Sample records for aortic hypoplasia presented

  1. Brainstem hypoplasia presenting with mirror movement

    Directory of Open Access Journals (Sweden)

    Burcu Ekmekçi


    Full Text Available 20 years old female patient, who had operated from congenital syndactyly on her left hand at five age, admitted to neurology policlinic with involuntary movement on her hands. We saw mirror movement (MM when she writing, catching with her left hand. This movement is had low amplitude in the right hand than left. Cervical MRG revealed no abnormality. Brain MRG revealed right middle, inferior cerebellary peduncle, olive and pyramid hypoplasia. Mirror movement shows homolog muscle activity which simulating contralateral movement, during a spesific task. This movement is seen usually upper extremity especially in the hand. Corticospinal tract dysfunction is often considered in the pathogenesis. MM may present as part of cervico medullary junction abnormality, cerebral palsy, cerebrovasculary disease, Parkinson disease. We wanted to discuss the patogenesis of MM in our patient with syndactyly and MRG abnormality.

  2. Isolated left ventricular apical hypoplasia with infundibular pulmonary and aortic stenosis: A rare combination

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Jin Il; Jeong, Yeon Joo; Lee, Gee Won; Choi, Jung Hyun; Lee, Ji Won [Medical Research Institute, Pusan National University Hospital, Busan (Korea, Republic of)


    Isolated left ventricular (LV) apical hypoplasia is a rare congenital cardiac anomaly which is not accompanied by other cardiac abnormalities, with the exception of two cases. We report a case of a 33-year-old male patient with isolated LV apical hypoplasia combined with infundibular pulmonary stenosis and aortic stenosis. We review a literature focusing on the characteristic magnetic resonance features and combined cardiac abnormalities.

  3. Pulmonary hypoplasia presenting with recurrent wheezing in an infant. (United States)

    Çeliksoy, Mehmet Halil; Tander, Burak; Aşılıoğlu, Nazik; Barış, Yakup Sancar; Yıldıran, Alişan


    Pulmonary hypoplasia is characterized by decrease in the number and size of pulmonary airways, alveoli and vessels. In autopsy, pulmonary hypoplasia is a major cause of death in neonates and infants. The disease is usually diagnosed in childhood period. Although it mimics lung parenchymal disease and other vascular abnormalities radiologically, it is easily recognized with computed tomography angiography and magnetic resonance angiography examinations. In 50% of patients, concomitant cardiovascular, neuromuscular, gastrointestinal tract, and urogenital anomalies are also available. There are two types of pulmonary hypoplasia: primary and secondary. Primary unilateral pulmonary hypoplasia may be asymptomatic and the tendency for bronchopulmonary infections is often increased in children. In this case report, a 22-month-old male patient characterized by recurrent infections and recurrent wheezes in infantile period, whose episodes of wheezing regressed after the pulmonectomy, was presented.

  4. Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. (United States)

    Crahes, Marie; Saugier-Veber, Pascale; Patrier, Sophie; Aziz, Moutaz; Pirot, Nathalie; Brasseur-Daudruy, Marie; Layet, Valérie; Frébourg, Thierry; Laquerrière, Annie


    Cartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations. So far, about 100 mutations have been reported in the promoter and the transcribed regions. Clinical characteristics include short-limbed short stature, sparse hair and defective cell-mediated immunity. We report herein the antenatal presentation of a female foetus, in whom CHH was suspected from 23 weeks' gestation, leading to a medical termination of the pregnancy at 34 weeks gestation, and thereafter confirmed by morphological and molecular studies. Post-mortem examination confirmed short stature and limbs, and revealed thymic hypoplasia associated with severe CD4 T-cell immunodeficiency along with extensive non caseating epithelioid granulomas in almost all organs, which to our knowledge has been described only in five cases. Molecular studies evidenced on one allele the most frequently reported founder mutation NR_003051: g.70A>G, which is present in 92% of Finnish patients with Cartilage Hair Hypoplasia. On the second allele, a novel mutation consisting of a 10 nucleotide insertion at position -18 of the promoter region of the RMRP gene (M29916.1:g.726_727insCTCACTACTC) was detected. The founder mutation was inherited from the father, and the novel mutation from the mother. To our knowledge, this case report represents the first detailed foetal analysis described in the literature.

  5. Focal dermal hypoplasia: Unusual presentation in Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Awadh Alamri


    Full Text Available Focal dermal hypoplasia (Goltz syndrome is a rare genetic multisystem characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females. We report a case of a two month-old baby girl who had dermal hypoplasia, atrophic skin lesions with telangiectasia in a linear pattern, fat herniations, papillomas and cleft of the upper lip, ectrodactyly, claw hands, microphthalmia and unusual association of gastrointestinal omphalocele.

  6. Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Jennifer L. Flint


    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. A Rare Presentation of Right Lung Hypoplasia Associated with Dextrocardia and Visceral Malposition

    Directory of Open Access Journals (Sweden)

    Ayşe Yıldırım


    Full Text Available Lung hypoplasia is often associated with pulmonary venous return abnormalities, referred to as the Scimitar syndrome, in pediatric patients. A two day-old male patient presented to our clinic with respiratory distress and mild cyanosis. Diagnostic studies revealed dextrocardia, right sided hypoplasia of upper and middle lung lobes and enlargement of the left lung due to the compensation, midline liver, right sided stomach and right sided spleen. No pulmonary venous return abnormalities were detected. This is the first report of lung hypoplasia associated with heterotaxy, visceral malposition and normal pulmonary venous return.

  8. Aortic Dissection Cases Presenting with Neurological Deficit

    Directory of Open Access Journals (Sweden)

    Sibel Mumcu


    Full Text Available Aortic dissection can be fatal in case of underdiagnosis, and early treatment is essential for the survival. Although acute onset of chest or back pain is most common presenting symptoms, some patients might present with atypical findings such as acute stroke, mesenteric ischaemia, renal failure or myocardial infarction. Here, we report two cases presenting emergency room with atypical findings of aortic dissection which diagnosis is made during etiologic work up for ischemic stroke.

  9. Painless aortic dissection presenting as paraplegia. (United States)

    Colak, Necmettin; Nazli, Yunus; Alpay, Mehmet Fatih; Akkaya, Ismail Olgun; Cakir, Omer


    Acute dissection of the aorta can be life-threatening. As a presenting manifestation of aortic dissection, neurologic complications such as paraplegia are rare. Herein, we report the case of a 51-year-old man who presented with sudden-onset paraplegia and ischemia of the legs, with no chest or back pain. His medical history included coronary artery bypass grafting. Physical examination revealed pulseless lower extremities, and computed tomography showed aortic dissection from the ascending aorta to the common iliac arteries bilaterally. A lumbar catheter was inserted for cerebrospinal fluid drainage, and axillary arterial cannulation was established. With the use of cardiopulmonary bypass, the aortic dissection was corrected, and the previous coronary artery grafts were reattached. The surgery restored spinal and lower-extremity perfusion, and the patient walked unaided from the hospital upon his discharge 5 days later. Although acute aortic dissection presenting as paraplegia is rare, it should be considered in patients who have pulseless femoral arteries bilaterally and sudden-onset paraplegia, despite no pain in the chest or back. Prompt diagnosis and intervention can prevent morbidity and death.

  10. Cardiac tamponade – presentation of type A aortic dissection

    Directory of Open Access Journals (Sweden)

    Opeyemi Fadahunsi


    Full Text Available Acute aortic dissection usually presents with severe chest and/or back pain but may have a varied presentation ranging from syncope, stroke, and heart failure to shock or tamponade. We present classic chest computed tomography images of a case of type A aortic dissection presenting with cardiac tamponade.

  11. Adult presentation with vascular ring due to double aortic arch. (United States)

    Kafka, Henryk; Uebing, Anselm; Mohiaddin, Raad


    This is a case report on the use of cardiovascular magnetic resonance imaging to diagnose vascular ring due to double aortic arch in an adult presenting with an abnormal chest X-ray. The experience in this case and the literature review identify the benefits of using cardiovascular magnetic resonance imaging to clarify complex aortic arch anatomy.

  12. [Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion]. (United States)

    Palano, G M; Licata, F; Carpinato, C; Sottile, F; Sciuto, R; Mattina, T; Distefano, G


    This article reports the case of newborn with multiple dimorphisms (microcephaly, hypertelorism, wide and flat nasal bridge, small nose, long philtrum, microretrognathia, malformed and low-set ears, short neck, redundant nuchal skin, genital anomalies), admitted in the hospital after two days from delivery for torpor, poor food and cyanosis. Babies were affected, at color-Doppler echocardiography, by coarctation of the aorta (CoA) with aortic arch hypoplasia. CoA is often associated to genetic and environmental factors that interact frequently. In this study the anamnestic absence of teratogen noxae and the presence of facial and genital anomalies suggest a genetic study to provide appropriate genetic information to parents. G-banding chromosomic analysis revealed a 46, XX der 4t(4;11) karyotype with partial 11q trisomy confirmed with FISH chromosome painting 4;11 and with FISH subtelomere specific 4(p/q)11(p/q). These techniques showed that derivative chromosome 4 was constituted by chromosome 4 with partial deletion in the q35 region and by 11q21 translocation. This rare anomaly is often inherited by an unbalanced segregation of a balanced translocation, present in one of the two parents. In the present study, the father carried a t(4q;11q) balanced translocation. A CGH-array analysis was executed to the child for the breakpoints definition. As 11q trisomy cases reported in literature are still few, this case can contribute to improve our knowledge on the genotype-phenotype correlation in this rare genetic anomaly.

  13. [Maxillary sinus hypoplasia]. (United States)

    Plaza, G; Ferrando, J; Martel, J; Toledano, A; de los Santos, G


    Maxillary sinus hypoplasia is rare, with an estimated prevalence of 1-5%. Out of the CT scans performed in sinusal patients between March 1998 and June 1999, we report on 4 isolated maxillary sinus hypoplasia, 4 maxillary sinus hypoplasia associated to concha bullosa, and 10 isolated conchae bullosas. All cases were evaluated by nasosinusal endoscopy and CT scan. Size, location and uni/bilateral presentation of concha bullosa is correlated to maxillary sinus hypoplasia presence, specially with regards to uncinate process presence, medial or lateral retraction. The pathogenesis of maxillary sinus hypoplasia is reviewed, and its relation to concha bullosa, evaluating how this could explain some cases of the so called chronic maxillary sinus atelectasia, as an acquired and progressive variant of maxillary sinus hypoplasia in adults.

  14. One-stage Surgical Correction of Aortic Coarctation Complicated With Aortic Arch Hypoplasia by Autologous Pulmonary Artery Patch%自体肺动脉补片一期矫治主动脉缩窄伴主动脉弓发育不良

    Institute of Scientific and Technical Information of China (English)

    王显悦; 毕生辉; 童光; 董文鹏; 王晓武; 梁爱琼; 徐宇; 张卫达


      结论:自体肺动脉补片一期矫治主动脉缩窄伴弓发育不良,病变解除良好,并发症少,手术后早中期效果理想。%Objective: To observe the outcomes of one-stage surgical correction of aortic coarctation (COA) complicated with aortic arch hypoplasia by autologous pulmonary artery patch. Methods: A total of 22 COA with aortic arch hypolasia children treated in our hospital from 2009-05 to 2013-05 were summarized. All patients were clearly diagnosed by CTA. All patients received the one-stage surgical correction of aortic coarctation complicated with aortic arch hypoplasia by autologous pulmonary artery patch. The selective low-lfow cerebral perfusion was used during aortic arch procedure and the concomitant cardiac anomalies were corrected during the same surgery. Results: No peri-operative death. There were 6 patients with the upper arm BP higher than lower arm immediately after the operation and the pressure gradient Conclusion: COA with aortic arch hypoplasia could be treated with one-stage surgical correction using autologous pulmonary artery patch, which had good early and mid term outcomes.

  15. A contained ruptured abdominal aortic aneurysm presenting with vertebral erosion. (United States)

    Li, Yongqi; Li, Lei; Zhang, Dongming; Wang, Xiaomei; Sun, Weidong; Wang, Han


    Chronic contained rupture (CCR) of abdominal aortic aneurysm (AAA) with vertebral erosion is a rare condition. Although it has been reported previously, it is still liable to be misdiagnosed. We present a case of CCR of AAA with vertebral erosion. A brief analysis of similar cases reported in the last five years is presented. A 71-year-old male was admitted to our hospital because of severe prickling pain in his left thigh. Computerized tomography angiography revealed an AAA which had caused erosion of L3 vertebral body and the left psoas muscle. An aortotomy was performed and the excised aortic aneurysm replaced with a Dacron graft. Postoperative CT angiography indicated a normal aortic graft. The patient was discharged 13 days after the surgery.

  16. Successful staged neonatal repair of tetralogy of Fallot with long-segment hypoplasia of the aorta. (United States)

    Lu, Jimmy C; Shah, Sanket S; Owens, Sonal T; Dorfman, Adam L; Vedre, Ameeth; Goble, Monica M; Hirsch, Jennifer C; Charpie, John R


    We describe an extremely rare combination of tetralogy of Fallot (TOF), right-sided cervical aortic arch with long-segment hypoplasia, and other vascular anomalies. A two-stage surgical approach included aortic arch reconstruction followed by right ventricular muscle bundle division and ventricular septal defect closure a few weeks later. The initial clinical presentation, perioperative course, and imaging studies are presented along with a review of the relevant literature. This is the first report of successful neonatal repair of TOF with long-segment hypoplasia of the aorta.

  17. Postsurgical aortic false aneurysm: pathogenesis, clinical presentation and surgical strategy. (United States)

    Raffa, Giuseppe M; Malvindi, Pietro G; Ornaghi, Diego; Basciu, Alessio; Barbone, Alessandro; Tarelli, Giuseppe; Settepani, Fabrizio


    Postsurgical aortic false aneurysm occurs in less than 0.5% of all cardiac surgical cases and its management is a challenge in terms of preoperative evaluation and surgical approach. Although infections are well recognized as risk factors, technical aspects of a previous operation may have a role in pseudoaneurysm formation. The risk factors and clinical presentation of pseudoaneurysms and the surgical strategy are revisited in this article.

  18. Acute Paraplegia as a Presentation of Aortic Saddle Embolism

    Directory of Open Access Journals (Sweden)

    Lisandro Irizarry


    Full Text Available Background. Acute onset paraplegia has a myriad of causes most often of a nonvascular origin. Vascular etiologies are infrequent causes and most often associated with postsurgical complications. Objective. To describe the occurrence and possible mechanism for aortic saddle embolism as a rare cause of acute paraplegia. Case Report. Described is a case of a 46-year-old female who presented with the sudden onset of nontraumatic low back pain with rapidly progressive paraplegia which was subsequently determined to be of vascular origin.

  19. Hybrid Treatment of Acute Abdominal Aortic Thrombosis Presenting with Paraplegia. (United States)

    Azzarone, Matteo; De Troia, Alessandro; Iazzolino, Luigi; Nabulsi, Bilal; Tecchio, Tiziano


    Acute thrombotic or embolic occlusion of the abdominal aorta is a rare vascular emergency associated with high morbidity and mortality rates. Classically, the clinical presentation is a severe peripheral ischemia with bilateral leg pain as the predominant feature. Aortic occlusion presenting as an isolated acute onset of paraplegia due to spinal cord ischemia is very rare and requires improved awareness to prevent adverse outcomes associated with delayed diagnosis. We report the case of a 54-year-old man who presented with sudden paraplegia due to the thrombotic occlusion of the infrarenal aorta involving the first segment of the common iliac arteries on both sides; emergent transperitoneal aorto iliac thrombectomy combined with the endovascular iliac kissing-stent technique were performed achieving perioperative complete regression of the symptoms.

  20. Transcatheter Aortic Valve Replacement: Comprehensive Review and Present Status (United States)

    Misenheimer, Jacob A.; Ramaraj, Radhakrishnan


    Aortic stenosis is the most common valvular heart disease in the developed world. About 7% of the population over age 65 years suffers from degenerative aortic stenosis. The prognosis of patients with symptomatic severe aortic stenosis is dismal without valve replacement. Even though the American College of Cardiology recommends aortic valve replacement to treat this condition as a class I recommendation, approximately one third of these patients over the age of 75 years are not referred for surgery. Typically, this is from concern about prohibitive surgical risk associated with patient frailty, comorbidities, age, and severe left ventricular dysfunction. The advent in France of transcatheter aortic valve replacement has raised the hope in the United States for an alternative, less invasive treatment for aortic stenosis. Two recent trials—the Placement of AoRTic TraNscathetER Valve Trial Edwards SAPIEN Transcatheter Heart Valve (Partner) and the CoreValve US Pivotal—have established transcatheter aortic valve replacement as the preferred approach in patients who are at high or prohibitive surgical risk. The more recently published Partner 2 trial has shown the feasibility of transcatheter aortic valve replacement in intermediate-surgical-risk patients as well. With a profile that promises easier use and better valve performance and delivery, newer-generation valves have shown their potential for further improvement in safety profile and overall outcomes. We review the history and status of this topic. PMID:28265210

  1. Advances of surgical and perfusion techniques for aortic arch hypoplasia%小儿主动脉弓发育不良的手术及灌注技术进展

    Institute of Scientific and Technical Information of China (English)

    毛乐; 祝忠群


    Currently the anatomic criteria for defining aortic arch hypoplasia have remained controversial.The major circumstances are proximal transverse aortic arch of <60% of ascending aortic diameter,a distal transverse aortic arch of <50% of ascending aortic diameter,an isthmus < 40%,a diameter of transverse arch < 50% of distal ascending aortic diameter or a diameter of transverse arch <50% of distal descending aortic diameter.One common rule-of-thumb is a diameter of transverse arch <0.1 mm for each 1 kg body weight,z-score:the diameter of each segment < two standard deviations below average,z-score <2.0.There is a wide spectrum of aortic arch hypoplasia.And each patient has different anatomic and physiological characteristics.Aortic arch hypoplasia usually occurs in association with intra-cardiac anomalies.And its rates of complication,reintervention and mortality are unsatisfactory.The major surgical techniques are extended end-to-end anastomosis,subclavian flap approach,end-to-side anastomosis and patch aortoplasty.And the major perfusion techniques include deep hypothermic circuitry arrest and selective cerebral perfusion.A proper selection of surgical approaches and perfusion techniques may improve the outcomes.According to the specific status of aortic arch hypoplasia patient,individualized treatment is needed.Here we make a review of progress of surgery and perfusion technique in aortic arch hypoplasia.%目前,小儿主动脉弓发育不良的定义存在争议,主要的评价方法有:①近弓、远弓和峡部分别<升主动脉的60%、50%和40%、或者横弓直径<升主动脉远端的50%、或者横弓直径<降主动脉直径的50%;②经验法则:横弓直径(mm)<体重(kg)+1;③Z值:不同节段的大小低于正常平均值的两个标准差以下,即Z值<-2.小儿主动脉弓发育不良病变谱广,不同患儿解剖和生理特点差异大,且常合并各类心内畸形,小儿主动脉弓发育不良

  2. Contralateral approach to iliac artery recanalization with kissing nitinol stents present in the aortic bifurcation. (United States)

    Joseph, George; Hooda, Amit; Thomson, Viji Samuel


    A 69-year-old man, who had earlier undergone reconstruction of the aortic bifurcation with kissing nitinol stents, presented with occlusion of the left external iliac artery. The occlusion was successfully and safely recanalized using contralateral femoral approach with passage of interventional hardware through the struts of the stents in the aortic bifurcation. Presence of contemporary flexible nitinol stents with open-cell design in the aortic bifurcation is not a contraindication to the use of the contralateral femoral approach.

