up were more likely to have type 2 dysfunction pre-operatively. After cardiopulmonary bypass, a shorter coaptation length, the degree of cusp billowing, a lower level of coaptation (relative to the annulus), a larger diameter of the aortic annulus and the sino-tubular junction, the presence of a residual AR, and the width of its vena contracta were associated with the presence of AR at follow-up. Multivariate Cox analysis identified a shorter coaptation length (odds ratio [OR]: 0.8, p = 0.05), a coaptation occurring below the level of the aortic annulus (OR: 7.9, p < 0.01), a larger aortic annulus (OR: 1.2, p = 0.01), and residual aortic regurgitation

  18. Initial experience with the treatment of concomitant aortic pseudoaneurysm and thoracolumbar spinal fracture: Case report

    Directory of Open Access Journals (Sweden)

    Viktor Zsolt Kovari

    2017-12-01

    Full Text Available One blunt abdominal aortic disruption (BAAD and one blunt thoracic aortic injury (BTAI case are presented. Both aortic injuries were combined with spinal fractures. In the BAAD case the aortic pseudoaneurysm manifested just above the lumbar fracture while in the BTAI case the aortic injury appeared several vertebras below the thoracal fracture site, suggesting different mechanisms in the aortic wall damage. In both cases the aortic wall first was sealed, successfully, by endovascularly-placed stents, meaning the risks of open aortic reconstructive surgery could be avoided. The adjacent crucial vessel's preservation, despite the stent covering the left subclavian artery and the left common carotid artery in one of the cases was verified by post-operative computed tomography angiography (CTA examination. In second stage those spinal fractures which were deemed unstable were stabilized by the fixateur interne (a transpedicular screw-rod system. With this treatment sequence we wanted to avoid the unnecessary risk of a possible rupture of the unsealed aortic wall during positioning for the spinal procedure and during the spinal surgery. Both patients recovered from their aortic and spinal injuries.

  19. Acute Traumatic Aortic Disruption and Right Aortic Arch: A Fatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Shirvan Salaminia

    2016-09-01

    Full Text Available Acute traumatic aortic disruption occurs after forceful deceleration and usually due to motor accidents. Only 10 % to 15 % reach a treatment facility alive and a highly suspicious state is needed for timely diagnosis. Most time they suffer multiple associated lethal injuries. Asymptomatic and isolated right aortic arch is a rare anomaly of the aorta with a prevalence of 0.5% [3]. Its diagnosis is by radiologic studies. We present this patient to remember that the incidental right aortic arch and disruption may interpreted as the left side mediastinal rotation in radiography and so inadvertently lead to late diagnosis and a futile outcome. A 24-year old man was brought to emergency room following a motor accident. He had Glascow Coma Scale Score: 14-15/15 but with stable vital signs. After primary survey chest radiography, emergency abdominal sonography (eFAST and brain CT scanning were requested. Spiral thoracoabdominal CT was also requested about seven hours after admission and when the patient entered an unstable hemodynamic phase. The primary survey was unremarkable. His chest radiography had left mediastinal rotation, which is opposite to what is seen pathologically in the condition of the traumatic aortic disruption, the right mediastinal rotation. His eFAST and brain CT were normal. The patient remained stable until seven hours after admission when the patient becomes unstable. Massive pleural effusion with aortic disruption and a right aortic arch was seen in thoracoabdominal CT. He transferred to the operation room but arrested during transfer. Massive hemothorax was seen during open cardiac massage. Cardiopulmonary resuscitation was unsuccessful. This may raises that in any blunt trauma patient with highly suspicious history for the great vessel injury, it may be better to consider the spiral chest CT scanning as the primary radiologic test for evaluation of the chest trauma and not waste the time or resources with rely simply on a

  20. Giant Dissecting Aortic Aneurysm in an Asymptomatic Young Male

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    Priyank Shah

    2015-01-01

    Full Text Available Giant aortic aneurysm is defined as aneurysm in the aorta greater than 10 cm in diameter. It is a rare finding since most patients will present with complications of dissection or rupture before the size of aneurysm reaches that magnitude. Etiological factors include atherosclerosis, Marfan’s syndrome, giant cell arteritis, tuberculosis, syphilis, HIV-associated vasculitis, hereditary hemorrhagic telangiectasia, and medial agenesis. Once diagnosed, prompt surgical intervention is the treatment of choice. Although asymptomatic unruptured giant aortic aneurysm has been reported in the literature, there has not been any case of asymptomatic giant dissecting aortic aneurysm reported in the literature thus far. We report a case of giant dissecting ascending aortic aneurysm in an asymptomatic young male who was referred to our institution for abnormal findings on physical exam.

  1. Prosthetic aortic arch replacement. A new experimental technique.

    Science.gov (United States)

    Brodman, R F; Estner, S; Passik, C; Goldman, M

    1990-01-01

    An experimental method for rapid replacement of the transverse aortic arch is presented. Branched intraluminal prostheses were fashioned of varying sizes containing ascending and descending aortic limbs and branches for the brachiocephalic and subclavian vessels. Rigid rings were sewn into the ends to allow rapid fixation of the grafts using extraluminal ligatures. In 31 dogs, arch prostheses were inserted using inflow occlusion at normothermia. Twenty-seven animals successfully underwent aortic arch replacement during periods of circulatory arrest from 2.5 to 6.5 minutes. One animal was electively sacrificed 3 years after arch replacement. Various sized aortic arch prostheses manufactured for clinical use would have the potential advantages of technical simplicity of insertion and reduced cardiopulmonary bypass. Alternatively, varying sized tubular grafts for the brachiocephalic branches could be attached to the currently available tubular intraluminal grafts.

  2. Pineal Hypoplasia, Reduced Melatonin, and Sleep Disturbance in Patients with PAX6 Haploinsufficiency

    OpenAIRE

    Hanish, Alyson E.; Butman, John A.; Thomas, Francine; Yao, Jianhua; Han, Joan C.

    2016-01-01

    In rodent studies, paired box 6 (PAX6) appears to play an important role in the development of the pineal, the primary source of the circadian regulating hormone, melatonin. Pineal hypoplasia has been previously reported in patients with PAX6 haploinsufficiency (+/−); however, pineal measurement, melatonin concentrations and sleep quality have not been reported. This cross-sectional descriptive study examined pineal volume, melatonin secretion, and sleep disturbance in 37 patients with PAX6+/...

  3. [A rare cause of exertional dry cough: agenesis of the left pulmonary artery associated with pulmonary hypoplasia].

    Science.gov (United States)

    Laaraje, Azzeddine; El Hafidi, Naima; Mahraoui, Chafik

    2017-01-01

    Agenesis of the left pulmonary artery associated with hypoplasia of the ipsilateral lung is a rare congenital malformation in children; it can be discovered fortuitously or because of the presence of recurrent respiratory infections. Diagnosis is based on thoracic angioscanner. Treatment is essentially conservative. We report the case of a 6-year old child with agenesis of the left pulmonary artery associated with hypoplasia of the ipsilateral lung detected because of exertional dry cough.

  4. Prune belly syndrome with urethral hypoplasia and vesico-cutaneous fistula: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Osama M Sarhan

    2013-01-01

    Full Text Available Association between Prune belly syndrome (PBS and urethral hypoplasia is an unusual condition. It is usually fatal unless there is a communication between the fetal bladder and the amniotic sac. We report a case of PBS with urethral hypoplasia and congenital vesico-cutaneous fistula in a male neonate. Patient underwent cutaneous vesicostomy and was discharged for close follow up of his renal function and for future reconstruction.

  5. Prune belly syndrome with urethral hypoplasia and vesico-cutaneous fistula: A case report and review of literature.

    Science.gov (United States)

    Sarhan, Osama M; Al-Ghanbar, Mustafa S; Nakshabandi, Ziad M

    2013-10-01

    Association between Prune belly syndrome (PBS) and urethral hypoplasia is an unusual condition. It is usually fatal unless there is a communication between the fetal bladder and the amniotic sac. We report a case of PBS with urethral hypoplasia and congenital vesico-cutaneous fistula in a male neonate. Patient underwent cutaneous vesicostomy and was discharged for close follow up of his renal function and for future reconstruction.

  6. Acute Aortic Arch Perforation During Transcatheter Aortic Valve Replacement in Bicuspid Aortic Stenosis and a Gothic Aortic Arch

    DEFF Research Database (Denmark)

    Millan-Iturbe, Oscar; Sawaya, Fadi J.; Bieliauskas, Gintautas

    2017-01-01

    AS because of its unique anatomic features. This case report describes an acute aortic perforation during delivery of a transcatheter heart valve to treat a severe bicuspid AS with a “gothic aortic arch”; more careful evaluation of the preprocedural multislice computed tomographic scan would have unveiled...

  7. Exploring the relationship between hypoplasia and odontometric asymmetry in Isola Sacra, an imperial Roman necropolis.

    Science.gov (United States)

    Hoover, Kara C; Corruccini, Robert S; Bondioli, Luca; Macchiarelli, Roberto

    2005-01-01

    Anthropological studies reporting odontometric asymmetry values or dental enamel hypoplasia frequencies use these markers as a record of physiological perturbations occurring during dental development. While both markers indirectly suggest the amount of relative stress a population might have experienced, a relationship between the two has been explored only recently in the literature. In this study, we address the possibility of such a relationship in two ways. First, Kendall's tau B correlations test the degree of relationship on the level of the individual between hypoplasia presence/absence (P/A) and severity of hypoplasia appearance (PS) data for the anterior dentition and directional (DA) and fluctuating asymmetry (FA) data for concurrently developing molars pairs. Second, an F-test explores between-group (ranked hypoplastic individuals and non-hypoplastic individuals) variance about the mean, expecting the hypoplastic individuals to be more variable. The sample consists of 72 individuals from the Isola Sacra necropolis, which is associated with Portus, the port city of ancient Rome. Results indicated only a very weak predictive relationship between some variables and few significant differences in variation. However, variance follows trends in published literature. Possible explanations for the lack of interaction on the level of the individual include both etiological and genetic susceptibility factors that are significant in and of themselves as they suggest a more complex reading of the hard tissue evidence for stress in archaeological populations. Copyright 2005 Wiley-Liss, Inc

  8. Lateral incisor agenesis predicts maxillary hypoplasia and Le Fort I advancement surgery in cleft patients.

    Science.gov (United States)

    Lai, Li Han; Hui, Brian K; Nguyen, Phuong D; Yee, Kristen S; Martz, Martin G; Bradley, James P; Lee, Justine C

    2015-01-01

    Severe maxillary hypoplasia in cleft patients is caused by a combination of pathogenic and iatrogenic factors. In this work, the authors investigated anatomical deficiencies in dentition for predicting Le Fort I maxillary advancement surgery for severe maxillary hypoplasia in cleft patients. Cleft lip-cleft palate and cleft palate patients older than 14 years of age were reviewed for demographics, dental anomalies, and Le Fort I advancement. Chi-square tests, t tests, and multivariate logistic regression analyses were performed to delineate the contribution of quantity and position of dental agenesis to maxillary advancement surgery. In the 114 patients reviewed (mean age, 19.2 years), 64.0 percent were male patients, 71.9 percent had dental agenesis, and 59.6 percent required Le Fort I advancement. In patients who did not exhibit dental agenesis, 18.8 percent required Le Fort I advancement compared with 74.4 percent of patients with dental agenesis (p agenesis was at the lateral incisor position (p agenesis is an independent predictor for Le Fort I advancement surgery (OR, 4.4; 95 percent CI, 1.42 to 13.64; p = 0.01). Lateral incisor agenesis correlated to maxillary hypoplasia and independently predicted the need for Le Fort I advancement in cleft patients, potentially as an anatomical readout of intrinsic growth deficiency. Risk, III.

  9. Gross enamel hypoplasia in molars from subadults in a 16th-18th century London graveyard.

    Science.gov (United States)

    Ogden, A R; Pinhasi, R; White, W J

    2007-07-01

    Dental Enamel Hypoplasia has long been used as a common nonspecific stress indicator in teeth from archaeological samples. Most researchers report relatively minor linear and pitted hypoplastic defects on tooth crown surfaces. In this work we report a high prevalence and early age of onset of extensive enamel defects in deciduous and permanent molars in the subadults from the post-medieval cemetery of Broadgate, east central London. Analysis of the dentition of all 45 subadults from the cemetery, using both macroscopic and microscopic methods, reveals disturbed cusp patterns and pitted, abnormal and arrested enamel formation. Forty-one individuals from this group (93.2%) showed some evidence of enamel hypoplasia, 28 of them showing moderate or extensive lesions of molars, deciduous or permanent (63.6% of the sample). Scanning Electron Microscope images reveal many molars with grossly deformed cuspal architecture, multiple extra cusps and large areas of exposed Tomes' process pits, where the ameloblasts have abruptly ceased matrix production, well before normal completion. This indented, rough and poorly mineralized surface facilitates both bacterial adhesion and tooth wear, and when such teeth erupt fully into the mouth they are likely to wear and decay rapidly. We suggest that this complex combination of pitted and plane-form lesions, combined with disruption of cusp pattern and the formation of multiple small cusps, should henceforth be identified as "Cuspal Enamel Hypoplasia." (c) 2007 Wiley-Liss, Inc.

  10. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    Science.gov (United States)

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma.

  11. Acute Type II Aortic Dissection with Severe Aortic Regurgitation and Chronic Descending Aortic Dissection in Pregnant Patient with Marfan Syndrome.

    Science.gov (United States)

    Lee, Seok-Soo; Jung, Tae-Eun; Lee, Dong Hyup

    2012-12-01

    Aortic dilatation and dissection are severe complications during pregnancy that can be fatal to both the mother and the fetus. The risks of these complications are especially high in pregnant patients with Marfan syndrome; however, incidents of descending aortic dissection are very rare. This case report involves a successful Bentall procedure for and recovery from a rare aortic dissection in a pregnant Marfan patient who developed acute type II aortic dissection with severe aortic regurgitation and chronic descending aortic dissection immediately after Cesarean section. Regular follow-up will be needed to monitor the descending aortic dissection.

  12. Primary congenital abdominal aortic aneurysm: a case report with perinatal serial follow-up imaging

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung Im; Lee, Whal; Chung, Jin Wook; Park, Jae Hyung [Seoul National University College of Medicine, Seoul National University Hospital, Department of Radiology, Seoul (Korea); Kim, Sang Joon [Seoul National University College of Medicine, Seoul National University Hospital, Department of Surgery, Seoul (Korea); Seo, Jeong-Wook [Seoul National University College of Medicine, Seoul National University Hospital, Department of Pathology, Seoul (Korea)

    2008-11-15

    Abdominal aortic aneurysms in neonates and infants are rare and are usually associated with infection, vasculitis, connective tissue disorder, or iatrogenic trauma such as umbilical catheterization. An idiopathic congenital abdominal aortic aneurysm is the least common category and there are few descriptions of the imaging features. We present the antenatal and postnatal imaging findings of an idiopathic congenital abdominal aortic aneurysm including the findings on US, MRI and CT. (orig.)

  13. Minimally invasive aortic valve replacement

    DEFF Research Database (Denmark)

    Foghsgaard, Signe; Schmidt, Thomas Andersen; Kjaergard, Henrik K

    2009-01-01

    In this descriptive prospective study, we evaluate the outcomes of surgery in 98 patients who were scheduled to undergo minimally invasive aortic valve replacement. These patients were compared with a group of 50 patients who underwent scheduled aortic valve replacement through a full sternotomy...... operations were completed as mini-sternotomies, 4 died later of noncardiac causes. The aortic cross-clamp and perfusion times were significantly different across all groups (P replacement...... is an excellent operation in selected patients, but its true advantages over conventional aortic valve replacement (other than a smaller scar) await evaluation by means of randomized clinical trial. The "extended mini-aortic valve replacement" operation, on the other hand, is a risky procedure that should...

  14. Posttraumatic abdominal aortic dissection

    International Nuclear Information System (INIS)

    Hahmann, M.; Richter, G.M.; Kauffmann, G.W.; Schuhmacher, H.; Allenberg, J.R.

    2001-01-01

    Dissections due to deceleration trauma are rarely limited to the infradiaphragmal aorta (only 2-3%) and are usually lethal. Here we report the unusual course of an abdominal aortic dissection with aneurysmatic enlargement of the false lumen. Based on diagnostic imaging, a therapeutic stent application was planed in order to close the entry and to prevent rupture. During the intervention sondation of the false lumen revealed that the left renal artery had a reentry. Due to the complexity of the entry - reentry situation of the left renal artery the intervention was not possible, and the patient had to undergo vascular surgery. (orig.) [de

  15. Abdominal aortic aneurysm surgery

    DEFF Research Database (Denmark)

    Gefke, K; Schroeder, T V; Thisted, B

    1994-01-01

    The goal of this study was to identify patients who need longer care in the ICU (more than 48 hours) following abdominal aortic aneurysm (AAA) surgery and to evaluate the influence of perioperative complications on short- and long-term survival and quality of life. AAA surgery was performed in 553......, 78% stated that their quality of life had improved or was unchanged after surgery and had resumed working. These data justify a therapeutically aggressive approach, including ICU therapy following AAA surgery, despite failure of one or more organ systems....

  16. Acute Type II Aortic Dissection with Severe Aortic Regurgitation and Chronic Descending Aortic Dissection in Pregnant Patient with Marfan Syndrome

    OpenAIRE

    Lee, Seok-Soo; Jung, Tae-Eun; Lee, Dong Hyup

    2012-01-01

    Aortic dilatation and dissection are severe complications during pregnancy that can be fatal to both the mother and the fetus. The risks of these complications are especially high in pregnant patients with Marfan syndrome; however, incidents of descending aortic dissection are very rare. This case report involves a successful Bentall procedure for and recovery from a rare aortic dissection in a pregnant Marfan patient who developed acute type II aortic dissection with severe aortic regurgitat...

  17. Valve-sparing aortic root replacement and aortic valve repair in a patient with acromegaly and aortic root dilatation

    Directory of Open Access Journals (Sweden)

    Karel Van Praet

    2015-07-01

    Full Text Available Aortic regurgitation and dilatation of the aortic root and ascending aorta are severe complications of acromegaly. The current trend for management of an aortic root aneurysm is valve-sparing root replacement as well as restoring the diameter of the aortic sinotubular junction (STJ and annulus. Our case report supports the recommendation that in patients with acromegaly, severe aortic root involvement may indicate the need for surgery.

  18. Enamel hypoplasia in the deciduous teeth of great apes: variation in prevalence and timing of defects.

    Science.gov (United States)

    Lukacs, J R

    2001-11-01

    The prevalence of enamel hypoplasia in the deciduous teeth of great apes has the potential to reveal episodes of physiological stress in early stages of ontogenetic development. However, little is known about enamel defects of deciduous teeth in great apes. Unresolved questions addressed in this study are: Do hypoplastic enamel defects occur with equal frequency in different groups of great apes? Are enamel hypoplasias more prevalent in the deciduous teeth of male or female apes? During what phase of dental development do enamel defects tend to form? And, what part of the dental crown is most commonly affected? To answer these questions, infant and juvenile skulls of two sympatric genera of great apes (Gorilla and Pan) were examined for dental enamel hypoplasias. Specimens from the Powell-Cotton Museum (Quex Park, UK; n = 107) are reported here, and compared with prior findings based on my examination of juvenile apes at the Cleveland Museum of Natural History (Hamman-Todd Collection; n = 100) and Smithsonian Institution (National Museum of Natural History; n = 36). All deciduous teeth were examined by the author with a x10 hand lens, in oblique incandescent light. Defects were classified using Fédération Dentaire International (FDI)/Defects of Dental Enamel (DDE) standards; defect size and location on the tooth crown were measured and marked on dental outline charts. Enamel defects of ape deciduous teeth are most common on the labial surface of canine teeth. While deciduous incisor and molar teeth consistently exhibit similar defects with prevalences of approximately 10%, canines average between 70-75%. Position of enamel defects on the canine crown was analyzed by dividing it into three zones (apical, middle, and cervical) and calculating defect prevalence by zone. Among gorillas, enamel hypoplasia prevalence increases progressively from the apical zone (low) to the middle zone to the cervical zone (highest), in both maxillary and mandibular canine teeth

  19. New paradigms in the management of acute type B aortic dissection.

    Science.gov (United States)

    Parisi, Rosario; Secco, Gioel Gabrio; Fattori, Rossella

    2015-11-01

    Type B aortic dissection is a relatively uncommon and multifaceted disease, whose management is ongoing debated. Its wide range of clinical presentations and anatomical features hamper the early identification and medical management. In the past few years, the introduction of endovascular techniques opened new paradigms in comprehension and management of aortic diseases. Aim of this review is to discuss contemporary therapeutic approaches of acute type B aortic dissections highlighting the growing role of thoracic endovascular aortic repair (TEVAR) in focusing its complex physiopathology. Prompt medical therapy followed by endovascular repair should be considered as the gold standard in complicated acute type B aortic dissection. Moreover, recent findings also suggest a potential benefit in case of uncomplicated cases. Management of acute type B aortic dissection is progressively shifting into endovascular approach. However, further studies are warranted to define the optimal treatment strategy in each subset of patients and anatomical features.

  20. Acute aortic dissection: be aware of misdiagnosis

    Directory of Open Access Journals (Sweden)

    Asteri Theodora

    2009-02-01

    Full Text Available Abstract Background Acute aortic dissection (AAD is a life-threatening condition requiring immediate assessment and therapy. A patient suffering from AAD often presents with an insignificant or irrelevant medical history, giving rise to possible misdiagnosis. The aim of this retrospective study is to address the problem of misdiagnosing AD and the different imaging studies used. Methods From January 2000 to December 2004, 49 patients (41 men and 8 women, aged from 18–75 years old presented to the Emergency Department of our hospital for different reasons and finally diagnosed with AAD. Fifteen of those patients suffered from arterial hypertension, one from giant cell arteritis and another patient from Marfan's syndrome. The diagnosis of AAD was made by chest X-ray, contrast enhanced computed tomography (CT, transthoracic echocardiography (TTE and coronary angiography. Results Initial misdiagnosis occurred in fifteen patients (31% later found to be suffering from AAD. The misdiagnosis was myocardial infarction in 12 patients and cerebral infarction in another three patients. Conclusion Aortic dissection may present with a variety of clinical manifestations, like syncope, chest pain, anuria, pulse deficits, abdominal pain, back pain, or acute congestive heart failure. Nearly a third of the patients found to be suffering from AD, were initially otherwise diagnosed. Key in the management of acute aortic dissection is to maintain a high level of suspicion for this diagnosis.

  1. Rupture of an abdominal aortic aneurysm in a young man with Marfan Syndrome

    DEFF Research Database (Denmark)

    Pedersen, Maria Weinkouff; Huynh, Khiem Dinh; Baandrup, Ulrik Thorngren

    2018-01-01

    Abdominal aortic aneurysms are very rare in Marfan syndrome. We present a case with a young non-smoking and normotensive male with Marfan syndrome, who developed an infrarenal abdominal aortic aneurysm that presented with rupture to the retroperitoneal cavity causing life-threatening bleeding shock...

  2. Aortic elasticity and size are associated with aortic regurgitation and left ventricular dysfunction in tetralogy of Fallot after pulmonary valve replacement

    NARCIS (Netherlands)

    Grotenhuis, H.B.; Ottenkamp, J.; de Bruijn, L.; Westenberg, J.J.M.; Vliegen, H.W.; Kroft, L.J.M.; de Roos, A.

    2009-01-01

    Background: Aortic wall pathology and concomitant aortic dilatation have been described in tetralogy of Fallot (TOF) patients, which may negatively affect aortic valve and left ventricular systolic function. Objective: To assess aortic dimensions, aortic elasticity, aortic valve competence and

  3. Reinforced aortic root reconstruction for acute type A aortic dissection involving the aortic root

    Directory of Open Access Journals (Sweden)

    Han Qing-qi

    2013-06-01

    Full Text Available OBJECTIVE: There are debates regarding the optimal approach for AAAD involving the aortic root. We described a modified reinforced aortic root reconstruction approach for treating AAAD involving the aortic root. METHODS: A total of 161 patients with AAAD involving the aortic root were treated by our modified reinforced aortic root reconstruction approach from January 1998 to December 2008. Key features of our modified approach were placement of an autologous pericardial patch in the false lumen, lining of the sinotubular junction lumen with a polyester vascular ring, and wrapping of the vessel with Teflon strips. Outcome measures included post-operative mortality, survival, complications, and level of aortic regurgitation. RESULTS: A total of 161 patients were included in the study (mean age: 43.3 1 15.5 years. The mean duration of follow-up was 5.1 1 2.96 years (2-12 years. A total of 10 (6.2% and 11 (6.8% patients died during hospitalization and during follow-up, respectively. Thirty-one (19.3% patients experienced postoperative complications. The 1-, 3-, 5-, and 10-year survival rates were 99.3%, 98%, 93.8%, and 75.5%, respectively. There were no instances of recurrent aortic dissection, aortic aneurysm, or pseudoaneurysm during the entire study period. The severity of aortic regurgitation dramatically decreased immediately after surgery (from 28.6% to 0% grade 3-4 and thereafter slightly increased (from 0% to 7.2% at 5 years and 9.1% at 10 years. CONCLUSION: This modified reinforced aortic root reconstruction was feasible, safe and durable/effective, as indicated by its low mortality, low postoperative complications and high survival rate.

  4. Aortic root replacement after previous surgical intervention on the aortic valve, aortic root, or ascending aorta.

    Science.gov (United States)

    Kirsch, E W Matthias; Radu, N Costin; Mekontso-Dessap, Armand; Hillion, Marie-Line; Loisance, Daniel

    2006-03-01

    Aortic root replacement after a previous operation on the aortic valve, aortic root, or ascending aorta remains a major challenge. Records of 56 consecutive patients (44 men; mean age, 56.4 +/- 13.6 years) undergoing reoperative aortic root replacement between June 1994 and June 2005 were reviewed retrospectively. Reoperation was performed 9.4 +/- 6.7 years after the last cardiac operation. Indications for reoperation were true aneurysm (n = 14 [25%]), false aneurysm (n = 10 [18%]), dissection or redissection (n = 9 [16%]), structural or nonstructural valve dysfunction (n = 10 [18%]), prosthetic valve-graft infection (n = 12 [21%]), and miscellaneous (n = 1 [2%]). Procedures performed were aortic root replacement (n = 47 [84%]), aortic root replacement plus mitral valve procedure (n = 5 [9%]), and aortic root replacement plus arch replacement (n = 4 [7%]). In 14 (25%) patients coronary artery bypass grafting had to be performed unexpectedly during the same procedure or immediately after the procedure to re-establish coronary perfusion. Hospital mortality reached 17.9% (n = 10). Multivariate logistic regression analysis revealed the need for unplanned perioperative coronary artery bypass grafting as the sole independent risk factor for hospital death (P = .005). Actuarial survival was 83.8% +/- 4.9% at 1 month, 73.0% +/- 6.3% at 1 year, and 65.7% +/- 9.0% at 5 years after the operation. One patient had recurrence of endocarditis 6.7 months after the operation and required repeated homograft aortic root replacement. Reoperative aortic root replacement remains associated with a high postoperative mortality. The need to perform unplanned coronary artery bypass grafting during reoperative aortic root replacement is a major risk factor for hospital death. The optimal technique for coronary reconstruction in this setting remains to be debated.

  5. Transcatheter implantation of a new prototype of self-expanding aortic valve prosthesis: first experience

    Directory of Open Access Journals (Sweden)

    Е. И. Кретов

    2016-12-01

    Full Text Available Calcific aortic stenosis is an aortic valve disease of atherosclerotic origin occurring in 2-4 % of persons older than 65 years, for whom open surgery is contraindicated. Models of self-expanding aortic valves available today have a number of significant drawbacks. The authors have developed a prototype of a new aortic valve and present its first successful implantation in the experiment.Received 17 October 2016. Accepted 22 November 2016.Funding: The study had no sponsorship.Conflict of interest: The authors declare no conflict of interest.

  6. Aortic embolization of an Edwards SAPIEN prosthesis due to sigmoid left ventricular hypertrophy: Case report.

    Science.gov (United States)

    Yuksel, Isa Öner; Koklu, Erkan; Arslan, Sakir; Cagirci, Goksel; Kucukseymen, Selcuk

    2016-06-01

    Transcatheter aortic valve implantation (TAVI) is considered an alternative therapy in high-risk patients with severe aortic stenosis. Although a minimally invasive procedure, it is not free from complications, one of which is valve embolization at the time of TAVI. We present a case of embolization of a balloon-expandable aortic valve due to sigmoid left ventricular hypertrophy and managed with a second valve without surgery. The embolized valve was repositioned in the aortic arch between the left common carotid artery and the brachiocephalic trunk. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  7. Asymptomatic papillary fibroelastoma of the Aortic valve in a young woman - a case report

    Directory of Open Access Journals (Sweden)

    Pitsis Antonis

    2009-09-01

    Full Text Available Abstract Echocardiography represents an invaluable diagnostic tool for the detection of intracardiac masses while simultaneously provides information about their size, location, mobility and attachment site as well as the presence and extent of any consequent hemodynamic derangement. A 29-year-old asymptomatic young woman with incidental transthoracic echocardiographic (TTE discovery of an aortic valve mass is presented. The 2-dimensional TTE showed a mobile, pedunculated mass, attached by a thin stalk to the aortic surface of the right coronary aortic cusp at the junction of its base with the anterior aortic wall. The importance of valve sparing tumour resection even in asymptomatic patients is emphasised.