  3. Unusual presenting of acute aortic dissection due to penetrating atheromatous ulcer. (United States)

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


    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.

  4. Chronic Bilateral Slipped Capital Femoral Epiphysis as an Unusual Presentation of Congenital Panhypopituitarism due to Pituitary Hypoplasia in a 17-Year-Old Female

    Directory of Open Access Journals (Sweden)

    Sasigarn A. Bowden


    Full Text Available We report an interesting case of a 17-year-old normal-statured female who was diagnosed with congenital panhypopituitarism due to pituitary hypoplasia at the presentation of bilateral slipped capital femoral epiphysis. We emphasized the importance of endocrinologic evaluation in patients with atypical slipped capital femoral epiphysis to prevent potential complication of adrenal crisis during surgery. This case also demonstrates growth without growth hormone which resulted in a delay in diagnosis of congenital hypopituitarism in this patient.

  5. Chronic Bilateral Slipped Capital Femoral Epiphysis as an Unusual Presentation of Congenital Panhypopituitarism due to Pituitary Hypoplasia in a 17-Year-Old Female

    Directory of Open Access Journals (Sweden)

    Klingele KevinE


    Full Text Available We report an interesting case of a 17-year-old normal-statured female who was diagnosed with congenital panhypopituitarism due to pituitary hypoplasia at the presentation of bilateral slipped capital femoral epiphysis. We emphasized the importance of endocrinologic evaluation in patients with atypical slipped capital femoral epiphysis to prevent potential complication of adrenal crisis during surgery. This case also demonstrates growth without growth hormone which resulted in a delay in diagnosis of congenital hypopituitarism in this patient.

  6. Aortic anomalies in an adolescent with the Williams' elfin facies syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Williams, R.L.; Azouz, E.M.


    An adolescent with classical Williams' syndrome who presented with hypertensive encephalopathy is described. He had the unusual combination of supravalvular aortic stenosis, long segment coarctation of the aorta, aortic hypoplasia and a high bifurcation of the abdominal aorta. Surgical resection of the coarctation was required; however, the patient has remained moderately hypertensive. The aortic anomalies in this syndrome are reviewed and their frequency and importance examined.

  7. Comparison of outcomes and presentation in men-versus-women with bicuspid aortic valves undergoing aortic valve replacement. (United States)

    Andrei, Adin-Cristian; Yadlapati, Ajay; Malaisrie, S Chris; Puthumana, Jyothy J; Li, Zhi; Rigolin, Vera H; Mendelson, Marla; Clennon, Colleen; Kruse, Jane; Fedak, Paul W M; Thomas, James D; Higgins, Jennifer A; Rinewalt, Daniel; Bonow, Robert O; McCarthy, Patrick M


    Gender disparities in short- and long-term outcomes have been documented in cardiac and valvular heart surgery. However, there is a paucity of data regarding these differences in the bicuspid aortic valve (BAV) population. The aim of this study was to examine gender-specific differences in short- and long-term outcomes after surgical aortic valve (AV) replacement in patients with BAV. A retrospective analysis was performed in 628 consecutive patients with BAV who underwent AV surgery from April 2004 to December 2013. To reduce bias when comparing outcomes by gender, propensity score matching obtained on the basis of potential confounders was used. Women with BAV who underwent AV surgery presented with more advanced age (mean 60.7 ± 13.8 vs 56.3 ± 13.6 years, p <0.001) and less aortic regurgitation (29% vs 44%, p <0.001) and had a higher risk for in-hospital mortality (mean Ambler score 3.4 ± 4.4 vs 2.5 ± 4.0, p = 0.015). After propensity score matching, women received more blood products postoperatively (48% vs 34%, p = 0.028) and had more prolonged postoperative lengths of stay (median 5 days [interquartile range 5 to 7] vs 5 days [interquartile range 4 to 6], p = 0.027). Operative, discharge, and 30-day mortality and overall survival were not significantly different. In conclusion, women with BAV who underwent AV surgery were older, presented with less aortic regurgitation, and had increased co-morbidities, lending higher operative risk. Although women received more blood products and had significantly longer lengths of stay, short- and long-term outcomes were similar.

  8. Unusual presentation of aortic dissection: post-coital acute paraplegia with renal failure. (United States)

    Galabada, Dinith P; Nazar, Abdul L M


    We report the case of a 45-year-old chronic smoker who presented with acute paraplegia occurring during coitus and subsequently developed acute renal failure (ARF) requiring dialysis. He had absent peripheral pulses in the lower limbs with evidence of acute ischemia. Doppler study showed dissecting aneurysm of thoracic aorta, thrombotic occlusion of the distal aorta from L1 level up to bifurcation and occlusion of the right renal artery by a thrombus that was confirmed by magnetic resonance imaging of the spine. He was not subjected to any vascular intervention as his lower limbs were not salvageable due to delay in the diagnosis. Post-coital aortic dissection and aortic dissection presenting with acute paraplegia and ARF are very rare. This is probably the first case report with post-coital acute aortic dissection presenting with paraplegia and ARF. This case emphasizes the importance of a careful examination of peripheral pulses in patients presenting with ARF and paraplegia.

  9. Unusual presentation of aortic dissection: Post-coital acute paraplegia with renal failure

    Directory of Open Access Journals (Sweden)

    Dinith P Galabada


    Full Text Available We report the case of a 45-year-old chronic smoker who presented with acute paraplegia occurring during coitus and subsequently developed acute renal failure (ARF requiring dialysis. He had absent peripheral pulses in the lower limbs with evidence of acute ischemia. Doppler study showed dissecting aneurysm of thoracic aorta, thrombotic occlusion of the distal aorta from L1 level up to bifurcation and occlusion of the right renal artery by a thrombus that was confirmed by magnetic resonance imaging of the spine. He was not subjected to any vascular intervention as his lower limbs were not salvageable due to delay in the diagnosis. Post-coital aortic dissection and aortic dissection presenting with acute paraplegia and ARF are very rare. This is probably the first case report with post-coital acute aortic dissection presenting with paraplegia and ARF. This case emphasizes the importance of a careful examination of peripheral pulses in patients presenting with ARF and paraplegia.

  10. Congenital optic tract hypoplasia. (United States)

    Hatsukawa, Yoshikazu; Fujio, Takahiro; Nishikawa, Masanori; Taylor, David


    We report a case of isolated unilateral optic tract hypoplasia, described only twice previously. Bilateral optic disk hypoplasia was seen ophthalmoscopically and visual field studies showed an incongruous right homonymous hemianopia. Magnetic resonance imaging showed bilateral hypoplasia of both optic nerves and the left optic tract. Spectral domain optical coherence tomography mapping correlated well with the visual field studies.

  11. 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. (United States)

    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


    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.

  12. New insights regarding the incidence, presentation and treatment options of aorto-oesophageal fistulation after thoracic endovascular aortic repair

    DEFF Research Database (Denmark)

    Czerny, Martin; Eggebrecht, Holger; Sodeck, Gottfried;


    To review the incidence, clinical presentation, definite management and 1-year outcome in patients with aorto-oesophageal fistulation (AOF) following thoracic endovascular aortic repair (TEVAR).......To review the incidence, clinical presentation, definite management and 1-year outcome in patients with aorto-oesophageal fistulation (AOF) following thoracic endovascular aortic repair (TEVAR)....

  13. Multi-drug-resistant hypertension caused by severe aortic coarctation presenting in late adulthood. (United States)

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


    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.

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

    Directory of Open Access Journals (Sweden)

    P. Dorfmüller


    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.

  15. Acquired post-traumatic aortic coarctation presenting as new-onset congestive heart failure: treatment with endovascular repair. (United States)

    Thompson, Norris B; Hamidian Jahromi, Alireza; Ballard, David H; Rao, Vyas R; Samra, Navdeep S


    Acquired coarctation of the thoracic aorta is a rare phenomenon in adults. The etiology is often idiopathic, but severe stenosis can develop from prior surgery, blunt thoracic aortic injuries, or severe atherosclerotic/atheroembolic disease. Common symptomatic presentations include refractory upper extremity hypertension and new-onset congestive heart failure. We present the case of a 52-year-old man who developed acquired thoracic aortic coarctation 30 years after a blunt trauma and deceleration injuries to the aorta requiring open surgical aortic repair. He presented with poorly controlled hypertension and new-onset heart failure and was treated surgically with endovascular repair.

  16. Chronic contained rupture of an abdominal aortic aneurysm presenting as a Grynfeltt lumbar hernia. A case report. (United States)

    Dobbeleir, J; Fourneau, I; Maleux, G; Daenens, K; Vandekerkhof, J; Nevelsteen, A


    We report a unique case of chronic contained thoraco-abdominal aneurysm rupture presenting as a Grynfeltt lumbar hernia. A 79-year-old man presented with backpain and a bluish swelling in the left lumbar region in the presence of a non tender aortic aneurysm. CT scan confirmed contained rupture of a type IV thoraco-abdominal aortic aneurysm. The peri-aortic haematoma protruded through the lumbar wall causing a Grynfeltt lumbar hernia. The aneurysm was replaced through a thoraco-phreno-lumbotomy. The patient survived and is doing well six months postoperatively.

  17. Ruptured abdominal aortic aneurysm masquerading as isolated hip pain: an unusual presentation. (United States)

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


    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.

  18. 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


    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.

  19. Unilateral Pulmonary Hypoplasia in a Child. (United States)

    Dewan, G


    Pulmonary hypoplasia is an uncommon congenital anomaly. A case reported in a six year old male child from Bangladesh who presented with chronic dry cough, episodic fever and occasional haemoptysis causing confusion with tuberculosis. X-ray suggested lung collapse. Final diagnosis reached by combined bronchoscopy, computed tomogram scan of chest and pulmonary angiogram. In a child with complete radiological lung collapse possibility of pulmonary hypoplasia should be kept in mind.

  20. Myelopathy in adult aortic coarctation: Causes and caveats of an atypical presentation

    Directory of Open Access Journals (Sweden)

    Chandan Mourya


    Full Text Available A 57-year-old female presenting with acute-onset paraplegia was referred for magnetic resonance imaging (MRI of cervico-dorsal spine. On MRI, multiple tortuous dilated vessels were noted in the epidural space with long segment cord compression and imaging features of compressive myelopathy. Associated small acute cervico-dorsal epidural hematoma was also noted in the same region. Computed tomography (CT angiography was performed subsequently which revealed post-ductal coarctation of aorta with multiple arterial collaterals in the chest wall and spinal canal. An extensive review of English language literature pertaining to the clinical presentations of adult aortic coarctation revealed only few reports of acute compressive myelopathy due to spinal epidural collateral vessels. Further, presentation at such a late age has not been reported before. In the present case, apart from a hypertrophied anterior spinal artery and perispinal collaterals, an anterior epidural hematoma was an additional important factor in the causation of myelopathy.

  1. Optic nerve hypoplasia

    Directory of Open Access Journals (Sweden)

    Savleen Kaur


    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.

  2. A case of amblyopia with contralateral optic nerve hypoplasia. (United States)

    Frantz, Kelly A; Pang, Yi


    We describe an unusual case of unilateral optic nerve hypoplasia (ONH) in a patient with contralateral anisometropic/strabismic amblyopia. A seven-year-old boy presented with visual acuities of 6/12 R and 6/18 L and eccentric fixation in the left eye. Cycloplegic retinoscopy was R +1.50/-0.50 × 180 and L +5.25 DS. Funduscopy revealed optic nerve hypoplasia of the right eye. The patient fixated with his better-seeing right eye, despite the optic nerve hypoplasia. His reduced vision may be attributed to optic nerve hypoplasia in the right eye and amblyopia in the left. Although optic nerve hypoplasia can occur with ipsilateral amblyopia, we believe this is the first reported case of unilateral optic nerve hypoplasia in the fellow eye of an amblyopic patient.

  3. Enamel Hypoplasia of Deciduous Canine


    加納, 隆; 平出, 百合子; 舟津, 聡; 峯村, 隆一; 恩田, 千爾; 正木, 岳馬


    From observation of frequency and measurement of the lengths and widths of enamel hypoplasia on the maxillary and mandibular deciduous canines, extracted from 50 Indians' skulls, the following results were obtained. 1) Enamel hypoplasia occurred in 15% of the maxillary deciduous canines and 44% of the mandibular deciduous canines. 2) Symmetrical cases of enamel hypoplasia occurred in 8.0% of the maxillary deciduous canins and in 34% of the mandibular deciduous canines. The enamel hypoplasia o...

  4. Isolated Hypoplasia of Left Pulmonary Artery with Agenesis of Left Lobe of Thyroid: A Case Report. (United States)

    Khadir, Mohammed Abdul; Narayana, Ganesh; Ramagopal, Ganavi; Nayar, Pradeep G


    Isolated Unilateral hypoplasia or agenesis of a branch of pulmonary artery is very rare. It is usually seen associated with congenital heart diseases such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia. It occurs as a result of lack of embryological development of either the left or right sixth aortic arch and has been found to present itself with various clinical manifestations as during childhood it presents as contralateral pulmonary hypertension and in adults as haemoptysis. Early diagnosis and early surgical indication avoids the evolution of pulmonary hypertension to unfavourble state of more severe and progressive degrees and also prevents the development of pulmonary systemic collateral circulation, which is mainly responsible for subsequent haemoptysis in the adulthood. We hereby, report the case of an infant who presented with features of lower respiratory tract infection and later diagnosed as isolated congenital hypoplasia of left pulmonary artery and hence planned for proper follow-up for early surgery thereby preventing complications in the future.

  5. Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi. (United States)

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


    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.

  6. 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)


    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.)

  7. Retalho de pericárdio pediculado vascularizado autógeno para aortoplastia e correção da coarctação simples de aorta torácica, ou associada à hipoplasia, atresia ou interrupção do arco aórtico Pediculated autologous vascularized pericardial flap aortoplasty for correction of simple aortic coarctation or associated with hypoplasia, atresia or interruption of aortic arch

    Directory of Open Access Journals (Sweden)

    Paulo Rodrigues da Silva


    . CONCLUSÃO: A técnica do emprego do retalho pericárdico pediculado, vascularizado e autógeno é a mais adequada e a mais completa em comparação com todas as outras técnicas cirúrgicas existentes para correção dos diferentes tipos de coarctação da aorta torácica, nas suas formas simples ou associadas a outras lesões aórticas. É indicada em todas as faixas etárias, inclusive em recém-natos.OBJECTIVE: Eighteen years ago, two young male patients of 8 months and 13 years with aortic coarctation associated to aortic hypoplasia between the left subclavian artery and the coarctated area, were submitted to surgical correction using a new world-pioneering surgical technique developed in our service. METHOD: This technique consists of sectioning the patent ductus arteriosus, followed by resection of all the coarctated tissue in the aortic wall and aortoplasty correction by means of the lengthwise implantation of a pediculated autogenous pericardial flap. This flap is inserted into the thoracic aorta, from the root of the left subclavian artery to 2.0 cm below the coarctated area. RESULTS: For both patients, the blood pressure and arterial pulses of both arms and legs have been normal since the surgery until the present moment. Clinical examination and Doppler evaluation evidenced no pressure gradient between arms and legs, normal blood flow and no pressure gradient through the coarctated area. Both patients were submitted to other evaluations 18 years after surgery, including cardiac and thoracic aortic catheterization followed by aortography. These evaluations demonstrated normal aortic configuration, with normal diameter, including the areas above and below the coarctated site. There was no evidence of any kind of degenerative lesions of the vascularized pericardial flap or re-coarctation of the lesion and no signs of aneurysms forming or the presence of atherosclerosis of the flap. Moreover, and very importantly, it was evident that the pediculated completely

  8. Chronic complete thrombosis of abdominal aortic aneurysm: an unusual presentation of an unusual complication. (United States)

    Pejkic, Sinisa; Opacic, Dragan; Mutavdzic, Perica; Radmili, Oliver; Krstic, Nevena; Davidovic, Lazar


    Although mural thrombosis frequently accompanies aneurysmal disease, complete thrombosis is distinctly unusual complication of abdominal aortic aneurysm (AAA). A case study of a patient with chronic, asymptomatic complete thrombosis of a large juxtarenal AAA is presented along with a literature review and discussion of the potential secondary complications, mandating aggressive management of this condition. A 67-year-old man with multiple atherogenic risk factors and unattended complaints consistent with a recent episode of a transient right hemispheric ischemic attack was referred to our clinic with a diagnosis of a thrombosed AAA established by computed tomography. Duplex ultrasonography and aortography confirmed the referral diagnosis and also revealed near occlusion of the left internal carotid artery. The patient underwent a two-stage surgery, with preliminary left-sided carotid endarterectomy followed three days later by an aneurysmectomy and aortobifemoral reconstruction. He had an uncomplicated recovery and was discharged home on postoperative day 7, remaining asymptomatic at the 42-month follow-up. Complete thrombosis is an uncommon presentation of AAA and may be clinically silent. It is frequently associated with other manifestations of generalized atherosclerosis. Radical open repair yields durable result and is the preferred treatment modality.