  8. Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development

    Directory of Open Access Journals (Sweden)

    Vitalis Tania

    2009-03-01

    population that is thought responsible for the cerebellar hypoplasia in Down syndrome, a global destabilization of gene expression was not detected. Altogether these results strongly suggest that the three-copy genes are directly responsible for the phenotype present in cerebellum. We provide here a short list of candidate genes.

  9. Aortic stenosis: An update.

    Science.gov (United States)

    Nathaniel, Sangeetha; Saligram, Shreyas; Innasimuthu, Antony Leslie

    2010-06-26

    Aortic stenosis (AS) is the most common valvular heart disease in the world. It is a disease of the elderly and as our population is getting older in both the developed and the developing world, there has been an increase in the prevalence of AS. It is impacting the mortality and morbidity of our elderly population. It is also causing a huge burden on the healthcare system. There has been tremendous progress in our understanding of AS in recent years. Lately, studies have shown that AS is not just a disease of the aortic valve but it affects the entire systemic vasculature. There are studies looking at more sophisticated measures of disease severity that might better predict the optimal timing of valve replacement. The improvement in our understanding in etiology and pathophysiology of the disease process has led to a number of trials with possible treatment options for AS. In this review, we talk about our understanding of the disease and latest developments in disease assessment and management. We look forward to a time when there will be medical treatment for AS.

  10. Risk factors of pre-operational aortic rupture in acute and subacute Stanford type A aortic dissection patients.

    Science.gov (United States)

    Li, Zhuo-Dong; Liu, Yang; Zhu, Jiang; Wang, Jun; Lu, Fang-Lin; Han, Lin; Xu, Zhi-Yun

    2017-12-01

    Aortic rupture is one of the main causes of early death in acute and subacute Stanford type A aortic dissection (ATAAD) patients. This study aimed to analyze potential risk factors for pre-operational aortic rupture in ATAAD patients. We retrospectively reviewed aortic dissection cases treated between May 2013 and May 2016 in Changhai Hospital, Shanghai. A total of 329 patients with ATAAD were included in the final analysis, and 31 patients died of aortic rupture before surgery. Clinical data on basic characteristics, clinical presentation, and biochemical measurements for all 329 patients were analyzed. The in-hospital aortic rupture rate was 9.4% (31/329), and the rupture accounted for 47% (31/66) of all in-hospital deaths of ATAAD patients. Patients who experienced rupture were significantly older (Prisk factors: shock [odds ratio (OR): 8.12; 95% confidence interval (CI), 1.10-59.85, P=0.040], pain requiring medication (OR: 12.67; 95% CI, 2.43-66.09; P=0.003), troponin level >0.7 ng/mL (OR: 9.28; 95% CI, 1.72-50.06; P=0.010), and D-dimer level ≥10 µg/mL (OR: 13.37; 95% CI, 2.18-81.97; P=0.005). Aortic rupture accounted for 47% of all in-hospital deaths among patient with ATAAD. Shock, pain requiring medication, a troponin level >0.7 ng/mL and a D-dimer level ≥10 µg/mL are independent risk factors for aortic rupture in these patients.

  11. Neurotrophin 3 upregulates proliferation and collagen production in human aortic valve interstitial cells: a potential role in aortic valve sclerosis.

    Science.gov (United States)

    Yao, Qingzhou; Song, Rui; Ao, Lihua; Cleveland, Joseph C; Fullerton, David A; Meng, Xianzhong

    2017-06-01

    Calcific aortic valve disease (CAVD) is a leading cardiovascular disorder in the elderly. Diseased aortic valves are characterized by sclerosis (fibrosis) and nodular calcification. Sclerosis, an early pathological change, is caused by aortic valve interstitial cell (AVIC) proliferation and overproduction of extracellular matrix (ECM) proteins. However, the mechanism of aortic valve sclerosis remains unclear. Recently, we observed that diseased human aortic valves overexpress growth factor neurotrophin 3 (NT3). In the present study, we tested the hypothesis that NT3 is a profibrogenic factor to human AVICs. AVICs isolated from normal human aortic valves were cultured in M199 growth medium and treated with recombinant human NT3 (0.10 µg/ml). An exposure to NT3 induced AVIC proliferation, upregulated the production of collagen and matrix metalloproteinase (MMP), and augmented collagen deposition. These changes were abolished by inhibition of the Trk receptors. NT3 induced Akt phosphorylation and increased cyclin D1 protein levels in a Trk receptor-dependent fashion. Inhibition of Akt abrogated the effect of NT3 on cyclin D1 production. Furthermore, inhibition of either Akt or cyclin D1 suppressed NT3-induced cellular proliferation and MMP-9 and collagen production, as well as collagen deposition. Thus, NT3 upregulates cellular proliferation, ECM protein production, and collagen deposition in human AVICs. It exerts these effects through the Trk-Akt-cyclin D1 cascade. NT3 is a profibrogenic mediator in human aortic valve, and overproduction of NT3 by aortic valve tissue may contribute to the mechanism of valvular sclerosis. Copyright © 2017 the American Physiological Society.

  12. Suprarenal Abdominal Aortic Coarctation Diagnosed During Pregnancy

    Directory of Open Access Journals (Sweden)

    Sh Hajsadeghi

    2010-12-01

    Full Text Available Coarctation of the abdominal aorta is an extremely rare vascular defect inwhich congenital or acquired etiologies have been described. This case concernsa 30-year-old pregnant woman with 15-years history of uncontrolled hypertensionand lower limb claudication presented with worsened hypertension during herfirst pregnancy. Magnetic resonance angiography study of aorta revealed astenosis in abdominal aorta about 12mm from the origin of celiac axisaccompanied by left sided aortic arch and right aberrant subclavian artery. Thiscase highlights the importance of a throughout physical examination in patientspresented with hypertension and it emphasizes considering the coarctation of theabdominal aorta during the diagnostic workup of hypertension, especially inyoung patients. In such cases magnetic resonance angiography of the aorta is auseful tool to reach a definitive diagnosis especially in pregnant women.Also to our knowledge, this patient is the first one found to have aortic archmalformation combined with an abdominal coarctation.

  13. Spontaneous aortic dissecting hematoma in two dogs.

    Science.gov (United States)

    Boulineau, Theresa Marie; Andrews-Jones, Lydia; Van Alstine, William

    2005-09-01

    This report describes 2 cases of spontaneous aortic dissecting hematoma in young Border Collie and Border Collie crossbred dogs. Histology was performed in one of the cases involving an unusual splitting of the elastin present within the wall of the aorta, consistent with elastin dysplasia as described in Marfan syndrome in humans. The first case involved a young purebred Border Collie that died suddenly and the second case involved a Border Collie crossbred dog that died after a 1-month history of seizures. Gross lesions included pericardial tamponade with dissection of the ascending aorta in the former case and thoracic cavity hemorrhage, mediastinal hematoma, and aortic dissection in the latter. Histologic lesions in the case of the Border Collie crossbred dog included a dissecting hematoma of the ascending aorta with elastin dysplasia and right axillary arterial intimal proliferation.

  14. Glucose Suppresses Biological Ferroelectricity in Aortic Elastin

    Science.gov (United States)

    Liu, Yuanming; Wang, Yunjie; Chow, Ming-Jay; Chen, Nataly Q.; Ma, Feiyue; Zhang, Yanhang; Li, Jiangyu

    2013-04-01

    Elastin is an intriguing extracellular matrix protein present in all connective tissues of vertebrates, rendering essential elasticity to connective tissues subjected to repeated physiological stresses. Using piezoresponse force microscopy, we show that the polarity of aortic elastin is switchable by an electrical field, which may be associated with the recently discovered biological ferroelectricity in the aorta. More interestingly, it is discovered that the switching in aortic elastin is largely suppressed by glucose treatment, which appears to freeze the internal asymmetric polar structures of elastin, making it much harder to switch, or suppressing the switching completely. Such loss of ferroelectricity could have important physiological and pathological implications from aging to arteriosclerosis that are closely related to glycation of elastin.

  15. Diagnosis and management of aortic mycotic aneurysms.

    Science.gov (United States)

    Leon, Luis R; Mills, Joseph L

    2010-01-01

    We reviewed all papers most recently reported in the literature (January-December 2008) with regard to infected arterial aneurysms (IAAs) affecting the aorta. Most of the recently reported knowledge is limited to case reports and small series of aortic mycotic aneurysms. Most patients are elderly men and have comorbidities at presentation. Aneurysms were most commonly associated to Salmonella and Staphylococcus. However, several cases of aortic IAAs caused by atypical pathogens were also reported, likely due to an increase in immunosuppressive illnesses, increased life expectancy, improved diagnostic methods, and increasing medical awareness. Open surgical therapy of IAAs remains the gold standard. Some have reported successful outcomes with endovascular methodologies for patients medically compromised or for particular challenging clinical or anatomical scenarios. However, at this time, conclusive evidence is lacking and it should be in general considered a bridge to open repair. The latter should be planned at the earliest possible, when medically permissible.

  16. Full-root aortic valve replacement with stentless xenograft achieves superior regression of left ventricular hypertrophy compared to pericardial stented aortic valves.

    Science.gov (United States)

    Tavakoli, Reza; Auf der Maur, Christoph; Mueller, Xavier; Schläpfer, Reinhard; Jamshidi, Peiman; Daubeuf, François; Frossard, Nelly

    2015-02-03

    Full-root aortic valve replacement with stentless xenografts has potentially superior hemodynamic performance compared to stented valves. However, a number of cardiac surgeons are reluctant to transform a classical stented aortic valve replacement into a technically more demanding full-root stentless aortic valve replacement. Here we describe our technique of full-root stentless aortic xenograft implantation and compare the early clinical and midterm hemodynamic outcomes to those after aortic valve replacement with stented valves. We retrospectively compared the pre-operative characteristics of 180 consecutive patients who underwent full-root replacement with stentless aortic xenografts with those of 80 patients undergoing aortic valve replacement with stented valves. In subgroups presenting with aortic stenosis, we further analyzed the intra-operative data, early postoperative outcomes and mid-term regression of left ventricular mass index. Patients in the stentless group were younger (62.6 ± 13 vs. 70.3 ± 11.8 years, p regression of the left ventricular mass index in the stentless (p replacement can be performed without adversely affecting the early morbidity or mortality in patients operated on for aortic valve stenosis provided that the coronary ostia are not heavily calcified. The additional time necessary for the full-root stentless compared to the classical stented aortic valve replacement is therefore not detrimental to the early clinical outcomes and is largely rewarded in patients with aortic stenosis by lower transvalvular gradients at mid-term and a better regression of their left ventricular mass index.

  17. [Current results of the aortic valve changes].

    Science.gov (United States)

    López Soriano, F; Barnet, J C; Quijano Pitman, F

    1979-01-01

    The prosthetic substitution of the aortic valve has experienced a great advance over the last years in relation with the surgical and hospital mortality. In the personal experience of one of the authors (F. López Soriano), the mortality rate was 0% in 40 patients in which an aortic valve change was performed, isolated or associated to other pathology. Between 1973 and 1978, 167 patients were operated at the "Instituto Nacional de Cardiología", with an early mortality of 11.3%; these results were superior to those previously published. The percentage of myocardic infarction following surgery was similar in both groups 8% less, than the 15% reported in other statistics. 25 patients of the total group needed second surgery due to prosthetic malfunction. A Starr Edward Model 2320 had been implanted on most patients, known for the high percentage of malfunction which is being discarted at present. Thromboembolic phenomena occurred in 9 patients (5.3%) from which five were located in the brain, none of them being fatal. The present results justify early surgery in moderately sinthomatic aortic valve disease, when comparing these results with the natural history of the disease and the evolution of said patients operated in later stages.

  18. Multiple subfailures characterize blunt aortic injury.

    Science.gov (United States)

    Stemper, Brian D; Yoganandan, Narayan; Pintar, Frank A; Brasel, Karen J

    2007-05-01

    Blunt aortic injuries result from rapid deceleration of the thorax as may occur during automotive impacts and falls from extreme heights. Pathological findings can range from failure of specific vessel layers to immediate vessel wall rupture. The purpose of this investigation was to determine the sequence of local structural events that may lead to aortic wall disruption. Fourteen porcine aorta specimens were opened to expose the intima and longitudinally distracted until rupture. Longitudinal mechanics were quantified and subfailures were identified. Histology was used to examine internal layer subfailure. Videography demonstrated that subfailures propagated into complete vessel wall rupture. Subfailures occurred before complete vessel rupture in 93% of specimens. Intimal and medial subfailures were present at 74% of the stress and 82% of the strain to rupture. Multiple subfailures were evident in 79% of specimens. Present results supported the clinical theory that nonimmediate death as a result of blunt aortic injury is commonly caused by propagation of lesser lesions, initiating on the intimal layer, into complete vessel rupture including the adventitial layer. This finding, along with histologic evidence of subfailure pathological findings, confirms the presence of an acute window during which recognition and initiation of permissive hypotension may be lifesaving.

  19. Tobacco smoking and aortic aneurysm

    DEFF Research Database (Denmark)

    Sode, Birgitte F; Nordestgaard, Børge G; Grønbæk, Morten

    2012-01-01

    BACKGROUND: We determined the predictive power of tobacco smoking on aortic aneurysm as opposed to other risk factors in the general population. METHODS: We recorded tobacco smoking and other risk factors at baseline, and assessed hospitalization and death from aortic aneurysm in 15,072 individuals...... aneurysm in males and females consuming above 20g tobacco daily was 3.5% and 1.3%, among those >60years with plasma cholesterol >5mmol/L and a systolic blood pressure >140mmHg. CONCLUSIONS: Tobacco smoking is the most important predictor of future aortic aneurysm outcomes in the general population...

  20. Psychological consequences of screening for abdominal aortic aneurysm and conservative treatment of small abdominal aortic aneurysms

    DEFF Research Database (Denmark)

    Lindholt, Jes Sanddal; Vammen, Sten; Fasting, H

    2000-01-01

    To describe the potential psychological consequences of screening for abdominal aortic aneurysms (AAAs).......To describe the potential psychological consequences of screening for abdominal aortic aneurysms (AAAs)....

  1. Collagen analysis of the ascending aortic dilatation associated with bicuspid aortic valve disease compared with tricuspid aortic valve.

    Science.gov (United States)

    Navarrete Santos, Alexander; Yan, Junfeng; Lochmann, Peter; Pfeil, Heike; Petersen, Michael; Simm, Andreas; Treede, Hendrik; Sievers, Hans H; Mohamed, Salah A

    2016-12-01

    Dilatation of the ascending aorta is a common occurrence in patients with bicuspid aortic valve (BAV). The aim of the current study was to characterize collagen content in advanced glycation end products (AGEs) of dilated aortic tissue from two distinct areas, concave and convex aortic sites in patients with BAV and TAV. Collagen contents extracted from 100 mg tissue was isolated by enzymatic digestion using pepsin and the nondigested material was further digested using cyanogen bromide, insoluble collagen fraction (ICF) was extracted by hydrochloric acid hydrolysis. BAV tissue showed diminished fluorescence of the pepsin extracted fraction (PEF) compared with TAV tissue (12.4 ± 1.0% vs 32.9 ± 7.6%, p = 0.05). Patients with BAV had PEF of collagens significantly diminished in the dilated ascending aorta, especially in its convex portion, in course of aging and increment of dilated diameters. It is suggestible that BAV patients present more highly AGE-modified collagens in their ascending aorta.

  2. Aortic root geometry in aortic stenosis patients (a SEAS substudy)

    DEFF Research Database (Denmark)

    Bahlmann, Edda; Nienaber, Christoph A; Cramariuc, Dana

    2011-01-01

    with asymptomatic AS (mean age 67 years, 39% women) in the Simvastatin Ezetimibe in AS study were used. The inner aortic diameter was measured at four levels: annulus, sinus of Valsalva, sinotubular junction and supracoronary, and sinus height as the annulo-junctional distance. Analyses were based on vendor...... diameters (all P SEAS study, 27% of women and 19% of men did not have aortic root geometry fulfilling current requirements for TAVI....

  3. Diffusion of Alexa Fluor 488-conjugated dendrimers in rat aortic tissue.

    Science.gov (United States)

    Cho, Brenda S; Roelofs, Karen J; Majoros, Istvan J; Baker, James R; Stanley, James C; Henke, Peter K; Upchurch, Gilbert R

    2006-11-01

    In this study, the distribution of labeled dendrimers in native and aneurysmal rat aortic tissue was examined. Adult male rats underwent infrarenal aorta perfusion with generation 5 (G5) acetylated Alexa Fluor 488-conjugated dendrimers for varying lengths of time. In a second set of experiments, rats underwent aortic elastase perfusion followed by aortic dendrimer perfusion 7 days later. Aortic diameters were measured prior to and postelastase perfusion, and again on the day of harvest. Aortas were harvested 0, 12, or 24 h postperfusion, fixed, and mounted. Native aortas were harvested and viewed as negative controls. Aortic cross-sections were viewed and imaged using confocal microscopy. Dendrimers were quantified (counts/high-powered field). Results were evaluated by repeated measures ANOVA and Student's t-test. We found that in native aortas, dendrimers penetrated the aortic wall in all groups. For all perfusion times, fewer dendrimers were present as time between dendrimer perfusion and aortic harvest increased. Longer perfusion times resulted in increased diffusion of dendrimers throughout the aortic wall. By 24 h, the majority of the dendrimers were through the wall. Dendrimers in aneurysmal aortas, on day 0 postdendrimer perfusion, diffused farther into the aortic wall than controls. In conclusion, this study documents labeled dendrimers delivered intra-arterially to native rat aortas in vivo, and the temporal diffusion of these molecules within the aortic wall. Increasing perfusion time and length of time prior to harvest resulted in continued dendrimer diffusion into the aortic wall. These preliminary data provide a novel mechanism whereby local inhibitory therapy may be delivered locally to aortic tissue.

  4. [Outcomes of acute type A aortic dissection repairs in Iceland].

    Science.gov (United States)

    Geirsson, Arnar; Melvinsdottir, Inga Hlif; Arnorsson, Thorarinn; Myrdal, Gunnar; Gudbjartsson, Tomas

    2016-02-01

    Acute type A aortic dissection is a life-threatening disease associated with significant morbidity and mortality. Treatment is challenging and requires emergency surgery. This study presents for the first time the short- and long-term outcome of acute type A aortic dissection repairs in Iceland. A retrospective review of 45 patients (mean age 60.7 ± 13.9 years, 68.9% male) treated for type A aortic dissection at Landspitali University Hospital between 1992 and 2014. Data was gathered from medical records about known risk factors, presenting symptoms, type of procedure, complications and operative mortality. Out of 45 operations the majority (73.3%) was performed in the second half of the study period. Nearly all patients presented with chest pain and 46.7% were in shock on arrival. Malperfusion syndrome was apparent in 26.7% of cases. A variety of operative methods were used, including hypothermic circulatory arrest in 31.1% of the cases and one-third of patients needed aortic root replacement. Reoperation rate for postoperative bleeding was 29.3% and perioperative stroke occurred in 14.6% of patients. The 30-day mortality rate was 22.2% (10 patients) and 5- and 10-year survival was 71.4 ± 8.2% and 65.4 ± 9.4%, respectively. The short-term outcomes of surgical repair for acute type A aortic dissection in Iceland is comparable to neighbouring countries, including 30-day mortality and long-term survival. Complications, however, are common, especially reoperations for bleeding. 1Department of Cardiothoracic Surgery, Landspitali University Hospital, 2Faculty of Medicine, University of Iceland. Aortic dissection type A, aortic aneurysm, open heart surgery, complications, operative mortality, survival. Correspondence: Arnar Geirsson, arnarge@landspitali.is.

  5. Pulmonary hypoplasia on preterm infant associated with diffuse chorioamniotic hemosiderosis caused by intrauterine hemorrhage due to massive subchorial hematoma: report of a neonatal autopsy case.

    Science.gov (United States)

    Yamada, Sohsuke; Marutani, Takamitsu; Hisaoka, Masanori; Tasaki, Takashi; Nabeshima, Atsunori; Shiraishi, Mika; Sasaguri, Yasuyuki

    2012-08-01

    A male infant born prematurely at 31 weeks of gestation weighed 789 g and had mildly brown-colored oral/tracheal aspirates at delivery. The amniotic fluid was also discolored, and its index was below 5. The patient died of hypoxemic respiratory and cardiac failure 2 hours after birth. The maternal profiles showed placenta previa and intrauterine growth restriction (IUGR) at 22 weeks of gestation, and revealed recurrent episodes of antenatal and substantial vaginal bleeding and oligohydramnios, indicating chronic abruption-oligohydramnios sequence. The thickened placenta, weighing 275 g, grossly displayed unevenness and diffuse opacity with green to brown discoloration in the chorioamniotic surface, and revealed chronic massive subchorial hematomas (Breus' mole) with old peripheral blood clot, circumvallation, and infarction. Microscopically, diffuse Berlin-blue staining-positive hemosiderin deposits were readily encountered in the chorioamniotic layers of the chorionic plate, consistent with diffuse chorioamniotic hemosiderosis (DCH) due to Breus' mole, accompanied by diffuse amniotic necrosis. At autopsy, an external examination showed several surface anomalies and marked pulmonary hypoplasia, 0.006 (less 0.012) of lung:body weight ratio. Since Breus' mole has a close relationship with intrauterine hemorrhage, resulting in DCH, IUGR, and/or pulmonary hypoplasia of the newborn, the present features might be typical. © 2012 The Authors. Pathology International © 2012 Japanese Society of Pathology and Blackwell Publishing Asia Pty Ltd.

  6. Reoperative Aortic Root Replacement in Patients with Previous Aortic Root or Aortic Valve Procedures

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    Byung Kwon Chong

    2016-08-01

    Full Text Available Background: Generalization of standardized surgical techniques to treat aortic valve (AV and aortic root diseases has benefited large numbers of patients. As a consequence of the proliferation of patients receiving aortic root surgeries, surgeons are more frequently challenged by reoperative aortic root procedures. The aim of this study was to evaluate the outcomes of redo-aortic root replacement (ARR. Methods: We retrospectively reviewed 66 patients (36 male; mean age, 44.5±9.5 years who underwent redo-ARR following AV or aortic root procedures between April 1995 and June 2015. Results: Emergency surgeries comprised 43.9% (n=29. Indications for the redo-ARR were aneurysm (n=12, pseudoaneurysm (n=1, or dissection (n=6 of the residual native aortic sinus in 19 patients (28.8%, native AV dysfunction in 8 patients (12.1%, structural dysfunction of an implanted bioprosthetic AV in 19 patients (28.8%, and infection of previously replaced AV or proximal aortic grafts in 30 patients (45.5%. There were 3 early deaths (4.5%. During follow- up (median, 54.65 months; quartile 1–3, 17.93 to 95.71 months, there were 14 late deaths (21.2%, and 9 valve-related complications including reoperation of the aortic root in 1 patient, infective endocarditis in 3 patients, and hemorrhagic events in 5 patients. Overall survival and event-free survival rates at 5 years were 81.5%±5.1% and 76.4%±5.4%, respectively. Conclusion: Despite technical challenges and a high rate of emergency conditions in patients requiring redo-ARR, early and late outcomes were acceptable in these patients.

  7. PREVALENCE AND PREDICTORS OF CORONARY ARTERY DISEASE IN SEVERE AORTIC STENOSIS PATIENTS UNDERGOING SURGERY

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    Narayanapilai Jayaprasad

    2017-09-01

    Full Text Available BACKGROUND The present study is to find out the prevalence of CAD in severe Aortic Stenosis (AS patients undergoing aortic valve replacement and the relation between the conventional risk factors and CAD in them. Calcific aortic stenosis is associated with the same risk factors as coronary artery disease. Studies on calcific aortic stenosis and CAD are rarely reported from India. The aim of the study is to find out the predictive value of angina for presence of CAD in severe aortic stenosis. MATERIALS AND METHODS All cases of isolated severe aortic stenosis undergoing CAG before aortic valve replacement were included in the study. Data regarding various risk factors, symptoms, echocardiographic parameters and angiographic profile were collected. RESULTS Among a total of 94 patients who have undergone aortic valve replacement for severe AS 40 (42.6% had CAD. Risk factors like advanced age, hypertension, diabetes and smoking were more in patients with CAD compared to isolate AS. Mean gradient was more in the AS + CAD group compared with AS group. Presence of angina had a sensitivity of 82.5% and specificity of 51.85% for predicting coexisting CAD. CONCLUSION Among severe aortic stenosis, patients undergoing AVR 42.6% of patients had significant obstructive CAD. The conventional risk factors predict presence of coronary artery disease. Angina has got a fairly good sensitivity, but moderate specificity for CAD.

  8. Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia

    Energy Technology Data Exchange (ETDEWEB)

    Koerber, Friederike; Benz-Bohm, Gabriele [University of Cologne, Department of Paediatric Radiology, Cologne (Germany); Schoenau, Eckard [University of Cologne, Department of Paediatrics, Cologne (Germany); Horwitz, A.Eldad [Klinikum Krefeld, Department of Paediatric Radiology, Krefeld (Germany)

    2005-06-01

    The isolated form of femoral bowing is an important differential diagnosis of campomelia. Therefore, knowledge of isolated anomalies is fundamental for prenatal diagnosis, especially for the differential diagnosis from severe syndromes. Four cases are presented to discuss the differential diagnosis of femoral bowing including a review of the literature. We report four newborn babies with unilateral bowing and shortening of the femur. Three had no further anomaly; one child had additional abnormalities due to coumarin embryopathy. The radiological findings were shortened femora with bowing and varus deformity and cortical thickening on the concave side. All other parts showed normal bone structure. The aetiology of femoral bowing is unknown. Early damage of the cartilaginous model followed by remodelling with thickening on the concave side of the bone similar to the healing of malaligned fractures is suspected. The isolated form of femoral bowing without any other anomalies has to be differentiated from complex and more often severe congenital syndromes such as campomelia. Postpartum radiological examination should be reduced to a single exposure of the affected limb and follow-up should be done by clinical examination. (orig.)

  9. Renal Infarction from Type B Aortic Dissection

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    Marit Tweet

    2017-07-01

    Full Text Available History of present illness: A 69-year-old-female with a medical history of hypertension presented to the emergency department (ED complaining of sudden onset of lower back and abdominal pain. Eight hours prior to presentation she reported turning to grab something on another counter and felt a sudden onset sharp pain in her lower back. She began to notice ill-defined abdominal pain, although she denied any shortness of breath, chest pain, numbness, weakness, or urologic symptoms. Her vital signs on presentation to the ED were temperature 36.5˚C, blood pressure 143/88, heart rate 84, respiratory rate 14, and oxygen saturation 93% on room air. On arrival, the patient was in significant discomfort and was rolling on the bed due to pain. Although she appeared to be in moderate distress she had minimal, if any, tenderness on abdominal exam, and only mild left lower back tenderness to palpation. This disconnect between the patient’s apparent discomfort and the lack of physical exam findings prompted the ordering of a computed tomography angiography (CTA of the abdomen/pelvis with greatest suspicion for abdominal aortic aneurysm. Significant findings: Initial abdominal images demonstrated a dissection flap; therefore, a CTA of the chest was also obtained. These images revealed a Stanford type B aortic dissection beginning just distal to the left subclavian artery and extending to the origin of the inferior mesenteric artery. The right renal artery arose from the true lumen of the dissection while the left renal artery arose from the false lumen. This case is interesting as imaging shows the lack of perfusion to the left kidney, residing in the retroperitoneum, which correlates with her non-descript abdominal and left flank pain. Discussion: Aortic dissection is defined as a tear within the wall of the aorta that allows blood to track between intima and media layers. A dissection is classified as Stanford Type A if it involves any portion of the

  10. The bicuspid aortic valve and its relation to aortic dilation

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    Shi-Min Yuan

    2010-01-01

    Full Text Available BACKGROUND: A bicuspid aortic valve (BAV is a common congenital heart disease, which affects 1-2% of the population. However, the relationship between BAVs and aortic dilation has not been sufficiently elucidated. METHODS: A total of 241 BAV patients who were referred to this hospital for cardiac surgey over a 4.75-year period were included in this study. In addition to the clinical characteristics of the included patients, the morphological features of the aortic valve and aorta, the length of the left main coronary artery, and the laboratory findings (the coagulation and hematological parameters as well as the total cholesterol concentration were determined and compared with those of the tricuspid aortic valve (TAV patients. RESULTS: The BAV patients were younger than the TAV patients for a valve surgery in the last 3 months of the study period. The BAV patients were predominantly male. Most of the BAVs that were surgically treated were stenotic, regurgitant, or combined, and only 19 (7.88% were normally functioning valves. According to echocardiography or operative records, 148 (78.31% were type A, 31 (16.40% were type B, and 10 (5.29% were type C. The left main coronary artery was much shorter in the BAV patients than it was in the TAV patients. There was no significant difference between BAV and TAV patients in the total cholesterol concentrations; whereas differences were noted between patients receiving lipid-lowering therapy and those not receiving lipid-lowering therapy. The dimensions of the aortic root, sinotubular junction, and ascending aorta were beyond normal limits, while they were significantly smaller in the BAV patients than in the TAV patients. They were also much smaller in patients receiving statin therapy than those not receiving statin therapy in both groups. Moreover, the aortic dilation in the BAV group was found to be significantly associated with patient age. CONCLUSIONS: The BAV patients developed aortic wall and

  11. Cellular Mechanisms of Aortic Valve Calcification.

    Science.gov (United States)

    Zhiduleva, E V; Irtyuga, O B; Shishkova, A A; Ignat'eva, E V; Kostina, A S; Levchuk, K A; Golovkin, A S; Rylov, A Yu; Kostareva, A A; Moiseeva, O M; Malashicheva, A B; Gordeev, M L

    2018-01-01

    Comparative in vitro study examined the osteogenic potential of interstitial cells of aortic valve obtained from the patients with aortic stenosis and from control recipients of orthotopic heart transplantation with intact aortic valve. The osteogenic inductors augmented mineralization of aortic valve interstitial cells (AVIC) in patients with aortic stenosis in comparison with the control level. Native AVIC culture of aortic stenosis patients demonstrated overexpression of osteopontin gene (OPN) and underexpression of osteoprotegerin gene (OPG) in comparison with control levels. In both groups, AVIC differentiation was associated with overexpression of RUNX2 and SPRY1 genes. In AVIC of aortic stenosis patients, expression of BMP2 gene was significantly greater than the control level. The study revealed an enhanced sensitivity of AVIC to osteogenic inductors in aortic stenosis patients, which indicates probable implication of OPN, OPG, and BMP2 genes in pathogenesis of aortic valve calcification.