  9. Prevalence and possible etiology of dental enamel hypoplasia. (United States)

    El-Najjar, M Y; DeSanti, M V; Ozebek, L


    Two hundred black and white adult human skeletons and 200 living black and white children from the greater Cleveland area were examined for evidence of enamel hypoplasia. Enamel hypoplasia, present in varying expressings (pits, lines and grooves), was found to be more prevalent in both skeletal samples, than in the living groups. In the majority of cases, sex differences between white and black males and females through time and space are highly significant for all tooth catagories. Regardless of the mechanisms behind it, prevalence of enamel hypoplasia for both white and black group has significantly declined through time. No evidence suggesting specific etiologies responsible for enamel hypoplasia can be found. In the majority of previously published reports, the etiology is still idiopathic. The reduction in the prevalence of enamel hypoplasia in the groups examined through time may be related to improved nutritional conditions and the elimination or decline of childhood diseases that have been implicated in this condition.

  10. 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)


    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. Prenatal prediction of pulmonary hypoplasia. (United States)

    Triebwasser, Jourdan E; Treadwell, Marjorie C


    Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management. The objective of this review is to outline the imaging techniques that are widely used prenatally to assess pulmonary hypoplasia and to discuss the limitations of these methods.

  12. Focal dermal hypoplasia: A rare case report

    Directory of Open Access Journals (Sweden)

    Sahana M Srinivas


    Full Text Available Focal dermal hypoplasia (Goltz syndrome is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome.

  13. Genetics Home Reference: focal dermal hypoplasia (United States)

    ... Home Health Conditions focal dermal hypoplasia focal dermal hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Focal dermal hypoplasia is a genetic disorder that primarily affects the ...

  14. Genetics Home Reference: lissencephaly with cerebellar hypoplasia (United States)

    ... Conditions lissencephaly with cerebellar hypoplasia lissencephaly with cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain ...

  15. Genetics Home Reference: Leydig cell hypoplasia (United States)

    ... Home Health Conditions Leydig cell hypoplasia Leydig cell hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Leydig cell hypoplasia is a condition that affects male sexual development. ...

  16. Genetics Home Reference: cartilage-hair hypoplasia (United States)

    ... Home Health Conditions cartilage-hair hypoplasia cartilage-hair hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Cartilage-hair hypoplasia is a disorder of bone growth characterized by ...

  17. Battle of the Bulge: Aortic Aneurysm Management From Early Modernity to the Present. (United States)

    Barr, Justin


    For centuries, physicians have recognized aortic aneurysms as an acute threat to life. Therapeutic approaches to the disease began in the 18th century when leading physicians, such as René Laennec and Antonio Valsalva, applied research on circulation and blood coagulation to devise whole-body fasting and bleeding regimens to prevent rupture. After John Hunter's success in ligating arteries to treat peripheral aneurysms, surgeons attempted analogous operations on the aorta, but even the renowned Sir Astley Cooper and William Halsted met with disastrous results. Other clinicians tried various methods of creating intraluminal clots, including the application of such new technologies as electricity and plastic. Vessel repair techniques, pioneered by Alexis Carrel and others in the 20th century, eventually provided a reliably effective treatment. In the past few decades, minimally invasive methods that approach aneurysms endovascularly through small groin incisions have been adopted. A successful 2005 congressional campaign to fund screening for aortic aneurysms brought the disease to national attention and symbolizes current confidence in curing it. Drawing on various published and unpublished sources, this paper elucidates the development of specific treatments for aortic aneurysms over time and more broadly addresses how medicine and surgery apply the knowledge and technology available in particular eras to treat a specific, identifiable, and lethal disease. Examining the evolution of these therapeutic efforts unveils broader trends in the history of medicine. This allows aortic aneurysms to serve as a case study for exploring shifting philosophies in medical history.

  18. Tooth enamel hypoplasia in PHACE syndrome. (United States)

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


    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.

  19. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. (United States)

    Aykut, A; Cogulu, O; Ekmekci, A Y; Ozkinay, F


    Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, micropolygyria, hypoplasia of pons, hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. Here we present a 10-month-old female infant with clinical and radiological findings indicative of acrocallosal syndrome. She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, optic atrophy and polydactyly. MRI revealed cerebral atrophy, corpus callosum agenesis, dilated lateral ventricules and unilateral right temporal lobe hypoplasia, the latter not previously reported in the spectrum of this syndrome. Based on this observation we conclude the importance of screening brain abnormalities and present temporal lobe hypoplasia as a new additional anomaly in this syndrome.

  20. A rare but potentially lethal case of tuberculous aortic aneurysm presenting with repeated attacks of abdominal pain. (United States)

    Hung, Yao-Min; Chang, Yun-Te; Wang, Jyh-Seng; Wang, Paul Yung-Pou; Wann, Shue-Ren


    Tuberculous aortic aneurysm is an extremely rare disease with a high mortality rate. The clinical features of this condition are highly variable, ranging from asymptomatic with or without constitutional symptoms, abdominal pain to frank rupture, bleeding and shock. We herein report the case of a 56-year-old man with a large tuberculous mycotic aneurysm in the abdominal aorta with an initial presentation of repeated attacks of abdominal pain lasting for several months. Due to the vague nature of the initial symptoms, tuberculous aortic aneurysms may take several months to diagnose. This case highlights the importance of having a high index of suspicion and providing timely surgery for this rare but potentially lethal disease.

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

    Directory of Open Access Journals (Sweden)

    Nasim Jafari-Pozve


    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.

  2. Focal dermal hypoplasia presenting as incontinentia pigmenti: a case report%皮损形态类似于色素失调症的局灶性真皮发育不全

    Institute of Scientific and Technical Information of China (English)

    马东来; 胡瑾; 方凯


    A case of focal dermal hypoplasia presenting as incontinentia pigmenti is reported.A 30-year-old woman presented with hyperpigmentation, hypopigmentation and atrophy macules all over the body since birth.The lesions follow Blaschko' s lines.She also had syndactylies of the third and fourth toes of the right foot since birth.Biopsy specimens showed dermal hypoplasia, attenuation of the dermis, and upward extension of the fat tissue.Verhoeff and acid orcein-Giemsa stains showed a remarkable diminution of fine elastic fibers from the papillary to upper reticular dermis.whereas those of the mid dermis were intact.Differential diagnosis must be made with incontinentia pigmenti.%报告1 例皮损形态类似于色素失调症的局灶性真皮发育不全.患者女,30 岁.因全身条纹状和不规则形的色素斑近30 年就诊.皮损沿Blaschko 线分布,主要由色素沉着斑、色素减退斑和萎缩斑等组成.此外,患者还有右足第3 和第4 趾的并趾畸形.组织病理检查:真皮发育不良,明显变薄,皮下脂肪组织上移.弹性纤维染色显示真皮上层的弹性纤维明显减少,而真皮中、下层的弹性纤维却基本正常.临床上主要需与色素失调症鉴别.

  3. Supravalvular aortic stenosis in adult with anomalies of aortic arch vessels and aortic regurgitation (United States)

    Valente, Acrisio Sales; Alencar, Polyanna; Santos, Alana Neiva; Lobo, Roberto Augusto de Mesquita; de Mesquita, Fernando Antônio; Guimarães, Aloyra Guedis


    The supravalvular aortic stenosis is a rare congenital heart defect being very uncommon in adults. We present a case of supravalvular aortic stenosis in adult associated with anomalies of the aortic arch vessels and aortic regurgitation, which was submitted to aortic valve replacement and arterioplasty of the ascending aorta with a good postoperative course. PMID:24598962

  4. Endovascular therapy for overcoming challenges presented with blunt abdominal aortic injury. (United States)

    Gilani, Ramyar; Saucedo-Crespo, Hector; Scott, Bradford G; Tsai, Peter I; Wall, Metthew J; Mattox, Kenneth L


    Blunt abdominal aortic injury (BAAI) is a rare and lethal injury requiring surgical management. Injury patterns can be complex and surgical strategy should accommodate specific case circumstances. Endovascular solutions appear appropriate and preferred in certain cases of BAAI, which, however, may not be applicable due to device limitations in regard to patient anatomy and limited operating room capability. However, endovascular therapy can be pursued with limited fluoroscopy capability and consumable availability providing a solution that is expeditious and effective for select cases of BAAI.

  5. Review of numerical methods for simulation of the aortic root: Present and future directions (United States)

    Mohammadi, Hossein; Cartier, Raymond; Mongrain, Rosaire


    Heart valvular disease is still one of the main causes of mortality and morbidity in develop countries. Numerical modeling has gained considerable attention in studying hemodynamic conditions associated with valve abnormalities. Simulating the large displacement of the valve in the course of the cardiac cycle needs a well-suited numerical method to capture the natural biomechanical phenomena which happens in the valve. The paper aims to review the principal progress of the numerical approaches for studying the hemodynamic of the aortic valve. In addition, the future directions of the current approaches as well as their potential clinical applications are discussed.

  6. On the classification of congenital thumb hypoplasia. (United States)

    Tonkin, M A


    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.

  7. Congenital Unilateral Hypoplasia of Depressor Anguli Oris

    Directory of Open Access Journals (Sweden)

    Seckin O. Ulualp


    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.

  8. Pseudoaneurysm of the mitral–aortic intervalvular fibrosa presenting after chest trauma and diagnosed by cardiac magnetic resonance: a case report

    Directory of Open Access Journals (Sweden)

    Barranhas Adriana


    Full Text Available Abstract Introduction Annular subvalvular pseudoaneurysm is a rare example of left ventricle aneurysm described predominantly in young African people. These aneurysms are divided into two different types, namely, submitral or subaortic, with subaortic being the less frequent kind. The subaortic type is most often localized in the mitral–aortic intervalvular fibrosa. To the best of our knowledge, this is the first report of a mitral–aortic intervalvular fibrosa pseudoaneurysm associated with coarctation of the aorta, anomalous pulmonary venous return, bicuspid aortic valve and patent ductus arteriosus diagnosed by cardiovascular magnetic resonance. Case presentation We report the case of a 15-year-old African-American boy with a history of mild chest trauma who underwent echocardiographic evaluation as part of an out-patient work up. The echocardiogram was suspicious for the presence of mitral-aortic intervalvular fibrosa pseudoaneurysm and cardiovascular magnetic resonance was then performed to better characterize this finding. In addition to confirming the presence of the aneurysm, cardiovascular magnetic resonance also revealed coarctation of the aorta, a bicuspid aortic valve, and anomalous pulmonary venous return. Conclusion In our case, cardiovascular magnetic resonance was helpful in: (a making a definite diagnosis of mitral–aortic intervalvular fibrosa pseudoaneurysm and its borders, which was not clear with an echocardiogram examination; and (b illustrating additional associated congenital anomalies including the anomalous pulmonary venous return.

  9. Aortic insufficiency (United States)

    ... page, please enable JavaScript. Aortic insufficiency is a heart valve disease in which the aortic valve does not close ... aortic insufficiency Images Aortic insufficiency References Carabello BA. Valvular heart disease. In: Goldman L, Schafer AI, eds. Goldman's Cecil ...

  10. Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia. (United States)

    Fink, Cassandra; Borchert, Mark; Simon, Carrie Zaslow; Saper, Clifford


    This report describes gelastic seizures in patients with optic nerve hypoplasia and hypothalamic dysfunction without hypothalamic hamartoma. All participants (n = 4) from the optic nerve hypoplasia registry study at Children's Hospital Los Angeles presenting with gelastic seizures were included. The clinical and pathology characteristics include hypothalamic dysgenesis and dysfunction, but no hamartomas. Optic nerve hypoplasia is the only reported condition with gelastic seizures without hypothalamic hamartomas, suggesting that hypothalamic disorganization alone can cause gelastic seizures.

  11. [A 2-month-old child with complex tracheal hypoplasia]. (United States)

    De Cloedt, L; Papadopoulos, J; Corouge, P; Khalil, T; Van Laer, P


    We describe the case of a 2-month-old child with complex tracheal hypoplasia with bilateral bronchial hypoplasia and left pulmonary hypoplasia. Tracheal hypoplasia is complex when it is associated with critical stenosis, cricoid stenosis, bronchial hypoplasia, tracheal bronchus, or esophageal atresia with severe tracheomalacia. Slide tracheoplasty is the gold standard treatment for the complex tracheal hypoplasia.

  12. Breast hypoplasia and breastfeeding: a case history. (United States)

    Thorley, Virginia


    Hypoplasia, or glandular insufficiency, of the breasts is an infrequent cause of breastfeeding failure or infant failure to thrive. Early evaluation of the breasts of early identification of infant indicators can enable mothers to breastfeed while providing appropriate supplementation to facilitate satisfactory hydration and growth. A case report is presented of a highly motivated mother with minimal breast tissue who was able to soothe four of her infants at her breasts, supplying some breastmilk, while providing the bulk of their nutritional requirements by other means. At the time of writing she is tandem breastfeeding as well as providing artificial milk by bottle.

  13. Aortic Annular Enlargement during Aortic Valve Replacement

    Directory of Open Access Journals (Sweden)

    Selman Dumani


    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.

  14. Severe diffuse hypoplasia of the aorta associated with multiple vascular abnormalities. (United States)

    Grebeldinger, Slobodan P; Balj, Svetlana S; Adic, Oto


    Hypoplasia of the thoracic and abdominal aorta is an extremely rare vascular pathology. The most common clinical manifestation is severe uncontrolled hypertension in adolescents and young adults. Medical treatment alone can decrease blood pressure, but often very high doses of antihypertensive drugs are needed. When hypertension is refractory to the antihypertensive medications, surgical revascularization is considered as the treatment of choice. We report the case of a severe and diffuse hypoplasia of the aorta, beginning with the aortic isthmus, to the aortic bifurcation, associated with an aberrant celiac trunk and superior mesenteric artery, and with other multiple vascular abnormalities. Unlikely, the only manifestation of this extensive vascular malformation was medicamentously controllable hypertension. To our knowledge, this severe vascular anomaly, with such a minimal clinical manifestation, has not been previously described in the English literature.

  15. Aortic dissection (United States)

    ... linked to aortic dissection include: Bicuspid aortic valve Coarctation (narrowing) of the aorta Connective tissue disorders (such ... failure Aneurysm Aortic insufficiency Blood clots Cardiac tamponade Coarctation of the aorta Hardening of the arteries High ...

  16. Association of pulmonary artery agenesis and hypoplasia of the lung. (United States)

    Vitiello, Renato; Pisanti, Chiara; Pisanti, Antonello; Silberbach, Michael


    Pulmonary artery agenesis and hypoplasia of the homolateral lung occasionally occurs as an isolated lesion, but more often has associated congenital cardiac anomalies. We present a case where pulmonary artery agenesis was the sole lesion in an asymptomatic child. Pulmonary artery agenesis should be suspected in asymptomatic patients if a plain chest X-ray shows asymmetric lung fields, lung hypoplasia, or hyperinflation of the contralateral lung. Echocardiography is the best tool to establish the diagnosis. In our opinion, invasive procedures, such as cardiac catheterization, may be postponed if there is no echocardiographic evidence of pulmonary hypertension.

  17. Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts. (United States)

    Abumansour, Iman S; Wrogemann, Jens; Chudley, Albert E; Chodirker, Bernard N; Salman, Michael S


    Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor (VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.

  18. Genetics Home Reference: VLDLR-associated cerebellar hypoplasia (United States)

    ... Conditions VLDLR-associated cerebellar hypoplasia VLDLR-associated cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description VLDLR -associated cerebellar hypoplasia is an inherited condition that affects the development ...

  19. Genetics Home Reference: X-linked adrenal hypoplasia congenita (United States)

    ... X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita Enable Javascript to view the expand/collapse ... Open All Close All Description X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. ...

  20. Pontocerebellar hypoplasia type 2 : a neuropathological update

    NARCIS (Netherlands)

    Barth, Peter G.; Aronica, Eleonora; de Vries, Linda; Nikkels, Peter G. J.; Scheper, Wiep; Hoozemans, Jeroen J.; Poll-The, Bwe-Tien; Troost, Dirk


    Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at death ranging between 1 and 22 years. Three patients were distantly related. A case of olivopontocerebellar hypoplasia (OPCH; MIM 225753) was st

  1. Systemic and ocular findings in 100 patients with optic nerve hypoplasia. (United States)

    Garcia, M Lourdes; Ty, Edna B; Taban, Mehryar; David Rothner, A; Rogers, Douglas; Traboulsi, Elias I


    To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies were obtained in 65 cases. Visual acuity and associated ocular, neurologic, endocrine, systemic, and structural brain abnormalities were recorded. Seventy-five percent had bilateral optic nerve hypoplasia. Conditions previously associated with optic nerve hypoplasia and present in our patients include premature birth in 21%, fetal alcohol syndrome in 9%, maternal diabetes in 6%, and endocrine abnormalities in 6%. Developmental delay was present in 32%, cerebral palsy in 13%, and seizures in 12%. Of those imaged, 60% had an abnormal study. Neuroimaging showed abnormalities in ventricles or white- or gray-matter development in 29 patients, septo-optic dysplasia in 10, hydrocephalus in 10, and corpus callosum abnormalities in 8. There was an associated clinical neurologic abnormality in 57% of patients with bilateral optic nerve hypoplasia and in 32% of patients with unilateral optic nerve hypoplasia. Patients with unilateral and bilateral optic nerve hypoplasia frequently have a wide range and common occurrence of concomitant neurologic, endocrine, and systemic abnormalities.