  12. Imaging techniques in transcatheter aortic valve replacement

    Directory of Open Access Journals (Sweden)

    Quaife RA

    2013-11-01

    Full Text Available Robert A Quaife, Jennifer Dorosz, John C Messenger, Ernesto E Salcedo Division of Cardiology, University of Colorado, Aurora, CO, USA Abstract: Calcific aortic stenosis is now understood as a complex valvular degenerative process sharing many risk factors with atherosclerosis. Once patients develop symptomatic calcific aortic stenosis, the only effective treatment is aortic valve replacement. In the past decade, transcatheter aortic valve replacement (TAVR has been developed as an alternative to surgery to treat severe calcific aortic stenosis. Cardiac imaging plays a pivotal role in the contemporary management of patients with calcific aortic stenosis, and particularly in patients being considered for TAVR, who demand detailed imaging of the aortic valve apparatus. In this review, we highlight the role of cardiac imaging for patient selection, procedural guidance, and evaluation of results of TAVR. Keywords: aortic stenosis, cardiovascular imaging, transcutaneous aortic valve replacement

  13. Adult thoracic and abdominal aortic

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    Randa O. Kaddah

    2016-06-01

    Conclusion: Aortic COA could be found in any segment of the aorta. Proper identification of the anatomical details and pressure gradient studies are important factors affecting the plan of management.

  14. Unoperated aortic aneurysm

    DEFF Research Database (Denmark)

    Perko, M J; Nørgaard, M; Herzog, T M

    1995-01-01

    From 1984 to 1993, 1,053 patients were admitted with aortic aneurysm (AA) and 170 (15%) were not operated on. The most frequent reason for nonoperative management was presumed technical inoperability. Survivals for patients with thoracic, thoracoabdominal, and abdominal AA were comparable....... No significant differences in survival for patients with dissecting and nondissecting AA were detected. In all, 132 patients (78%) died and 78 (59%) of them died of rupture. Mean time to rupture was 1,300 +/- 8 days. Cumulative 5-year hazard of rupture for the dissecting AA was twice that of the nondissecting (p...... A dissections. The results suggest that type B dissections may have a more favorable course if operated on, but a prospective, randomized study is necessary to confirm this observation. We believe that older patients and those with a small aneurysm may benefit from early, elective operation....

  15. [Hypoplasia of the penis: etiologic diagnosis and results of treatment with delayed-action testosterone].

    Science.gov (United States)

    Velásquez-Urzola, A; Léger, J; Aigrain, Y; Czernichow, P

    1998-08-01

    Results of long-term testosterone treatment of congenital hypoplasia of the penis are sparse; the aim of this work was to evaluate these results according to age at onset of treatment, the presence or absence of hypospadias, and its eventual adverse effect upon growth and bone maturation. Sixty-six children with congenital hypoplasia of the penis, isolated (n = 31) or associated with a hypospadias (n = 35), were evaluated between 1 day and 16 years of age. The prevalence (40% of the cases) of the different malformations and/or syndromes associated with congenital hypoplasia and its severity were not different whether the penis was isolated or associated with hypospadias (male-pseudohermaphroditism). The effect of the testosterone heptylate (IM) was evaluated in 40 children treated before 10 years of age. The penis' increase in length was more important in the children with isolated micropenis (+2.1 +/- 0.8 SDS) than those with hypospadias (+1.3 +/- 1.2 SDS) but, in all cases, its increase was better when the treatment was started during the neonatal period, which corresponded to those with the most severe forms of micropenis. A mean regression of the penile volume of -0.7 +/- 0.8 SDS was noticed after the end of each stimulation. No long-term secondary effects related to treatment were seen on later growth and bone-maturation. Penile length at the last follow-up was not associated with total dose of testosterone but with its length at the first evaluation time (r = 0.52; P = 0.002).

  16. Characteristics of aortic valve dysfunction and ascending aorta dimensions according to bicuspid aortic valve morphology

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Hong Ju [Konkuk University Medical Center, Konkuk University School of Medicine, Department of Cardiovascular Surgery, Seoul (Korea, Republic of); Yonsei University College of Medicine, Department of Cardiovascular Surgery, Seoul (Korea, Republic of); Shin, Je Kyoun; Chee, Hyun Kun; Kim, Jun Suk [Konkuk University Medical Center, Konkuk University School of Medicine, Department of Cardiovascular Surgery, Seoul (Korea, Republic of); Ko, Sung Min [Konkuk University Medical Center, Konkuk University School of Medicine, Department of Radiology, Seoul (Korea, Republic of)

    2015-07-15

    To characterize aortic valve dysfunction and ascending aorta dimensions according to bicuspid aortic valve (BAV) morphology using computed tomography (CT) and surgical findings. We retrospectively enrolled 209 patients with BAVs who underwent transthoracic echocardiography (TTE) and CT. BAVs were classified as anterior-posterior (BAV-AP) or lateral (BAV-LA) orientation of the cusps and divided according to the presence (raphe+) or absence (raphe-) of a raphe. Ascending aortic dimensions were measured by CT at four levels. BAV-AP was present in 129 patients (61.7 %) and raphe+ in 120 (57.4 %). Sixty-nine patients (33.0 %) had aortic regurgitation (AR), 70 (33.5 %) had aortic stenosis (AS), and 58 (27.8 %) had combined AS and AR. AR was more common in patients with BAV-AP and raphe+; AS was more common with BAV-LA and raphe-.Annulus/body surface area and tubular portion/body surface area diameters in patients with BAV-AP (17.1 ± 2.3 mm/m{sup 2} and 24.2 ± 5.3 mm/m{sup 2}, respectively) and raphe+ (17.3 ± 2.2 mm/m{sup 2} and 24.2 ± 5.5 mm/m{sup 2}, respectively) were significantly different from those with BAV-LA (15.8 ± 1.9 mm/m{sup 2} and 26.4 ± 5.5 mm/m{sup 2}, respectively) and raphe- (15.7 ± 1.9 mm/m{sup 2} and 26.2 ± 5.4 mm/m{sup 2}, respectively). The morphological characteristics of BAV might be associated with the type of valvular dysfunction, and degree and location of an ascending aorta dilatation. (orig.)

  17. Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm.

    Science.gov (United States)

    Gibson, Christine; Nielsen, Cory; Alex, Ramona; Cooper, Kimbal; Farney, Michael; Gaufin, Douglas; Cui, Jason Z; van Breemen, Cornelis; Broderick, Tom L; Vallejo-Elias, Johana; Esfandiarei, Mitra

    2017-07-01

    Regular low-impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene. However, being above average in height encourages young adults with this syndrome to engage in high-intensity contact sports, which unfortunately increases the risk for aortic aneurysm and rupture, the leading cause of death in Marfan syndrome. In this study, we investigated the effects of voluntary (cage-wheel) or forced (treadmill) aerobic exercise at different intensities on aortic function and structure in a mouse model of Marfan syndrome. Four-week-old Marfan and wild-type mice were subjected to voluntary and forced exercise regimens or sedentary lifestyle for 5 mo. Thoracic aortic tissue was isolated and subjected to structural and functional studies. Our data showed that exercise improved aortic wall structure and function in Marfan mice and that the beneficial effect was biphasic, with an optimum at low intensity exercise (55-65% V̇o 2max ) and tapering off at a higher intensity of exercise (85% V̇o 2max ). The mechanism underlying the reduced elastin fragmentation in Marfan mice involved reduction of the expression of matrix metalloproteinases 2 and 9 within the aortic wall. These findings present the first evidence of potential beneficial effects of mild exercise on the structural integrity of the aortic wall in Marfan syndrome associated aneurysm. Our finding that moderate, but not strenuous, exercise protects aortic structure and function in a mouse model of Marfan syndrome could have important implications for the medical care of young Marfan patients. NEW & NOTEWORTHY The present study provides conclusive scientific evidence that daily exercise can improve aortic health in a mouse model of Marfan syndrome associated aortic aneurysm, and it establishes the threshold for the exercise intensity beyond which exercise may not be as protective. These findings establish a platform

  18. Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH).

    Science.gov (United States)

    Gallimore, Chris I; Lewis, David; Taylor, Clive; Cant, Andrew; Gennery, Andrew; Gray, Jim J

    2004-06-01

    We have demonstrated the long-term excretion of a stable recombinant norovirus in a patient with cartilage hair hypoplasia (CHH), with a T cell immunodeficiency, following bone marrow transplantation (BMT). The patient excreted an ARG320/1999/US-like recombinant norovirus (rGII-3) for 156 days during a period of immune reconstitution. The child was symptomatic during the period of virus shedding. It is not known if the child acquired the recombinant strain or if recombination occurred in vivo.

  19. IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.

    Science.gov (United States)

    Hutz, Janna E; Krause, Andrea S; Achermann, John C; Vilain, Eric; Tauber, Maïthé; Lecointre, Claudine; McCabe, Edward R B; Hammer, Gary D; Keegan, Catherine E

    2006-05-01

    The spontaneous mouse mutant adrenocortical dysplasia (acd) is characterized by defects in the adrenals, kidneys, and gonads of adult mutant mice and by caudal dysgenesis and vertebral segmentation defects in acd embryos. This association of defects mirrors those identified in patients with known or suspected abnormalities in adrenocortical development, including adrenal hypoplasia congenita and IMAGe association. The identification of the Acd gene in mice has prompted the study of its human homolog ACD, which has recently been shown to be a regulator of telomere length. Sequencing of ACD in 15 patients revealed no coding mutations, but three novel SNPs were identified.

  20. Congenital hypoplasia of the medical hallucial sesamoid with avascular necrosis: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Song, Yoonah; Lee, Seunghun; Joo, Kyung Bin; Choi, Chan Bum [Hanyang University College of Medicine, Seoul Hospital, Seoul (Korea, Republic of); Ryu, Jeong Ah [Dept. of Radiology, Hanyang University College of Medicine, Guri Hospital, Guri (Korea, Republic of); Bae, Ji Yoon [Dept. of Pathology, National Police Hospital, Seoul (Korea, Republic of)

    2013-10-15

    Avascular necrosis of the hallucial sesamoids is an uncommon cause of metatarsalgia, and the congenital absence of the medial sesamoid is also a rarely reported condition in the podiatric literature. It must be distinguished from other painful conditions of the sesamoid due to the opposite direction of treatment. To our knowledge, there is no reported case of congenital hypoplasia of the medial sesamoid with osteonecrosis. We report a case of nontraumatic metatarsal pains with progressive sclerosis and fragmentation of the medial sesamoid on serial radiographs, magnetic resonance imaging, and ultrasonography with an incidental finding for the absence of contralateral medial sesamoid in a 33-year-old female.

  1. Congenital hypoplasia of the medical hallucial sesamoid with avascular necrosis: A case report

    International Nuclear Information System (INIS)

    Song, Yoonah; Lee, Seunghun; Joo, Kyung Bin; Choi, Chan Bum; Ryu, Jeong Ah; Bae, Ji Yoon

    2013-01-01

    Avascular necrosis of the hallucial sesamoids is an uncommon cause of metatarsalgia, and the congenital absence of the medial sesamoid is also a rarely reported condition in the podiatric literature. It must be distinguished from other painful conditions of the sesamoid due to the opposite direction of treatment. To our knowledge, there is no reported case of congenital hypoplasia of the medial sesamoid with osteonecrosis. We report a case of nontraumatic metatarsal pains with progressive sclerosis and fragmentation of the medial sesamoid on serial radiographs, magnetic resonance imaging, and ultrasonography with an incidental finding for the absence of contralateral medial sesamoid in a 33-year-old female.

  2. Thoracic aortic aneurysm in a child due to cystic medial necrosis

    International Nuclear Information System (INIS)

    Kuribayashi, Sachio; Watabe, Tsuneya; Ohtaki, Makoto; Matsuyama, Shoya; Ogawa, Junichi

    1983-01-01

    The valuable role of computed tomography (CT) was stressed in the diagnosis of thoracic aortic aneurysm in an asymptomatic 12-year-old child. She initially presented mediastinal mass on plain chest film. A saccular thoracic aortic aneurysm was highly suspected from the CT findings, and it was confirmed on angiography. Pathological examination of the aneurysmal wall revealed cystic medial necrosis. (author)

  3. Celiacomesenteric trunk: a variation that must be known before aortic surgery

    Directory of Open Access Journals (Sweden)

    Nicolas Cheynel

    2011-09-01

    Full Text Available The celiac trunk and the mesenteric arteries may present variations with different clinical significance. A celiacomesenteric trunk was discovered in a patient with mesenteric ischemia and a history of aortic bypass without inferior mesenteric artery reimplantation. Despite thrombectomies and digestive resections, the patient died. Anatomic variations like celiacomesenteric trunk must be known before aortic surgery.

  4. Aortic Annulus Enlargement: Early and Long-Terms Results.

    Science.gov (United States)

    Dumani, Selman; Likaj, Ermal; Dibra, Laureta; Beca, Vera; Kuci, Saimir; Refatllari, Ali

    2017-03-15

    Patient-prosthesis mismatch (PPM) is a common occurrence in aortic valve surgery. Even the discussions about the impact of this phenomenon on the results of aortic valve surgery, the management of this problem remain one of the main topics in this kind of surgery. One of the ways of a solution is aortic annulus enlargement. The main topic of this study is to evaluate the early and longterm results of this technique in our country. During the period January 2010 -January 2015, 641 patients performed aortic valve surgery. In ten patients we performed aortic annulus enlargement according to Manouguian technique to avoid severe patient-prothesis mismatch. Operative mortality and perioperative complications (low cardiac output, pulmonary complications, etc..) were considered the indicators of the early results. Survival, clinical presentation according to NYHA, quality of life were the indicators to evaluate long-term results. Preoperative and postoperative echocardiographic data were also used to evaluate our results. We collected the data from hospital registrations and periodical clinical visit and echographic examination after hospital discharge. In our group, 6 of 10 patients were diagnosed with stenotic aortic valve, two patients had aortic valve regurgitation and two mixed valve pathology. Four patients had concomitant cardiac surgery procedure, mitral or CABG. In all cases, aortic valve pathology was the primary diagnose. In the preoperative echocardiographic examination mean transvalvular gradient was 54.3 ± 6.42. We had no death during early or late postoperative period. Only one patient had pulmonary complications and long time of respiratory assistance because of his pulmonary pathology. The same patient had low cardiac output and wound infection. Early after surgery mean transprostethic gradient was 16.2 ± 3.44 and late postoperative was 15.9 ± 4.3. No patient had the severe patient-prothesis mismatch. Mean follow-up was 49 ± 20.26 months. During follow

  5. Clinical testing of Belarusian aortic stent graft system

    Directory of Open Access Journals (Sweden)

    А. П. Шкет

    2016-12-01

    Full Text Available Aim. The study looks at the results of clinical testing of the first Belarusian aortic stent graft system developed and manufactured by a team of specialists from RSPC "Cardiology", Minsk, Belarus, and Belarusian Technical University.Methods. The original system of aortic stent graft includes a delivery system and an aortic stent graft itself. It is used in surgical treatment of complicated and common aneurysms of the thoracic aorta, as well as in cases of concomitant thoracic aneurysms and heart pathology to be treated under cardiopulmonary bypass. Clinical testing of the stent graft was carried out according to the requirements of Ministry of Health of the Republic of Belarus on the basis of three different cardiac hospitals of the country. Results. All the three hospitals treated one patient each. The first patient underwent implantation of the stent graft into the descending thoracic aorta, with the thoracic aorta aneurysm isolated and the aortic valve replaced with bioprosthesis. The second patient underwent ascending aorta and aortic valve replacement with a conduit and implantation of aortic stent graft into the descending thoracic aorta. In the third patient the domestic aortic stent graft was implanted into the descending thoracic aorta with isolation of the thoracic aneurysm; aortic valve and ascending aorta were replaced with ‘MedEng' conduit and the aortic arch was also replaced, with the brachiocephalic arteries re-implanted in place. All the patients were followed-up for both early and long-term outcomes for more than 1 year and were examined by using CT angiography in the early postoperative period and after 1 year. Uncomplicated postoperative course was observed in all the patients. There were no complications in the long-term follow-up as well. CT angiography data confirmed good positioning of the stent graft and good isolation of the aneurysm lumen. Preoperative and postoperative СТ data of one patient are presented in the

  6. Modificação técnica para correção de coarctação aórtica com hipoplasia do arco aórtico Technical modification for correction of aortic coarctation using hypoplastic arch

    Directory of Open Access Journals (Sweden)

    José Alberto Caliani

    2008-09-01

    Full Text Available OBJETIVO: Estudar a viabilidade técnica e resultados imediatos da modificação técnica proposta por Caliani et al. para correção da coarctação aórtica com hipoplasia do arco aórtico. MÉTODOS: Entre janeiro de 2005 e julho de 2006, nove neonatos com coarctação aórtica e hipoplasia do arco aórtico foram submetidos a uma nova abordagem cirúrgica para correção do defeito. A definição de hipoplasia do arco aórtico seguiu os critérios de Moulaert, segundo os quais o arco aórtico é considerado hipoplásico quando seu diâmetro atinge 50% do diâmetro da aorta ascendente. Nesta série, foram selecionados apenas pacientes com hipoplasia proximal e distal do arco aórtico. Várias técnicas foram propostas anteriormente, mas gradientes residuais importantes foram observados, assim como há o inconveniente da ligadura definitiva da artéria subclávia esquerda. A modificação técnica consiste em: toracotomia póstero-lateral esquerda, ampla mobilização da aorta descendente, com ligadura dos dois primeiros ramos intercostais, transecção da artéria subclávia esquerda em sua base, ressecção ampla de toda zona hipoplásica e adjacências do ducto arterioso, anastomose término-terminal entre o arco aórtico e aorta descendente com fio de PDS 7-0 e reimplante da artéria subclávia sobre a artéria carótida esquerda com anastomose látero-terminal. RESULTADOS: Não houve óbito per-operatório ou tardio, o gradiente residual médio foi de 5 mmHg. Até o presente, não observamos nenhum caso de recoarctação ou de lesão neurológica medular. CONCLUSÃO: A despeito do reduzido número de casos e do seguimento curto, esta modificação técnica pode representar uma excelente opção para tratamento deste complexo grupo de pacientes.OBJECTIVES: To study technical feasibility and early results of the technical modification suggested by Caliani et al. for correction of aortic coarctation and aortic arc. METHODS: Between January

  7. Results of aortic root reimplantation in patients with ascending aortic aneurysm and concomitant aortic insufficiency

    Directory of Open Access Journals (Sweden)

    А. М. Чернявский

    2016-01-01

    Full Text Available Objective. The research was designed to evaluate the results of valve-sparing operations: aortic root reimplantation versus aortic valve reimplantation when repairing an ascending aortic aneurysm with concomitant aortic insufficiency.Methods. Within a blind prospective randomized study conducted over a period from 2011 to 2015, 64 patients underwent aortic valve-sparing surgery. The inclusion criteria were the presence of an aortic aneurysm of the ascending aorta exceeding 4.5 cm and concomitant aortic insufficiency. All patients were divided into two groups: FS-group, aortic root reimplantation (modified Florida Sleeve technique (n = 32 and D-group, aortic valve reimplantation (David procedure (n = 32. The average age of patients was 57±13 (23–73 years in the FS-group and 55±11 (15–72 years in the D-group (p = 0.54. Both groups had 78% of males (p>0.99. A Marfan syndrome was identified in 6% and 9% in the FS-group and D-group respectively (p>0.99. Mean diameter of the sinuses of Valsalva was 51±7 mm and 56±10 mm (p = 0.09, aortic insufficiency 2.6±0.7 and 2.8±0.8 (p = 0.15 in the FS-group and D-group respectively. In the FS-group and D-group LVEDD amounted to 5.5±0.7 mm and 5.9±1.0 mm (p = 0.09 respectively. All patients took echocardiography in the preoperative, postoperative and follow-up periods.Results. In the long-term period, the degree of aortic regurgitation was 1.2±0.1 in the FS-group and 1.3±0.6 in the D-group (p = 0.72. LVEDD was 123±23 mm in the FS-group and 139.6±80 mm in the D-group at follow-up (p = 0.77. There were no statistically significant differences in the analysis of complications. Overall 30-day in-hospital mortality was 7.8%. There were 2 (6.3% deaths in the FS-group and 3 (9.4% in the D-group (p = 0.5.Late mortality was 6.3% in the FS-group and 3.1% in the D-group (p>0.99. Cumulative survival at 4 years was 84.3% and 84.8% in the FS-group and the D-group respectively (p = 0.94. Cumulative freedom from

  8. Early Outcomes of Sutureless Aortic Valves

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    Muhammet Onur Hanedan

    2016-06-01

    Full Text Available Background: In elderly high-risk surgical patients, sutureless aortic valve replacement (AVR should be an alternative to standard AVR. The potential advantages of sutureless aortic prostheses include reducing cross-clamping and cardiopulmonary bypass (CPB time and facilitating minimally invasive surgery and complex cardiac interventions, while maintaining satisfactory hemodynamic outcomes and low rates of paravalvular leakage. The current study reports our single-center experience regarding the early outcomes of sutureless aortic valve implantation. Methods: Between October 2012 and June 2015, 65 patients scheduled for surgical valve replacement with symptomatic aortic valve disease and New York Heart Association function of class II or higher were included to this study. Perceval S (Sorin Biomedica Cardio Srl, Sallugia, Italy and Edwards Intuity (Edwards Lifesciences, Irvine, CA, USA valves were used. Results: The mean age of the patients was 71.15±8.60 years. Forty-four patients (67.7% were female. The average preoperative left ventricular ejection fraction was 56.9±9.93. The CPB time was 96.51±41.27 minutes and the cross-clamping time was 60.85±27.08 minutes. The intubation time was 8.95±4.19 hours, and the intensive care unit and hospital stays were 2.89±1.42 days and 7.86±1.42 days, respectively. The mean quantity of drainage from chest tubes was 407.69±149.28 mL. The hospital mortality rate was 3.1%. A total of five patients (7.69% died during follow-up. The mean follow-up time was 687.24±24.76 days. The one-year survival rate was over 90%. Conclusion: In the last few years, several models of valvular sutureless bioprostheses have been developed. The present study evaluating the single-center early outcomes of sutureless aortic valve implantation presents the results of an innovative surgical technique, finding that it resulted in appropriate hemodynamic conditions with acceptable ischemic time.

  9. CLINICAL CASE OF AN ISOLATED LEFT VENTRICULAR APICAL HYPOPLASIA IN RSO–ALANIA

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    T. B. Kasokhov

    2017-01-01

    Full Text Available Hypoplasia of the left ventricle is characterized by underdevelopment and functional weakness of the left ventricle. Defect occurs with  a frequency of from 0.5 to 7.5% of all congenital heart defects. In newborns, this anomaly is the most frequent death cause. Isolated  left ventricular apical hypoplasia is extremely rare, recently recognized congenital heart defect, which has characteristic magnetic  resonance and echocardiographic symptoms. Complexity of the diagnostics is an asymptomatic clinical current, so timely diagnostics  and therapy can help to delay possible complications and improve the quality of the life of these patients. 

  10. Partial Agenesis and Hypoplasia of the Corpus Callosum in Idiopathic Autism.

    Science.gov (United States)

    Wegiel, Jarek; Flory, Michael; Kaczmarski, Wojciech; Brown, W Ted; Chadman, Kathryn; Wisniewski, Thomas; Nowicki, Krzysztof; Kuchna, Izabela; Ma, Shuang Yong; Wegiel, Jerzy

    2017-03-01

    To test the hypothesis that developmental anomalies of the corpus callosum (CC), contribute to the pathogenesis of autism, we characterized the type, topography, and severity of CC pathology corresponding to reduced CC areas that are detected by magnetic resonance imaging in the brains of 11 individuals with autism and 11 controls. In the brains of 3 autistic subjects, partial CC agenesis resulted in complete or partial lack of interhemispheric axonal connections in CC segments III-V. In these cases, a combination of focal agenesis and uniform axonal deficit caused reduction of CC areas by 37%, of axon numbers by 62%, and of the numerical density of axons by 39%. In the CC of 8 autistic subjects without agenesis, there was an 18% deficit of the midsagittal CC area, 48.4% deficit of axon numbers, and 37% reduction of the numerical density of axons. The significantly thinner CC, reduced CC area, and uniform axonal deficit in all autistic subjects were classified as CC hypoplasia. Thus, the byproduct of partial CC agenesis and hypoplasia is reduction of axonal connections between cortical areas known to be involved in behavioral alterations observed in people with autism. 2017 American Association of Neuropathologists, Inc. This work is written by US Government employees and is in the public domain in the US.

  11. Fractured cervical spine and aortic transection.

    LENUS (Irish Health Repository)

    Griffin, M J

    2012-02-03

    A 17-year-old victim of a road traffic accident presented. Following investigation diagnoses of fractured first cervical vertebra, aortic transection, diffuse cerebral oedema, fractured right ribs 2-4 and pubic rami were made. Management of this case presented a number of anaesthetic dilemmas: management of the airway, use of cross-clamp vs. shunting or heparinization and bypass, cardiovascular and neurological monitoring, maintenance of cardiovascular stability during and post cross-clamp, minimizing the risk of post-operative renal and neurological dysfunction.

  12. RIGHT-SIDED AORTIC ARCH WITH ABERRANT LEFT SUBCLAVIAN ARTERY AND DUPLICATION OF SUPERIOR VENA CAVA

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    Parikhita Hazarika

    2017-08-01

    Full Text Available Right-sided aortic arch is a rare anatomical variant present in about 0.1% of the adult population.1,2 Half of the cases are associated with an aberrant left subclavian artery (0.05%-0.1%. Right-sided aortic arch with aberrant left subclavian artery is less common than left-sided aortic arch with aberrant right subclavian artery (0.5-2.0%.3,4 A rightsided aortic arch is an anatomic variant resulting from persistence of the right fourth aortic arch and involution of the left. It can be associated with an aberrant left subclavian artery arises from Kommerell’s diverticulum. It is usually asymptomatic and diagnosed incidentally during adult age. A 40-year-old male presented with cough and a hump in the back. The patient was evaluated for scoliosis and plain CT thorax was done.

  13. Aortic Wall Injury Related to Endovascular Therapy for Aortic Coarctation.

    Science.gov (United States)

    Tretter, Justin T; Jones, Thomas K; McElhinney, Doff B

    2015-09-01

    Aortic wall complications can occur in unrepaired aortic coarctation (CoA) and after surgical repair or endovascular treatment. This review summarizes the available literature and current understanding of aortic wall injury (AWI) surrounding the management of CoA, focusing specifically on acute and follow-up AWI after endovascular treatment. There have been 23 reported cases of aortic rupture after endovascular treatment for CoA, including angioplasty alone, bare metal stenting, and primary covered stent therapy. Even if these published cases represent only a minority of ruptures that have actually occurred, the incidence is substantially treatment of CoA seems to be declining in frequency with increasing experience and improving technology, it remains one of the most important potential adverse outcomes. Long-term surveillance for new AWI and monitoring of existing AWI is mandatory, with institution of appropriate treatment when necessary. A central research focus in this population should be determination of the appropriate treatment for both native and recurrent CoA across various ages with regard to limiting recurrent CoA and preventing associated aortic wall complications, in addition to determining the appropriate treatment of various AWI. Consistent definitions and reporting are necessary to truly understand the incidence of, risk factors for, and measures protective against AWI after angioplasty or stent implantation for CoA. © 2015 American Heart Association, Inc.

  14. Endoluminal treatment of aortic dissection

    Energy Technology Data Exchange (ETDEWEB)

    Chavan, Ajay; Lotz, Joachim; Galanski, Michael [Department of Diagnostic Radiology, Hannover Medical School, Carl Neuberg Strasse 1, 30625, Hannover (Germany); Oelert, Frank; Haverich, Axel; Karck, Matthias [Department of Thoracic and Cardiovascular Surgery, Hannover Medical School, Carl Neuberg Strasse 1, 30625, Hannover (Germany)

    2003-11-01

    Aortic dissection is most often a catastrophic medical emergency which, if untreated, can be potentially fatal. The intention of therapy in patients with aortic dissection is to prevent aortic rupture or aneurysm formation as well as to relieve branch vessel ischaemia. Patients with aortic dissection are often poor candidates for anaesthesia and surgery and the surgical procedure itself is challenging requiring thoracotomy, aortic cross clamping, blood transfusion as well as prolonged hospital stay in some cases. Operative mortality is especially high in patients with critical mesenteric or renal ischaemia. The past decade has experienced the emergence of a number of interventional radiological or minimally invasive techniques which have significantly improved the management of patients with aortic dissection. These include stent grafting for entry site closure to prevent aneurysmatic widening of the false lumen as well as percutaneous techniques such as balloon fenestration of the intimal flap and aortic true lumen stenting to alleviate branch vessel ischaemia. False lumen thrombosis following entry closure with stent grafts has been observed in 86-100% of patients, whereas percutaneous interventions are able to effectively relieve organ ischaemia in approximately 90% of the cases. In the years to come, it is to be expected that these endoluminal techniques will become the method of choice for treating most type-B dissections and will assist in significantly reducing the number of open surgical procedures required for type-A dissections. The intention of this article is to provide an overview of the current status of these endoluminal techniques based on our own experience as well as on a review of the relevant literature. (orig.)

  15. Endoluminal treatment of aortic dissection

    International Nuclear Information System (INIS)

    Chavan, Ajay; Lotz, Joachim; Galanski, Michael; Oelert, Frank; Haverich, Axel; Karck, Matthias

    2003-01-01

    Aortic dissection is most often a catastrophic medical emergency which, if untreated, can be potentially fatal. The intention of therapy in patients with aortic dissection is to prevent aortic rupture or aneurysm formation as well as to relieve branch vessel ischaemia. Patients with aortic dissection are often poor candidates for anaesthesia and surgery and the surgical procedure itself is challenging requiring thoracotomy, aortic cross clamping, blood transfusion as well as prolonged hospital stay in some cases. Operative mortality is especially high in patients with critical mesenteric or renal ischaemia. The past decade has experienced the emergence of a number of interventional radiological or minimally invasive techniques which have significantly improved the management of patients with aortic dissection. These include stent grafting for entry site closure to prevent aneurysmatic widening of the false lumen as well as percutaneous techniques such as balloon fenestration of the intimal flap and aortic true lumen stenting to alleviate branch vessel ischaemia. False lumen thrombosis following entry closure with stent grafts has been observed in 86-100% of patients, whereas percutaneous interventions are able to effectively relieve organ ischaemia in approximately 90% of the cases. In the years to come, it is to be expected that these endoluminal techniques will become the method of choice for treating most type-B dissections and will assist in significantly reducing the number of open surgical procedures required for type-A dissections. The intention of this article is to provide an overview of the current status of these endoluminal techniques based on our own experience as well as on a review of the relevant literature. (orig.)

  16. Survival and freedom from aortic valve-related reoperation after valve-sparing aortic root replacement in 1015 patients.

    Science.gov (United States)

    Kari, Fabian A; Doll, Kai-Nicolas; Hemmer, Wolfgang; Liebrich, Markus; Sievers, Hans-Hinrich; Richardt, Doreen; Reichenspurner, Hermann; Detter, Christian; Siepe, Matthias; Czerny, Martin; Beyersdorf, Friedhelm

    2016-04-01

    The aim of this study was to characterize mortality and aortic valve replacement after valve-sparing aortic root replacement (V-SARR) in a multicentre cohort. Between 1994 and 2014, 1015 patients had V-SARR with (n = 288, 28%) or without cusp/commissure repair (n = 727, 72%) at the centres of Lübeck (n = 343, 34%), Stuttgart (n = 346, 34%), Hamburg (n = 109, 11%) and Freiburg (n = 217, 21%), Germany. Comparative survival of an age- and gender-matched general population was calculated. Log-rank tests and multiple logistic regression were used to identify risk factors. The mean follow-up was 5.2 ± 3.9 years. Cumulative follow-up comprised 2933 patient-years. Early survival was 98%. NYHA status and aneurysm size were predictive of death during mid-term follow-up (P = 0.025). Freedom from aortic valve replacement was 90% at 8 years, with the type of V-SARR (root remodelling, David II) being a risk factor (P = 0.015). Bicuspid aortic valve (P = 0.26) and initial valve function (P = 0.4) did not impact reoperation. The need of additional valve repair (cusps/commissures) was not linked to reoperation: freedom from aortic valve replacement at 8 years was 84% if cusp repair was performed versus 90% if V-SARR alone was performed (P = 0.218). Marfan syndrome had no impact on survival or on aortic valve replacement. Mid-term survival of patients after V-SARR is comparable with that of a matched general population. The regurgitant bicuspid aortic valve is a favourable substrate for V-SARR. Prophylactic surgery should be performed before symptoms or large aneurysms are present to achieve optimal mid-term outcomes. © The Author 2015. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  17. Takayasu arteritis with middle aortic syndrome and mesenteric ischemia treated by aortic stenting

    Directory of Open Access Journals (Sweden)

    Sarah Morrissey, MD, MA, FRCSC

    2017-09-01

    Full Text Available A 48-year-old woman suffering from Takayasu arteritis presented with middle aortic syndrome consisting of abdominal pain, refractory hypertension with pulmonary edema and pleural effusions, and lower limb ischemia. She failed to improve with high-dose steroid therapy and underwent endovascular stenting of two severe stenoses in the supraceliac and infrarenal aorta. Her symptoms resolved and hypertension improved after the procedure.

  18. Midterm outcome of valve-sparing aortic root replacement in inherited connective tissue disorders.

    Science.gov (United States)

    Tanaka, Hiroshi; Ogino, Hitoshi; Matsuda, Hitoshi; Minatoya, Kenji; Sasaki, Hiroaki; Iba, Yutaka

    2011-11-01

    This study determined the midterm outcome of valve-sparing aortic root replacement for patients with inherited connective tissue disorders. From 1993 to 2008, 94 patients underwent valve-sparing aortic root replacement. Sixty patients (64%), average age 33 years (range, 15 to 61 years), had inherited connective tissue disorders: Marfan syndrome, 54 (92%); Loeys-Dietz syndrome, 5 (8%); and smooth muscle α-actin (ACTA2) mutation in 1. Median preoperative sinus diameter was 52 mm (range, 42 to 76 mm), and moderate/severe aortic regurgitation was present in 14 (23%). Seven (12%, 1993 to 1999) underwent remodeling procedures, and 53 had reimplantation procedures. Cusp repair was performed in 4. Median follow-up was 55 months (range, 1 to 149 months). There were 15 patients in the early term (1993 to 2000) and 45 in the late term (2001 to 2008). Four late deaths occurred (cardiac, 3; aortic, 1), with 10-year survival of 86%. Rates of freedom from aortic valve replacement at 5 and 10 years were 85% and 58% in remodeling and 96% and 58% in reimplantation. Risk factors for reoperations were postprocedure intraoperative aortic insufficiency greater than mild (p = 0.046), remodeling procedure (p = 0.016), and early term (p = 0.0002). One patient (2%) with none/trivial postprocedure aortic insufficiency required aortic valve replacement. Freedom from reoperation in patients with none/trivial postprocedure aortic insufficiency at 5 and 10 years was 100% and 67%. Meticulous control of aortic insufficiency during operation would bring favorable midterm durability in valve-sparing aortic root replacement using a reimplantation technique, even in patients with inherited connective tissue disorders. Copyright © 2011 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  19. Expanding indications for valve-sparing aortic root reconstruction: early and midterm results.

    Science.gov (United States)

    Valo, Johanna; Jokinen, Janne J; Kaarne, Markku; Ihlberg, Leo

    2013-02-01

    Valve-sparing aortic root reconstruction (VSRR) is an accepted method to treat patients with aortic root dilation. The role of the VSRR is less well defined for patients with bicuspid aortic valve, severe aortic valve insufficiency, congenital heart defects, and type A aortic dissection. We studied the clinical outcome of patients who underwent VSRR for expanded indications. Seventy-eight patients underwent VSRR between the 2005 and 2012. Seventy-two patients (92%) underwent reimplantation and 6 patients (8%) were operated on with the remodeling technique. The mean age was 51 ± 12 years (range 24 to 73). For 71 patients (91%), the operation was elective, and for 7 (9%; all with type A aortic dissection), on an emergency basis. Preoperatively, the degree of aortic insufficiency was graded as 2+ or greater for 27 patients (35%). Connective tissue disorder (Marfan or Loeys-Dietz), bicuspid aortic valve, or congenital heart disease was present in 15 (19%), 15 (19%), and 7 patients (9%), respectively. Concomitant aortic valve leaflet repair was performed for 39 patients (50%). The mean follow-up time was 2.4 ± 1.7 years (range, 0.1 to 7.0). Thirty-day mortality was zero. The rate of postoperative complications was low: stroke 3%, renal failure 3%, prosthesis infection 1%, and low cardiac output syndrome 1%. Survival was 100% at 1 year and 97% at 5 years. Freedom from recurrent aortic valve insufficiency (≥2+) during the follow-up was 94%. The midterm results of VSRR in terms of survival, freedom from recurrent aortic valve insufficiency, and the need for reoperation are excellent, even for high-risk patients. Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  20. Restoration of incisal half with edge-up technique using ceramic partial crown in turner's hypoplasia: A case report

    Science.gov (United States)

    Hegde, Shreya; Kundabala, M

    2014-01-01

    This case report describes a rare treatment modality for Turner's hypoplasia done with a very conservative approach for the esthetic and functional problem of the defect. Diagnosis was made as Turner's hypoplasia of upper two central incisors with proximal caries. Treatment planning was done after considering many factors such as conservation of tooth structure, esthetics, occlusion and economy. Tooth preparation was done to receive Edge-up, all ceramic partial crowns for both the upper central incisors,using pressable all ceramic material and cemented with resin cement. PMID:24554869

  1. Aortic compliance in patients with aortic regurgitation. Evaluation with magnetic resonance imaging

    International Nuclear Information System (INIS)

    Murai, Sachiko; Hamada, Seiki; Ueguchi, Takashi

    2005-01-01

    The purpose of this study was to assess by means of cine magnetic resonance imaging (MRI) aortic compliance before and after aortic valve replacement (AVR with SJM (St. Jude Medical, St paul, MN) valve) in patients with aortic regurgitation (AR). Two groups (healthy controls and patients with severe isolated AR) of 10 subjects each were included in this study. Cine MRI was performed at three locations of the aorta, and aortic compliance was calculated by dividing the maximum change in the aortic area by pulse pressure. Cine MRI is useful to assess abnormalities of aortic compliance in patients with AR. Compared with the control group, aortic compliance in the AR group was significantly less in the ascending aorta (p<0.05), decreasing in order of aortic location. After AVR, aortic compliance improved for all locations. Cine MRI enables assessment of aortic biophysical properties such as a compliance for evaluating the progression of AR and the efficacy of treatment. (author)

  2. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    Directory of Open Access Journals (Sweden)

    Burglen Lydie

    2012-03-01

    Full Text Available Abstract Background Pontocerebellar hypoplasia (PCH is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH. Methods Fourteen patients (12 females and two males; aged 16 months-14 years presenting with PCH at neuroimaging and with clinical characteristics unsuggestive of PCH1 or PCH2 were included. The CASK gene screening was performed using Array-CGH and sequencing. Clinical and neuroradiological features were collected. Results We observed a high frequency of patients with a CASK mutation (13/14. Ten patients (8 girls and 2 boys had intragenic mutations and three female patients had a Xp11.4 submicroscopic deletion including the CASK gene. All were de novo mutations. Phenotype was variable in severity but highly similar among the 11 girls and was characterized by psychomotor retardation, severe intellectual disability, progressive microcephaly, dystonia, mild dysmorphism, and scoliosis. Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and optic atrophy, deafness and epilepsy. As expected in an X-linked disease manifesting mainly in females, the boy hemizygous for a splice mutation had a very severe phenotype with nearly no development and refractory epilepsy. We described a mild phenotype in a boy with a mosaic truncating mutation. We found some degree of correlation between severity of the vermis hypoplasia and clinical phenotype. Conclusion This study describes a new series of PCH female patients with CASK inactivating mutations and confirms that

  3. Accuracy of imaging parameters in the prediction of lethal pulmonary hypoplasia secondary to mid-trimester prelabor rupture of fetal membranes: a systematic review and meta-analysis.

    Science.gov (United States)

    van Teeffelen, A S P; Van Der Heijden, J; Oei, S G; Porath, M M; Willekes, C; Opmeer, B; Mol, B W J

    2012-05-01

    In women who have suffered mid-trimester prelabor rupture of membranes (PPROM), prediction of pulmonary hypoplasia is important for optimal management. We performed a systematic review to assess the capacity of imaging parameters to predict pulmonary hypoplasia. We searched for published articles that reported on biometric parameters and allowed the construction of a 2 × 2 table, comparing at least one of these parameters with the occurrence of pulmonary hypoplasia. The selected studies were scored on methodological quality and we calculated sensitivity and specificity of the tests in the prediction of pulmonary hypoplasia and lethal pulmonary hypoplasia. Overall performance was assessed by summary receiver-operating characteristics (sROC) analyses that were performed with bivariate meta-analysis. We detected 13 studies that reported on the prediction of lethal pulmonary hypoplasia. The quality of the included studies was poor to mediocre. The estimated sROC curves for the chest circumference/abdominal circumference ratio and other parameters showed limited accuracy in the prediction of pulmonary hypoplasia. In women with mid-trimester PPROM, the available evidence indicates limited accuracy of biometric parameters in the prediction of pulmonary hypoplasia. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.

  4. Aortic or Mitral Valve Replacement With the Biocor and Biocor Supra

    Science.gov (United States)

    2017-04-26

    Aortic Valve Insufficiency; Aortic Valve Regurgitation; Aortic Valve Stenosis; Aortic Valve Incompetence; Mitral Valve Insufficiency; Mitral Valve Regurgitation; Mitral Valve Stenosis; Mitral Valve Incompetence

  5. A History of Thoracic Aortic Surgery.

    Science.gov (United States)

    McFadden, Paul Michael; Wiggins, Luke M; Boys, Joshua A

    2017-08-01

    Ancient historical texts describe the presence of aortic pathology conditions, although the surgical treatment of thoracic aortic disease remained insurmountable until the 19th century. Surgical treatment of thoracic aortic disease then progressed along with advances in surgical technique, conduit production, cardiopulmonary bypass, and endovascular technology. Despite radical advances in aortic surgery, principles established by surgical pioneers of the 19th century hold firm to this day. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. THE IMPACT OF DIAGNOSTIC DISCREPANCIES IN AORTIC DISSECTION MANAGEMENT

    Directory of Open Access Journals (Sweden)

    Abdalla Hassan

    2016-01-01

    Full Text Available Aortic dissection is uncommon with high mortality rate if untreated. We report a challenging case of long segment aortic dissection in which the dissection type was very difficult to identify due to limitations of the available imaging studies. 66-year-old male presented to us with 3 days history of chest pain and difficulty breathing. He is known to be hypertensive. In the emergency room, patient has systolic blood pressure >190. Chest X-ray showed widening of mediastinum. CT angiography of chest and abdomen showed an acute dissection of the thoracic aorta extending from the mid ascending aorta to the infra-renal aorta suggestive of Stanford type A aortic dissection. Transthoracic and Trans-esophageal echocardiography revealed a partially calcified intimal flap in the distal portion of the arch and in the descending thoracic aorta suggestive of Stanford type B aortic dissection. Medical treatment started, and repeated CT angiography was obtained and it confirmed type B aortic dissection. One week after discharge, patient was readmitted with severe neck pain and difficulty breathing. CT chest without contrast showed grossly stable appearance of type A dissection consistent with the first CT angiography. Cardiothoracic surgery immediately reevaluated the situation and recommended surgical intervention.

  7. Does atorvastatin induce aortic smooth muscle cell apoptosis in vivo?

    Science.gov (United States)

    Doyon, Marielle; Hale, Taben Mary; Huot-Marchand, Julie-Emilie; Wu, Rong; de Champlain, Jacques; DeBlois, Denis

    2011-01-01

    It has been reported that HMG-CoA reductase inhibitors such as atorvastatin induce vascular smooth muscle cell (SMC) apoptosis in vitro. However, this effect remains to be demonstrated in vivo. The present studies were designed to test the ability of atorvastatin to induce SMC apoptosis in vivo, using the spontaneously hypertensive rat (SHR) as a well-known reference model of SMC apoptosis induction in vivo by cardiovascular drugs including the calcium channel blocker amlodipine. Atorvastatin was administered to SHR for 3 or 6 weeks either alone or together with amlodipine, a drug combination clinically available to patients. Primary endpoints included aortic medial hypertrophy and aortic SMC hyperplasia, internucleosomal DNA fragmentation and expression of the apoptosis regulatory proteins Bax and Bcl-2. The SHR aorta showed no evidence of SMC apoptosis induction by atorvastatin, even at the high dose of 50 mg kg(-1) day(-1), although the statin significantly reduced oxidative stress after 3 weeks and blood pressure after 6 weeks of administration. Amlodipine-induced regression of aortic hypertophy and aortic SMC hyperplasia were dose- and time-dependent, but there was no interaction between atorvastatin and amlodipine in modulating the primary endpoints. These results do not support the notion that atorvastatin induces SMC apoptosis in the aortic media in vivo. Copyright © 2010. Published by Elsevier Inc.

  8. Aortic Atherosclerosis: A Common Source of Cerebral Emboli, Often Overlooked!

    Science.gov (United States)

    Ismail, Imtiaz; Agarwal, Anushree; Aggarwal, Saurabh; Al-Khafaji, Nawfal; Gupta, Navdeep; Badi, Hani; Chopra, Aashish; Khosla, Sandeep; Arora, Rohit

    2016-01-01

    Aortic atherosclerotic plaques are usually seen in males older than 55 years who are known to have risk factors of atherosclerosis. Recent large series of consecutive stroke patients reported that the prevalence of aortic atheromatous plaques in patients with stroke is about 21%-27%, which is in the same magnitude when compared with the prevalence of carotid disease (10%-13%) and atrial fibrillation (18%-30%). Atheromatous plaques are composed of a lipid pool, a fibrous cap, smooth muscle cells, and mononuclear cell infiltration with calcification. Aortic plaques can cause embolization to brain, extremities, or visceral organs. Atheroembolization can occur spontaneously or as a result of manipulation during cardiac or vascular surgery. Only few cases of cerebral embolization from an aortic plaque in the absence of any manipulation have been described. Although few atherosclerotic plaques can be visualized on the aortogram, transesophageal echocardiogram remains a preferred modality for diagnosis in such cases. We present a case of cerebral embolism arising from a mobile noncalcified complex aortic arch plaque diagnosed on a transesophageal echocardiogram and review the literature on its diagnosis, clinical implications, and management.

  9. A planning system for transapical aortic valve implantation

    Science.gov (United States)

    Gessat, Michael; Merk, Denis R.; Falk, Volkmar; Walther, Thomas; Jacobs, Stefan; Nöttling, Alois; Burgert, Oliver

    2009-02-01

    Stenosis of the aortic valve is a common cardiac disease. It is usually corrected surgically by replacing the valve with a mechanical or biological prosthesis. Transapical aortic valve implantation is an experimental minimally invasive surgical technique that is applied to patients with high operative risk to avoid pulmonary arrest. A stented biological prosthesis is mounted on a catheter. Through small incisions in the fifth intercostal space and the apex of the heart, the catheter is positioned under flouroscopy in the aortic root. The stent is expanded and unfolds the valve which is thereby implanted into the aortic root. Exact targeting is crucial, since major complications can arise from a misplaced valve. Planning software for the perioperative use is presented that allows for selection of the best fitting implant and calculation of the safe target area for that implant. The software uses contrast enhanced perioperative DynaCT images acquired under rapid pacing. In a semiautomatic process, a surface segmentation of the aortic root is created. User selected anatomical landmarks are used to calculate the geometric constraints for the size and position of the implant. The software is integrated into a PACS network based on DICOM communication to query and receive the images and implants templates from a PACS server. The planning results can be exported to the same server and from there can be rertieved by an intraoperative catheter guidance device.

  10. Aortic root replacement with a pulmonary autograft

    NARCIS (Netherlands)

    R.B. Hokken (Raymond)

    1997-01-01

    textabstractAortic valve disease in the pediatric age group is usually a consequence of congenital aortic stenosis, which may be isolated or may be a part of an anomaly of the left ventricular outflow tract or the aortic root. Management of these patients is difficult. Neonates and infants

  11. Does increased aortic stiffness predict reduced coronary flow velocity reserve in patients with suspected coronary artery disease?

    Science.gov (United States)

    Nemes, A; Csanády, M; Forster, T

    2012-09-01

    In recent studies, reduction in coronary flow velocity reserve (CFR) has been demonstrated in patients with increased aortic stiffness. Stress transoesophageal echocardiography (TEE) is a suitable method for the simultaneous evaluation of CFR and aortic stiffness parameters. The present study was designed to test whether increased echocardiography-derived aortic elastic modulus [E(p)] predicts impaired CFR in patients with suspected coronary artery disease (CAD). The present study comprised 158 patients with suspected CAD. A CFR value reduced CFR (HE 1.10, p < 0.05). Increased aortic stiffness predicts impaired CFR in patients with suspected CAD.

  12. Diagnostic imaging of acute aortic dissection; Evaluation of thrombosed type aortic dissection by CT and angiography

    Energy Technology Data Exchange (ETDEWEB)

    Ohya, Tohru; Kumazaki, Tatsuo (Nippon Medical School, Tokyo (Japan))

    1991-01-01

    One hundred and nineteen patients with aortic dissection who underwent diagnostic imaging were reviewed and angiographic findings as well as those of CT were analysed. Thirty eight cases (43.1%) had non-contrast opacified false lumen, the type of which we call 'thrombosed type aortic dissection'. A comparative study of the thrombosed type with the patent type of false lumens was made particularly from the stand point of the characteristic diagnostic imagings (CT and angiography). At the same time, the pitfalls of these imagings in thrombosed type aortic dissection were studied. At the onset the average age of thrombosed type was 62.3 years old, while that of the patent type was 57.3. A statistical significance between the two groups was p<0.05. Thrombosed type in all cases was caused by atherosclerosis, whereas patent type was caused by the Marfan's syndrome in 11 cases. Other clinical findings, such as initial symptoms and blood pressure revealed no significant differences between the two groups. Pre-contrast CT in acute thrombosed type aortic dissection showed 'hyperdense crescent sign' in 89.4%. However, in 3 cases with thrombosed type in which the pre-contrast CT showed 'hyperdense crescent sign' contrast-enhanced CT detected no clear evidence of aortic dissection in the same site. This was due to obscurity induced by contrast medium. Angiographic findings of thrombosed type were classified into 3 groups: normal type, stenosed true lumen type and ulcer-like projection type. The incidence of normal type was estimated to be 48.4%, whereas stenosed true lumen type was 24.2% and ulcer-like projection was 27.7%. The present study concluded that thrombosed type is not rare in acute aortic dissection and contrast-enhanced CT as well as pre-contrast CT, is of great value in diagnosing thrombosed type. 'Hyperdense crescent sign' in pre-contrast CT is characteristic of intramural hematoma. (author).

  13. Left main coronary artery obstruction by dislodged native-valve calculus after transcatheter aortic valve replacement.

    Science.gov (United States)

    Durmaz, Tahir; Ayhan, Huseyin; Keles, Telat; Aslan, Abdullah Nabi; Erdogan, Kemal Esref; Sari, Cenk; Bilen, Emine; Akcay, Murat; Bozkurt, Engin

    2014-08-01

    Transcatheter aortic valve replacement can be an effective, reliable treatment for severe aortic stenosis in surgically high-risk or ineligible patients. However, various sequelae like coronary artery obstruction can occur, not only in the long term, but also immediately after the procedure. We present the case of a 78-year-old woman whose left main coronary artery became obstructed with calculus 2 hours after the transfemoral implantation of an Edwards Sapien XT aortic valve. Despite percutaneous coronary intervention in that artery, the patient died. This case reminds us that early recognition of acute coronary obstruction and prompt intervention are crucial in patients with aortic stenosis who have undergone transcatheter aortic valve replacement.

  14. Renal failure caused by a partly calcified aortic aneurysm in a patient with dabigatran therapy

    Science.gov (United States)

    Jud, Philipp; Gary, Thomas; Tiesenhausen, Kurt; Portugaller, Rupert; Hackl, Gerald; Brodmann, Marianne

    2017-01-01

    Abstract Rationale: Abdominal aortic aneurysms (AAAs) are mostly asymptomatic. If aortic aneurysms become symptomatic, complications include peripheral embolization, acute aortic occlusion, and aortic rupture. However, there are also unusual complications caused by aortic aneurysms. Patient concerns: An 87-old male with dabigatran therapy presented with newly developed melena and acute renal failure. Radiological imaging revealed an AAA with thrombotic and calcified deposits which affected the renal arteries. Diagnoses: Gastrointestinal bleeding and hypercoagulation caused by renal failure which was triggered in turn due to an AAA. Interventions: Adapted antihypertensive therapy and initiation of simvastatin 40mg once daily as well as antiplatelet therapy with aspirin 50 mg once daily due to patient's refusal of any aneurysm intervention. Outcome: Neither bleeding event nor aneurysm rupture occurred with the adapted antihypertensive therapy, simvastatin and aspirin. Lessons: Nonruptured AAAs can cause rare, unusual, and even life-threatening complications depending on their size and anatomical position. PMID:28445318

  15. Indication of endovascular treatment of type B aortic dissection - Literature review

    Science.gov (United States)

    Duarte, João Jackson; Pontes, José Carlos Dorsa Vieira; Benfatti, Ricardo Adala; Ferrachini, Adriana Lugo; Karakhanian, Walter Kegham; Razuk Filho, Álvaro

    2014-01-01

    Aortic dissection is a cardiovascular event of high mortality if not early diagnosed and properly treated. In Stanford type A aortic dissection, there is the involvement of the ascending aorta, whereas in type B the ascending aorta is not affected. The treatment of type A aortic dissection is mainly surgical. The hospital mortality of type B aortic dissection surgical treatment is approximately 20%, while medical therapy is 10%. However, half the patients who are discharged from hospital after medical treatment, progress to aortic complications in the following years, and the mortality in three to five years may reach 25-50%. In addition, the surgical treatment of aortic complications after medical treatment, has also a significant mortality. This way, the endovascular treatment comes up as an interesting alternative of a less invasive treatment for this disease. They presented a mortality rate lower than 10% with more than 80% success rate of occlusion and thrombosis of the false lumen. The INSTEAD TRIAL, which randomized patients with uncomplicated type B aortic dissection for optimal medical therapy and endovascular treatment in addition to optimal medical therapy, showed that after three years of follow up, patients who underwent endovascular treatment had lower mortality and aorta-related complications. Therefore, there is a current tendency to recommend the endovascular treatment as a standard for the treatment of type B aortic dissection PMID:25372915

  16. Imaging of aortic valve dynamics in 4D OCT

    Directory of Open Access Journals (Sweden)

    Schnabel Christian

    2015-09-01

    Full Text Available The mechanical components of the heart, especially the valves and leaflets, are enormous stressed during lifetime. Therefore, those structures undergo different pathophysiological tissue transformations which affect cardiac output and in consequence living comfort of affected patients. These changes may lead to calcific aortic valve stenosis (AVS, the major heart valve disease in humans. The knowledge about changes of the dynamic behaviour during the course of this disease and the possibility of early stage diagnosis is of particular interest and could lead to the development of new treatment strategies and drug based options of prevention or therapy. 4D optical coherence tomography (OCT in combination with high-speed video microscopy were applied to characterize dynamic behaviour of the murine aortic valve and to characterize dynamic properties during artificial stimulation. We present a promising tool to investigate the aortic valve dynamics in an ex vivo disease model with a high spatial and temporal resolution using a multimodal imaging setup.

  17. Lipoprotein(a Induces Human Aortic Valve Interstitial Cell Calcification

    Directory of Open Access Journals (Sweden)

    Bin Yu, PhD

    2017-08-01

    Full Text Available Lipoprotein(a, or Lp(a, significantly increased alkaline phosphatase activity, release of phosphate, calcium deposition, hydroxyapatite, cell apoptosis, matrix vesicle formation, and phosphorylation of signal transduction proteins; increased expression of chondro-osteogenic mediators; and decreased SOX9 and matrix Gla protein (p < 0.001. Inhibition of MAPK38 and GSK3β significantly reduced Lp(a-induced calcification of human aortic valve interstitial cells (p < 0.001. There was abundant presence of Lp(a and E06 immunoreactivity in diseased human aortic valves. The present study demonstrates a causal effect for Lp(a in aortic valve calcification and suggests that interfering with the Lp(apathway could provide a novel therapeutic approach in the management of this debilitating disease.