  2. 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


    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.

  3. [Hypoplasia adrenal congenita of anencephalic type: two cases with pituitary abnormalities and review of literature]. (United States)

    Folligan, K; Roume, J; Razavi, F; Sepaniak, S; Bouvier, R; Morel, Y; Trouillas, J


    Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found.

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

    Energy Technology Data Exchange (ETDEWEB)

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


    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.

  5. Unilateral Optic Nerve Hypoplasia with Contralateral Optic Pathway Hypoplasia: A Case Report. (United States)

    Nishi, Tomo; Yukawa, Eiichi; Taoka, Toshiaki; Ogata, Nahoko


    Optic nerve hypoplasia is diagnosed by the ophthalmoscopic appearance of the fundus of the eye and by standard magnetic resonance imaging of the brain. The ability to study eyes with optic nerve hypoplasia by magnetic resonance diffusion tensor imaging has improved the evaluation of the optic pathways. The authors report a case of unilateral optic nerve hypoplasia with hypoplasia of the contralateral optic pathway. The entire visual pathway of this patient was examined by magnetic resonance and magnetic resonance diffusion tensor imaging. The images show a decrease of the volume of the optic radiation contralateral to the optic nerve abnormality and also pre- and post-chiasmal abnormalities.

  6. Condylar Aplasia and Hypoplasia: A Rare Case

    Directory of Open Access Journals (Sweden)

    Peeyush Shivhare


    Full Text Available Aplasia of condyle is very rare, when this condition not seen as a part of a syndrome. We report a case of condylar aplasia on the right side and hypoplasia on the left side in a 21-year-old female. The patient reported to the department with a chief complaint of underdeveloped lower jaw. Clinical examination, conventional radiographs, and 3D CBCT images revealed complete absence of condyle on the right side and hypoplasia on the left side.

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

    Directory of Open Access Journals (Sweden)

    Shailesh Solanki


    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.

  8. Transfemoral transcatheter aortic valve implantation in a patient with a severe aortic stenosis and cardiogenic shock requiring intra-aortic balloon pump support. (United States)

    Chodór, Piotr; Wilczek, Krzysztof; Przybylski, Roman; Świątkowski, Andrzej; Głowacki, Jan; Kalarus, Zbigniew; Zembala, Marian


    The following paper presents a patient with severe aortic stenosis and severely reduced left ventricular ejection fraction with intra-aortic balloon pump counterpulsation support, who underwent transfemoral aortic valve implantation of a CoreValve prosthesis.

  9. Transfemoral transcatheter aortic valve implantation in a patient with a severe aortic stenosis and cardiogenic shock requiring intra-aortic balloon pump support


    Chodór, Piotr; Wilczek, Krzysztof; Przybylski, Roman; Świątkowski, Andrzej; Głowacki, Jan; Kalarus, Zbigniew; Zembala, Marian


    The following paper presents a patient with severe aortic stenosis and severely reduced left ventricular ejection fraction with intra-aortic balloon pump counterpulsation support, who underwent transfemoral aortic valve implantation of a CoreValve prosthesis.

  10. Hypoplasia of the parotid gland: computed tomography sialography diagnosis. (United States)

    Sun, Lisha; Sun, Zhipeng; Ma, Xuchen


    We report two unusual cases of non-syndromic hypoplasia of the parotid gland. The hypoplastic parotid gland mimicked a preauricular parotid tumor in one case and presented as an incidental image finding in the other case. Absence of the deep lobe and isthmus of the parotid parenchyma could be determined on axial computed tomography (CT) by revealing fat tissue composition of the parotid space. The underdeveloped superficial lobe of the gland was observed on three-dimensional CT sialography.

  11. Aesthetic approach for anterior teeth with enamel hypoplasia

    Directory of Open Access Journals (Sweden)

    Josué Martos


    Full Text Available Enamel hypoplasia is a developmental defect of the enamel that is produced by a disturbance in the formation of the organic enamel matrix, clinically visible as enamel defects. Disorders that occur during the stages of enamel development and maturation reduce the amount or thickness of the enamel, resulting in white spots, tiny grooves, depressions and fissures in the enamel surface. The complexity and intensity of the dental deformity lesions will conduct the ideal treatment-associating conservative techniques. This article presents a case report of a restorative treatment of enamel hypoplasia using hybrid composite resin to mask color alteration and enamel defects. An aesthetic appearance that respects the tooth polychromatic and the self-esteem of the patient can be achieved with this approach.

  12. Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue. (United States)

    del Carmen Boente, María; Asial, Raúl A; Winik, Beatriz C


    We followed over 10 years three girls with focal dermal hypoplasia syndrome. The histopathological changes demonstrated at the optical level an hypoplastic dermis with thin and scarce collagen bundles and a marked diminution of elastic fibers. Mature adipose tissue was found scattered within the papillary and reticular dermis. No alterations in the basal membrane were observed by immunocytochemical or ultrastructural techniques. Ultrastructurally, in the skin-affected areas, loosely arranged collagen bundles composed of few fibrils were seen scattered in the extracellular matrix. Scarce elastic fibers of normal morphology were also observed. Fibroblasts were smaller, oval-shaped, and diminished in number with a poorly developed cytoplasm. In these fibroblasts, the most conspicuous feature was a remarkable and irregular thickening of the nuclear fibrous lamina. Taking into account that a common link between all laminopaties may be a failure of stem cells to regenerate mesenchymal tissue, this failure would induce the dermal hypoplasia observed in our patients presenting Goltz syndrome.

  13. [Pollicization of the Index Finger in Patients with Congenital Thumb Hypoplasia]. (United States)

    Moser, U; Singer, G; Schmidt, B; Spendel, S


    Congenital thumb hypoplasia is a radial deficiency occurring in the form of sole dysplasia or in combination with additional aberrations. Thumb hypoplasia can be categorised into 5 grades ranging from mild deformity to complete absence of the thumb. Thumb hypoplasia leads to a disturbance of grip function depending on its severity. The choice of treatment is based on the degree of thumb hypoplasia. For hypoplasia greater than grade 3B, restoration of the thumb using pollicization of the index finger is the treatment of choice. For this purpose the index finger is transformed into a thumb and is transposed to the position of the thumb with vessels and nerves being retained. The skeleton has to be shortened, rotated and abducted, followed by reconstruction of the muscles in line with the function of the new thumb. This procedure facilitates a restoration with maximal stability, sensitivity and mobility. In cases of isolated thumb hypoplasia, pollicization of the index finger yields good results persisting into adulthood. If associated aberrations are present, the outcome is less predictable because of the preexistent stiffness of the index finger. Nevertheless, associated aberrations do not represent a contraindication for index finger pollicization.

  14. Frequency and Distribution of Enamel Hypoplasia in Ancient Skulls from Different Eras and Areas in Greece

    Directory of Open Access Journals (Sweden)

    Vasiliki Ζafiri


    Full Text Available This study presents an anthropological analysis of enamel hypoplasias form from 309 skulls fromarchaeological excavations in various geographical areas of the Hellenic landscape belonging todifferent chronological periods. The sample comprises a total of 1386 permanent teeth of differentmorphological types were recognized and graded as to the feature of enamel hypoplasia The examineof the enamel hypoplasia is based on macroscopic observation. The diagram used for the evaluation ofthis feature was the one proposed by Brothwell in 1971. The frequency of enamel hypoplasia in thedentition of ancient skulls from Greece is relatively restricted. Of the total of 1386 teeth examined, 323teeth of the upper jaw displayed the characteristic linear hypoplasia which corresponds to 23.2 % of allcases. In particular, in the skull series we examined the greatest disruption of enamel formation wasfound on the canines of the upper jaw, while it also exists, albeit at a declining frequency, in the firstmolars, the second molars, followed by the lateral incisors and central incisors as well as the thirdmolars. In the first molars, the frequency of hypoplasia is consistently high in the teeth of these skullsfrom all three periods examined (antiquity, the middle ages and the new age.

  15. Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

    Directory of Open Access Journals (Sweden)

    Stefan Gysin


    Full Text Available Focal dermal hypoplasia (FDH is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, oral and dental defects. The skin and dental alterations manifest along the Blaschko lines. We present a woman (born in 1962 suffering from FDH with congenital skin changes and Blaschko linear enamel defects. Typical symptoms (e.g. fat herniations, scoliosis, syndactyly, microphthalmia, caries and alopecia plus vertical grooving of all teeth gave a first indication. Molecular genetic testing confirmed the definitive diagnosis of FDH. We hypothesize that, in the context of typical skin changes, visible Blaschko lines on the teeth in the form of vertical grooves are almost pathognomonic for FDH.

  16. Neuropathologic features of pontocerebellar hypoplasia type 6. (United States)

    Joseph, Jeffrey T; Innes, A Micheil; Smith, Amanda C; Vanstone, Megan R; Schwartzentruber, Jeremy A; Bulman, Dennis E; Majewski, Jacek; Daza, Ray A; Hevner, Robert F; Michaud, Jean; Boycott, Kym M


    Pontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and function of the brainstem and cerebellum. The rarity and genetic heterogeneity of this group of disorders can make molecular diagnosis challenging. We report 3 siblings who were born to nonconsanguineous parents, were hypotonic at birth, developed seizures, had repeated apneic spells, and died within 2 months of life. Neuroimaging showed that all had profound cerebellar hypoplasia and simplified cortical gyration. Genetic analysis by whole-exome sequencing demonstrated compound heterozygous mutations in the mitochondrial arginyl transfer RNA synthetase gene RARS2, indicating that the children had pontocerebellar hypoplasia type 6. Autopsies on the younger twin siblings revealed small and immature cerebella at an approximate developmental age of less than 18 weeks. The basis pontis showed regressive changes, and the medulla had marked inferior olivary hypoplasia. The brains of both twins were microencephalic and had simplified gyri; cortices were immature, and deep white matter had extensive astrocytosis. The findings suggest a near-normal embryologic period followed by midgestation developmental slowing or cessation and later regression in select anatomic regions. This is the first detailed description of neuropathologic findings associated with pontocerebellar hypoplasia type 6 and demonstrates the profound effects of RARS2 disruption during early neurodevelopment.

  17. Clinical characteristics of high grade foveal hypoplasia. (United States)

    Park, Kyung-Ah; Oh, Sei Yeul


    To report clinical characteristics of high grade foveal hypoplasia. Patients with foveal hypoplasia of grade 3 or 4 on spectral domain optical coherence tomography according to a previously published scheme were enrolled. All patients underwent a full ophthalmologic assessment including visual acuity testing, slit lamp biomicroscopy, fundus examination, and evaluation of ocular alignment. The underlying causes of foveal hypoplasia were identified as albinism in five patients and aniridia in six patients. The mean logMAR visual acuity was 0.57 ± 0.24 (range 0.22-1.00) in the right eyes and 0.58 ± 0.21 (range 0.30-1.00) in the left eyes. On fundus examination in patients with albinism, two patients showed marked transparency, one patient showed moderate transparency, and two patients showed minimal transparency. Among six patients with aniridia, five patients showed normal macular pigmentation without macular reflex and one patient showed decreased macular pigmentation with no macular reflex. Patients with high grade macular hypoplasia tended to have poor visual acuities; however, the range of visual acuity was quite variable. Other factors associated with underlying disease could be the reason of this variability. Therefore, careful consideration should be given when assessing visual prognosis in foveal hypoplasia using optical coherence tomography.

  18. Novel PORCN mutations in focal dermal hypoplasia. (United States)

    Froyen, G; Govaerts, K; Van Esch, H; Verbeeck, J; Tuomi, M-L; Heikkilä, H; Torniainen, S; Devriendt, K; Fryns, J-P; Marynen, P; Järvelä, I; Ala-Mello, S


    Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder characterized primarily by involvement of the skin, skeletal system and eyes. We screened for mutations in the PORCN gene in eight patients of Belgian and Finnish origin with firm clinical suspicion of FDH. First, we performed quantitative PCR (qPCR) analysis to define the copy number at this locus. Next, we sequenced the coding regions and flanking intronic sequences of the PORCN gene. Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c.992T>G (p.L331R) in exon 11 and c.1094G>A (p.R365Q) in exon 13 of the gene. Both point mutations changed highly conserved amino acids and were not found in 300 control X chromosomes. The three patients in whom mutations were identified all present with characteristic dermal findings together with limb manifestations, which were not seen in our mutation-negative patients. The clinical characteristics of our patients with PORCN mutations were compared with the previously reported mutation-positive cases. In this report, we summarize the literature on PORCN mutations and associated phenotypes.

  19. Hypoplasia of exocrine pancreas with myocardial necrosis

    Institute of Scientific and Technical Information of China (English)

    Xiang Sheng Zhang; Xin Xiu Xu; Yan Zhang; Sbu Hua Wu


    AIM To study the clinical and pathological features of hypoplasia of exocrine pancreas with myocardialnecrosis.METHODS One ease of hypoplasia of exocrine pancreas with myocardial necrosis was autopsied. Theclinical signs and pathological changes were analyzed.RESULTS A 15-month-old boy with hypoplasia of exocrine pancreas was reported. The main clinicalfeatures were steatorrhea and marked underdevelopment. He died of acute heart failure afterhospitalization. Autopsy showed that there were aplasia of exocrine portion and fatty metaplasia ofpancreas, the myocardium revealed focal necrosis and sear formation.CONCLUSION Atrophy of exocrine pancreas and myocardial necrosis exist at the same time, suggestingthat there may be some relationship between them. It was likely that the damaged pancreatic tissue releasedsome active materials that may harm the myocardium or decrease pancreatic juice that results in lack ofnutrient and myocardial necrosis.

  20. [New aspects in aortic valve disease]. (United States)

    Tornos, P


    Renewed interest for aortic valve disease has evolved in recent years. Aortic valve replacement has become the second most frequent cause of cardiac surgery, following coronary bypass surgery. In addition, the etiologic and physiopathologic knowledge of this disorder has improved. In the present paper we analyze three aspects of the disease which are, at present, the subject of study and controversy: first, we discuss the possible relationship between degenerative aortic stenosis and atherosclerosis; second, the involvement of the aortic root in cases of bicuspid aortic valve; and third, the surgical indications in asymptomatic patients with either aortic stenosis or regurgitation.

  1. 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; Sival, Deborah


    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, ve

  2. Management of bicuspid aortic valve with or without involvement of ascending aorta and aortic root. (United States)

    Neragi-Miandoab, S


    Patients with a bicuspid aortic valve (BAV) constitute a heterogeneous population with variable clinical presentation and complications. More than 50% of the patients who require aortic valve replacement have a BAV, a condition that may be associated with dilation of ascending aorta and aortic insufficiency caused by cusp disease or aortic root pathology. Of the potential BAV-related complications, dilation of the aortic root and ascending aorta are among the most serious. The dilation of ascending aorta and aortic root have been the subject of controversy. Whereas some surgeons believe that the dilation of the aorta is caused by the hemodynamic properties of the BAV, others believe that the dilation of the aortic root is secondary to genetic defects associated with the BAV. Management of a BAV should be tailored to each patient's clinical condition. The surgical approach varies from aortic valve replacement to combined aortic valve and root replacement to aortic-valve-sparing root replacement.

  3. [Inflammatory abdominal aortic aneurysm]. (United States)

    Ziaja, K; Sedlak, L; Urbanek, T; Kostyra, J; Ludyga, T


    The reported incidence of inflammatory abdominal aortic aneurysm (IAAA) is from 2% to 14% of patients with abdominal aortic aneurysm and the etiology of this disease is still discussed--according to the literature several pathogenic theories have been proposed. From 1992 to 1997 32 patients with IAAA were operated on. The patients were mostly symptomatic--abdominal pain was present in 68.75% cases, back pain in 31.25%, fever in 12.5% and weight loss in 6.25% of the operated patients. In all the patients ultrasound examination was performed, in 4 patients CT and in 3 cases urography. All the patients were operated on and characteristic signs of inflammatory abdominal aortic aneurysm like: thickened aortic wall, perianeurysmal infiltration or retroperitoneal fibrosis with involvement of retroperitoneal structures were found. In all cases surgery was performed using transperitoneal approach; in three cases intraoperatively contiguous abdominal organs were injured, which was connected with their involvement into periaortic inflammation. In 4 cases clamping of the aorta was done at the level of the diaphragmatic hiatus. 3 patients (9.37%) died (one patient with ruptured abdominal aortic aneurysm). Authors present diagnostic procedures and the differences in the surgical tactic, emphasizing the necessity of the surgical therapy in patients with inflammatory abdominal aortic aneurysm.


    NARCIS (Netherlands)



    The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, severely impaired mental and motor development, and extrapyramidal dyskinesia is a distinct system degeneration, previously designated pontocerebellar hypoplasia type 2 (PCH-2). To further characterize its clinical and neu

  5. Arterial Stiffness Alterations and Inflammatory Response Following Endovascular Aortic Repair: Based on a Presentation at the 2013 VEITH Symposium, November 19-23, 2013 (New York, NY, USA). (United States)

    Moulakakis, Konstantinos G; Mylonas, Spyridon N; Kakisis, John; Kadoglou, Nikolaos P E; Papadakis, Ioannis; Sfyroeras, George S; Antonopoulos, Constantine C N; Mantas, George; Ikonomidis, Ignatios; Liapis, Christos D


    Endovascular abdominal aortic aneurysm repair (EVAR) and thoracic aortic aneurysm repair (TEVAR) have been widely incorporated into clinical practice. However, changes in arterial stiffness and post-implantation syndrome after aortic endografting remain important issues under investigation. The aneurysm sac wall motion after successful EVAR and TEVAR reflects complex interactions between all the components of the excluded aneurysm, including true compliance of the aneurysm wall itself, intra-aneurysm sac pressure, remodeling of the thrombus, and mechanical characteristics of the endograft. Experimental and clinical studies have shown that aortic endografting results in increased arterial stiffness in animal models. It can be assumed that the alterations of aortic mechanical properties can have a direct impact on heart output. The long-term impact of these mechanical changes on cardiovascular outcomes and the potential effects of different endografts on hemodynamics are important issues under investigation. Post-implantation syndrome (PIS) is a systemic inflammatory response frequently observed after endovascular treatment of aortic pathologies. The main features of PIS include fever, leukocytosis, elevated C-reactive protein levels, and coagulation disturbances. Endograft design appears to influence this inflammatory response following aortic endografting; woven polyester endografts have been shown to be associated with greater inflammatory response compared to PTFE stent grafts. The purpose of this paper is to review the literature to elucidate arterial stiffness alterations and inflammatory response after EVAR and TEVAR and the impact of endograft design on aortic stiffness and the post-inflammatory response.