  18. Endovascular treatment of acute type B dissection complicating aortic coarctation.

    Science.gov (United States)

    Kassaian, Seyed Ebrahim; Abbasi, Kyomars; Mousavi, Mehdi; Sahebjam, Mohammad

    2013-01-01

    Surgical treatment poses a high risk to patients with concomitant aortic coarctation and dissection, and an interventional approach could be an alternative. We describe the case of a 52-year-old man with a long history of untreated hypertension and aortic coarctation who emergently presented at our institution with an acute Stanford type B dissection. The patient's elevated serum creatinine level, perfusion deficit in the right lower limb, and hypertension did not respond to medical therapy, and he did not consent to surgery. By endovascular means, we used a self-expandable stent-graft to cover the entry point of the dissection; then, we deployed a balloon-expandable bare-metal stent to correct residual stenosis. To our knowledge, this is the first report of the endovascular treatment of aortic coarctation complicated by type B dissection.

  19. Chylothorax complicating thoracic aortic surgery.

    Science.gov (United States)

    Kanakis, Meletios A; Misthos, Panagiotis; Kokotsakis, John N; Lioulias, Achilleas G

    2011-07-01

    Chylothorax is a very rare complication of patients undergoing thoracic aortic aneurysm repair. Possible mechanisms of this condition during thoracic aorta operations and current therapeutic strategies are analyzed according to our experience and thorough search of the English literature. Current experience with chylothorax occurring during thoracic aortic surgery is analyzed in this review by collecting data retrieved from English literature research. Significant risk factors for postoperative chylothorax development after thoracic aorta surgical procedures are thoracic aortic reoperations and descending thoracic repairs. Various treatment modalities from conservative to operative intervention have been proposed. Currently, the morbidity and mortality have improved due to prompt management. Surgical intervention is needed when response to conservative treatment has failed.  © 2011 Wiley Periodicals, Inc.

  20. [Single coronary artery and right aortic arch].

    Science.gov (United States)

    Martínez-Quintana, Efrén; Rodríguez-González, Fayna

    2015-01-01

    Coronary anomalies are mostly asymptomatic and diagnosed incidentally during coronary angiography or echocardiography. However, they must be taken into account in the differential diagnosis of angina, dyspnea, syncope, acute myocardial infarction or sudden death in young patients. The case is presented of two rare anomalies, single coronary artery originating from right sinus of Valsalva and right aortic arch, in a 65 year-old patient with atherosclerotic coronary artery disease treated percutaneously. Copyright © 2014 Sociedad Española de Arteriosclerosis. Published by Elsevier España. All rights reserved.

  1. Weight reduction and aortic stiffness in obese children and adolescents

    DEFF Research Database (Denmark)

    Hvidt, K. N.; Olsen, M. H.; Ibsen, H.

    2015-01-01

    Little is known about the effect of weight reduction on aortic stiffness and especially so in the young. The present study investigates whether weight reduction influences aortic stiffness in obese children and adolescents. Carotid-femoral pulse wave velocity (cfPWV) and augmentation index at heart...... rate 75 (AIx@HR75) were measured in 72 obese patients aged 10-18 years at baseline and after 1-year of lifestyle intervention (follow-up). We found that although the degree of obesity decreased (Delta body mass index z-score: -0.24 +/- 0.45, P ....27 +/- 0.47 ms(-1), P obesity measures. No significant change...

  2. Long-Term Survival on Medical Therapy Alone after Blunt-Trauma Aortic Regurgitation: Report of a New Case with Summary of 95 Others.

    Science.gov (United States)

    Tsugu, Toshimitsu; Murata, Mitsushige; Mahara, Keitaro; Iwanaga, Shiro; Fukuda, Keiichi

    2016-10-01

    Aortic regurgitation resulting from blunt chest trauma has been reported only 95 times, to our knowledge. The noncoronary and right coronary cusps are the cardiac structures most often injured. Although the aortic leaflets can appear to be undamaged after nonpenetrating trauma, they can have pathologic abnormalities and insufficient function. Some cases of posttraumatic aortic regurgitation progress slowly. Aortic valve replacement is the optimal treatment. We present the case of a then-62-year-old man who has lived more than 5 years after blunt-trauma aortic regurgitation. His is the only case of long-term survival on medical therapy alone among the 96 cases summarized in this report.

  3. Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly

    NARCIS (Netherlands)

    Welting, T.J.M.; Mattijssen, S.; Peters, F.M.; Doorn, N.L. van; Dekkers, L.; Venrooij, W.J.W. van; Heus, H.A.; Bonafe, L.; Pruijn, G.J.M.

    2007-01-01

    Cartilage-hair hypoplasia (CHH) is caused by mutations in the gene encoding the RNA component of RNase MRP. Currently it is unknown how these mutations affect the function of this endoribonuclease. In this study we investigated the effect of mutations in the P3 domain on protein binding and RNA

  4. Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia

    NARCIS (Netherlands)

    Aubert, Geraldine; Strauss, Kevin A; Lansdorp, Peter M; Rider, Nicholas L

    2017-01-01

    Background: Mutations in the long noncoding RNA RNase component of the mitochondrial RNA processing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia (CHH). The CHH disease phenotype has some overlap with dyskeratosis congenita, a wellknown "telomere

  5. Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

    NARCIS (Netherlands)

    van Ommen, C. H.; Peters, M.; Barth, P. G.; Vreken, P.; Wanders, R. J.; Jaeken, J.

    2000-01-01

    An 8-year-old boy is described with borderline cognitive impairment, cerebellar hypoplasia, a stroke-like episode, and venous thrombosis of the left leg after a period of immobilization. The pattern of multiple abnormalities in blood coagulation suggested carbohydrate-deficient glycoprotein syndrome

  6. Transcatheter Aortic Valve Implantation in Lower-Risk Patients With Aortic Stenosis: Is It Justified to Be the Preferred Treatment?

    Science.gov (United States)

    Abdelghani, Mohammad; Serruys, Patrick W

    2016-04-01

    Transcatheter aortic valve implantation underwent progressive improvements until it became the default therapy for inoperable patients, and a recommended therapy in high-risk operable patients with symptomatic severe aortic stenosis. In the lower-risk patient strata, a currently costly therapy that still has important complications with questionable durability is competing with the established effective and still-improving surgical replacement. This report tries to weigh the clinical evidence, the recent technical improvements, the durability, and the cost-effectiveness claims supporting the adoption of transcatheter aortic valve implantation in intermediate-low risk patients. The importance of appropriate patients' risk stratification and a more comprehensive approach to estimate that risk are also emphasized in the present report. © 2016 American Heart Association, Inc.

  7. MMP-2 Isoforms in Aortic Tissue and Serum of Patients with Ascending Aortic Aneurysms and Aortic Root Aneurysms

    Science.gov (United States)

    Tscheuschler, Anke; Meffert, Philipp; Beyersdorf, Friedhelm; Heilmann, Claudia; Kocher, Nadja; Uffelmann, Xenia; Discher, Philipp; Siepe, Matthias; Kari, Fabian A.

    2016-01-01

    Objective The need for biological markers of aortic wall stress and risk of rupture or dissection of ascending aortic aneurysms is obvious. To date, wall stress cannot be related to a certain biological marker. We analyzed aortic tissue and serum for the presence of different MMP-2 isoforms to find a connection between serum and tissue MMP-2 and to evaluate the potential of different MMP-2 isoforms as markers of high wall stress. Methods Serum and aortic tissue from n = 24 patients and serum from n = 19 healthy controls was analyzed by ELISA and gelatin zymography. 24 patients had ascending aortic aneurysms, 10 of them also had aortic root aneurysms. Three patients had normally functioning valves, 12 had regurgitation alone, eight had regurgitation and stenosis and one had only stenosis. Patients had bicuspid and tricuspid aortic valves (9/15). Serum samples were taken preoperatively, and the aortic wall specimen collected during surgical aortic repair. Results Pro-MMP-2 was identified in all serum and tissue samples. Pro-MMP-2 was detected in all tissue and serum samples from patients with ascending aortic/aortic root aneurysms, irrespective of valve morphology or other clinical parameters and in serum from healthy controls. We also identified active MMP-2 in all tissue samples from patients with ascending aortic/aortic root aneurysms. None of the analyzed serum samples revealed signals relatable to active MMP-2. No correlation between aortic tissue total MMP-2 or tissue pro-MMP-2 or tissue active MMP-2 and serum MMP-2 was found and tissue MMP-2/pro-MMP-2/active MMP-2 did not correlate with aortic diameter. This evidence shows that pro-MMP-2 is the predominant MMP-2 species in serum of patients and healthy individuals and in aneurysmatic aortic tissue, irrespective of aortic valve configuration. Active MMP-2 species are either not released into systemic circulation or not detectable in serum. There is no reliable connection between aortic tissue—and serum MMP-2

  8. Transcatheter Aortic Valve Replacement for Perceval Sutureless Aortic Valve Failure.

    Science.gov (United States)

    Kalra, Ankur; Reyes, Manuel; Yang, Eric Y; Little, Stephen H; Nabi, Faisal; Barker, Colin M; Ramchandani, Mahesh; Reul, Ross M; Reardon, Michael J; Kleiman, Neal S

    2017-06-01

    As experience with Perceval aortic prosthesis and valve-in-valve TAVR grows, it will be crucial to meticulously document short- and long-term follow-up for establishment of real-world safety and durability of these new technologies.

  9. Unusual congenital pulmonary anomaly with presumed left lung hypoplasia in a young dog.

    Science.gov (United States)

    Lee, C M; Kim, J H; Kang, M H; Eom, K D; Park, H M

    2014-05-01

    A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog. © 2014 British Small Animal Veterinary Association.

  10. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

    Science.gov (United States)

    Parry, David A; Logan, Clare V; Stegmann, Alexander P A; Abdelhamed, Zakia A; Calder, Alistair; Khan, Shabana; Bonthron, David T; Clowes, Virginia; Sheridan, Eamonn; Ghali, Neeti; Chudley, Albert E; Dobbie, Angus; Stumpel, Constance T R M; Johnson, Colin A

    2013-12-05

    Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. To identify the genetic basis of SAMS, we used molecular karyotyping and whole-exome sequencing (WES) to study small, unrelated families. Filtering of variants from the WES data included segregation analysis followed by comparison of in-house exomes. We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox protein, a paired-like homeodomain transcription factor. This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. Previously, Goosecoid has been shown to be a determinant at the Xenopus gastrula organizer region and a segment-polarity determinant in Drosophila. In the present report, we present data on Goosecoid protein localization in staged mouse embryos. These data and the SAMS clinical phenotype both suggest that Goosecoid is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals, particularly during shoulder and hip formation. Our findings confirm that Goosecoid has an essential role in human craniofacial and joint development and suggest that Goosecoid is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  11. Thoracic Endovascular Aortic Repair into the False Lumen in Chronic Aortic Dissection.

    Science.gov (United States)

    Kamman, Arnoud V; Williams, David M; Patel, Himanshu J

    2017-07-01

    Deployment of a stent graft for the treatment of aortic dissections is normally performed in the true lumen. However, in some rare occasions landing in the false lumen may be appropriate. We present 2 different cases of chronic aortic dissection, where we opted to land the stent graft into the false lumen to treat the associated aneurysm. For the first case, the goal of thoracic endovascular aortic repair (TEVAR) was to exclude the aneurysm from within the false lumen because of a slit-like true lumen. In the second case, the visceral arteries came off the false lumen, with the renal vessels from the true lumen. False lumen TEVAR was performed, and the infrarenal aorta fenestrated, as to ensure adequate perfusion. These different clinical scenarios show how false lumen TEVAR for chronic dissections with associated aneurysms can be an alternative treatment approach and highlight the importance of assessing the origin of branch vessels and the possible necessity of reperfusion of these, before TEVAR is performed. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia

    Science.gov (United States)

    Lauda, Alexander; Bruehschwein, Andreas; Ficek, Joanna; Schmidt, Martin J.; Klima, André; Meyer-Lindenberg, Andrea; Fischer, Andrea

    2018-01-01

    Cerebellar and hindbrain malformations, such as cerebellar hypoplasia (CH), vermis hypoplasia, and Dandy–Walker malformation, occur in dogs as well as in humans. Neuroimaging is essential for a precise description of these malformations and defining translational animal models. Neuroimaging is increasingly performed in puppies, but there is a lack of data on developmental changes in the caudal fossa, which can impair assessment of caudal fossa size in this age group. The purpose of this study was to validate caudal fossa ratio (CFR) in dogs and to explore CFR in Eurasier dogs with genetic CH. CFR was calculated from midsagittal brain images of 130 dogs as caudal fossa area/total cranial cavity area. In addition, the volume of the caudal fossa was measured in 64 randomly selected dogs from this group. Repeated measurements were used to investigate inter- and intra-rater variability and influence of imaging modality. Furthermore, the influence of age, weight, and breed was explored. The CFR was a reliable parameter with negligible influence from the examiners, imaging modality, and weight of the dog. The midsagittal area of the caudal fossa and the volume of the caudal fossa correlated closely with each other. In this study, we observed a smaller CFR in puppies. The CFR in adult dogs lies within 0.255 and 0.330, while CFR is smaller in puppies up to 4 months of age. Besides age, there was also an effect of breed, which should be explored in larger data sets. Measurements of CFR in Eurasier dogs with genetic CH caused by a mutation in the very-low-density-lipoprotein-receptor gene revealed the presence of two variants, one with an enlarged caudal fossa and one with a normal to small caudal fossa. This observation indicates that there is phenotypic heterogeneity and interaction between the developing cerebellum and the surrounding mesenchyme in this animal model. PMID:29404343

  13. Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia

    Directory of Open Access Journals (Sweden)

    Alexander Lauda

    2018-01-01

    Full Text Available Cerebellar and hindbrain malformations, such as cerebellar hypoplasia (CH, vermis hypoplasia, and Dandy–Walker malformation, occur in dogs as well as in humans. Neuroimaging is essential for a precise description of these malformations and defining translational animal models. Neuroimaging is increasingly performed in puppies, but there is a lack of data on developmental changes in the caudal fossa, which can impair assessment of caudal fossa size in this age group. The purpose of this study was to validate caudal fossa ratio (CFR in dogs and to explore CFR in Eurasier dogs with genetic CH. CFR was calculated from midsagittal brain images of 130 dogs as caudal fossa area/total cranial cavity area. In addition, the volume of the caudal fossa was measured in 64 randomly selected dogs from this group. Repeated measurements were used to investigate inter- and intra-rater variability and influence of imaging modality. Furthermore, the influence of age, weight, and breed was explored. The CFR was a reliable parameter with negligible influence from the examiners, imaging modality, and weight of the dog. The midsagittal area of the caudal fossa and the volume of the caudal fossa correlated closely with each other. In this study, we observed a smaller CFR in puppies. The CFR in adult dogs lies within 0.255 and 0.330, while CFR is smaller in puppies up to 4 months of age. Besides age, there was also an effect of breed, which should be explored in larger data sets. Measurements of CFR in Eurasier dogs with genetic CH caused by a mutation in the very-low-density-lipoprotein-receptor gene revealed the presence of two variants, one with an enlarged caudal fossa and one with a normal to small caudal fossa. This observation indicates that there is phenotypic heterogeneity and interaction between the developing cerebellum and the surrounding mesenchyme in this animal model.

  14. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children

    Energy Technology Data Exchange (ETDEWEB)

    Bruckheimer, Elchanan, E-mail: elchananb@bezeqint.net; Dagan, Tamir [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel); Atar, Eli; Schwartz, Michael [Schneider Children' s Medical Center Israel, Section of Radiology (Israel); Kachko, Ludmila [Schneider Children' s Medical Center Israel, Section of Anesthesiology (Israel); Superina, Riccardo; Amir, Gabriel [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel); Shapiro, Rivka [Schneider Children' s Medical Center Israel, Section of Gastroenterology (Israel); Birk, Einat [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel)

    2013-12-15

    Purpose: Congenital portosystemic shunts (CPSS) with portal venous hypoplasia cause hyperammonemia. Acute shunt closure results in portal hypertension. A transcatheter method of staged shunt reduction to afford growth of portal vessels followed by shunt closure is reported. Methods: Pressure measurements and angiography in the CPSS or superior mesenteric artery (SMA) during temporary occlusion of the shunt were performed. If vessels were diminutive and the pressure was above 18 mmHg, a staged approach was performed, which included implantation of a tailored reducing stent to reduce shunt diameter by {approx}50 %. Recatheterization was performed approximately 3 months later. If the portal pressure was below 18 mmHg and vessels had developed, the shunt was closed with a device. Results: Six patients (5 boys, 1 girl) with a median age of 3.3 (range 0.5-13) years had CPSS portal venous hypoplasia and hyperammonemia. Five patients underwent staged closure. One patient tolerated acute closure. One patient required surgical shunt banding because a reducing stent could not be positioned. At median follow-up of 3.8 (range 2.2-8.4) years, a total of 21 procedures (20 transcatheter, 1 surgical) were performed. In all patients, the shunt was closed with a significant reduction in portal pressure (27.7 {+-} 11.3 to 10.8 {+-} 1.8 mmHg; p = 0.016), significant growth of the portal vessels (0.8 {+-} 0.5 to 4.0 {+-} 2.4 mm; p = 0.037), and normalization of ammonia levels (202.1 {+-} 53.6 to 65.7 {+-} 9.6 {mu}mol/L; p = 0.002) with no complications. Conclusion: Staged CPSS closure is effective in causing portal vessel growth and treating hyperammonemia.

  15. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children

    International Nuclear Information System (INIS)

    Bruckheimer, Elchanan; Dagan, Tamir; Atar, Eli; Schwartz, Michael; Kachko, Ludmila; Superina, Riccardo; Amir, Gabriel; Shapiro, Rivka; Birk, Einat

    2013-01-01

    Purpose: Congenital portosystemic shunts (CPSS) with portal venous hypoplasia cause hyperammonemia. Acute shunt closure results in portal hypertension. A transcatheter method of staged shunt reduction to afford growth of portal vessels followed by shunt closure is reported. Methods: Pressure measurements and angiography in the CPSS or superior mesenteric artery (SMA) during temporary occlusion of the shunt were performed. If vessels were diminutive and the pressure was above 18 mmHg, a staged approach was performed, which included implantation of a tailored reducing stent to reduce shunt diameter by ∼50 %. Recatheterization was performed approximately 3 months later. If the portal pressure was below 18 mmHg and vessels had developed, the shunt was closed with a device. Results: Six patients (5 boys, 1 girl) with a median age of 3.3 (range 0.5–13) years had CPSS portal venous hypoplasia and hyperammonemia. Five patients underwent staged closure. One patient tolerated acute closure. One patient required surgical shunt banding because a reducing stent could not be positioned. At median follow-up of 3.8 (range 2.2–8.4) years, a total of 21 procedures (20 transcatheter, 1 surgical) were performed. In all patients, the shunt was closed with a significant reduction in portal pressure (27.7 ± 11.3 to 10.8 ± 1.8 mmHg; p = 0.016), significant growth of the portal vessels (0.8 ± 0.5 to 4.0 ± 2.4 mm; p = 0.037), and normalization of ammonia levels (202.1 ± 53.6 to 65.7 ± 9.6 μmol/L; p = 0.002) with no complications. Conclusion: Staged CPSS closure is effective in causing portal vessel growth and treating hyperammonemia

  16. Type B Aortic Dissection After the Use of Tadalafil

    NARCIS (Netherlands)

    Lameijer, Charlotte M.; Tielliu, Ignace F. J.; van Driel, Mels F.; Zeebregts, Clark J.

    A 63-year-old male patient with a type B aortic dissection after the use of tadalafil, a phosphodiesterase type 5 inhibitor, is presented. The possible role of a novel predisposing factor-sexual activity combined with tadalafil-is reviewed. This report and three other cases add a new dimension to

  17. Deep gluteal grounding pad burn after abdominal aortic aneurysm repair.

    Science.gov (United States)

    Sapienza, Paolo; Venturini, Luigi; Cigna, Emanuele; Sterpetti, Antonio V; Biacchi, Daniele; di Marzo, Luca

    2015-06-24

    Although skin burns at the site of grounding pad are a known risk of surgery, their exact incidence is unknown. We first report the case of a patient who presented a deep gluteal burn at the site of the grounding pad after an abdominal aortic aneurism repair, the etiology and the challenging treatment required to overcome this complication.

  18. Trans-aortic repair of a sinus of valsalva aneurysm.

    Science.gov (United States)

    Kapetanakis, Emmanouil I; Ieromonachos, Constantinos; Stavridis, George; Antoniou, Theofani A; Athanassopoulos, George; Cokkinos, Dennis V; Alivizatos, Peter A

    2007-01-01

    Sinus of Valsalva aneurysms are rare and vary in their presentation and approach of surgical repair. We report on a case of isolated right sinus of Valsalva aneurysm that underwent successful excision and patch repair with individual sutures placed through the annulus of the aortic valve.

  19. Influence of the Quantity of Aortic Valve Calcium on the Agreement Between Automated 3-Dimensional Transesophageal Echocardiography and Multidetector Row Computed Tomography for Aortic Annulus Sizing.

    Science.gov (United States)

    Podlesnikar, Tomaz; Prihadi, Edgard A; van Rosendael, Philippe J; Vollema, E Mara; van der Kley, Frank; de Weger, Arend; Ajmone Marsan, Nina; Naji, Franjo; Fras, Zlatko; Bax, Jeroen J; Delgado, Victoria

    2018-01-01

    Accurate aortic annulus sizing is key for selection of appropriate transcatheter aortic valve implantation (TAVI) prosthesis size. The present study compared novel automated 3-dimensional (3D) transesophageal echocardiography (TEE) software and multidetector row computed tomography (MDCT) for aortic annulus sizing and investigated the influence of the quantity of aortic valve calcium (AVC) on the selection of TAVI prosthesis size. A total of 83 patients with severe aortic stenosis undergoing TAVI were evaluated. Maximal and minimal aortic annulus diameter, perimeter, and area were measured. AVC was assessed with computed tomography. The low and high AVC burden groups were defined according to the median AVC score. Overall, 3D TEE measurements slightly underestimated the aortic annulus dimensions as compared with MDCT (mean differences between maximum, minimum diameter, perimeter, and area: -1.7 mm, 0.5 mm, -2.7 mm, and -13 mm 2 , respectively). The agreement between 3D TEE and MDCT on aortic annulus dimensions was superior among patients with low AVC burden (AVC burden (≥3,025 arbitrary units). The interobserver variability was excellent for both methods. 3D TEE and MDCT led to the same prosthesis size selection in 88%, 95%, and 81% of patients in the total population, the low, and the high AVC burden group, respectively. In conclusion, the novel automated 3D TEE imaging software allows accurate and highly reproducible measurements of the aortic annulus dimensions and shows excellent agreement with MDCT to determine the TAVI prosthesis size, particularly in patients with low AVC burden. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  20. Prediction of aortic dilation in Turner syndrome - enhancing the use of serial cardiovascular magnetic resonance

    Science.gov (United States)

    2013-01-01

    Background Identification of the subset females with Turner syndrome who face especially high risk of aortic dissection is difficult, and more optimal risk assessment is pivotal in order to improve outcomes. This study aimed to provide comprehensive, dynamic mathematical models of aortic disease in Turner syndrome by use of cardiovascular magnetic resonance (CMR). Methods A prospective framework of long-term aortic follow-up was used, which comprised diameters of the thoracic aorta prospectively assessed at nine positions by CMR at the three points in time (baseline [n = 102, age 38 ± 11 years], follow-up [after 2.4 ± 0.4 years, n = 80] and end-of-study [after 4.8 ± 0.5 years, n = 78]). Mathematical models were created that cohesively integrated all measurements at all positions, from all visits and for all participants, and using these models cohesive risk factor analyses were conducted based on which predictive modeling was performed on which predictive modelling was performed. Results The cohesive models showed that the variables with effect on aortic diameter were aortic coarctation (P aortic valves (P treatment (P = 0.005). Oestrogen replacement therapy had an effect of borderline significance (P = 0.08). From these data, mathematical models were created that enabled preemption of aortic dilation from CMR derived aortic diameters in scenarios both with and without known risk factors. The fit of the models to the actual data was good. Conclusion The presented cohesive model for prediction of aortic diameter in Turner syndrome could help identifying females with rapid growth of aortic diameter, and may enhance clinical decision-making based on serial CMR. PMID:23742092

  1. ADAMTS-1 in abdominal aortic aneurysm.

    Directory of Open Access Journals (Sweden)

    Emina Vorkapic

    Full Text Available Extracellular matrix degradation is a hallmark of abdominal aortic aneurysm (AAA. Among proteases that are capable of degrading extracellular matrix are a disintegrin and metalloproteases with thrombospondin motifs (ADAMTS. Pathogenesis of these proteases in AAA has not been investigated until date.Human aneurysmal and control aortas were collected and analyzed with RT-PCR measuring the ADAMTS-1, 4,5,6,8,9,10,13,17 and ADAMTSL-1. Expression of a majority of the investigated ADAMTS members on mRNA level was decreased in aneurysm compared to control aorta. ADAMTS-1 was one of the members that was reduced most. Protein analysis using immunohistochemistry and western blot for localization and expression of ADAMTS-1 revealed that ADAMTS-1 was present predominantly in areas of SMCs and macrophages in aneurysmal aorta and higher expressed in AAA compared to control aortas. The role of ADAMTS-1 in AAA disease was further examined using ADAMTS-1 transgenic/apoE-/- mice with the experimental angiotensin II induced aneurysmal model. Transgenic mice overexpressing ADAMTS-1 showed to be similar to ADAMTS-1 wild type mice pertaining collagen, elastin content and aortic diameter.Several of the ADAMTS members, and especially ADAMTS-1, are down regulated at mRNA level in AAA, due to unknown mechanisms, at the same time ADAMTS-1 protein is induced. The cleavage of its substrates, don't seem to be crucial for the pathogenesis of AAA but rather more important in the development of thoracic aortic aneurysm and atherosclerosis as shown in previous studies.

  2. Transcatheter valve-in-valve implantation due to severe aortic regurgitation in a degenerated aortic homograft

    DEFF Research Database (Denmark)

    Olsen, Lene Kjaer; Engstrøm, Thomas; Søndergaard, Lars

    2009-01-01

    Transcatheter aortic valve implantation (TAVI) in severe aortic stenosis has proven to be a feasible and effective treatment modality for inoperable patients. Until now, neither aortic regurgitation nor degenerated bioprostheses has been an indication for TAVI. However, this article reports...... a successful valve-in-valve implantation of a CoreValve aortic valve prosthesis through the right subclavian artery in a case of severe aortic regurgitation within a degenerated aortic homograft. The case exemplifies the possibilities of expanding the indications for TAVI, as well as other vascular access...

  3. Statins for aortic valve stenosis.

    Science.gov (United States)

    Thiago, Luciana; Tsuji, Selma Rumiko; Nyong, Jonathan; Puga, Maria Eduarda Dos Santos; Góis, Aécio Flávio Teixeira de; Macedo, Cristiane Rufino; Valente, Orsine; Atallah, Álvaro Nagib

    2016-01-01

    Aortic valve stenosis is the most common type of valvular heart disease in the USA and Europe. Aortic valve stenosis is considered similar to atherosclerotic disease. Some studies have evaluated statins for aortic valve stenosis. To evaluate the effectiveness and safety of statins in aortic valve stenosis. Search methods: We searched the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, LILACS - IBECS, Web of Science and CINAHL Plus. These databases were searched from their inception to 24 November 2015. We also searched trials in registers for ongoing trials. We used no language restrictions.Selection criteria: Randomized controlled clinical trials (RCTs) comparing statins alone or in association with other systemic drugs to reduce cholesterol levels versus placebo or usual care. Data collection and analysis: Primary outcomes were severity of aortic valve stenosis (evaluated by echocardiographic criteria: mean pressure gradient, valve area and aortic jet velocity), freedom from valve replacement and death from cardiovascular cause. Secondary outcomes were hospitalization for any reason, overall mortality, adverse events and patient quality of life.Two review authors independently selected trials for inclusion, extracted data and assessed the risk of bias. The GRADE methodology was employed to assess the quality of result findings and the GRADE profiler (GRADEPRO) was used to import data from Review Manager 5.3 to create a 'Summary of findings' table. We included four RCTs with 2360 participants comparing statins (1185 participants) with placebo (1175 participants). We found low-quality evidence for our primary outcome of severity of aortic valve stenosis, evaluated by mean pressure gradient (mean difference (MD) -0.54, 95% confidence interval (CI) -1.88 to 0.80; participants = 1935; studies = 2), valve area (MD -0.07, 95% CI -0.28 to 0.14; participants = 127; studies = 2), and aortic jet velocity (MD -0.06, 95% CI -0.26 to 0

  4. Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.