  6. Aortic stenosis (United States)

    ... Images Aortic stenosis Heart valves References Carabello BA. Valvular heart disease. In: Goldman L, Schafer AI, eds. Goldman's Cecil ... ACC guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/ ...

  7. Abdominal Aortic Aneurysm (AAA) (United States)

    ... News Physician Resources Professions Site Index A-Z Abdominal Aortic Aneurysm (AAA) Abdominal aortic aneurysm (AAA) occurs when atherosclerosis ... an abdominal aortic aneurysm treated? What is an abdominal aortic aneurysm? The aorta, the largest artery in the body, ...

  8. Radiologic findings of the flexor pollicis longus hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Alicioglu, Banu [Trakya University Medical School, Department of Radiologyy, Edirne (Turkey)


    A case of a 10-year-old boy with hypoplasia of the flexor pollicis longus and without other associated anomalies and trauma history is reported. Flexor pollicis longus tendon anomalies are rare; several types of this congenital anomaly have been reported in the literature. The diagnosis should be considered to the conditions of a patient who was unable to flex the interphalangeal joint of the thumb. Hypoplastic thumb or absent interphalangeal joint crease may be a diagnostic feature in such cases. We preoperatively present the radiological findings of this rare congenital anomaly. Ultrasound and magnetic resonance imaging (MRI) features have never been reported in the literature. (orig.)

  9. Bilateral coronoid hypoplasia and complex odontoma: a rare concurrence of developmental pathology and odontogenic tumour of the mandible. (United States)

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


    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.

  10. Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report. (United States)

    Yasui, Yoshitomo; Kohno, Miyuki; Nishida, Syouichi; Shironomae, Tsubasa; Satomi, Miwa; Kuwahara, Tsuyoshi; Takahashi, Sadayoshi; Niida, Yo


    Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA-processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.-14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage-hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered.

  11. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism (United States)

    Thavarajah, Harshithaa


    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. PMID:28251002

  12. Enamel hypoplasia: challenges of esthetic restorative treatment. (United States)

    Ruschel, Vanessa Carla; Araújo, Élito; Bernardon, Jussara Karina; Lopes, Guilherme Carpena


    Enamel defects, such as white or yellow-brown spots, usually cause problems that are more esthetic than functional. Enamel hypoplasia may be the result of hereditary, systemic, or local factors. Dental trauma is a local etiologic factor. It is relatively common in the primary dentition and can cause defects on the surface of permanent successors. Treatment for such defects can differ, depending on the depth of the spots. For deeper white-spot lesions, a composite resin restoration may be necessary. This is an excellent mode of treatment, due to both its low cost and its conservation of healthy tooth structure. The objective of this case report is to describe composite resin restoration of a maxillary central incisor affected by enamel hypoplasia.

  13. [Oligomeganephronic renal hypoplasia complicated by glomerulonephritis]. (United States)

    Kan'shina, N F; Rykov, V A; Lakhno, P A


    Clinico-anatomical data of a rare condition congenital oligomeganephronic renal hypoplasia with a glomerulonephritis as a complication are available for a 13-year-old girl who died of chronic renal failure. Large aglomerular zones consisting of primitive canaliculi in a loose stroma were observed in kidneys that were decreased in size. The glomeruli were few in number, some of them of a large size (2-2.5-fold), firmly attached to the capsule, with pronounced extracapillary proliferation.

  14. Basilar invagination secondary to hypoplasia of the clivus - Is there indication for craniocervical fixation?

    Directory of Open Access Journals (Sweden)

    Andrei Fernandes Joaquim


    Full Text Available The posterior fossa decompression is a form of treatment suggested for patients with basilar invagination (BI secondary to hypoplasia symptomatic of the clivus and atlantoaxial alignment preserved. Based on the fact that the worsening of cranial-cervical kyphosis (decrease of clivus-canal angle to less than 150o can result in anterior brainstem compression, we propose that some patients may benefit from the cranio-cervical fixation. We present a case report of a patient with BI secondary to clivus hypoplasia who underwent cranio-cervical fixation in extension, with a reduction in clivus-canal angle and improvement of symptoms without posterior fossa decompression.

  15. Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia. (United States)

    Reddin, Gemma; Poterucha, Joseph T; Dearani, Joseph A; Warnes, Carole A; Cetta, Frank


    Cone reconstruction for tricuspid valve repair has revolutionized the surgical treatment of Ebstein anomaly. We present the case of a 58-year-old woman with atypical Ebstein anomaly and right ventricular apical hypoplasia who was spared from palliative shunt physiology by our use of cone reconstruction. Compared with other techniques, cone reconstruction of the tricuspid valve more closely replicates normal valvular anatomy and function. This surgical procedure can be applied to many anatomic variations of Ebstein anomaly, as in our patient's apparently unique instance of atypical Ebstein anomaly with right ventricular apical hypoplasia.

  16. A rare cause of cervical spinal stenosis: posterior arch hypoplasia in a bipartite atlas

    Energy Technology Data Exchange (ETDEWEB)

    Atasoy, C. [Emek, Kirim Caddesi, Ankara (Turkey); Department of Radiology, Ankara University School of Medicine (Turkey); Fitoz, S.; Karan, B.; Erden, I.; Akyar, S. [Department of Radiology, Ankara University School of Medicine (Turkey)


    We describe CT and MRI of a previously unreported combination of atlantoaxial anomalies consisting of posterior arch hypoplasia in a bipartite atlas with an os odontoideum, in a 30-year-old woman presenting with neck and left arm pain. MRI showed the os odontoideum, marked stenosis of the spinal canal at the level of the atlas, with cord compression and evidence of myelopathy. CT revealed a bipartite atlas with midline clefts in anterior and posterior arches, thickening in the anterior arch and hypoplasia of the posterior arch with incurving of both hemiarches. Flexion and extension radiographs demonstrated atlantoaxial instability. (orig.)

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

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb


    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

  18. Oral phenotype and variation in focal dermal hypoplasia. (United States)

    Wright, John Timothy; Puranik, Chaitanya P; Farrington, Frank


    Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene. This gene encodes an endoplasmic reticulum transmembrane protein that is involved in processing the embryonically critical WNT signaling proteins. Individuals diagnosed with FDH were recruited to participate in the study through the National Foundation for Ectodermal Dysplasia. Individuals were evaluated to characterize the FDH phenotype. Each participant completed a brief dental survey and oral evaluation using artificial light. To identify the oral soft and hard tissue findings 19 individuals (16 female and 3 male) participated with a median age of 10 years (range 2-56 years). Soft and hard tissue defects were present in 68% (13) and 94% (18) of the patients, respectively. Dental anomalies were highly prevalent with 68% (13) demonstrating vertical enamel grooving, 52% (10) having peg shaped tooth deformities, and 78% (15) having enamel hypoplasia with or without discoloration. Cleft lip and cleft palate presented in 15% (3) of the participants. Other findings included 57% (11) having intra-oral lipoma or papilloma with no site predilection. Dental malocclusions were common with 63% (12) having some degree of malocclusion with 15% (3) of participants having class III malocclusion with an anterior dental cross bite. Participants frequently reported speech problems or difficulty with chewing (73%; N = 14). This study shows there is marked variation in the oral phenotype of individuals with FDH and underscores the important role of WNT signaling in oro-facial development.

  19. Bilateral implantation in children with cochleovestibular nerve hypoplasia. (United States)

    Oker, N; Loundon, N; Marlin, S; Rouillon, I; Leboulanger, N; Garabédian, E N


    To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive assessment showed no perceptive or linguistic evolution at 6 months follow-up. In cochleovestibular nerve hypoplasia, bilateral implantation could be discussed in cases of limited result after unilateral implant.

  20. Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia

    Directory of Open Access Journals (Sweden)

    Malvika Gupta


    Full Text Available A 5-year-old girl presented with bilateral familial vertical  Duane retraction syndrome with alternating esotropia, elevation deficit, Marcus gunn phenomenon, and facial hypoplasia. Abnormal adducting downshoots on attempting abduction suggestive of a synergistic convergence were noted. Hypothesis suggests aberrant innervations or peripheral anatomic connections between inferior and medial recti.

  1. Transcatheter aortic valve replacement for bicuspid aortic stenosis 13years post heart transplant. (United States)

    Julien, Maureen B; Desai, Nimesh; Brozena, Susan; Herrmann, Howard C


    Despite the widespread use of transcatheter aortic valve replacement (TAVR) for moderate and high-risk patients with severe aortic stenosis, it is utilized less frequently in patients with bicuspid aortic valves (BAV). Orthotopic heart transplant (OHT) donors tend to be younger and may have undiagnosed BAV. We present a case of successful TAVR in a patient with BAV thirteen years after OHT.

  2. [Surgical technique of aortic valve replacement for small aortic annulus in elderly patients]. (United States)

    Hata, T; Fujiwara, K; Furukawa, H; Tsushima, Y; Yoshitaka, H; Kuinose, M; Minami, H; Ishida, A; Tamura, K; Totsugawa, T; Kanemitsu, H; Ozawa, M


    Recent reports have shown that aortic valve replacement in elderly patients over 65 years with atherosclerotic aortic stenosis and a small aortic annulus is possible by using a small sized bioprosthesis (Carpentier-Edwards pericardial valve). Here we present out surgical technique. Firstly, the native calcified aortic valve was removed completely to gain total exposure of the surrounding aortic root and sinus of Valsalva like Bentall procedure. Secondly, a small sized bioprosthesis was implanted with intermittent noneverting mattress 2-0 sutures with spaghetti and small polytetrafluoroethylene (PTFE) felt. Aortic annulus is the dilated by inserting Hegar dilator sizing from 25 to 27 mm. Therefore, aortic valve replacement for small aortic annulus in intra- or supra-annular position should be easily accomplished. Good surgical results and hemodynamic state were achieved in 25 consecutive cases using this technique.

  3. Aortic Root Enlargement or Sutureless Valve Implantation?

    Directory of Open Access Journals (Sweden)

    Nikolaos G. Baikoussis


    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.

  4. Bone marrow hypoplasia associated with fenbendazole administration in a dog. (United States)

    Gary, Anthony T; Kerl, Marie E; Wiedmeyer, Charles E; Turnquist, Susan E; Cohn, Leah A


    A 1.5-year-old Doberman pinscher was presented with sudden-onset of fever and malaise. Twelve days prior to presentation, fenbendazole therapy was initiated for a suspected lungworm infection. Results of a complete blood count on presentation showed pancytopenia, while histopathological evaluation of a bone marrow core sample revealed bone marrow hypoplasia of undetermined etiology. Bactericidal antibiotics and fluid therapy, as well as discontinuation of fenbendazole administration, led to a complete resolution of clinical and hematological abnormalities within 15 days. An idiosyncratic reaction to fenbendazole was suspected based on the absence of infectious, neoplastic, autoimmune, and toxic etiologies, as well as resolution of clinical signs and pancytopenia upon drug withdrawal.

  5. Spectral domain optical coherence tomography and microperimetry in foveal hypoplasia

    Directory of Open Access Journals (Sweden)

    Swakshyar Saumya Pal


    Full Text Available A case of foveal hypoplasia associated with ocular albinism with anatomic and functional changes by various techniques using spectral domain optical coherence tomography (SD-OCT, microperimeter and confocal scanning laser ophthalmoscope is described. This case highlights the importance of microperimeter in detecting the functional abnormalities of vision and SD-OCT in identifying the retinal laminar abnormalities in foveal hypoplasia.

  6. Esophageal Atresia and Tracheoesophageal Fistula with Unilateral Pulmonary Agenesis - Hypoplasia

    Directory of Open Access Journals (Sweden)

    Shraddha Verma


    Full Text Available Association of unilateral severe pulmonary hypoplasia or agenesis and esophageal atresia (EA with or without tracheoesophageal fistula (TEF is an exceedingly rare and highly lethal combination. We report a case of full term male baby who had EA with TEF and right lung hypoplasia, managed at our centre. He is alive and doing well at 10 years of age.

  7. Esophageal Atresia and Tracheoesophageal Fistula with Unilateral Pulmonary Agenesis - Hypoplasia

    Directory of Open Access Journals (Sweden)

    Katragadda Laxmi Narsimha Rao


    Full Text Available Association of unilateral severe pulmonary hypoplasia or agenesis and esophageal atresia (EA with or without tracheoesophageal fistula (TEF is an exceedingly rare and highly lethal combination. We report a case of full term male baby who had EA with TEF and right lung hypoplasia, managed at our centre. He is alive and doing well at 10 years of age.

  8. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

    NARCIS (Netherlands)

    Namavar, Y.; Barth, P.G.; Poll-The, B.T.; Baas, F.


    Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7). The incidence of each subtype is unknown. All subtypes share common characteristics, including hypoplasia/atr

  9. Spectrum of PORCN mutations in Focal Dermal Hypoplasia (United States)

    Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome (OMIM 305600), is a genetic disorder that affects multiple organ systems early in development. Features of FDH include skin abnormalities, (hypoplasia, atrophy, linear pigmentation, and herniation of fat through dermal defects); papillomas...

  10. Bicuspid Aortic Valve (United States)


    aortic valvular disease, endocarditis, ascending aortic aneurysm and aortic dissection.1-4 There is also an association of BAV with coarctation of...for aortic aneurysm , patients with BAV appear to have additional risks for aortic disease. Nistri et al.12 reported significant aortic root...Congenital heart disease in patients with Turner’s syndrome. Italian study group for Turner syndrome (ISGTS). J Pediatr 1998; 133:688-692. 7. Schmid

  11. Aortic Stenosis. (United States)

    Bakaeen, Faisal G; Rosengart, Todd K; Carabello, Blase A


    This issue provides a clinical overview of aortic stenosis, focusing on screening, diagnosis, treatment, and practice improvement. The content of In the Clinic is drawn from the clinical information and education resources of the American College of Physicians (ACP), including MKSAP (Medical Knowledge and Self-Assessment Program). Annals of Internal Medicine editors develop In the Clinic in collaboration with the ACP's Medical Education and Publishing divisions and with the assistance of additional science writers and physician writers.

  12. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. (United States)

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


    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.

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

    Directory of Open Access Journals (Sweden)

    Kátia Maria Dmytraczenko Franco


    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.

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

    Directory of Open Access Journals (Sweden)

    Akshai Shetty


    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.

  15. 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: [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)


    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)

  16. Aortic valve bypass

    DEFF Research Database (Denmark)

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


    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...

  17. Aortic annuloplasty with aortic root reconstruction to prevent patient-prosthesis mismatch. (United States)

    Hopkins, Richard A


    Part of the ongoing argument concerning patient-prosthesis mismatch (PPM) following aortic valve replacement (AVR) is due to the perception that aortic annulus enlargement procedures increase the risk and technical difficulty of aortic valve surgery. Here, an aortic root reconstruction that involves enlargement of the annulus and tailoring of the aortic root to accommodate larger stented prostheses is presented that has been personally performed in 196 patients with no technique-related surgical deaths or complications, and thus can be carried out without additional risk. This aortic root enlargement aortoplasty and annuloplasty method can be calibrated to all AVRs involving stented manufactured prostheses when these are deemed the prosthesis of choice for the patient with a relatively small annulus and/or aortic root, severe left ventricular hypertrophy, compromised LV function or a very active lifestyle, to achieve predicted EOA values > or = 1.00 cm2/m2.

  18. Brain stem hypoplasia associated with Cri-du-Chat syndrome. (United States)

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


    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.

  19. 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)


    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.

  20. Aortic events in a nationwide Marfan syndrome cohort

    DEFF Research Database (Denmark)

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


    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. Ruptured abdominal aortic aneurysm. (United States)

    Sachs, T; Schermerhorn, M


    Ruptured abdominal aortic aneurysm (AAA) continues to be one of the most lethal vascular pathologies we encounter. Its management demands prompt and efficient evaluation and repair. Open repair has traditionally been the mainstay of treatment. However, the introduction of endovascular techniques has altered the treatment algorithm for ruptured AAA in most major medical centers. We present recent literature and techniques for ruptured AAA and its surgical management.

  2. Failure to demonstrate Chlamydia pneumoniae in symptomatic abdominal aortic aneurysms by a nested polymerase chain reaction (PCR)

    DEFF Research Database (Denmark)

    Lindholt, Jes Sanddal; Ostergård, L; Henneberg, E W;


    To investigate whether Chlamydia pneumoniae is present in symptomatic abdominal aortic aneurysms (AAA).......To investigate whether Chlamydia pneumoniae is present in symptomatic abdominal aortic aneurysms (AAA)....

  3. Incidental moderate mitral regurgitation in patients undergoing aortic valve replacement for aortic stenosis: review of guidelines and current evidence. (United States)

    Ramakrishna, Harish; Kohl, Benjamin A; Jassar, Arminder S; Augoustides, John G T


    Recent evidence has shown that moderate mitral regurgitation is common and clinically relevant in patients presenting for surgical and transcatheter aortic valve replacement for aortic stenosis. Prospective multicenter clinical trials are now indicated to resolve the clinical equipoise about whether or not mitral valve intervention also is indicated at the time of aortic valve intervention. Advances in three-dimensional transesophageal echocardiography, transcatheter mitral interventions, and surgical aortic valve replacement, including the advent of sutureless valves, likely will expand the therapeutic possibilities for moderate mitral regurgitation in the setting of aortic valve interventions for severe aortic stenosis.

  4. A rare case of type 1 diabetes mellitus with pituitary hypoplasia. (United States)

    Pinto, Jostol; Sudeep, K; Venkatesha, B M


    Growth failure and pubertal abnormalities are not uncommon in chronic uncontrolled metabolic diseases like diabetes mellitus. We present a young girl with uncontrolled type 1 diabetes mellitus, who presented with short stature and primary amenorrhea, and on evaluation was found to have anterior pituitary hypoplasia. In addition to uncontrolled diabetes mellitus, she presented with early onset growth failure and lack of spontaneous secondary sexual characteristics. She had central hypothyroidism and inappropriately normal gonadotropin levels. However her serum cortisol levels were normal. MRI of the sellar-suprasellar region revealed a small anterior pituitary gland with thinning of the pituitary stalk consistent with pituitary hypoplasia. While uncontrolled type 1 diabetes itself may cause growth retardation and pubertal abnormalities, this girl had coexisting pituitary maldevelopment - a rare co-existence of two major illnesses of unrelated etiologies. The partial pituitary hormonal deficiency, which spared the hypothalamo-pituitary-adrenal axis, may be due to a transcription factor defect.

  5. Bicuspid Aortic Valve Disease and Ascending Aortic Aneurysms: Gaps in Knowledge

    Directory of Open Access Journals (Sweden)

    Katie L. Losenno


    Full Text Available The bicuspid aortic valve is the most common congenital cardiac anomaly in developed nations. The abnormal bicuspid morphology of the aortic valve results in valvular dysfunction and subsequent hemodynamic derangements. However, the clinical presentation of bicuspid aortic valve disease remains quite heterogeneous with patients presenting from infancy to late adulthood with variable degrees of valvular stenosis and insufficiency and associated abnormalities including aortic coarctation, hypoplastic left heart structures, and ascending aortic dilatation. Emerging evidence suggests that the heterogeneous presentation of bicuspid aortic valve phenotypes may be a more complex matter related to congenital, genetic, and/or connective tissue abnormalities. Optimal management of patients with BAV disease and associated ascending aortic aneurysms often requires a thoughtful approach, carefully assessing various risk factors of the aortic valve and the aorta and discerning individual indications for ongoing surveillance, medical management, and operative intervention. We review current concepts of anatomic classification, pathophysiology, natural history, and clinical management of bicuspid aortic valve disease with associated ascending aortic aneurysms.

  6. Enamel hypoplasia in the middle pleistocene hominids from Atapuerca (Spain). (United States)

    Bermúdez de Castro, J M; Pérez, P J


    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.

  7. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. (United States)

    Kastrissianakis, Katherina; Anand, Geetha; Quaghebeur, Gerardine; Price, Sue; Prabhakar, Prab; Marinova, Jasmina; Brown, Garry; McShane, Tony


    Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corresponding radiological findings observed in the original cases. We report two siblings with the RARS2 mutation who displayed typical clinical features of PCH6, but who had distinct neuroimaging features. Early scans showed marked supratentorial, rather than infratentorial, atrophy, and the pons remained preserved throughout. One sibling also had bilateral subdural effusions at presentation. The deceleration in head growth pointed to an evolving genetic/metabolic process giving rise to cerebral atrophy and secondary subdural effusions. RARS2 mutations should be considered in infants presenting with seizures, subdural effusions, decelerating head growth and evidence of cerebral atrophy even in the absence of pontocerebellar hypoplasia on imaging.

  8. Cutting balloon angioplasty for in-stent restenosis of the aortic coarctation in a young boy presenting with systemic hypertension of the upper extremities. (United States)

    Lee, Meng-Luen


    An 8.25-year-old boy was incidentally found to have systemic hypertension of the upper extremities. Blood pressures of the upper extremities were 142-150/86-98 mmHg, and those of the lower extremities 110-116/60-66 mmHg. Doppler echocardiography showed in-stent restenosis of the aortic coarctation. Traditional high-pressure balloon angioplasty failed to dilate this inveterate in-stent restenosis. Instead, a cutting balloon angioplasty was performed. The lumen was dilated from 4.80 mm to 7.89 mm. The pressure gradient dropped from 32 mmHg to 9 mmHg. Blood pressures of the upper extremities were 112-116/76-78 mmHg, and those of the lower extremities 100-104/70-72 mmHg. This paper highlights that a cutting balloon angioplasty can serve as a juste milieu to relieve in-stent restenosis of the aortic coarctation when traditional high-pressure balloon angioplasty is debatable.

  9. [Phenotype analysis and the molecular mechanism of enamel hypoplasia]. (United States)

    Lv, Ping; Gao, Xue-jun


    Enamel hypoplasia is a surface defect of the tooth crown caused by a disturbance of enamel matrix secretion. Enamel hypoplasia may be inherited, or result from illness, malnutrition, trauma, or high concentrations of fluorides or strontium in the drinking water or food. Different types of enamel hypoplasia have been distinguished, such as pit-type, plane-type, and linear enamel hypoplasia. Hypoplasia has been related to the intensity and duration of stress events, the number of affected ameloblasts, and their position along the forming tooth crown. Amelogenesis imperfecta (AI) is a heterogeneous group of inherited defects in dental enamel formation, most teeth are affected in both the primary and permanent dentition. The malformed enamel can be unusually thin, soft, rough and stained. The strict definition of AI includes only those cases where enamel defects occur in the absence of other symptoms. Currently, there are seven candidate genes for AI: amelogenin, enamelin, ameloblastin, tuftelin, distal-less homeobox 3, enamelysin, and kallikrein 4. Since the enamel is formed according to a strict chronological sequence, and once formed, undergoes no repair or regeneration. Then the analysis the phenotype of enamel hypoplasia can provide insights of the severity of inherited or environmental stress and the molecular mechanism during the period of enamel formation.

  10. Mammary hypoplasia: not every breast can produce sufficient milk. (United States)

    Arbour, Megan W; Kessler, Julia Lange


    Breast milk is considered the optimal form of nutrition for newborn infants. Current recommendations are to breastfeed for 6 months. Not all women are able to breastfeed. Mammary hypoplasia is a primary cause of failed lactogenesis II, whereby the mother is unable to produce an adequate milk volume. Women with mammary hypoplasia often have normal hormone levels and innervation but lack sufficient glandular tissue to produce an adequate milk supply to sustain their infant. The etiology of this rare condition is unclear, although there are theories that refer to genetic predisposition and estrogenic environmental exposures in select agricultural environments. Women with mammary hypoplasia may not exhibit the typical breast changes associated with pregnancy and may fail to lactate postpartum. Breasts of women with mammary hypoplasia may be widely spaced (1.5 inches or greater), asymmetric, or tuberous in nature. Awareness of the history and clinical signs of mammary hypoplasia during the prenatal period and immediate postpartum increases the likelihood that women will receive the needed education and physical and emotional support and encouragement. Several medications and herbs demonstrate some efficacy in increasing breast milk production in women with mammary hypoplasia.

  11. Infrarenal Aortic Occlusion (United States)

    Traverso, L. W.; Baker, J. D.; Dainko, E. A.; Machleder, H. I.


    Twenty-eight patients with total occlusion of the infrarenal aorta have been seen at the UCLA Hospitals in the past 11 years. Claudication was the presenting complaint in all but one patient, with one-third having ischemic rest pain. The average age of these patients was 54 years, and their histories revealed a surprising absence of myocardial infarction, stroke, or diabetes, although 40% had essential hypertension. Heavy tobacco use, however, was characteristic of the entire group. Arteriography proved valuable in identifying and characterizing the vascular abnormalities, but posed problems in technique and interpretation. Significant distal arterial disease was detected radiographically in only 21% of these patients. Operative correction of the aortic occlusion was performed on 26 patients, 18 by aortic bypass grafts and eight by aorto-iliac endarterectomy, with one early postoperative death. Although the thrombus extended to the renal artery origins in 77% of the cases, a well-designed technical approach did not require renal artery occlusion. Using serial creatinine determinations, one case of renal insufficiency was detected which was associated with prolonged postoperative hypotension. Although the extent of distal disease was more severe in those who underwent bypass, symptoms of claudication returned earlier and were more prominent in the endarterectomy group. This recurrence of systems was not favorably altered by sympathectomy performed concomitantly with the initial procedure. Even though this condition seems to pose difficult technical obstacles and has a poor prognosis, infrarenal aortic occlusion can be successfully treated by aortic bypass, with favorable long-term results, if particular attention is paid to elements of the preoperative evaluation and the intraoperative technical requirements peculiar to this relatively uncommon disease entity. ImagesFig. 1.Fig. 2.Fig. 3. PMID:646479

  12. Congenital Horner Syndrome with Heterochromia Iridis Associated with Ipsilateral Internal Carotid Artery Hypoplasia


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


    Background: Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis. Case Report: 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). Conclusions: CT evaluation of the skull base is essential to establish this diagn...

  13. Basilar invagination secondary to hypoplasia of the clivus - Is there indication for craniocervical fixation?



    The posterior fossa decompression is a form of treatment suggested for patients with basilar invagination (BI) secondary to hypoplasia symptomatic of the clivus and atlantoaxial alignment preserved. Based on the fact that the worsening of cranial-cervical kyphosis (decrease of clivus-canal angle to less than 150o) can result in anterior brainstem compression, we propose that some patients may benefit from the cranio-cervical fixation. We present a case report of a patient with BI secondary to...

  14. Relationship of A1 segment hypoplasia to anterior communicating artery aneurysm morphology and risk factors for aneurysm formation. (United States)

    Rinaldo, Lorenzo; McCutcheon, Brandon A; Murphy, Meghan E; Bydon, Mohamad; Rabinstein, Alejandro A; Lanzino, Giuseppe


    OBJECTIVE Hypoplasia of the A1 segment of the anterior cerebral artery is frequently observed in patients with anterior communicating artery (ACoA) aneurysms. The effect of this anatomical variant on ACoA aneurysm morphology is not well understood. METHODS Digital subtraction angiography images were reviewed for 204 patients presenting to the authors' institution with either a ruptured or an unruptured ACoA aneurysm. The ratio of the width of the larger A1 segment to the smaller A1 segment was calculated. Patients with an A1 ratio greater than 2 were categorized as having A1 segment hypoplasia. The relationship of A1 segment hypoplasia to both patient and aneurysm characteristics was then assessed. RESULTS Of 204 patients that presented with an ACoA aneurysm, 34 (16.7%) were found to have a hypoplastic A1. Patients with A1 segment hypoplasia were less likely to have a history of smoking (44.1% vs 62.9%, p = 0.0410). ACoA aneurysms occurring in the setting of a hypoplastic A1 were also found to have a larger maximum diameter (mean 7.7 vs 6.0 mm, p = 0.0084). When considered as a continuous variable, increasing A1 ratio was associated with decreasing aneurysm dome-to-neck ratio (p = 0.0289). There was no significant difference in the prevalence of A1 segment hypoplasia between ruptured and unruptured aneurysms (18.9% vs 10.7%; p = 0.1605). CONCLUSIONS Our results suggest that a hypoplastic A1 may affect the morphology of ACoA aneurysms. In addition, the relative lack of traditional risk factors for aneurysm formation in patients with A1 segment hypoplasia argues for the importance of hemodynamic factors in the formation of ACoA aneurysms in this anatomical setting.

  15. Transcatheter Aortic Valve Implantation: Insights into Clinical Complications

    NARCIS (Netherlands)

    R.M.A. van der Boon (Robert)


    markdownabstract__Abstract__ Transcatheter Aortic Valve Implantation (TAVI) has emerged as a viable and safe treatment for patients with severe aortic stenosis (AS) who are considered ineligible or at prohibitive risk for Surgical Aortic Valve Replacement (SAVR)1–4. The aim of the present thesis wa

  16. Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex. (United States)

    Genuardi, M; Gasparini, P; Neri, G; Zelante, L


    The limb-pelvis hypoplasia/aplasia (LPHA) syndrome is a rare condition of skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora, sometimes associated with extraskeletal defects. Most reported patients are from the Middle East, and autosomal recessive inheritance was clearly demonstrated on the basis of multiple occurrences of affected sibs born to consanguineous matings. Here we report on a baby girl presenting with the phenotypic characteristics of LPHA. This is second observation of LPHA from Italy, and the fourth outside the Middle East. A paternal first cousin once removed had unilateral fibular hypoplasia and absence of the the 4th and 5th digital rays. The possible link between these cases is discussed in the light of the developmental field theory.

  17. Nonsyndromic hemimandibular hypoplasia: A case report with a short review of the literature

    Directory of Open Access Journals (Sweden)

    Sourav Bhattacharya


    Full Text Available Mandibular hypoplasia (MH is a condition, which characterizes deviation in the mandibular growth patterns causing functional and esthetic alterations. MHs encountered in the craniofacial region may be of three types: Congenital, developmental and acquired. Majority of the MHs are associated with syndromes with very little emphasis on the "nonsyndromic" category. Furthermore, the hypoplasias generally have a bilateral manifestation on the mandible. We focus on the nonsyndromic category and report a case of isolated unilateral MH in a 17-year-old boy with obvious facial disfigurement but with no association to any syndrome. The objective of this presentation is to highlight the rarity, possible manifestations and diagnostic approach of the nonsyndromic group.

  18. A neonate with left pulmonary artery thrombosis and left lung hypoplasia: a case report

    Directory of Open Access Journals (Sweden)

    ElHassan Nahed O


    Full Text Available Abstract Introduction Spontaneous intrauterine arterial thrombosis and congenital pulmonary hypoplasia are rare conditions and have not been reported to occur together. The literature rather includes two reports of babies with neonatal pulmonary artery occlusion and post-infarction cysts of the lungs. Case presentation We report a case of a live Caucasian male newborn with left lung hypoplasia that occurred in association with left pulmonary artery thrombosis. Despite a critical neonatal course, including extracorporeal membrane oxygenation, this infant is alive and well at 18 months of age without any neurodevelopmental sequelae or reactive airway disease. Conclusion This association suggests the possibility of an intrauterine vascular event between the fifth and eighth weeks of gestation during early pulmonary artery and lung development.

  19. Aortic aneurysm repair - endovascular (United States)

    EVAR; Endovascular aneurysm repair - aorta; AAA repair - endovascular; Repair - aortic aneurysm - endovascular ... Endovascular aortic repair is done because your aneurysm is very large, growing quickly, or is leaking or bleeding. You may have ...

  20. Abdominal aortic aneurysm (United States)

    ... this page: // Abdominal aortic aneurysm To use the sharing features on this page, ... blood to the abdomen, pelvis, and legs. An abdominal aortic aneurysm occurs when an area of the aorta becomes ...

  1. Aortic growth rates in chronic aortic dissection

    Energy Technology Data Exchange (ETDEWEB)

    Kelly, A.M. [Department of Radiology, Division of Thoracic Radiology, University of Michigan Medical Center (United States)]. E-mail:; Quint, L.E. [Department of Radiology, Division of Thoracic Radiology, University of Michigan Medical Center (United States); Nan, B. [School of Public Health, University of Michigan, Ann Arbor, Michigan (United States); Zheng, J. [School of Public Health, University of Michigan, Ann Arbor, Michigan (United States); Cronin, P. [Department of Radiology, Division of Thoracic Radiology, University of Michigan Medical Center (United States); Deeb, G.M. [Division of Cardiac Surgery, University of Michigan Medical Center (United States); Williams, D.M. [Division of Vascular Interventional Imaging, University of Michigan Medical Center (United States)


    Aim: To determine and compare rates of descending aortic enlargement and complications in chronic aortic dissection with and without a proximal aortic graft. Methods and materials: Fifty-two patients with dissection involving the descending aorta and who had undergone at least two computed tomography (CT) examinations at our institution between November, 1993 and February, 2004 were identified, including 24 non-operated patients (four type A, 20 type B) and 28 operated patients (type A). CT examinations per patient ranged from two to 10, and follow-up ranged from 1-123 months (mean 49 months, median 38.5 months). On each CT image, the aortic short axis (SA), false lumen (FL), and true lumen (TL) diameters were measured at the longitudinal midpoint of the dissection and at the point of maximum aortic diameter. Complications were tabulated, including aortic rupture and aortic enlargement requiring surgery. Results: For non-operated patients, the midpoint and maximum point SA, TL, and FL diameters increased significantly over time. For operated patients, the midpoint and maximum point SA and FL diameters increased significantly over time. In both groups, aortic enlargement was predominantly due to FL expansion. Diameter increases in non-operated patients were significantly larger than those in operated patients. The rate of change in aortic diameter was constant, regardless of aortic size. Four non-operated and six operated patients developed aortic complications. Conclusions: In patients with a dissection involving the descending thoracic aorta, the FL increased in diameter over time, at a constant rate, and to a greater degree in non-operated patients (mostly type B) compared with operated patients (all type A)

  2. Hybrid treatment of recurring thoracoabdominal aortic aneurysm concomitant with retrograde type A aortic dissection

    Institute of Scientific and Technical Information of China (English)

    ZHANG Min-hong; GUO Wei; DU Xin; XIONG Jiang


    So far, standard therapy of complex thoracoabdominal aortic disease is open surgical repair requiring aortic clamping and replacement of the involved segment.Despite significant improvements, morbidity and mortality of open surgery remain high.I As a result, open surgery is often withheld owing to severe comorbidities of the patients. Endovascular technique has emerged as an alternative for treatment of these diseases in high risk patients,2 and has enlarged the options of treatment of complex aortic diseases. However, an endovascular approach alone is often deemed unsuitable for some complex aortic disorders because of the close proximity of the supraaortic or visceral branches. A hybrid open-endovascular approach has therefore been proposed as a viable alternative. We present here a unique patient with recurring thoracoabdominal aortic aneurysm (TAAA) concomitant with an aortic dissection (AD) treated by a hybrid open-endovascular approach.