    Science.gov (United States)

    Aubert, Geraldine; Strauss, Kevin A; Lansdorp, Peter M; Rider, Nicholas L

    2017-10-01

    Mutations in the long noncoding RNA RNase component of the mitochondrial RNA processing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia (CHH). The CHH disease phenotype has some overlap with dyskeratosis congenita, a well-known "telomere disorder." RMRP binds the telomerase reverse transcriptase (catalytic subunit) in some cell lines, raising the possibility that RMRP might play a role in telomere biology. We sought to determine whether a telomere phenotype is present in immune cells from patients with CHH and explore mechanisms underlying these observations. We assessed proliferative capacity and telomere length using flow-fluorescence in situ hybridization (in situ hybridization and flow cytometry) of primary lymphocytes from patients with CHH, carrier relatives, and control subjects. The role of telomerase holoenzyme components in gene expression and activity were assessed by using quantitative PCR and the telomere repeat amplification protocol from PBMCs and enriched lymphocyte cultures. Lymphocyte cultures from patients with CHH display growth defects in vitro, which is consistent with an immune deficiency cellular phenotype. Here we show that telomere length and telomerase activity are impaired in primary lymphocyte subsets from patients with CHH. Notably, telomerase activity is affected in a gene dose-dependent manner when comparing heterozygote RMRP carriers with patients with CHH. Telomerase deficiency in patients with CHH is not mediated by abnormal telomerase gene transcript levels relative to those of endogenous genes. These findings suggest that telomere deficiency is implicated in the CHH disease phenotype through an as yet unidentified mechanism. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  5. Improvement in the airway after mandibular distraction osteogenesis surgery in children with temporomandibular joint ankylosis and mandibular hypoplasia.

    Science.gov (United States)

    Zanaty, Ola; El Metainy, Shahira; Abo Alia, Doaa; Medra, Ahmed

    2016-04-01

    Temporomandibular joint (TMJ) ankylosis accompanied by mandibular micrognathia can severely obstruct a patient's upper airway. The obstructive sleep apnea and hypopnea syndrome (OSAHS) resulting from TMJ ankylosis and accompanied by mandibular micrognathia, can severely influence the patient's life. The aim of this study was to determine if there is a difference in Cormack and Lehane score before and after distraction osteogenesis in such patients, and to evaluate the airway changes and the respiratory outcome using polysomnography after mandibular distraction osteogenesis. This observational prospective study was carried out on 30 ASA II patients with micrognathia and TMJ ankylosis undergoing internal distraction osteogenesis. All patients were assessed with polysomnography before surgery and 6 month after surgery. Nasal intubation was done using a fiberoptic bronchoscope, then patients were subjected to the same anesthetic protocol. Direct laryngoscopy was attempted for the Cormack and Lehane grading after induction. The Cormack and Lehane grade was reassessed after facial symmetry was obtained on removal of the distractor. Mouth opening and Cormack and Lehane score improved significantly between the initial presentation for placement of mandibular distraction osteogenesis devices and on removal of the destructor under general anesthesia. Polysomnographic studies conducted after distraction confirmed the correction of airway obstruction in all patients: Improvement in Apnea-Hypopnea Index, mean difference (95% CI), 39.8 (38.8-40.9); the number of apneas per hour, mean difference, (95% CI) 41.1 (42.1-40.1); and oxygen-desaturation-index mean difference (95% CI) 27.6 (28.3-26.8). Mandibular distraction osteogenesis improved laryngeal view. Distraction osteogenesis can be successfully used for the treatment of obstructive sleep apnea in mandibular hypoplasia patients. © 2016 John Wiley & Sons Ltd.

  6. HIV infection and aortic stiffness.

    Science.gov (United States)

    Leite, Luisa Helena Maia; Cohen, Ariel; Boccara, Franck

    People living with human immunodeficiency virus (HIV) infection and receiving antiretroviral therapy now have the same life expectancy as the general population. However, they have a higher risk of atherosclerotic cardiovascular events because of a complex and polyfactorial vasculopathy, combining the effects of antiretroviral therapy, the HIV virus itself, immune activation, chronic inflammation and metabolic disturbances. Whether people living with HIV infection experience increased vascular aging compared with the general population remains controversial. To summarize current knowledge of the association between HIV infection and aortic stiffness as a marker of vascular aging. This review included 18 clinical studies in adult populations, published between 2009 and 2016, and identified on PubMed/MEDLINE or other databases. Search terms were aortic stiffness, arterial stiffness, vascular aging, pulse wave velocity and HIV. All 18 studies were observational, and compared groups infected (HIV+) and not infected (HIV-) with HIV. Ten studies (55%) reported no significant differences in aortic stiffness between HIV+ groups and age-matched HIV- control groups. The main reported determinants of aortic stiffness were age, blood pressure, smoking, metabolic syndrome and HIV-related variables, including CD4/CD8 ratio, current T-CD4 count CD4+ count < 200/mm 3 . We found discordant results regarding whether HIV+ patients had increased aortic stiffness compared with HIV- controls. However, HIV-related conditions were associated with vascular health. This association has been confirmed in recent prospective studies. There is emerging evidence that HIV itself and immune activity affect vascular health and the large arteries. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  7. Preliminary ten year results from a randomised single centre mass screening trial for abdominal aortic aneurysm

    DEFF Research Database (Denmark)

    Lindholt, Jes Sanddal; Juul, Søren; Fasting, H

    2006-01-01

    At present, several regions and countries are considering screening for abdominal aortic aneurysm (AAA). However, The Chichester Aneurysms Screening Trial has reported poor long term benefit of screening for AAA. We therefore supplement previously published data with a preliminary analysis...

  8. Aortic intramural hematoma : assessment of clinical and radiological features in comparison to acute aortic dissection

    International Nuclear Information System (INIS)

    Yoon, Kwon Ha; Hwang, Jae Cheol; Lee, Jin Seong; Kang, Duk Hyun; Song, Jae Kwan; Song, Koun Sik; Lim, Tae Hwan

    1996-01-01

    To compare the clinical and radiological features of aortic intramural hematoma(IMH) to those of acute aortic dissection(AD). We analyzed the clinical and radiological features of 12 patients with aortic IMH and 43 patients with acute AD. In aortic IMH, the diagnoses were made by means of both CT and transesophageal echocardiography(TEE) and included two surgically proven cases. In acute AD, the diagnoses were made by means of CT and TEE and included 21 surgically proven cases. We compared patients ages, etiologies, the extent of the disease, the presence or absence of aortic branch involvement, complications, and outcomes. Aortic IMH tended to develop in older patients (67.8±7.9 vs. 50.4±13.4, P .05). In aortic IMH, there was no involvement of aortic branches, whereas in acute AD, 14(33%) patients showed involvement of one or more aortic branches. Complications of aortic IMH included pericardial effusion (n=2) and pleural effusion (n=4);in acute AD, pericardial effusion (n=7), pleural effusion (n=4), aortic insufficiency (n=8), cerebral infarction (n=3), renal infarction (n=4) and spinal infarction (n=1) were seen. There was one (8%) death due to aortic IMH and ten (23%) deaths due to acute AD (p<.01). Aortic IMH is characterized by its occurrence in older patients with hypertension, a less frequent incidence of complications, and a more favorable outcome than acute AD

  9. One stage surgical treatment of aortic valve disease and aortic coarctation with aortic bypass grafting through the diaphragm and aortic valve replacement.

    Science.gov (United States)

    Yu, Zipu; Wu, Shengjun; Li, Chengchen; Zou, Yu; Ma, Liang

    2015-11-10

    To validate ascending aorta-lower abdominal aorta bypass grafting treatment for patients with descending aortic coarctation and an aortic valve disease. The three patients in whom a descending atypical aortic coarctation was associated with an aortic valve disease were treated with one stage surgical treatment with aortic bypass grafting through the diaphragm and aortic valve replacement in our heart center. Operative technique consisted of performing ascending aorta-lower abdominal aorta bypass grafting through diaphragm muscle and implementing aortic valve replacement. The mean time for extracorporeal circulation and occluding clamp of aorta was recorded. Blood pressure data for pre- and post-operation was measured in the limbs. Computer-enhanced transvenous angiograms of pre- and post-operation were applied for detection of aortic stenosis. The other adverse events were noticed in outpatient service during a follow-up period. The mean extracorporeal circulation time was 54 ± 11 min. The mean time for occluding clamp of aorta was 34 ± 6 min. An arterial pressure gradient was totally corrected after surgical treatment. Post-operation computer-enhanced transvenous angiograms showed the grafts to be open with a fluent flow. The patients had no gastrointestinal tract complications. No adverse event was noticed during a follow-up period in outpatient service. Treatment of ascending aorta-lower abdominal aorta bypass is advisable for patients with descending aortic coarctation and an aortic valve disease.

  10. Transcatheter Aortic Valve Replacement Versus Aortic Valve Bypass: A Comparison of Outcomes and Economics.

    Science.gov (United States)

    Brown, John W; Boyd, Jack H; Patel, Parth M; Baker, Mary L; Syed, Amjad; Ladowski, Joe; Corvera, Joel

    2016-01-01

    Transcatheter aortic valve replacement (TAVR) is currently offered to patients who are high-risk candidates for conventional surgical aortic valve replacement. For the past 37 years, off-pump aortic valve bypass (AVB) has been used in elderly patients at our center for this similarly high-risk group. Although TAVR and AVB were offered to similar patients at our center, comparisons of clinical outcomes and hospital economics for each strategy were not reported. We reviewed the clinical and financial records of 53 consecutive AVB procedures performed since 2008 with the records of 51 consecutive TAVR procedures performed since 2012. Data included demographics, hemodynamics, The Society of Thoracic Surgeons (STS) risk score, extent of coronary disease, and ventricular function. Follow-up was 100% in both groups. Hospital financial information for both cohorts was obtained. Mean risk score for the TAVR group was 10.1% versus 17.6% for AVB group (p < 0.001). Kaplan-Meier hospital rates of 3- and 6-month survival and of 1-year survival were 88%, 86%, 81%, and 61% and 89%, 83%, 83%, and 70% for the TAVR and AVB groups, respectively (p = 0.781). Two patients who had undergone TAVR had a procedure-related stroke. The one stroke in an AVB recipient was late and not procedure related. At discharge, mild and moderate perivalvular and central aortic insufficiency were present in 31% and 16% of TAVR recipients, respectively; no AVB valve leaked. Transvalvular gradients were reduced to less than 10 mm Hg in both groups. The average hospital length of stay for the AVB-treated patients was 13 days, and it was 9 days for the TAVR-treated patients. Median hospital charges were $253,000 for TAVR and $158,000 for AVB. Mean payment to the hospital was $65,000 (TAVR) versus $64,000 (AVB), and the mean positive contribution margin (profit) to the hospital was $14,000 for TAVR versus $29,000 for AVB. TAVR and AVB relieve aortic stenosis and have similar and acceptable procedural mortality

  11. Aortic Dissection and Renal Failure in a Patient with Severe Hypothyroidism

    OpenAIRE

    Brooke, Valerie; Goswami, Sangeeta; Mohanty, Arpan; Kasi, Pashtoon Murtaza

    2012-01-01

    Acute aortic dissection (AAD) is a life-threatening condition associated with high morbidity and mortality. The most important recognized acquired cause that leads to dissection is chronic arterial hypertension. With respect to the anuria and renal failure, aortic dissection is not something that is always considered and is still not a very common presentation unless both renal arteries come off the false lumen of the dissection. However, when present, preoperative renal failure in patients w...

  12. Abdominal aortic aneurysms.

    Science.gov (United States)

    Lindholt, Jes Sanddal

    2010-12-01

    Although the number of elective operations for abdominal aortic aneurysms (AAA) is increasing, the sex- and age-standardised mortality rate of AAAs continues to rise, especially among men aged 65 years or more. The lethality of ruptured AAA continues to be 80-95%, compared with 5-7% by elective surgery of symptomfree AAA. In order to fulfil all WHO, European, and Danish criteria for screening, a randomised hospitalbased screening trial of 12,639 65-73 year old men in Viborg County (Denmark) was initiated in 1994. It seemed that US screening is a valid, suitable and acceptable method of screening. The acceptance rate was 77%, and 95% accept control scans. Furthermore, persons at the highest risk of having an AAA attend screening more frequently. We found that 97% of the interval cases developed from aortas that initially measured 2.5-2.9 cm - i.e. approx. only 5% attenders need re-screening at 5-year intervals. Two large RCTs have given clear indications of operation. Survivors of surgery enjoy the same quality of life as the background population, and only 2-5% of patients refuse an offer of surgery. Early detection seems relevant since the cardiovascular mortality is more than 4 times higher in AAA patients without previous hospital discharge diagnoses due to cardiovascular disease than among similar men without AAA. The absolute risk difference after 5 years was 16%. So, they will benefit from general cardiovascular preventive action as smoking cessation, statins and low-dose aspirin, which could inhibit further AAA progression. All 4 existing RCTs point in the same direction, viz. in favour of screening of men aged 65 and above. We found that screening significantly reduced AAA-related mortality by 67% within the first five years (NNT = 352). Restriction of screening to men with previous cardiovascular or pulmonary hospital discharge diagnoses would request only 27% of the relevant male population study to be invited, but would only have prevented 46.7% of the

  13. Complete Resolution of a Large Bicuspid Aortic Valve Thrombus with Anticoagulation in Primary Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Rayan Jo Rachwan

    2017-09-01

    Full Text Available Native aortic valve thrombosis in primary antiphospholipid syndrome (APLS is a rare entity. We describe a 38-year-old man who presented with neurological symptoms and a cardiac murmur. Transthoracic echocardiography detected a large bicuspid aortic valve thrombus. Laboratory evaluation showed the presence of antiphospholipid antibodies. Anticoagulation was started, and serial echocardiographic studies showed complete resolution of the aortic valve vegetation after 4 months. The patient improved clinically and had no residual symptoms. This report and review of the literature suggests that vegetations in APLS can be treated successfully with conservative treatment, regardless of their size.

  14. Contained rupture of a mycotic infrarenal aortic aneurysm infected with Campylobacter fetus

    Science.gov (United States)

    Dimitrief, Maria; Déglise, Sébastien; Pezzetta, Edgardo

    2016-01-01

    Mycotic abdominal aortic aneurysms (MAAAs) are rare entities accounting for 0.65–2% of aortic aneurysms. Campylobacter fetus has a tropism for vascular tissue and is a rare cause of mycotic aneurysm. We present a 73-year-old male patient with contained rupture of a MAAA caused by C. fetus, successfully treated with endovascular aortic repair (EVAR) and antibiotics, which is not previously described for this aetiology. Although open surgery is the gold standard, EVAR is nowadays feasible and potentially represents a durable option, especially in frail patients. PMID:27852656

  15. Transesophageal echocardiographic evaluation of an intraoperative retrograde acute aortic dissection: case report

    Directory of Open Access Journals (Sweden)

    Reiter Charles G

    2006-04-01

    Full Text Available Abstract Background We report an intraoperative retrograde dissection of the aorta and its subsequent evaluation by transesophageal echocardiography (TEE. Case presentation A 78 year old woman with an ascending aortic aneurysm without dissection and coronary artery disease was brought to the operating room for aneurysm repair and coronary artery bypass grafting. After initiation of cardiopulmonary bypass through a femoral artery cannula, aortic dissection was noted and subsequently imaged by TEE. Conclusion Retrograde aortic dissection through the femoral artery is life-threatening. Intraoperative TEE can be used to diagnose this uncommon event, and should be considered after initiation of bypass.

  16. Endovascular management of an acquired aortobronchial fistula following aortic bypass for coarctation.

    LENUS (Irish Health Repository)

    O'Sullivan, Katie E

    2013-09-20

    Aortobronchial fistula (ABF) in the setting of aortic coarctation repair is very rare but uniformly fatal if untreated. Endovascular stenting of the descending aorta is now the first-choice approach for ABF presenting with haemoptysis and offers a less-invasive technique with improved outcomes, compared with open repair. We report a case of late ABF occurring following bypass for aortic coarctation. Management focused on two key manoeuvres: use of a covered endovascular stent to occlude the aortic bypass thus controlling the fistula and dilatation and stenting of native coarctation.

  17. Ebstein′s anomaly with severe aortic stenosis and syncope: Implications in management

    Directory of Open Access Journals (Sweden)

    Vijayakumar Subban

    2013-01-01

    Full Text Available Ebstein′s anomaly is a rare congenital heart disease involving the right side of the heart with typical malformations of the tricuspid valve and the right ventricle. Associated left heart anomalies, particularly aortic valve disease, are extremely rare. We report here an unusual case of Ebstein′s anomaly of the tricuspid valve and severe aortic stenosis who presented to us with recurrent syncopal episodes. The patient needed to undergo electrophysiological evaluation before aortic valve replacement to rule out arrhythmic causes of syncope.

  18. Endovascular treatment of aortic pathologies - State of the art. Part 2 - Pathologies of thoracic aorta and other applications

    International Nuclear Information System (INIS)

    Uribe, Carlos E; Calderon, Luis L; Gomez, German S; Castro, Pablo; Hurtado, Edgar F; Estrada, Gilberto

    2007-01-01

    Endovascular treatment of aortic pathologies is actually an alternative to open surgery. It has proven to be safe, showing similar or better results to those achieved by surgery. In this article, treatment of aortic pathologies by means of endoprosthesis is presented, as well as its indications, contraindications and future treatment with this kind of devices

  19. Indexing aortic valve area by body surface area increases the prevalence of severe aortic stenosis

    DEFF Research Database (Denmark)

    Jander, Nikolaus; Gohlke-Bärwolf, Christa; Bahlmann, Edda

    2014-01-01

    To account for differences in body size in patients with aortic stenosis, aortic valve area (AVA) is divided by body surface area (BSA) to calculate indexed AVA (AVAindex). Cut-off values for severe stenosis are......To account for differences in body size in patients with aortic stenosis, aortic valve area (AVA) is divided by body surface area (BSA) to calculate indexed AVA (AVAindex). Cut-off values for severe stenosis are...

  20. High Risk Aortic Valve Replacement - The Challenges of Multiple Treatment Strategies with an Evolving Technology.

    Science.gov (United States)

    Booth, K; Beattie, R; McBride, M; Manoharan, G; Spence, M; Jones, J M

    2016-01-01

    Deciding on the optimal treatment strategy for high risk aortic valve replacement is challenging. Transcatheter Aortic Valve implantation (TAVI) has been available in our centre as an alternative treatment modality for patients since 2008. We present our early experience of TAVI and SAVR (surgical Aortic Valve Replacement) in high risk patients who required SAVR because TAVI could not be performed. The database for Surgical aortic valve and Transcatheter aortic valve replacement referrals was interrogated to identify relevant patients. Survival to hospital discharge was 95.5% in the forty five patients who had SAVR when TAVI was deemed technically unsuitable. One year survival was 86%. Defining who is appropriate for TAVI or high risk SAVR is challenging and multidisciplinary team discussion has never been more prudent in this field of evolving technology with ever decreasing risks of surgery. The introduction of TAVI at our institution has seen a rise in our surgical caseload by approximately by 25%. Overall, the option of aortic valve intervention is being offered to more patients in general which is a substantial benefit in the treatment of aortic valve disease.

  1. Results of simultaneous intervention in patients with concomitant coronary artery disease and aortic stenosis

    Directory of Open Access Journals (Sweden)

    Д. Д. Зубарев

    2016-11-01

    Full Text Available Aim. The study was aimed at comparing the immediate and long-term results of aortic valve replacement in combination with various techniques of intervention for myocardial revascularization, namely: coronary artery bypass grafting (CABG and percutaneous transluminal coronary angioplasty (PTCA.Methods. This randomized prospective controlled study involved 120 cardiac patients over 18 years old with combined aortic valve stenosis and arterial sclerotic disease of coronary arteries. The inclusion criteria were a combination of aortic valve stenosis and a hemodynamically significant lesion of the coronary bed. A comparative analysis of the results obtained in the nearest postoperative period and during 1-year follow-up is presented. Results. Hybrid intervention (aortic valve replacement + percutaneous transluminal coronary angioplasty produces the results which are comparable with those of the control (aortic valve replacement + CABG, with a significantly greater decrease in the peak gradient on the aortic valve. During long-term follow-up, the group of patients who underwent hybrid intervention demonstrated a much higher myocardial infarction rate (12.5 versus 2.5 %, however, the severity of infarctions was significantly lower.Conclusion. PTCA, as compared to CABG, with concomitant coronary artery disease significantly improves the indicators of aortic valve insufficiency and the survival after repeated myocardial infarction, with the matching frequency of acute cerebral circulation abnormalities and the lethality rate in the long-term period.Received 29 August 2016. Accepted 5 October 2016.Funding: The study had no sponsorship. Conflict of interest: The authors declare no conflict of interest.

  2. The hybrid stent-graft technique: a solution to complex aortic problems and lessons learned.

    Science.gov (United States)

    Kokotsakis, John; Misthos, Panagiotis; Athanasiou, Thanos; Sakellaridis, Timotheos; Neofotistos, Kostas; Skouteli, Elian; Lioulias, Achilleas

    2008-01-01

    The frozen elephant trunk technique has been recently presented in the literature and has been considered as a novel surgical option for single-stage repair of complex aortic pathology such as combined arch and descending thoracic aortic aneurysms. The first patient, a 74-year-old male, was admitted severely symptomatic (interscapular pain), with aortic distal arch and proximal descending thoracic aortic aneurysm with a diameter of 6 cm. The second patient, a 72-year-old male, underwent descending aortic aneurysm stent grafting one year ago and was admitted gravely symptomatic (interscapular pain), with aortic arch aneurysm (diameter of 5.7 cm) and type I endoleak at the proximal end of the stent. The first patient developed paraplegia after the operation and died three months after the operation due to pneumonia while he was on a rehabilitation program. The second patient's recovery was uneventful and was discharged on postoperative day nine. This report summarizes our preliminary experience with this technique emphasizing two points: first, it offers the opportunity to manage efficiently complex aortic problems, and second, there is a potential risk of serious complications related to the limited stent sizes available of the device to match the patient's anatomical characteristics and pathology.

  3. Open repair of adult aortic coarctation mostly by a resection and graft replacement technique.

    Science.gov (United States)

    Charlton-Ouw, Kristofer M; Codreanu, Maria E; Leake, Samuel S; Sandhu, Harleen K; Calderon, Daniel; Azizzadeh, Ali; Estrera, Anthony L; Safi, Hazim J

    2015-01-01

    We report on our experience with treatment of adults requiring de novo or redo open aortic coarctation repair mostly by a resection and interposition graft technique. We retrospectively reviewed all patients older than 16 years requiring open repair of aortic coarctation. Indications for repair, operative details, and outcomes were analyzed. Between 1996 and 2011, we treated 29 adult aortic coarctation patients with open repair. The mean age was 42 years (range, 17-69 years), and there were 15 men. Nine patients had previous repair with recurrence; the remaining 20 had native coarctation. Thoracic aortic aneurysms were present in 22 patients (76%), ranging in size from 3.0 to 9.6 cm (mean, 4.8 cm). Four patients had intercostal artery aneurysms (range, 1.0-2.5 cm), four had left subclavian artery aneurysms, and four had ascending/arch aneurysms. The most common repair was resection of aortic coarctation with interposition graft replacement (93%). Two patients without aneurysm had bypasses from the proximal descending thoracic aorta to the infrarenal aorta without aortic resection. There was no in-hospital mortality, stroke, or paraplegia. Long-term survival was 89% during a median follow-up of 81 months (interquartile range, 47-118 months), with no patient requiring reoperation on the repaired segment. Open repair of native and recurrent adult aortic coarctation has acceptable morbidity and low mortality. Especially in patients with concomitant aneurysm, resection with interposition graft replacement provides a safe and durable repair option. Published by Elsevier Inc.

  4. Aortic valvuloplasty of calcific aortic stenosis with monofoil and trefoil balloon catheters: practical considerations

    NARCIS (Netherlands)

    S. Plante (Sylvain); M.J.B.M. van den Brand (Marcel); L.C.P. van Veen; C. di Mario (Carlo); C.E. Essed; K.J. Beatt (Kevin); P.W.J.C. Serruys (Patrick)

    1990-01-01

    textabstractIn order to evaluate the relation between balloon design (monofoil, trefoil) and valvular configuration, experimental aortic valvuloplasty was performed in four post-mortem hearts with calcific aortic stenosis of various morphology. The degree of obstruction of the aortic orifice was

  5. Transcatheter valve-in-valve implantation due to severe aortic regurgitation in a degenerated aortic homograft

    DEFF Research Database (Denmark)

    Olsen, Lene Kjaer; Engstrøm, Thomas; Søndergaard, Lars

    2009-01-01

    a successful valve-in-valve implantation of a CoreValve aortic valve prosthesis through the right subclavian artery in a case of severe aortic regurgitation within a degenerated aortic homograft. The case exemplifies the possibilities of expanding the indications for TAVI, as well as other vascular access...

  6. Cervical aortic arch and a new type of double aortic arch. Report of a case.

    Science.gov (United States)

    Cornali, M; Reginato, E; Azzolina, G

    1976-09-01

    A case of cervical aortic arch is reported. To the best of our knowledge, it is the first to be associated with a serious intracardiac anomaly. In addition, it is part of a new type of double aortic arch, caused by failure of reabsorption of both dorsal aortic roots and persistence of the fourth right and second (or third) left branchial arches.

  7. Ascending aortic diameters in congenital aortic stenosis: cardiac magnetic resonance versus transthoracic echocardiography

    NARCIS (Netherlands)

    Linde, D. van der; Rossi, A. de; Yap, S.C.; McGhie, J.S.; Bosch, A.E. van den; Kirschbaum, S.W.; Russo, B.; Dijk, A.P.J. van; Moelker, A.; Krestin, G.P.; Geuns, R.J. van; Roos-Hesselink, J.W.

    2013-01-01

    OBJECTIVES/BACKGROUND: Congenital aortic stenosis (AS) is the most common obstructive left heart lesion in the young adult population and often complicated by aortic dilatation. Our objective was to evaluate accuracy of aortic imaging with transthoracic echocardiography (TTE) compared with cardiac

  8. Medical image of the week: acute aortic dissection

    Directory of Open Access Journals (Sweden)

    Desai H

    2015-06-01

    Full Text Available No abstract available. Article truncated after 150 words. An 85-year-old gentleman with the past medical history significant for hypertension, smoking, and coronary artery disease presented to the emergency department (ED with complains of sudden onset of chest pain. His pain was described as squeezing and radiating to the back, associated with nausea and vomiting. His chest pain improved with nitroglycerin in ED. Chest x-ray showed a tortuous aortic knob and widened mediastinum. He underwent a CT angiogram, which showed, Stanford Type B aortic dissection, from distal aortic arch to renal arteries (Figure 1. He was managed in the hospital conservatively with tight blood pressure control given the type of dissection and no surgical intervention was done. He was uneventfully discharged with follow up arranged with vascular surgery. Aortic dissection is classified by Stanford Criteria as Type A which involves the ascending aorta and arch and Type B when it involves the descending aorta. Type A dissection is a ...

  9. [Surgical treatment of atypical aortic coarctation -- long-term results].

    Science.gov (United States)

    Dzsinich, Csaba; Entz, László; Berek, Péter; Vallus, Gábor; Barta, László; Nagy, Gabriella; Nyiri, Gabriella

    2016-06-26

    Aortic coarctation is a frequent congenital cardiovascular disorder representing 5-8% of all cases. It is typically localized in the isthmic region. However, in about 1% of cases coarctation may develop in atypical sites of the aorta and it is frequently complicated with severe hypertension. The aim of the authors was to present diagnostic and surgical methods used in 27 patients with atypical aortic coarctation during the last 35 years with special interest on long-term results. There was a great advance in diagnostic and surgical treatment methods during the time period analyzed in this study. Nowadays morphologic diagnosis is most commonly obtained using computed tomography angiography and magnetic resonance angiography. Some cases were treated with endovascular techniques, but the authors used also a wide variety of surgical approaches in these patients with atypical aortic coarctation. No patient died after surgery and hypertension was reduced in all patients, too. Reintervention was necessary in patients operated in childhood due to change of body measures. Atypical aortic coarctation can be treated surgically with good early and late outcomes. Somatic growth of children may indicate surgical revision.

  10. The intraventricular filling vortex under heightened aortic blood pressure

    Science.gov (United States)

    Nelsen, Nicholas; Gaddam, Manikantam; Santhanakrishnan, Arvind

    2017-11-01

    Hypertension, or high aortic blood pressure, can induce structural changes in the left ventricle (LV) such as concentric hypertrophy. Previous studies have identified that the intraventricular filling vortex serves as an effective means of blood transport during diastolic filling. However, a fundamental understanding of how hypertension affects this vortex is unavailable. This knowledge can be useful for improving diagnosis and treatment of related heart disease conditions, including hypertensive heart failure. In this experimental study, we hypothesized that the circulation of the filling vortex would diminish with increased aortic pressure. Using a LV physical model within a left heart simulator, we performed hemodynamic measurements to acquire pressure and volumetric inflow profiles and 2D particle image velocimetry to visualize the intraventricular flow fields. Peak aortic pressures of 120 mm Hg, 140 mm Hg, and 160 mm Hg were each tested at heart rates of 70, 100, and 110 beats per minute, under: 1) reduced ejection fraction (EF), and 2) constant EF. Our results indicate that peak vortex circulation is reduced under elevated aortic pressures. Hemodynamics and characteristics of the intraventricular filling vortex in all examined experimental cases will be presented.