  3. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. (United States)

    Thomas, Shery; Thomas, Mervyn G; Andrews, Caroline; Chan, Wai-Man; Proudlock, Frank A; McLean, Rebecca J; Pradeep, Archana; Engle, Elizabeth C; Gottlob, Irene


    Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. A mutation analysis of the entire coding region and splice junctions of the PAX6 gene revealed a novel heterozygous missense mutation (c.227C>G) that segregated with the phenotype and is predicted to result in the amino-acid substitution of proline by arginine at codon 76 p.(P76R). The amino-acid variation p.(P76R) within the paired box domain is likely to destabilise the protein due to steric hindrance as a result of the introduction of a polar and larger amino acid. Eye movement recordings showed a significant intrafamilial variability of horizontal, vertical and torsional nystagmus. High-resolution in vivo imaging of the retina using optical coherence tomography (OCT) revealed features of foveal hypoplasia, including rudimentary foveal pit, incursion of inner retinal layers, short photoreceptor outer segments and optic nerve hypoplasia. Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. Moreover, it is the first study showing detailed characteristics using eye movement recordings of autosomal-dominant nystagmus in a multigenerational family with a novel PAX6 mutation.

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

    Directory of Open Access Journals (Sweden)

    Masuda N


    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

  5. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. (United States)

    Bostwick, Bret; Fang, Ping; Patel, Ankita; Sutton, V Reid


    Focal dermal hypoplasia, or Goltz syndrome, is a highly variable X-linked dominant disorder with abnormalities in ectoderm and mesoderm derived tissues. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular malformations. We aimed to refine the understanding of the phenotypic spectrum and natural history of this disorder and now present multi-disciplinary clinical description and medical history review for 18 patients with focal dermal hypoplasia. All disease characteristics were analyzed and compiled in aggregate to aid in development of clinical diagnostic criteria. Medical history data unexpectedly revealed that the majority of patients (87%) had undergone tonsillectomy for obstructive sleep apnea, which exposed an important co-morbidity that is not well described in the literature, but managing physicians should be made aware of. Fifteen of the 18 patients underwent molecular sequencing of PORCN to detect heterozygous or mosaic mutations. Where no mutation was detected, we performed exon-targeted chromosomal microarray to evaluate for large deletions of the PORCN gene region. We detected a pathogenic genotype in 14 of 15 patients, including one novel chromosomal deletion and four novel PORCN sequence variants. Here, we provide phenotypic summary analysis of 18 patients with focal dermal hypoplasia and propose clinical diagnostic criteria.

  6. Increased enamel hypoplasia and very low birthweight infants. (United States)

    Nelson, S; Albert, J M; Geng, C; Curtan, S; Lang, K; Miadich, S; Heima, M; Malik, A; Ferretti, G; Eggertsson, H; Slayton, R L; Milgrom, P


    Birth cohort studies of developmental defects of enamel (DDE) and early childhood caries (ECC) in very low birthweight (VLBW) and normal birthweight (NBW) infants are rare. In this birth cohort of 234 VLBW and 234 NBW infants, we report the incidence of ECC and DDE at 8 and 18-20 mos of corrected age. Infant medical and maternal socio-demographic data were abstracted from medical records at birth. Dental assessments for ECC and DDE (enamel hypoplasia, demarcated and diffuse opacities) were completed at 8 and 18-20 mos. The incidence of hypoplasia was significantly higher in VLBW compared with NBW infants (8 mos, 19% vs. 2%; 18 mos, 31% vs. 8%). The incidence of ECC (International Caries Detection and Assessment System: ICDAS ≥ 2) was 1.4% (8 mos) and 12% (18-20 mos) and was similar between the VLBW and NBW groups. At both ages, using a beta-binomial regression model to control for potential confounders (maternal and infant characteristics), we found increased risk for enamel hypoplasia among the VLBW infants compared with the NBW infants. African Americans had a lower risk for enamel hypoplasia at 18-20 mos. The VLBW infants should be monitored for ECC due to the presence of enamel hypoplasia.

  7. Bone marrow hypoplasia in a cat treated with griseofulvin. (United States)

    Rottman, J B; English, R V; Breitschwerdt, E B; Duncan, D E


    Three weeks after initiation of griseofulvin treatment for dermatophytosis (40 mg/kg of body weight, q 12 h), an 8-yr-old domestic shorthair cat developed depression, vomiting, and pyrexia. Abnormalities found during physical examination included bilateral mydriasis, visual impairment, grade-II/V systolic murmur and multiple areas of alopecia. The cat was pancytopenic; serum biochemical abnormalities included hyperbilirubinemia, hyperglycemia, hyponatremia, and hypokalemia, and urinalysis revealed proteinuria, glycosuria, and bilirubinuria. Examination of a bone marrow aspirate revealed profound hypoplasia of all precursors. Griseofulvin toxicosis was diagnosed on the basis of the temporal relationship of drug administration with onset of clinical, hematologic, and biochemical abnormalities and failure to identify an infective or neoplastic cause for the bone marrow hypoplasia. The condition was refractory to treatment and the cat was euthanatized. Pathologic changes in the bone marrow were consistent with severe hypoplasia of all bone marrow precursors.

  8. 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)


    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.

  9. Diffuse Supravalvular Aortic Stenosis: Surgical Repair in Adulthood

    Directory of Open Access Journals (Sweden)

    Giovanni Ferlan


    Full Text Available We present the case of a 54-year-old woman in which a diffuse congenital supravalvular aortic stenosis (SVAS was associated with a severe aortic valve incompetence and heavy calcification of the aortic annulus. Repair consisted in resection of the ascending aorta, patch augmentation of the hypoplastic aortic root and annulus, placement of a 20 mm Dacron tubular graft (Vascutek, Renfrewshire, UK and aortic valve replacement with a mechanical prosthesis (Sorin, Turin, Italy. Follow-up echocardiography demonstrated normal prosthetic valve function and a postoperative three-dimensional computed tomographic scan showed a normal shape of the reconstructed ascending aorta.

  10. Infected abdominal aortic aneurysm due to Morganella morganii: CT findings. (United States)

    Kwon, Oh Young; Lee, Jong Seok; Choi, Han Sung; Hong, Hoon Pyo; Ko, Young Gwan


    An infected aortic aneurysm, or mycotic aneurysm, is a rare arterial dilatation due to destruction of the infected vessel wall. Common pathogens resulting in an infected aortic aneurysm are Salmonella and Clostridium species, as well as Staphylococcus aureus; Morganella morganii, on the other hand, is very rare. An infected abdominal aortic aneurysm has tendencies to grow rapidly and to rupture. The mortality rate is high in patients undergoing emergent surgical intervention. We report the case of a 65-year-old man who presented with an infected abdominal aortic aneurysm caused by M. morganii. A high index of suspicion and imaging tests are necessary in order to diagnose an infected aortic aneurysm.

  11. Treatment of infrarenal abdominal aortic dissection concomitant with an aneurysm

    Institute of Scientific and Technical Information of China (English)

    WANG Li-xin; ZHU Ting; FU Wei-guo; WANG Yu-qi; XI Xun; GUO Da-qiao; CHEN Bin; JIANG Jun-hao; YANG Ju; SHI Zhen-yu


    @@ Aortic dissection occurs when layers of the aortic walls are separated by the blood flow through an intimal tear. Dissection of the aorta most frequently originates in the ascending aorta (70%), followed by the descending aorta (22%), the aortic arch (7%) and the abdominal aorta (1/%).1 The dissection limited to the abdominal aorta is rare.2 An isolated abdominal aortic dissection (IAAD) concomitant with an abdominal aortic aneurysm (AAA) is uncommon. We present here one patient with IAAD and AAA treated by endovascular therapy.

  12. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ... (United States)

    ... IMAGe syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Enable Javascript to view ... combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by ...

  13. 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)


    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.)

  14. Trigeminal hypoplasia due to vertebrobasilar dolichoectasia: A new entity

    Directory of Open Access Journals (Sweden)

    Abhishek Jha


    Full Text Available The term "vertebrobasilar dolichoectasia" refers to anomalous dilatation of the intracranial arteries associated with elongation or tortuosity of the affected vessels. The etiology of the disease is unknown and is usually detected incidentally. The predominant clinical manifestations arise due to the mass effect of the dilated vessels and may include cranial nerve compression, extrinsic aqueductal compression, motor and sensory disturbances. Trigeminal hypoplasia is a very uncommon condition, usually described in association with Goldenhar-Gorlin syndrome and has not yet been attributed to vertebrobasilar dolichoectasia. The current case report highlights this rare association of trigeminal nerve hypoplasia and vertebrobasilar dolichoectasia, leading to hemifacial and corneal anesthesia.

  15. Dwarf with dual spinal kyphotic deformity at the cervical and dorsal spine unassociated with odontoid hypoplasia: Surgical management

    Directory of Open Access Journals (Sweden)

    Guru Dutta Satyarthee


    Full Text Available Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis. Interestingly, he also had additional asymptomatic kyphotic deformity of dorsal spine; however, odontoid proves hypoplasia was not observed. He was only symptomatic for cervical compression, accordingly surgery was planned. The patient was planned for correction of cervical kyphotic deformity under general anesthesia, underwent fourth cervical corpectomy with resection of posterior longitudinal ligament and fusion with autologous bone graft derived from right fibula, which was refashioned approximating to the width of the corpectomy size after harvesting and fixed between C3 and C5 vertebral bodies and further secured with anterior cervical plating. He tolerated surgical procedure well with improvement in power with significant reduction in spasticity. Postoperative X-ray, cervical spine revealed complete correction of kyphotic deformity cervical spine. At follow-up 6 months following surgery, he is doing well. Successful surgical correction of symptomatic cervical kyphotic deformity can be achieved utilizing anterior cervical corpectomy, autologous fibular bone graft, and anterior cervical plating.

  16. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. (United States)

    Perez, Yonatan; Gradstein, Libe; Flusser, Hagit; Markus, Barak; Cohen, Idan; Langer, Yshaia; Marcus, Mira; Lifshitz, Tova; Kadir, Rotem; Birk, Ohad S


    Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated foveal hypoplasia associated with congenital nystagmus and reduced visual acuity. Genome-wide homozygosity mapping followed by fine mapping defined a 830 Kb disease-associated locus (LOD score 3.5). Whole-exome sequencing identified a single missense mutation in the homozygosity region: c.95T>G, p.(Ile32Ser), in a conserved amino acid within the first predicted transmembrane domain of SLC38A8. The mutation fully segregated with the disease-associated phenotype, demonstrating an ∼10% carrier rate in Mumbai Jews. SLC38A8 encodes a putative sodium-dependent amino-acid/proton antiporter, which we showed to be expressed solely in the eye. Thus, a homozygous SLC38A8 mutation likely underlies isolated foveal hypoplasia.

  17. The future of aortic surgery in Europe

    DEFF Research Database (Denmark)

    Czerny, Martin; Bachet, Jean; Bavaria, Joseph;


    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...

  18. Unicuspid Aortic Stenosis in a Patient with Turner Syndrome: A Case Report. (United States)

    Essandoh, Michael; Castellon-Larios, Karina; Zuleta-Alarcon, Alix; Portillo, Juan Guillermo; Crestanello, Juan A


    Congenital aortic valve anomalies are the cause of premature aortic stenosis in pediatric and younger adult populations. Despite being very rare, unicuspid aortic valves account for approximately 5% of isolated aortic valve replacements. Patients with aortic stenosis, present with the same symptomatology independent of leaflet morphology. However, the presence of bicuspid and unicuspid aortic stenosis is associated with a higher incidence of aortopathy, especially in Turner syndrome patients. Turner syndrome, an X monosomy, is associated with aortic valve anomalies, aortopathy, and hypertension. These risk factors lead to a higher incidence of aortic dissection in this population. Patients with Turner syndrome and aortic stenosis that present for aortic valve replacement should therefore undergo extensive aortic imaging prior to surgery. Transthoracic echocardiography is the diagnostic tool of choice for valvular pathology, yet it can misdiagnose unicuspid aortic valves as bicuspid valves due to certain similarities on imaging. Transesophageal echocardiography is a better tool for distinguishing between the two valvular abnormalities, although diagnostic errors can still occur. We present a case of a 50-year-old female with history of Turner syndrome and bicuspid aortic stenosis presenting for aortic valve replacement and ascending aorta replacement. Intraoperative transesophageal echocardiography revealed a stenotic unicommissural unicuspid aortic valve with an eccentric orifice, which was missed on preoperative imaging. This case highlights the importance of intraoperative transesophageal echocardiography in confirming preoperative findings, diagnosing further cardiac pathology, and ensuring adequate surgical repair.

  19. Unicuspid Aortic Stenosis in a Patient with Turner Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Michael eEssandoh


    Full Text Available Congenital aortic valve anomalies are the cause of premature aortic stenosis in pediatric and younger adult populations. Despite being very rare, unicuspid aortic valves account for approximately 5% of isolated aortic valve replacements. Patients with aortic stenosis, present with the same symptomatology independent of leaflet morphology. However, the presence of bicuspid and unicuspid aortic stenosis is associated with a higher incidence of aortopathy, especially in Turner syndrome patients. Turner syndrome, an X monosomy, is associated with aortic valve anomalies, aortopathy, and hypertension. These risk factors lead to a higher incidence of aortic dissection in this population. Patients with Turner syndrome and aortic stenosis that present for aortic valve replacement should therefore undergo extensive aortic imaging prior to surgery.Transthoracic echocardiography is the diagnostic tool of choice for valvular pathology, yet it can misdiagnose unicuspid aortic valves as bicuspid valves due to certain similarities on imaging. Transesophageal echocardiography is a better tool for distinguishing between the two valvular abnormalities, although diagnostic errors can still occur. We present a case of a 50-year-old female with history of Turner syndrome and bicuspid aortic stenosis presenting for aortic valve replacement and ascending aorta replacement. Intraoperative transesophageal echocardiography revealed a stenotic unicommissural unicuspid aortic valve with an eccentric orifice, which was missed on preoperative imaging. This case highlights the importance of intraoperative transesophageal echocardiography in confirming preoperative findings, diagnosing further cardiac pathology, and ensuring adequate surgical repair.

  20. Repositioning of an Intraventricular Dislocated Aortic Valve during Transcatheter Aortic Valve Implantation

    NARCIS (Netherlands)

    Natour, Ehsan; Douglas, Yvonne L.; Jainandunsing, Jayant S.; Schurer, Remco A. J.; van der Werf, Hendrik W.; van den Heuvel, Ad F. M.


    The case is presented of a 75-year-old man referred for transcatheter aortic valve implantation. During the procedure the prosthetic aortic valve became dislocated into the left ventricle shortly after expansion. The subsequent steps taken to reposition the valve using only materials at hand are des

  1. Selective cerebro-myocardial perfusion in complex congenital aortic arch pathology: a novel technique. (United States)

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


    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.

  2. Association between enamel hypoplasia and dental caries in primary second molars and permanent first molars: A 3-year follow-up study

    Directory of Open Access Journals (Sweden)

    Sakeenabi Basha


    Full Text Available Context: Enamel hypoplasia is a defect caused by disturbances during enamel formation. These defects in the enamel present important clinical significance as they predispose a tooth to dental caries. Aim: The aim of this study was to assess the longitudinal relationships between enamel hypoplasia and caries experience of primary second molars and permanent first molars. Materials and Methods: The study sample consisted of 765 subjects who underwent dental examinations at both ages 6 and 9 by the calibrated examiner. Primary second molars and permanent first molars were scored for the presence of enamel hypoplasia for each participant. Caries presence and number of decayed and filled surfaces (dfs and DFS were determined at ages 6 and 9. The relationships between enamel hypoplasia and caries experience were assessed using multivariable regression models. Results: At the tooth level, 2.8% and 3.5% of children had hypoplasia on primary second molars and permanent first molars respectively. Multivariable logistic regression analyses showed that children with enamel hypoplasia were at a significantly higher risk of caries at both ages 6 (odds ratio, OR = 5.27 for primary second molars and OR = 3.21 for permanent first molars and age 9 (OR = 3.45 for primary second molars and OR = 4.57 for permanent first molars, and that a statistically significant association was seen with caries incidence (OR = 2.08 for primary second molars and OR = 2.87 for permanent first molars. Conclusion: Enamel hypoplasia appears to be a significant risk factor for caries in both primary second molars and permanent first molars and should be considered in caries risk assessment.

  3. [Acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult - 2014 AS SMC Guidelines on the classification and diagnosis of aortic diseases]. (United States)

    Gavorník, Peter; Dukát, Andrej; Gašpar, Ľudovít


    In addition to organovascular arterial ischemic diseases (cardiovascular, vasculovascular, neurovascular, extre-mitovascular, renovascular, genitovascular, bronchopulmovascular, mesenteriovascular, osteoarthromusculovascular, dermovascular, oculovascular, otovascular, stomatovascular etc.), aortic diseases contribute to the wide spectrum of arterial diseases: aortic aneurysms (AA), acute aortic syndromes (AAS) including aortic dissection (AD), intramural haematoma (IMH), penetrating atherosclerotic ulcer (PAU) and traumatic aortic injury (TAI), pseudoaneurysm, aortic rupture, atherosclerosis, vasculitis as well as genetic diseases (e.g. Turner syndrome, Marfan syndrome, Ehlers-Danlos syndrome) and congenital abnormalities including the coarctation of the aorta (CoA). Similarly to other arterial diseases, aortic diseases may be diagnosed after a long period of subclinical development or they may have an acute presentation. Acute aortic syndrome is often the first sign of the disease, which needs rapid diagnosis and decisionmaking to reduce the extremely poor prognosis. Key clinical-etiology-anatomy-patophysiology (CEAP) diagnostic aspects of aortic diseases are discussed in this document (project Vessels).