  11. Prevalence of dental anomalies and enamel hypoplasia in primary dentition among preschool children of West Godavari District, Andhra Pradesh -A cross - sectional study

    Directory of Open Access Journals (Sweden)

    Suzan Sahana

    2013-01-01

    Full Text Available Background: It is axiomatic that Pediatric dental anomalies and enamel hypoplasia (E.H are routinely encountered in primary dentition and early detection and prudent management of the condition facilitates normal occlusal development. Objectives: To determine the prevalence of various dental anomalies and enamel hypoplasia in preschool children between two to six years of age. Materials & Method: A total of 1898 children, between two to six years were randomly selected and screened for dental anomalies and enamel hypoplasia The chi square test was used to analyze the data statistically. Results: The overall prevalence rate of dental anomalies and enamel hypoplasia in this study was 0.63% and 8.95% respectively. Double teeth were the most frequently reported dental anomaly while supernumerary teeth were least reported. None of them reported with hypodontia.

  12. A prospective, randomised trial of transapical transcatheter aortic valve implantation vs. surgical aortic valve replacement in operable elderly patients with aortic stenosis

    DEFF Research Database (Denmark)

    Nielsen, Hans Henrik Møller; Klaaborg, Kaj E; Nissen, Henrik

    2012-01-01

    In a prospective randomised trial we aimed to compare transapical transcatheter aortic valve implantation (a-TAVI) with surgical aortic valve replacement (SAVR) in operable elderly patients.......In a prospective randomised trial we aimed to compare transapical transcatheter aortic valve implantation (a-TAVI) with surgical aortic valve replacement (SAVR) in operable elderly patients....

  13. Aortic valve insufficiency in the teenager and young adult: the role of prosthetic valve replacement.

    Science.gov (United States)

    Bradley, Scott M

    2013-10-01

    The contents of this article were presented in the session "Aortic insufficiency in the teenager" at the congenital parallel symposium of the 2013 Society of Thoracic Surgeons (STS) annual meeting. The accompanying articles detail the approaches of aortic valve repair and the Ross procedure.(1,2) The current article focuses on prosthetic valve replacement. For many young patients requiring aortic valve surgery, either aortic valve repair or a Ross procedure provides a good option. The advantages include avoidance of anticoagulation and potential for growth. In other patients, a prosthetic valve is an appropriate alternative. This article discusses the current state of knowledge regarding mechanical and bioprosthetic valve prostheses and their specific advantages relative to valve repair or a Ross procedure. In current practice, young patients requiring aortic valve surgery frequently undergo valve replacement with a prosthetic valve. In STS adult cardiac database, among patients ≤30 years of age undergoing aortic valve surgery, 34% had placement of a mechanical valve, 51% had placement of a bioprosthetic valve, 9% had aortic valve repair, and 2% had a Ross procedure. In the STS congenital database, among patients 12 to 30 years of age undergoing aortic valve surgery, 21% had placement of a mechanical valve, 18% had placement of a bioprosthetic valve, 30% had aortic valve repair, and 24% had a Ross procedure. In the future, the balance among these options may be altered by design improvements in prosthetic valves, alternatives to warfarin, the development of new patch materials for valve repair, and techniques to avoid Ross autograft failure.

  14. Initial Surgical Experience with Aortic Valve Repair: Clinical and Echocardiographic Results

    Science.gov (United States)

    da Costa, Francisco Diniz Affonso; Colatusso, Daniele de Fátima Fornazari; da Costa, Ana Claudia Brenner Affonso; Balbi Filho, Eduardo Mendel; Cavicchioli, Vinicius Nesi; Lopes, Sergio Augusto Veiga; Ferreira, Andrea Dumsch de Aragon; Collatusso, Claudinei

    2016-01-01

    Introduction Due to late complications associated with the use of conventional prosthetic heart valves, several centers have advocated aortic valve repair and/or valve sparing aortic root replacement for patients with aortic valve insufficiency, in order to enhance late survival and minimize adverse postoperative events. Methods From March/2012 thru March 2015, 37 patients consecutively underwent conservative operations of the aortic valve and/or aortic root. Mean age was 48±16 years and 81% were males. The aortic valve was bicuspid in 54% and tricuspid in the remaining. All were operated with the aid of intraoperative transesophageal echocardiography. Surgical techniques consisted of replacing the aortic root with a Dacron graft whenever it was dilated or aneurysmatic, using either the remodeling or the reimplantation technique, besides correcting leaflet prolapse when present. Patients were sequentially evaluated with clinical and echocardiographic studies and mean follow-up time was 16±5 months. Results Thirty-day mortality was 2.7%. In addition there were two late deaths, with late survival being 85% (CI 95% - 68%-95%) at two years. Two patients were reoperated due to primary structural valve failure. Freedom from reoperation or from primary structural valve failure was 90% (CI 95% - 66%-97%) and 91% (CI 95% - 69%-97%) at 2 years, respectively. During clinical follow-up up to 3 years, there were no cases of thromboembolism, hemorrhage or endocarditis. Conclusions Although this represents an initial series, these data demonstrates that aortic valve repair and/or valve sparing aortic root surgery can be performed with satisfactory immediate and short-term results. PMID:27556321

  15. Contemporary Management of Type B Aortic Dissection in the Endovascular Era.

    Science.gov (United States)

    Bannazadeh, Mohsen; Tadros, Rami O; McKinsey, James; Chander, Rajiv; Marin, Michael L; Faries, Peter L

    2016-04-01

    Aortic dissection (AD) is one of the most common catastrophic pathologies affecting the aorta. Anatomic classification is based on the origin of entry tear and its extension. Type A dissections originate in the ascending aorta, whereas the entry tear in Type B dissections starts distal to the left subclavian artery. The patients with aortic dissection who manifest complications such as rupture, malperfusion, aneurysmal degeneration, and intractable pain are classified as complicated AD. Risk factors for developing aortic dissection include age, male gender, and aortic wall structural abnormalities. The most common presenting symptom of acute aortic dissection is pain. Malperfusion occurs as a result of end-organ ischemia due to involvement of aortic branches from the dissecting process. This can happen in various locations causing mesenteric ischemia (mesenteric vessels), stroke (aortic arch vessels), renal failure (renal arteries), spinal ischemia, and limb ischemia (iliac or subclavian arteries). Aneurysmal degeneration is the most common complication of patients with chronic Type B dissection who are managed with medical therapy. Management of Type B aortic dissection (TBAD) remains controversial. Many groups recommend conservative therapy for newly diagnosed TBAD and reserve surgical management for patients who develop complications such as rupture, malperfusion, aneurysmal dilatation, and refractory pain. The mainstay of medical therapy includes antihypertensive medication to reduced ΔP/ ΔT by lowering blood pressure and heart rate. With the continued success of thoracic endovascular aortic repair (TEVAR), this procedure has been extended to treat TBAD in selected patients. The outcomes of TEVAR are promising, with early mortality rates from 10% to 20%. With promising results from these series, some groups recommend early TEVAR in uncomplicated TBAD to prevent future adverse events. The goals of endovascular treatment of TBAD are to cover the entry tear

  16. Repair of recurrent pseudoaneurysm of the mitral-aortic intervalvular fibrosa: Role of transesophageal echocardiography

    Directory of Open Access Journals (Sweden)

    Shreedhar S Joshi

    2014-01-01

    Full Text Available Pseudoaneurysm of mitral-aortic intervalvular fibrosa (P-MAIVF is a rare cardiac surgical condition. P-MAIVF commonly occurs as a complication of aortic and mitral valve replacement surgeries. The surgical trauma during replacement of the valves weakens the avascular mitral and aortic intervalvular area. We present a case of P-MAIVF recurrence 5 years after a primary repair. Congestive cardiac failure was the presenting feature with mitral and aortic regurgitation. In view of the recurrence, the surgical team planned for a double valve replacement. The sewing rings of the two prosthetic-valves were interposed to close the mouth of the pseudoaneurysm and to provide mechanical reinforcement of the MAIVF. Intra-operative transesophageal echocardiography (TEE helped in delineating the anatomy, extent of the lesion, rupture of one of the pseudoaneurysm into left atrium and severity of the valvular regurgitation. Post-procedure TEE confirmed complete obliteration of the pseudoaneurysm and prosthetic valve function.

  17. Rupture of an Abdominal Aortic Aneurysm in a Young Man with Marfan Syndrome.

    Science.gov (United States)

    Pedersen, Maria Weinkouff; Huynh, Khiem Dinh; Baandrup, Ulrik Thorngren; Nielsen, Dorte Guldbrand; Andersen, Niels Holmark

    2018-04-01

    Abdominal aortic aneurysms (AAAs) are very rare in Marfan syndrome. We present a case with a young nonsmoking and normotensive male with Marfan syndrome, who developed an infrarenal AAA that presented with rupture to the retroperitoneal cavity causing life-threatening bleeding shock. The patient had acute aortic surgery and survived. Five months before this incident, the patient had uneventful elective aortic root replacement (ad modum David) due to an enlarged aortic root. At that time, his abdominal aorta was assessed with a routine ultrasound scan that showed a normal-sized abdominal aorta. This documents that the aneurysm had evolved very rapidly despite young age and absence of risk factors. Copyright © 2018 Elsevier Inc. All rights reserved.

  18. Thoracic Endovascular Aortic Repair in a Patient with Mobile Aortic Thrombosis

    Directory of Open Access Journals (Sweden)

    Graham M. Lohrmann

    2014-01-01

    Full Text Available A 58-year-old female presented with acute arterial insufficiency to her left leg. Following cardiovascular evaluation using multimodality imaging, it was discovered that she had mobile thoracic thrombi overlying a normal descending thoracic aorta which had also caused a splenic infarction. This patient was treated with unfractionated heparin for three days and underwent subsequent thoracic endovascular aortic repair (TEVAR uneventfully with no subsequent complications at one-year followup. This case highlights the diagnostic and therapeutic challenges in treating patients with this uncommon challenging clinical scenario.

  19. Clinical distinction between nasal optic disc hypoplasia (NOH and glaucoma with NOH-like temporal visual field defects

    Directory of Open Access Journals (Sweden)

    Hiroshi Ohguro

    2010-06-01

    Full Text Available Hiroshi Ohguro, Ikuyo Ohguro, Midori Tsuruta, Maki Katai, Sachie TanakaDepartment of Ophthalmology, Sapporo Medical University School of Medicine, JapanPurpose: To report on the clinically important differences between nasal optic hypoplasia (NOH and glaucoma with NOH-like temporal visual field defect (VFD.Method: Five NOH (four bilateral and one unilateral patients, three unilateral NOH patients with glaucoma, and two glaucoma patients with NOH-like temporal VFD were clinically characterized. Superior segmental optic nerve hypoplasia was also associated with glaucoma in one eye of a bilateral NOH case and the NOH eye of a unilateral NOH patient. Ocular manifestations including refractive errors, size, and appearances of the optic discs, retinal nerve fiber thickness (NFLT ascertained by optical coherence tomography (OCT, and VFD were examined.Results: Ophthalmic examinations revealing NOH showed high myopia at more than -5.0D, a small disc with nasal double-ring appearance, significantly decreased NFLT by OCT, and retinal nerve fiber layer defect in the corresponding nasal sector. Stationary temporal VFD varied from a slight depression of the peripheral isopters to wide sector defects. In contrast, two glaucoma patients with NOH-like temporal VFD showed several different clinical features, including mild myopia less than -5D, a normal size with glaucomatous disc cupping; a slight decrease in nasal NFLT and progression of temporal and other glaucomatous VFD.Conclusion: Careful evaluation of optic disc appearance and measurement of NFLT using OCT may help to distinguish between NOH and glaucoma with NOH-like temporal VFD.Keywords: nasal optic disc hypoplasia, glaucoma, temporal visual field defects, optical coherence tomography, superior segmental optic nerve hypoplasia

  20. Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome

    Directory of Open Access Journals (Sweden)

    Ji Won Koh

    2013-06-01

    Full Text Available X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1, and can occur as part of a contiguous gene deletion syndrome in association with glycerol kinase (GK deficiency, Duchenne muscular dystrophy and X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL1 gene deficiency. It is usually associated with hypogonadotropic hypogonadism, although in rare cases, it has been reported to occur in normal puberty or even central precocious puberty. This study addresses a case in which central precocious puberty developed in a boy with X-linked adrenal hypoplasia congenita who had complete deletion of the genes DAX-1, GK and IL1RAPL1 (Xp21 contiguous gene deletion syndrome. Initially he was admitted for the management of adrenal crisis at the age of 2 months, and managed with hydrocortisone and florinef. At 45 months of age, his each testicular volumes of 4 mL and a penile length of 5 cm were noted, with pubic hair of Tanner stage 2. His bone age was advanced and a gonadotropin-releasing hormone (GnRH stimulation test showed a luteinizing hormone peak of 8.26 IU/L, confirming central precocious puberty. He was then treated with a GnRH agonist, as well as steroid replacement therapy. In Korea, this is the first case of central precocious puberty developed in a male patient with X-linked adrenal hypoplasia congenita.

  1. CT volumetry of lumbar vertebral bodies in patients with hypoplasia L5 and bilateral spondylolysis and in normal controls

    International Nuclear Information System (INIS)

    Wilms, Guido E.; Demaerel, Philippe; Keyzer, Frederik de; Willems, Endry

    2012-01-01

    To examine the feasibility and results of calculating the volume of lumbar vertebral bodies in normal patients and patients with suspected hypoplasia of L5. Lumbar multi-detector CT was performed in 38 patients with bilateral spondylolysis and hypoplasia of L5 and in 38 normal patients. Lumbar vertebral body volume of L3, L4 and L5 was measured by CT volumetry with a semi-automated program, created with MeVisLab. In the control group, the average vertebral body volume (in cubic centimeters) of L3 was 35.93 (±7.33), 36.34 (±7.13) for L4 and 34.63 (±6.88) for L5. In patients with suspected hypoplasia L5 the average body volume (in cubic centimeters) of L3 was 36.85 (±7.37), 36.90 (±6.99) for L4 and 33.14 (±6.57) for L5. The difference in mean vertebral body volume for L3, L4 and L5 between both groups was statistically not significant. However, there was a statistically significant difference of the ratio L5/L4 (P < 0.001) between both groups: the mean ratio L5/L4 in the control group was 95.3 ± 3.9%, the ratio for the hypoplastic L5 group was 89.9 ± 6.3%. There was no significant difference in the vertebral body volume for L3, L4 and L5 between both groups due to inter-patient variability. However, the relation between the body volume of L5 and L4 is significantly different between both groups. The volume of the vertebral body of L5 proved to be on average 10.2% smaller than the volume of L4 in the group with hypoplasia L5 versus 4.7% in the control group. (orig.)

  2. CT volumetry of lumbar vertebral bodies in patients with hypoplasia L5 and bilateral spondylolysis and in normal controls

    Energy Technology Data Exchange (ETDEWEB)

    Wilms, Guido E.; Demaerel, Philippe; Keyzer, Frederik de [UZ Leuven, Campus Gasthuisberg, Department of Radiology, Leuven (Belgium); Willems, Endry [ZOL, Department of Radiology, Genk (Belgium)

    2012-08-15

    To examine the feasibility and results of calculating the volume of lumbar vertebral bodies in normal patients and patients with suspected hypoplasia of L5. Lumbar multi-detector CT was performed in 38 patients with bilateral spondylolysis and hypoplasia of L5 and in 38 normal patients. Lumbar vertebral body volume of L3, L4 and L5 was measured by CT volumetry with a semi-automated program, created with MeVisLab. In the control group, the average vertebral body volume (in cubic centimeters) of L3 was 35.93 ({+-}7.33), 36.34 ({+-}7.13) for L4 and 34.63 ({+-}6.88) for L5. In patients with suspected hypoplasia L5 the average body volume (in cubic centimeters) of L3 was 36.85 ({+-}7.37), 36.90 ({+-}6.99) for L4 and 33.14 ({+-}6.57) for L5. The difference in mean vertebral body volume for L3, L4 and L5 between both groups was statistically not significant. However, there was a statistically significant difference of the ratio L5/L4 (P < 0.001) between both groups: the mean ratio L5/L4 in the control group was 95.3 {+-} 3.9%, the ratio for the hypoplastic L5 group was 89.9 {+-} 6.3%. There was no significant difference in the vertebral body volume for L3, L4 and L5 between both groups due to inter-patient variability. However, the relation between the body volume of L5 and L4 is significantly different between both groups. The volume of the vertebral body of L5 proved to be on average 10.2% smaller than the volume of L4 in the group with hypoplasia L5 versus 4.7% in the control group. (orig.)

  3. Surgery for acute Type I aortic dissection without resection of supra-aortic entry sites leads to unfavourable aortic remodelling.

    Science.gov (United States)

    Heo, Woon; Song, Suk-Won; Lee, Kwang-Hun; Lee, Shin-Young; Kim, Tae-Hoon; Baek, Min-Young; Yoo, Kyung-Jong

    2018-01-29

    This study aimed to evaluate the impact of remnant re-entries in arch branches on postoperative change in the aortic arch and descending aortic diameters and the rate of major adverse aortic events. Between January 2010 and December 2016, 249 patients underwent surgery for acute Type I aortic dissection. Patients who underwent total arch replacement, had Marfan syndrome or had intramural haematoma were excluded. Seventy-two patients with predischarge and follow-up computed tomography scans were enrolled. Patients with and without re-entries in the arch branches after surgery were assigned to the supra-aortic entry (SAE, n = 21) and no supra-aortic entry (n = 51) groups, respectively. Diameters were measured at 7 levels: the innominate artery, left common carotid artery, left subclavian artery, 20 mm distal to the left subclavian artery, pulmonary artery bifurcation, coeliac axis and maximal diameter of the descending thoracic aorta. Growth rates at the levels of the pulmonary artery bifurcation and 20 mm distal to the left subclavian artery were significantly higher in the SAE group than in the no supra-aortic entry group. The rate of freedom from major adverse aortic events (annual growth >5 mm or maximal diameter of the descending thoracic aorta >50 mm) at 5 years was significantly higher in the no supra-aortic entry group than in the SAE group. Remnant SAE leads to unfavourable aortic remodelling after acute Type I aortic dissection repair. © The Author(s) 2018. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  4. Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia

    Directory of Open Access Journals (Sweden)

    Adrian Kee Keong Teo

    2016-03-01

    Full Text Available Patients with an HNF1BS148L/+ mutation (MODY5 typically exhibit pancreatic hypoplasia. However, the molecular mechanisms are unknown due to inaccessibility of patient material and because mouse models do not fully recapitulate MODY5. Here, we differentiated MODY5 human-induced pluripotent stem cells (hiPSCs into pancreatic progenitors, and show that the HNF1BS148L/+ mutation causes a compensatory increase in several pancreatic transcription factors, and surprisingly, a decrease in PAX6 pancreatic gene expression. The lack of suppression of PDX1, PTF1A, GATA4, and GATA6 indicates that MODY5-mediated pancreatic hypoplasia is mechanistically independent. Overexpression studies demonstrate that a compensatory increase in PDX1 gene expression is due to mutant HNF1BS148L/+ but not wild-type HNF1B or HNF1A. Furthermore, HNF1B does not appear to directly regulate PAX6 gene expression necessary for glucose tolerance. Our results demonstrate compensatory mechanisms in the pancreatic transcription factor network due to mutant HNF1BS148L/+ protein. Thus, patients typically develop MODY5 but not neonatal diabetes despite exhibiting pancreatic hypoplasia.

  5. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism

    Energy Technology Data Exchange (ETDEWEB)

    Yanase, Toshihiko; Takayanagi, Ryoichi; Oba, Koichi [Kyushu Univ., Fukuoka (Japan)] [and others

    1996-02-01

    Congenital adrenal hypoplasia, an X-linked disorder, is characterized by primary adrenal insufficiency and frequent association with hypogonadotropic hypogonadism. The X-chromosome gene DAX-1 has been most recently identified and shown to be responsible for this disorder. We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism by using PCR amplification of genomic DNA and its complete exonic sequencing. In a family containing several affected individuals, the proband male patient had a stop codon (TGA) in place of tryptophan (TGG) at amino acid position 171. As expected, his mother was a heterozygous carrier for the mutation, whereas his father and unaffected brother did not carry this mutation. In another male patient with noncontributory family history, sequencing revealed a 1-bp (T) deletion at amino acid position 280, leading to a frame shift and, subsequently a premature stop codon at amino acid position 371. The presence of this mutation in the patients` genome was further confirmed by digestion of genomic PCR product with MspI created by this mutation. Family studies using MspI digestion of genomic PCR products revealed that neither parent of this individual carried the mutation. These results clearly indicate that congenital adrenal hypoplasia and hypogonadotropic hypogonadism result from not only inherited but also de novo mutation in the DAX-1 gene. 31 refs., 4 figs., 2 tabs.

  6. Detection of increased frequency of thyroid hypoplasia in subjects irradiated in utero as the results of Chernobyl catastrophe

    Energy Technology Data Exchange (ETDEWEB)

    Drozd, V.; Danilova, L.; Lushchyk, M.; Leonova, T.; Platonova, T. [International Fund Arnica, Minsk (Belarus); Grigorovich, A.; Sivuda, V. [Brest Regional Endocrinological Dispensary, Brest (Belarus); Branovan, I. [Chernobyl Project, New-York (United States); Biko, I.; Reiners, C. [Clinic and Policlinic of Nuclear Medicine, University of Wurzburg, Wursburg (Germany)

    2012-07-01

    For the 24 years passed after the Chernobyl catastrophe a significant experience in estimation of medical consequences of thyroid irradiation among Belarus patients had been accumulated. The aim of our screening of ultrasonic examination was the detection of the thyroid hypoplasia prevalence in the regions affected with radionuclide fallout. Since 2004 to 2007 thyroid ultrasound with volume estimation was performed in 3311 Belarus subjects, living on the areas of Brest region with the different contamination rate density. Examined subjects were divided in 3 groups: 1) irradiated at the age of 1 to 3 years old at the moment of Chernobyl catastrophe, 2) irradiated in utero, and 3) born after the catastrophe. It was revealed that thyroid hypoplasia was detected in 3% of group 1 (out of 1876 persons), in 5, 8% of group 2 (out of 503 persons, P<0.05) and in 1, 7% of the third group (out of 932 persons). The separation of the irradiated in utero subjects (group 2) to subgroups in dependence of the gestation period, showed the highest prevalence of thyroid hypoplasia among the irradiated in the first trimester of gestation: 7, 7% (P<0.05), in the second trimester: 5, 3%, in the third trimester: 4, 7%

  7. Compliance between clinical and genetic diagnosis of choroidal hypoplasia in 103 Norwegian Border Collie puppies.

    Science.gov (United States)

    Grosås, Siv; Lingaas, Frode; Prestrud, Kristin Wear; Ropstad, Ernst-Otto

    2017-11-07

    To describe the frequency of the nonhomologous end-joining factor 1 (NHEJ1) mutation and the compliance between clinical and genetic diagnosis of choroidal hypoplasia (CH) in a group of Norwegian Border Collies. Border collie puppies in the age from 5 to 8 weeks. Puppies included in the study had a complete ophthalmological examination. All findings were recorded, and an ECVO scheme form was issued for each puppy. DNA samples were achieved from buccal swabs. Genetic typing was performed for the 7.8-kb deletion in the gene encoding NHEJ1. Dogs with none, one, or two copies of the mutated allele were classified as free, carriers, and affected, respectively. 103 Border Collie puppies from 16 litters, 52 females and 51 males, were included in the study. Ages ranged from 5.1 to 8.9 weeks. One puppy had clinical findings consistent with CH and optic nerve coloboma compatible with the diagnosis Collie Eye Anomaly (CEA). Findings on ophthalmological examination of the remaining puppies were within normal limits. On genetic testing, 85 puppies were clear of the mutation in the NHEJ1 gene, 17 puppies were carriers, and one puppy was genetically affected. A good compliance between the clinical diagnosis and the genetic test results was found in all of the puppies examined. The allele frequency of the mutation was 6.3%. © 2017 American College of Veterinary Ophthalmologists.

  8. Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

    Science.gov (United States)

    Reinier, Frederic; Zoledziewska, Magdalena; Hanna, David; Smith, Josh D; Valentini, Maria; Zara, Ilenia; Berutti, Riccardo; Sanna, Serena; Oppo, Manuela; Cusano, Roberto; Satta, Rosanna; Montesu, Maria Antonietta; Jones, Chris; Cerimele, Decio; Nickerson, Deborah A; Angius, Andrea; Cucca, Francesco; Cottoni, Francesca; Crisponi, Laura

    2015-11-01

    Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. Many efforts have been made in the last years in identifying the genetic etiologies of several lipodystrophy forms, although some remain to be elucidated. We report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (WES) analysis. This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1. We provided further genetic evidence that this is a disease-causing mutation along with a plausible molecular mechanism responsible for this recurring event. Moreover we overviewed the current classification of the inherited forms of lipodystrophy, along with their underlying molecular basis. Progress in the identification of lipodystrophy genes will help in better understanding the role of the pathways involved in the complex physiology of fat. This will lead to new targets towards develop innovative therapeutic strategies for treating the disorder and its metabolic complications, as well as more common forms of adipose tissue redistribution as observed in the metabolic syndrome and type 2 diabetes. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

    Science.gov (United States)

    Poulter, James A; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M; Sheridan, Eamonn; Carr, Ian M; Parry, David A; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I; Webster, Andrew R; Moore, Anthony T; Pal, Bishwanath; Mohamed, Moin D; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A; Hewitt, Alex W; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F; Toomes, Carmel

    2013-12-05

    Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  10. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21

    Energy Technology Data Exchange (ETDEWEB)

    Worley, K.C.; Ellison, K.A.; Zhang, Y.H.; Wang, D.F.; Mason, J.; Roth, E.J.; Adams, V.; Fogt, D.D.; Zhu, X.M.; Towbin, J.A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1993-05-01

    The adrenal hypoplasia congenita (AHC) and glycerol kinase (GK) loci are telomeric to the Duchenne muscular dystrophy locus in Xp21. The authors developed a pair of yeast artificial chromosome (YAC) contigs spanning at least 1.2 Mb and encompassing the region from the telomeric end of the Duchenne muscular dystrophy (DMD) locus to beyond YHX39 (DXS727), including the genes for AHC and GK. The centromeric contig consists of 13 YACs reaching more than 600 kb from DMD through GK. The telomeric contig group consists of 8 YACs containing more than 600 kb including the markers YHX39 (DXS727) and QST-59 (DXS319). Patient deletion breakpoints in the region of the two YAC contigs define at least eight intervals, and seven deletion breakpoints are contained within these contigs. In addition to the probes developed from YAC ends, they have mapped eight Alu-PCR probes amplified from a radiation-reduced somatic cell hybrid, two anonymous DNA probes, and one Alu-PCR product amplified from a cosmid end, for a total of 26 new markers within this region of 2 Mb or less. One YAC in the centromeric contig contains an insert encompassing the minimum interval for GK deficiency defined by patient deletion breakpoints, and this clone includes all or part of the GK gene. 33 refs., 3 figs., 5 tabs.

  11. The Placental Distal Villous Hypoplasia Pattern: Interobserver Agreement and Automated Fractal Dimension as an Objective Metric.

    Science.gov (United States)

    Mukherjee, Anika; Chan, Adrian D C; Keating, Sarah; Redline, Raymond W; Fritsch, Michael K; Machin, Geoffrey A; Cornejo-Palma, Daniel; de Nanassy, Joseph; El-Demellawy, Dina; von Dadelszen, Peter; Benton, Samantha J; Grynspan, David

    2016-01-01

    The distal villous hypoplasia (DVH) pattern is a placental correlate of fetal growth restriction. Because the pattern seems to involve less complexity than do appropriately developed placental villi, we postulated that it may be associated with lower fractal dimension-a mathematical measure of complexity. Our study objectives were to evaluate interobserver agreement related to the DVH pattern among expert pathologists and to determine whether pathologist classification of DVH correlates with fractal dimension. A study set of 30 images of placental parenchyma at ×4 magnification was created by a single pathologist from a digital slide archive. The images were graded for the DVH pattern according to pre-specified definitions and included 10 images graded as "no DVH" (grade  =  0), 10 with mild to moderate DVH (grade  =  1), and 10 with severe DVH (grade  =  2). The images were randomly sorted and shown to a panel of 4 international experts who similarly graded the images for DVH. Weighted kappas were calculated. For each image, fractal dimension was calculated by the Box Counting method. The correlation coefficient between (1) the averaged DVH scores obtained by the 5 pathologists and (2) fractal dimension was calculated. The mean weighted kappa score among the observers was 0.59 (range: 0.42-0.70). The correlation coefficient between fractal dimension and the averaged DVH score was -0.915 (P fractal dimension and represents an objective measure for DVH.

  12. Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haploinsufficiency.

    Science.gov (United States)

    Hanish, Alyson E; Butman, John A; Thomas, Francine; Yao, Jianhua; Han, Joan C

    2016-02-01

    In rodent studies, paired box 6 (PAX6) appears to play an important role in the development of the pineal, the primary source of the circadian regulating hormone, melatonin. Pineal hypoplasia has been previously reported in patients with PAX6 haploinsufficiency (+/−); however, pineal measurement, melatonin concentrations and sleep quality have not been reported. This cross-sectional descriptive study examined pineal volume, melatonin secretion and sleep disturbance in 37 patients with PAX6+/− (age 15.3 ± 9.9 years) and 17 healthy controls (16.0 ± 7.2 years), within an inpatient setting at the Clinical Research Center of the National Institutes of Health, Bethesda, Maryland, USA. Pineal volume was evaluated by magnetic resonance imaging. Diurnal serum cortisol, serum melatonin and urine 6-sulphatoxymelatonin concentrations were measured by enzyme-linked immunosorbent assay. The Child Sleep Habits Questionnaire was administered for patients cortisol was similar in PAX6+/− versus controls (P = 0.14). Midnight serum melatonin was > twofold lower in PAX6+/− versus controls [median (25th-75 th): 28 (22-42) versus 71 (46-88) pg mL-(1), P melatonin secretion and greater parental report of sleep disturbances in children. Further studies are needed to explore the potential use of melatonin replacement for improving sleep quality in patients with PAX6+/−. © 2015 The Authors. Journal of Sleep Research published by John Wiley & Sons Ltd on behalf of European Sleep Research Society.

  13. Early results of valve-sparing ascending aortic replacement in type A aortic dissection and aortic insufficiency

    Directory of Open Access Journals (Sweden)

    М. Л. Гордеев

    2016-08-01

    Full Text Available Aim: The study was designed to investigate predictors of effective valve-sparing ascending aortic replacement in patients with Stanford type A aortic dissection combined with aortic insufficiency and to analyze efficacy and safety of this kind of surgery.Methods: From January 2010 to December 2015, 49 patients with Stanford type A aortic dissection combined with aortic insufficiency underwent ascending aortic replacement. All patients were divided into 3 groups: valve-sparing procedures (group 1, n = 11, combined aortic valve and supracoronary ascending aortic replacement (group 2, n = 12, and Bentall procedure (group 3, n = 26. We assessed the initial status of patients, incidence of complications and efficacy of valve-sparing ascending aortic replacement.Results: The hospital mortality rate was 8.2% (4/49 patients. The amount of surgical correction correlated with the initial diameter of the aorta at the level of the sinuses of Valsalva. During the hospital period, none of patients from group 1 developed aortic insufficiency exceeding Grade 2 and the vast majority of patients had trivial aortic regurgitation. The parameters of cardiopulmonary bypass, cross-clamp time and circulatory arrest time did not correlate with the initial size of the ascending aorta and aortic valve blood flow impairment, neither did they influence significantly the incidence and severity of neurological complications. The baseline size of the ascending aorta and degree of aortic regurgitation did not impact the course of the early hospital period.Conclusions: Supracoronary ascending aortic replacement combined with aortic valve repair in ascending aortic dissection and aortic regurgitation is effective and safe. The initial size of the ascending aorta and aortic arch do not influence immediate results. The diameter of the aorta at the level of the sinuses of Valsalva and the condition of aortic valve leaflets could be considered as the limiting factors. Further long

  14. Does altered aortic flow in marfan syndrome relate to aortic root dilatation?

    Science.gov (United States)

    Wang, Hung-Hsuan; Chiu, Hsin-Hui; Tseng, Wen-Yih Isaac; Peng, Hsu-Hsia

    2016-08-01

    To examine possible hemodynamic alterations in adolescent to adult Marfan syndrome (MFS) patients with aortic root dilatation. Four-dimensional flow MRI was performed in 20 MFS patients and 12 age-matched normal subjects with a 3T system. The cross-sectional areas of 10 planes along the aorta were segmented for calculating the axial and circumferential wall shear stress (WSSaxial , WSScirc ), oscillatory shear index (OSIaxial , OSIcirc ), and the nonroundness (NR), presenting the asymmetry of segmental WSS. Pearson's correlation analysis was performed to present the correlations between the quantified indices and the body surface area (BSA), aortic root diameter (ARD), and Z score of the ARD. P < 0.05 indicated statistical significance. Patients exhibited lower WSSaxial in the aortic root and the WSScirc in the arch (P < 0.05-0.001). MFS patients exhibited higher OSIaxial and OSIcirc in the sinotubular junction and arch, but lower OSIcirc in the descending aorta (all P < 0.05). The NR values were lower in patients (P < 0.05). The WSSaxial or WSScirc exhibited moderate to strong correlations with BSA, ARD, or Z score (R(2)  = 0.50-0.72) in MFS patients. The significant differences in the quantified indices, which were associated with BSA, ARD, or Z score, in MFS were opposite to previous reports for younger MFS patients, indicating that altered flows in MFS patients may depend on the disease progress. The possible time dependency of hemodynamic alterations in MFS patients strongly suggests that longitudinal follow-up of 4D Flow is needed to comprehend disease progress. J. Magn. Reson. Imaging 2016;44:500-508. © 2016 Wiley Periodicals, Inc.

  15. Is there a role of statins in the prevention of aortic biological prostheses degeneration

    Directory of Open Access Journals (Sweden)

    Popescu Bogdan A

    2006-06-01

    Full Text Available Abstract It has been recently observed that statins might slow the progression of aortic stenosis or sclerosis. Preliminary reports suggested a similar positive effect in reducing the degeneration of aortic valve bioprostheses even though this hypothesis should be further proven and supported by new data. In this review the present evidences of the possible effects of statins in this field are discussed.

  16. Progressive Supranuclear Palsy-like Syndrome After Aortic Aneurysm Repair: A Case Series

    Directory of Open Access Journals (Sweden)

    Sirisha Nandipati

    2013-12-01

    Full Text Available The syndrome of progressive supranuclear palsy‐like syndrome is a rare complication of ascending aortic aneurysm repair. We report two patients with videos and present a table of prior reported cases. To our knowledge there is no previously published video of this syndrome. The suspected mechanism is brainstem injury though neuroimaging is often negative for an associated infarct. We hope our report will increase recognition of this syndrome after aortic surgery, especially in patients with visual complaints.

  17. Upper gastrointestinal obstruction secondary to aortoduodenal syndrome owing to a noninflammatory abdominal aortic aneurysm.

    LENUS (Irish Health Repository)

    Cahill, Kevin

    2012-01-31

    Aortoduodenal syndrome is a rare complication of an abdominal aortic aneurysm wherein the aneurysm sac obstructs the patient\\'s duodenum. It presents with the symptoms of an upper gastrointestinal tract obstruction and requires surgical intervention to relieve it. Previously, gastric bypass surgery was advocated, but now aortic replacement is the mainstay of treatment. We report a case of a 67-year-old woman whose aortoduodenal syndrome was successfully managed and review the literature on this topic.

  18. Risks and Challenges of Surgery for Aortic Prosthetic Valve Endocarditis.

    Science.gov (United States)

    Grubitzsch, Herko; Tarar, Waharat; Claus, Benjamin; Gabbieri, Davide; Falk, Volkmar; Christ, Torsten

    2018-03-01

    Prosthetic valve endocarditis is the most severe form of infective endocarditis. This study assessed the risks and challenges of surgery for aortic prosthetic valve endocarditis. In total, 116 consecutive patients (98 males, age 65.2±12.7years), who underwent redo-surgery for active aortic prosthetic valve endocarditis between 2000 and 2014, were reviewed. Cox regression analysis was used to identify factors for aortic root destructions as well as for morbidity and mortality. Median follow-up was 3.8 years (0-13.9 years). Aortic root destructions (42 limited and 29 multiple lesions) were associated with early prosthetic valve endocarditis and delayed diagnosis (≥14 d), but not with mortality. There were 16 (13.8%) early (≤30 d) and 32 (27.6%) late (>30 days) deaths. Survival at 1, 5, and 10 years was 72±4.3%, 56±5.4%, and 46±6.4%, respectively. The cumulative incidence of death, reinfection, and reoperation was 19.0% at 30days and 36.2% at 1year. Delayed diagnosis, concomitant procedures, and EuroSCORE II >20% were predictors for early mortality and need for mechanical circulatory support, age >70years, and critical preoperative state were predictors for late mortality. In their absence, survival at 10 years was 70±8.4%. Reinfections and reoperations occurred more frequently if ≥1 risk factor for endocarditis and aortic root destructions were present. At 10 years, freedom from reinfection and reoperation was 89±4.2% and 91±4.0%. The risks of death, reinfection, and reoperation are significant within the first year after surgery for aortic prosthetic valve endocarditis. Early diagnosis and aortic root destructions are the most important challenges, but advanced age, critical preoperative state, and the need for mechanical circulatory support determine long-term survival. Copyright © 2017 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B

  19. Aortic non communicating dissections. A study with helical CT

    International Nuclear Information System (INIS)

    Midiri, M.; Strada, A.; Stabile Ianora, A.A.; Rotondo, A.; Angelelli, G.; D'Agostino, D.; De Luca Tupputi Schinosa, L.

    2000-01-01

    confused with aortic dissection. The imaging techniques (TEE, CT, MRI) have an important role in the final diagnosis of aortic hematoma. Presently Helical CT and MR angiography are the main tools in the early diagnosis of this condition before the development of complications. In this experience helical CT, before and after the administration of contrast material, was accurate in identifying the hematoma localization and extension [it

  20. Transcatheter aortic valve implantation vs. surgical aortic valve replacement for treatment of severe aortic stenosis

    DEFF Research Database (Denmark)

    Siontis, George C M; Praz, Fabien; Pilgrim, Thomas

    2016-01-01

    AIMS: In view of the currently available evidence from randomized trials, we aimed to compare the collective safety and efficacy of transcatheter aortic valve implantation (TAVI) vs. surgical aortic valve replacement (SAVR) across the spectrum of risk and in important subgroups. METHODS AND RESULTS......: Trials comparing TAVI vs. SAVR were identified through Medline, Embase, and Cochrane databases. The primary outcome was death from any cause at 2 years. We performed random-effects meta-analyses to combine the available evidence and to evaluate the effect in different subgroups. This systematic review...... and meta-analysis is registered with PROSPERO (CRD42016037273). We identified four eligible trials including 3806 participants, who were randomly assigned to undergo TAVI (n = 1898) or SAVR (n = 1908). For the primary outcome of death from any cause, TAVI when compared with SAVR was associated...

  1. Marfan's syndrome presenting with abdominal aortic aneurysm: A ...

    African Journals Online (AJOL)

    West African Journal of Medicine. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 22, No 1 (2003) >. Log in or Register to get access to full text downloads.

  2. [Unicuspid Aortic Valve Stenosis Combined with Aortic Coarctation;Report of a Case].

    Science.gov (United States)

    Kubota, Takehiro; Wakasa, Satoru; Shingu, Yasushige; Matsui, Yoshiro

    2016-06-01

    Unicuspid aortic valve in an adult is extremely rare. In addition, 90% of the patients with aortic coarctation are reported to die before the age 50. A 60-year-old woman was admitted to our hospital for further examination of exertional dyspnea which had begun one year before. She had been under medical treatment for hypertension since early thirties, and had been also diagnosed with moderate aortic stenosis at 50 years of age. She was at 1st diagnosed with aortic coarctation combined with bicuspid aortic valve stenosis. The aortic valve was then found unicuspid and was replaced under cardiopulmonary bypass with perfusion to both the ascending aorta and the femoral artery. Repair of aortic coarctation was performed 3 months later through left thoracotomy without extracorporeal circulation due to the rich collateral circulation. She had no postoperative complications, and hypertension as well as ankle-brachial index improved to the normal levels.

  3. Aortic Dissection and Thrombosis Diagnosed by Emergency Ultrasound in a Patient with Leg Pain and Paralysis

    Directory of Open Access Journals (Sweden)

    Ann H. Tsung

    2013-01-01

    Full Text Available The authors present a case of aortic dissection and abdominal aortic aneurysm thrombosis in a 78-year-old male who presented to the emergency department (ED complaining of lower extremity and paralysis for the past 1.5 hours. The initial vital signs in the ED were as follows: blood pressure (BP 132/88 mmHg, heart rate (HR 96, respiratory rate (RR 14, and an oxygen saturation of 94% at room air. Physical exam was notable for pale and cold left leg. The ED physician was unable to palpate or detect a Doppler signal in the left femoral artery. Bedside ultrasound was performed which showed non-pulsatile left femoral artery and limited flow on color Doppler. Abdominal aortic aneurysm screening ultrasound was performed showing a 4.99 cm infrarenal abdominal aortic aneurysm and an intra-aortic thrombus with an intimal flap. Vascular surgery was promptly contacted and the patient underwent emergent aorto-bi-femoral bypass, bilateral four compartment fasciotomy, right common femoral artery endarterectomy with profundoplasty, and subsequent left leg amputation. Emergency physicians should utilize bedside ultrasound in patients who present with risk factors or threatening signs and symptoms that may suggest aortic dissection or aneurysm. Bedside ultrasound decreases time to definitive treatment and the mortality of the patients.

  4. Acute Aortic Dissection in Pregnancy in a Woman with Undiagnosed Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Mandana Master

    2012-01-01

    Full Text Available We report a case of acute aortic dissection in a lady of 28 weeks of gestation with undiagnosed Marfan syndrome. The patient had been seen in our antenatal clinics. Her history documented in her pregnancy record was negative for genetic/congenital abnormalities. There was no family history documented. Subsequently, at 28 weeks of gestation, the patient presented with sudden onset chest, jaw, and back pain. Further history revealed that her father had died at the age of 27 of an aortic dissection. Echocardiography showed aortic root dissection with occlusion of aortic branches. She subsequently underwent an emergency lower segment caesarean section followed by surgical repair of type A dissection. A simultaneous type B dissection was managed conservatively. On later examination, our patient fulfilled the diagnostic criteria for phenotypic expression of Marfan syndrome. Genetic testing also confirmed that she has a mutation of the fibrillin (FBN 1 gene associated with the disease.

  5. Stenting for infantile adult aortic coarctation with successful conception of zygomatic twins at 4 years' post-intervention.

    LENUS (Irish Health Repository)

    Waters, Peadar S

    2013-01-01

    Aortic coarctation is a congenital defect which rarely presents in adulthood but results in significant morbidity and mortality. Endovascular techniques present novel therapeutic options for managing this anomaly with comparable results to traditional open surgical repair.

  6. [The cost of innovation in treating aortic stenosis: transcatheter aortic valve implantation].

    Science.gov (United States)

    Bartoli, Simona; Saia, Francesco; Marrozzini, Cinzia; Berti, Elena; Guastaroba, Paolo; Fortuna, Daniela; Ciuca, Cristina; Moretti, Carolina; Marzocchi, Antonio; De Palma, Rossana

    2012-01-01

    Transcatheter aortic valve implantation (TAVI) represents a promising therapeutic option for patients affected by severe aortic stenosis, but it is currently associated with high costs. Therefore, the assessment of its economic impact becomes urgent to support decision-makers' choices about its use, patient access to treatment and reimbursement mechanisms. A retrospective, observational, single-center (the teaching hospital located in Bologna, Italy) study was conducted. All patients with severe symptomatic aortic stenosis undergoing TAVI during the enrolment period (February 2008-August 2010) were included. The procedures were performed with both bioprostheses approved for clinical use and through different vascular access: CoreValve transfemoral (CV-TF), CoreValve transsubclavian (CV-TS), Edwards Sapien transapical (ES-TA), Edwards Sapien transfemoral (ES-TF). Costs of the whole index hospitalization have been calculated from the hospital perspective. Healthcare resource consumption was measured at patient level and assessed using unit costs (micro-costing approach). Overall, 87 consecutive patients (48 CV-TF, 12 CV-TS, 20 ES-TA, 7 ES-TF) were included in the study. They presented a high-risk profile (age 83.3 ± 5.4 years; logistic EuroSCORE 23.3 ± 12.3%) and important comorbidity. In-hospital mortality was 3.4%. Total cost of hospitalization was, on average, €35.841 (range €27.267-69.744) of which 68% was attributable to the procedure. A huge variation in costs was observed among different treatment groups. Patients treated with transfemoral implant (CV-TF: €33.977; ES-TF: €31.442) were on average less expensive than others (CV-TS: €37.035; ES-TA: €41.139). Our findings show that treating patients with TAVI places a heavy burden on hospital budget. Hence, due to the shortage of financial resources, affordability of TAVI requires further attention.

  7. Aortitis and aortic occlusion in Crohn disease.

    Science.gov (United States)

    Delay, Charline; Schwein, Adeline; Lejay, Anne; Gaertner, Sébastien; Aleil, Boris; Thaveau, Fabien; Georg, Yannick; Chakfe, Nabil

    2015-02-01

    Patients with Crohn disease (CD) or ulcerative colitis are known to be at increased risk of arterial thromboembolic complications. We report the case of a 33-year-old woman suffering from CD for 19 years who presented lower limb claudication. Computed tomography scan revealed an aortoiliac occlusion extending from the level of the inferior mesenteric artery to both iliac bifurcations. Endovascular recanalization was attempted as a first option but failed. We then performed an aortobi-femoral bypass through a left retroperitoneal approach that allowed a total relief of the symptoms. Histologic study of the aorta demonstrated a nonspecific aortitis with lymphohistiocytic cell infiltration in the media and adventitia tunica. There was no signs of associated vasculitis. At the light of a literature review, we discussed our surgical strategy and the inflammation of the aortic wall as local factor of thrombosis that has never been previously described. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. An 18-cm unruptured abdominal aortic aneurysm

    Directory of Open Access Journals (Sweden)

    Nathan M. Droz, MD

    2017-03-01

    Full Text Available Abdominal aortic aneurysm (AAA is a significant source of morbidity and ranked by the Centers for Disease Control and Prevention as the 15th leading cause of death among adults aged 60 to 64 years. Size confers the largest risk factor for aneurysm rupture, with aneurysms >6 cm having an annual rupture risk of 14.1%. We present the case of a 60-year-old man found on ultrasound imaging at a health fair screening to have a 15-cm AAA. Follow-up computed tomography angiography revealed an 18-cm × 10-cm unruptured, infrarenal, fusiform AAA. Giant AAAs, defined as >11 cm, are rarely described in the literature. Our patient underwent successful transperitoneal AAA repair with inferior mesenteric artery reimplantation and was discharged home on operative day 6. We believe this case represents one of the largest unruptured AAAs in the literature and demonstrates the feasible approach for successful repair.

  9. Transcatheter Aortic Valve Replacement in Europe

    DEFF Research Database (Denmark)

    Mylotte, Darren; Osnabrugge, Ruben L J; Windecker, Stephan

    2013-01-01

    The authors sought to examine the adoption of transcatheter aortic valve replacement (TAVR) in Western Europe and investigate factors that may influence the heterogeneous use of this therapy.......The authors sought to examine the adoption of transcatheter aortic valve replacement (TAVR) in Western Europe and investigate factors that may influence the heterogeneous use of this therapy....

  10. Intermittent mechanical and clinical intravalvar regurgitation aortic ...

    African Journals Online (AJOL)

    due to intravalvar occlusion caused by thrombosis and/or tissue ingrowth or to periprosthetic regurgitation. .... position). A. The tilting disc of the prosthetic aortic valve is in the normal closed position during diastole. B. The disc is 'stuck' in the open position during diastole. Intermittent AR in patients with aortic prosthetic ...

  11. Valve-sparing aortic root replacement†

    NARCIS (Netherlands)

    Koolbergen, David R.; Manshanden, Johan S. J.; Bouma, Berto J.; Blom, Nico A.; Mulder, Barbara J. M.; de Mol, Bas A. J. M.; Hazekamp, Mark G.

    2015-01-01

    To evaluate our results of valve-sparing aortic root replacement and associated (multiple) valve repair. From September 2003 to September 2013, 97 patients had valve-sparing aortic root replacement procedures. Patient records and preoperative, postoperative and recent echocardiograms were reviewed.

  12. Thoracic aortic catastrophes : towards the endovascular solution

    NARCIS (Netherlands)

    Jonker, F.H.W.

    2010-01-01

    Descending thoracic aortic catastrophes include a variety of acute pathologies of the descending thoracic aorta, which are all associated with high morbidity and mortality rates, requiring immediate intervention. For this thesis, we explored the management and outcomes of several thoracic aortic

  13. Graft infections after surgical aortic reconstructions

    NARCIS (Netherlands)

    Berger, P.

    2015-01-01

    Prosthetic vascular grafts are frequently used to reconstruct (part) of the aorta. Every surgical procedure caries a certain risk for infection and when a prosthetic aortic graft is implanted, this may lead to an aortic graft infection (AGI). Endovascular techniques have gradually replaced open

  14. Aortic Graft Infection Secondary to Iatrogenic Transcolonic Graft Malposition.

    Science.gov (United States)

    Blank, Jacqueline J; Rothstein, Abby E; Lee, Cheong Jun; Malinowski, Michael J; Lewis, Brian D; Ridolfi, Timothy J; Otterson, Mary F

    2018-01-01

    Aortic graft infections are a rare but devastating complication of aortic revascularization. Often infections occur due to contamination at the time of surgery. Iatrogenic misplacement of the limbs of an aortobifemoral graft is exceedingly rare, and principles of evaluation and treatment are not well defined. We report 2 cases of aortobifemoral bypass graft malposition through the colon. Case 1 is a 54-year-old male who underwent aortobifemoral bypass grafting for acute limb ischemia. He had previously undergone a partial sigmoid colectomy for diverticulitis. Approximately 6 months after vascular surgery, he presented with an occult graft infection. Preoperative imaging and intraoperative findings were consistent with graft placement through the sigmoid colon. Case 2 is a 60-year-old male who underwent aortobifemoral bypass grafting due to a nonhealing wound after toe amputation. His postoperative course was complicated by pneumonia, bacteremia thought to be secondary to the pneumonia, general malaise, and persistent fevers. Approximately 10 weeks after the vascular surgery, he presented with imaging and intraoperative findings of graft malposition through the cecum. Aortic graft infection is usually caused by surgical contamination and presents as an indolent infection. Case 1 presented as such; Case 2 presented more acutely. Both grafts were iatrogenically misplaced through the colon at the index operation. The patients underwent extra-anatomic bypass and graft explantation and subsequently recovered.

  15. Renal failure caused by a partly calcified aortic aneurysm in a patient with dabigatran therapy: A case report.

    Science.gov (United States)

    Jud, Philipp; Gary, Thomas; Tiesenhausen, Kurt; Portugaller, Rupert; Hackl, Gerald; Brodmann, Marianne

    2017-04-01

    Abdominal aortic aneurysms (AAAs) are mostly asymptomatic. If aortic aneurysms become symptomatic, complications include peripheral embolization, acute aortic occlusion, and aortic rupture. However, there are also unusual complications caused by aortic aneurysms. An 87-old male with dabigatran therapy presented with newly developed melena and acute renal failure. Radiological imaging revealed an AAA with thrombotic and calcified deposits which affected the renal arteries. Gastrointestinal bleeding and hypercoagulation caused by renal failure which was triggered in turn due to an AAA. Adapted antihypertensive therapy and initiation of simvastatin 40mg once daily as well as antiplatelet therapy with aspirin 50 mg once daily due to patient's refusal of any aneurysm intervention. Neither bleeding event nor aneurysm rupture occurred with the adapted antihypertensive therapy, simvastatin and aspirin. Nonruptured AAAs can cause rare, unusual, and even life-threatening complications depending on their size and anatomical position.

  16. Combined transdiaphragmatic off-pump and minimally invasive coronary artery bypass with right gastroepiploic artery and abdominal aortic aneurysm repair.

    Science.gov (United States)

    Gürer, Onur; Haberal, Ismail; Ozsoy, Deniz

    2013-01-01

    Male, 74 FINAL DIAGNOSIS: Abdominal aortic aneurysm (AAA) Symptoms: Palpable abdominal mass Medication: - Clinical Procedure: Abdominal aortic aneurysm repair Specialty: Surgery. Rare disease. Coronary artery disease is common in elderly patients with abdominal aortic aneurysms. Here we report a case of the combination of surgical repair for abdominal aortic aneurysm and off-pump and minimally invasive coronary artery bypass surgery. A 74-year-old man who presented at our clinic with chest pain was diagnosed with an abdominal aortic aneurysm. His medical history included right coronary artery stenting. Physical examination revealed a pulsatile abdominal mass on the left side and palpable peripheral pulses. Computed tomography scans showed an infrarenal abdominal aneurysm with a 61-mm enlargement. Coronary angiography revealed 80% stenosis in the stent within the right coronary artery and 20% stenosis in the left main coronary artery. The patient underwent elective coronary artery bypass grafting and abdominal aortic aneurysm repair. Abdominal aortic aneurysm repair and transdiaphragmatic off-pump and minimal invasive coronary artery bypass grafting with right gastroepiploic artery were performed simultaneously in a single surgery. We report this case to emphasize the safety and effectiveness of transdiaphragmatic off-pump and minimally invasive coronary artery bypass surgery with abdominal aortic aneurysm repair. This combined approach shortens hospital stay and decreases cost.

  17. Ductal Stent Implantation in Tetralogy of Fallot with Aortic Arch Abnormality

    Science.gov (United States)

    Ergul, Yakup; Saygi, Murat; Ozyilmaz, Isa; Guzeltas, Alper; Odemis, Ender

    2015-01-01

    Stenting of patent ductus arteriosus is an alternative to palliative cardiac surgery in newborns with duct-dependent or decreased pulmonary circulation; however, the use of this technique in patients with an aortic arch abnormality presents a challenge. Tetralogy of Fallot is a congenital heart defect that is frequently associated with anomalies of the aortic arch and its branches. The association is even more common in patients with chromosome 22q11 deletion. We present the case of an 18-day-old male infant who had cyanosis and a heart murmur. After an initial echocardiographic evaluation, the patient was diagnosed with tetralogy of Fallot and right-sided aortic arch. The pulmonary annulus and the main pulmonary artery and its branches were slightly hypoplastic; the ductus arteriosus was small. Conventional and computed tomographic angiograms revealed a double aortic arch and an aberrant left subclavian artery. The right aortic arch branched into the subclavian arteries and continued into the descending aorta, whereas the left aortic arch branched into the common carotid arteries and ended with the patent ductus arteriosus. After evaluation of the ductal anatomy, we implanted a 3.5 × 15-mm coronary stent in the duct. Follow-up injections showed augmented pulmonary flow and an increase in oxygen saturation from 65% to 94%. The patient was also found to have chromosome 22q11 deletion. PMID:26175649

  18. Delayed recurrent nerve paralysis following post-traumatic aortic pseudoaneurysm

    Directory of Open Access Journals (Sweden)

    Mesolella Massimo

    2016-01-01

    Full Text Available Blunt trauma to the neck or to the chest are increasingly observed in the emergency clinical practice. They usually follow motor vehicle accidents or may be work or sports related. A wide pattern of clinical presentation can be potentially encountered. We report the uncommon case of a patient who was referred to our observation presenting with hoarseness and disphagia. Twenty days before he had sustained a car accident with trauma to the chest, neck and the mandible. Laryngoscopy showed a left recurrent laryngeal nerve palsy. Further otolaryngo-logical examination showed no other abnormality. At CT and MR imaging a post-traumatic aortic pseudoaneurysm was revealed. The aortic pseudoaneurysm was consequently repaired by implantation of an endovascular stent graft under local anesthesia. The patient was discharged 10 days later. At 30-days follow-up laryngoscopy the left vocal cord palsy was completely resolved.

  19. Perceval S aortic valve implantation in an achondroplastic Dwarf

    Directory of Open Access Journals (Sweden)

    Nikolaos G Baikoussis

    2016-01-01

    Full Text Available Despite cardiovascular disease in patients with dwarfism is not rare; there is a lack of reports referring to cardiac interventions in such patients. Dwarfism may be due to achondroplasia or hormonal growth disorders. We present a 58-year-old woman with episodes of dyspnea for several months. She underwent on transthoracic echocardiography, and she diagnosed with severe aortic valve stenosis. She referred to our department for surgical treatment of this finding. In accordance of her anthropometric characteristics and her very small aortic annulus, we had the dilemma of prosthesis selection. We decided to implant a stentless valve to optimize her effective orifice area. Our aim is to present the successful Perceval S valve implantation and the descriptions of the problems coming across in operating on these special patients. To our knowledge, this is the first case patient in which a Perceval S valve is implanted according to the international bibliography.

  20. Perceval S aortic valve implantation in an achondroplastic Dwarf.

    Science.gov (United States)

    Baikoussis, Nikolaos G; Argiriou, Michalis; Argiriou, Orestis; Dedeilias, Panagiotis

    2016-01-01

    Despite cardiovascular disease in patients with dwarfism is not rare; there is a lack of reports referring to cardiac interventions in such patients. Dwarfism may be due to achondroplasia or hormonal growth disorders. We present a 58-year-old woman with episodes of dyspnea for several months. She underwent on transthoracic echocardiography, and she diagnosed with severe aortic valve stenosis. She referred to our department for surgical treatment of this finding. In accordance of her anthropometric characteristics and her very small aortic annulus, we had the dilemma of prosthesis selection. We decided to implant a stentless valve to optimize her effective orifice area. Our aim is to present the successful Perceval S valve implantation and the descriptions of the problems coming across in operating on these special patients. To our knowledge, this is the first case patient in which a Perceval S valve is implanted according to the international bibliography.