  4. Complete interruption of the aortic arch

    Energy Technology Data Exchange (ETDEWEB)

    Park, Sung Hak; Park, In Kyu; Lee, Won Hwa; Kim, Yong Joo; Kang, Duk Sik; Lee, Jong Tae [Kyungpook National University College of Medicine, Taegu (Korea, Republic of)


    Complete interrupture of the aortic arch is one of the least common cardiac malformation. In this condition, continuity between the ascending and descending protions of the aorta is not present, and the descending aorta is supplied through a reversing patent ductus arteriosus. In the majority of the patients a ventricular septal defect is present. Authors have experienced a case of the complete interruption of aortic arch, interruption between the left carotid and the left subclavian artery.

  5. Management of hypoplastic aortic arch associated with neonatal coarctation. (United States)

    Caspi, J; Ilbawi, M N; Muster, A; Roberson, D; Arcilla, R


    Controversy still exists as to whether hypoplastic aortic arch frequently associated with neonatal coarctation, should be enlarged at the time of coarctation repair. To determine the indications for and the outcome of repair of hypoplastic aortic arch, pre- and postoperative angiograms/echocardigraphy of 77 cases with isolated (n = 25, Group 1) or complex (n = 52, Group 2) neonatal coarctation operated upon between 1/80 and 12/89 were reviewed. Age was 5-14 days (mean 8 +/- 1.6). Aortic arch/ascending aorta diameter ratio (AR/AA) as a measure of the degree of aortic arch hypoplasia was 0.39-0.64 (0.52 +/- 0.04) in isolated and 0.15-0.47 (0.34 +/- 0.06) in complex coarctation (p < 0.05). Left subclavian flap aortoplasty was used in 72 patients; alone in 25, in combination with pulmonary artery banding in 43 patients, and simultaneously with intracardiac repair in 4 patients. Extensive reconstruction of aortic arch and coarctation with synthetic patch was performed in the remaining 5 patients (AR/AO = 0.16 +/- 0.03) using cardiopulmonary by-pass at the time of intracardiac repair. Operative mortality was 2/76 (2.5%). Follow-up is 6.6 +/- 1.4 years. Recoarctation occurred in 3 patients (4%). AR/AA increased to 0.86 +/- 0.1 in isolated (p < 0.05 vs preoperative) and to 0.7 +/- 0.1 in complex coarctation (p < 0.05 vs preoperative). In the majority of cases, hypoplastic aortic arch associated with coarctation grows satisfactorily following simple repair of coarctation with no significant residual narrowing.(ABSTRACT TRUNCATED AT 250 WORDS)

  6. Presentation

    Directory of Open Access Journals (Sweden)

    Paulo Henrique Freire Vieira


    Full Text Available This dossier focuses on one of the essential debate topics today about the territorial dimension of the new development strategies concerned with the worsening of the global socioecological crisis, that is: the challenges related to the activation and integration in networks of localized agri-food systems. For its composition, some contributions presented and debated during the VI International Conference on Localized Agri-food System - The LAFS facing the opportunities and challenges of the new global context have been gathered. The event took place in the city of Florianópolis, from May 21th to 25th of 2013. The event was promoted by the Federal University of Santa Catarina (UFSC and by the Center for the International Cooperation on Agricultural Research for Development (CIRAD. Besides UFSC and CIRAD, EPAGRI, State University of Santa Catarina (UDESC, as well as research institutes and universities from other states (UFMG, IEA/SP, UFS, UFRGS and Mexican and Argentinian partners from the RED SIAL Latino Americana also participated in the organization of lectures, discussion tables and workshops.

  7. Bacillus cereus endocarditis in native aortic valve. (United States)

    Ngow, H A; Wan Khairina, W M N


    Bacillus cereus endocarditis is rare. It has been implicated in immunocompromised individuals, especially in intravenous drug users as well as in those with a cardiac prosthesis. The patient was a 31-year-old ex-intravenous drug addict with a past history of staphylococcal pulmonary valve endocarditis, who presented with symptoms of decompensated cardiac failure. Echocardiography showed severe aortic regurgitation with an oscillating vegetation seen on the right coronary cusp of the aortic valve. The blood cultures grew Bacillus cereus. We report this as a rare case of Bacillus cereus endocarditis affecting a native aortic valve.

  8. Presentation

    Directory of Open Access Journals (Sweden)

    Eduardo Vicente


    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

  9. Valvular Aortic Stenosis: A Proteomic Insight

    Directory of Open Access Journals (Sweden)

    Fernando Vivanco


    Full Text Available Calcified aortic valve disease is a slowly progressive disorder that ranges from mild valve thickening with no obstruction of blood flow, known as aortic sclerosis, to severe calcification with impaired leaflet motion or aortic stenosis. In the present work we describe a rapid, reproducible and effective method to carry out proteomic analysis of stenotic human valves by conventional 2-DE and 2D-DIGE, minimizing the interference due to high calcium concentrations. Furthermore, the protocol permits the aortic stenosis proteome to be analysed, advancing our knowledge in this area. Summary: Until recently, aortic stenosis (AS was considered a passive process secondary to calcium deposition in the aortic valves. However, it has recently been highlighted that the risk factors associated with the development of calcified AS in the elderly are similar to those of coronary artery disease. Furthermore, degenerative AS shares histological characteristics with atherosclerotic plaques, leading to the suggestion that calcified aortic valve disease is a chronic inflammatory process similar to atherosclerosis. Nevertheless, certain data does not fit with this theory making it necessary to further study this pathology. The aim of this study is to develop an effective protein extraction protocol for aortic stenosis valves such that proteomic analyses can be performed on these structures. In the present work we have defined a rapid, reproducible and effective method to extract proteins and that is compatible with 2-DE, 2D-DIGE and MS techniques. Defining the protein profile of this tissue is an important and challenging task that will help to understand the mechanisms of physiological/pathological processes in aortic stenosis valves.

  10. 57. Aortic valve replacement with sutureless valve and mitral valve repair in patient with infected aortic homograft

    Directory of Open Access Journals (Sweden)

    A. attia


    Full Text Available The approach of implanting aortic sutureless valve inside the calcific homograft is suitable in redo surgery especially if associated with mitral valve surgery. Aortic valve replacement in patients who have undergone previous aortic root replacement with an aortic homograft remains a technical challenge because of homograft degeneration and the need for a redo Bentall operation. We report a case of redo aortic valve replacement (valve in valve with a sutureless valve and mitral valve repair by miniband annuloplasty in a female patient aged 64 years old who underwent aortic valve replacement with homograft 14 years ago and presented by sever aortic valve regurge and sever mitral valve regurge because of infective endocarditis. This technique allows rapid aortic valve replacement in a heavily calcified aortic root. It also avoids aortic valve size affection after mitral valve repair by ordinary methods especially in patients with small aortic annulus. This technique is particularly suitable in redo procedures for homograft degeneration, it avoids performing a redo Bentall operation with its known problems as well as to avoid patient prosthesis mismatch.

  11. Presentation

    Directory of Open Access Journals (Sweden)

    Helmut Renders


    Full Text Available We present to our esteemed readers the second edition of our journal for 2008. We have chosen the theme “The life and work of Prof. Dr. Jürgen Moltmann” as its special emphasis. It is our way to pay homage to J. Moltmann in the year the Universidade Metodista de São Paulo awards him an honorary Doctor Honoris Causa degree. Sincethe seventies, Moltmann and Latin America have been in dialog. In his emblematic work “A Theology of Liberation”, Gustavo Gutiérrez, the Catholic, discussed with Moltmann, the Reformed, the relationship between eschatology and history (GUTIÉRREZ, Gustavo.Teologia da Libertação. 5ª edição. Petrópolis, RJ: Vozes, 1985, p. 27, 137-139. A dialog held in the premises of IMS, which nowadays is called UMESP, has produced the little book “Passion for life” (MOLTMANN, Jürgen. Paixão pela vida. São Paulo, SP: ASTE - Associaçãode Seminários Teológicos Evangélicos, 1978.In the following years, the wide theological work of J. Moltmann went all the way from debates to congresses and has conquered the classrooms. Most probably, J. Moltmann is nowadays the most widely read European author in Brazilian theological seminaries. Thisrecognition can only be held in unison and the wide response to our request for articles confirms the huge repercussion that Moltmann’s work has been having up to today in Brazil. The ecumenical theologian J. Moltmann is ecumenically read. We believe that thisway we may be better equipped to answer to anyone who asks us for the reason there is hope in us. We have organized the articles on J. Moltmann’s theology according to the original publication date of the books dealt with in each essay. We also communicate that some articles which were originally requested for this edition of the journal will be published in the journal Estudos de Regilião in May 2009.As it is usual with the journal Caminhando, we have, besides this thematic emphasis, yet other contributions in the areas of

  12. Sarcoidosis presenting with severe hypocalcaemia.

    LENUS (Irish Health Repository)

    Saeed, A


    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.

  13. Presentation

    Directory of Open Access Journals (Sweden)

    Nicanor Lopes


    Full Text Available The Journal Caminhando debuts with a new editorial format: eachmagazine will have a Dossier.In 2010 Christianity celebrated the centenary of Edinburgh. TheWorld Missionary Conference in Edinburgh in 1910 is regarded by manyas missiological watershed in the missionary and ecumenical movement.So the Faculty of Theology of the Methodist Church (FATEO decidedto organize a Wesleyan Week discussing the issue of mission. For anevent of this magnitude FATEO invited the Rev. Dr. Wesley Ariarajah,Methodist pastor and teacher of Sri Lanka with extensive experience inpastoral ministry in local churches and professor of History of Religionsand the New Testament at the Theological College of Lanka, maintainedby the Protestant Churches in Sri Lanka. In 1981 he was invited to jointhe World Council of Churches, where he presided for over ten years theCouncil of Interreligious Dialogue. From 1992 he served as Deputy GeneralSecretary of the WCC.The following texts are not the speeches of the Rev. Dr. WesleyAriarajah, for they will be published separately. Nevertheless, the journaldialogs with the celebrations of the centenary of Edinburgh, parting formthe intriguing theme: "Mission in the 21st century in Brazil". After all, howis it that mission takes place among us in personal, church, and communityactivities?Within the Dossier, as common to the journal, the textos are organizedas follows: Bible, Theology / History and Pastoral Care. Other items thatdo not fit within the Dossier, but, do articulate mission, can be found inthe section Declarations and Documents and Book Reviews.The authors of the Dossier have important considerations in buildinga contemporary missiological concept considering Brazilian reality.Anderson de Oliveira, in the Bible-Section, presents a significantexegeses of Matthew 26.6-13. What does it mean when Jesus is quotedwith the words: "For the poor always ye have with you, but me ye havenot always." Is this declaration challenging the gospels

  14. Aortic root, not valve, calcification correlates with coronary artery calcification in patients with severe aortic stenosis

    DEFF Research Database (Denmark)

    Henein, Michael; Hällgren, Peter; Holmgren, Anders


    BACKGROUND: The underlying pathology in aortic stenosis (AS) and coronary artery stenosis (CAS) is similar including atherosclerosis and calcification. We hypothesize that coronary artery calcification (CAC) is likely to correlate with aortic root calcification (ARC) rather than with aortic valve...... calcification (AVC), due to tissue similarity between the two types of vessel rather than with the valve leaflet tissue. MATERIAL AND METHODS: We studied 212 consecutive patients (age 72.5 ± 7.9 years, 91 females) with AS requiring aortic valve replacement (AVR) in two Heart Centers, who underwent multidetector...... cardiac CT preoperatively. CAC, AVC and ARC were quantified using Agatston scoring. Correlations were tested by Spearman's test and Mann-Whitney U-test was used for comparing different subgroups; bicuspid (BAV) vs tricuspid (TAV) aortic valve. RESULTS: CAC was present in 92%, AVC in 100% and ARC in 82...

  15. Association between enamel hypoplasia and dental caries in primary second molars: a cohort study. (United States)

    Hong, L; Levy, S M; Warren, J J; Broffitt, B


    The purpose of this study was to assess the longitudinal relationships between enamel hypoplasia and caries experience of primary second molars. The study sample was 491 subjects who received dental examinations at both age 5 and 9 by the calibrated examiners. Four primary second molars (n = 1,892) were scored for the presence of enamel hypoplasia for each participant. Caries presence and number of decayed and filled surfaces (dfs) were determined at age 5 and 9. The relationships between enamel hypoplasia and caries experience were assessed. Among primary second molars, 3.9% of children and 1.7% of primary second molars had enamel hypoplasia. At age 5, 36.8% of children with hypoplasia had caries, while 16.9% of children without enamel hypoplasia had caries. At age 9, the corresponding numbers were 52.6% for children with hypoplasia and 34.5% for children without hypoplasia, respectively. At the tooth level, for age 5, 28.1% of teeth with hypoplasia had caries (mean dfs = 0.40), and 7.6% of teeth without hypoplasia had caries (mean dfs = 0.11). At age 9, the corresponding numbers were 41.9% (mean dfs = 0.76) for teeth with hypoplasia and 18.3% (mean dfs = 0.34) for teeth without hypoplasia. In multivariable logistic regression analyses, teeth of subjects with enamel hypoplasia had a significantly higher risk for caries at age 5 and 9 after controlling for other risk factors. Enamel hypoplasia appears to be a significant risk factor for caries and should be considered in caries risk assessment.

  16. Tubular hypoplasia of the aorta and right atrioventricular valve dysplasia in a Bulldog. (United States)

    Robinson, Nicholas A; Armíen, Aníbal G


    A Bulldog puppy that died at 1 day of age was presented for postmortem evaluation. Macroscopically, there was marked hypoplasia of the ascending, transverse, and proximal segments of the descending thoracic aorta and almost complete secondary thrombosis of the left ventricle causing a functional stenosis of the left atrioventricular valve. Separately, there was right atrioventricular valve dysplasia with secondary dilation of the right atrium. Microscopically, the left ventricular outflow tract was occluded by chondroid metaplasia, fibrosing recanalization of a left-ventricular thrombus, and isolated Purkinje fiber degeneration and necrosis.

  17. Surgical management of a hypoplastic distal aortic arch and coarctation of aorta in a patient with Klippel-Feil syndrome, ascending aortic aneurysm and bicuspid aortic valve. (United States)

    Sabol, Frantisek; Kolesar, Adrián; Toporcer, Tomás; Bajmoczi, Milan


    Klippel-Feil syndrome has been associated with cardiovascular malformations, but only 3 cases have been reported to be associated with aortic coarctation and surgical management is not defined. A 51-year old woman with Klippel-Feil syndrome associated with an aneurysm of the ascending aorta, hypoplastic aortic arch and aortic coarctation at the level of the left subclavian artery presented with shortness of breath 2 years after diagnosis. Imaging identified interim development of a 7.2-cm aneurysm at the level of the aortic coarctation. She underwent surgical repair with a Dacron interposition graft under hypothermic circulatory arrest. She continues to do well 18 months following repair.

  18. Aortic valve replacement in familial hypercholesterolemia: not an ordinary procedure. (United States)

    Muretti, Mirko; Massi, Francesco; Coradduzza, Enrico; Portoghese, Michele


    Familial hypercholesterolemia is an inherited disorder with incidences of approximately 1:500 and 1:1,000,000 in heterozygous and homozygous form respectively. Affected patients usually show early coronary artery disease and severe aortic root calcification, despite optimization of therapy. We report a case of a 64-year-old woman affected by heterozygous familial hypercholesterolemia which presented dyspnea and anginal symptoms due to a severely calcified aortic root causing valve stenosis and narrowed sinotubular junction. Aortic valve replacement and aortic root enlargement were performed using the Manougian procedure. Even for experiences surgeons, this surgery could prove challenging for this group of patients due to aggressive degenerative tissue calcification of the aortic root, which often presents an extremely calcified aortic valve with a small annulus associated to a narrowed sinotubular junction.

  19. Medical image of the week: aortic ring

    Directory of Open Access Journals (Sweden)

    Wong C


    Full Text Available No abstract available. Article truncated after 150 words. A 78 year old man presented with altered mental status and was found to have an intraventricular hemorrhage. He was intubated for airway protection. On the post-intubation chest radiograph (Figure 1, the patient was noted to have a widening of the right paratracheal stripe. A CT chest (Figure 2 was obtained to characterize this finding and revealed an aortic ring which encircles the trachea and esophagus. Vascular rings are uncommon congenital abnormalities, accounting for approximately 1% of congenital heart disease. Complete vascular rings can occur with a right aortic arch with a ligamentum arteriosum or with a double aortic arch, such as with our patient (1. This ring can cause airway compression, stridor, esophageal compression, or no symptoms at all. As the embryo develops, the left fourth pharyngeal arch normally persists to become the aortic arch while the right fourth pharyngeal arch regresses. If both fourth pharyngeal arches persist, a ...

  20. Can release of urinary retention trigger abdominal aortic aneurysm rupture? (United States)

    Luhmann, Andreas; Powell-Bowns, Matilda; Elseedawy, Emad


    Only 50% of abdominal aortic aneurysms present with the classic triad of hypotension, back pain and a pulsatile abdominal mass. This variability in symptoms can delay diagnosis and treatment. We present the case of a patient presenting with a unique combination of symptoms suggesting that decompression of urinary retention can lead to abdominal aortic aneurysm rupture.

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

    Directory of Open Access Journals (Sweden)

    Muhammet Akyuz


    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.

  2. Unilateral primary pulmonary agenesis and hypoplasia in monozygotic twins. (United States)

    Alsaadi, Muslim; Al Muqhem, Badr; Boukai, A; Iqbal, Shaikh M


    We describe 10-month-old identical female twin infants, one with primary left-sided pulmonary agenesis and the other with primary left-sided pulmonary hypoplasia. They came to our outpatient clinic complaining of persistent dry cough. The clinical examination revealed decreased air entry over the left hemithorax. Chest x-rays showed complete left-sided radio-opacity in both the twins. The chest computed tomography scan with contrast confirmed the diagnoses of left-sided pulmonary agenesis (twin A) and left-sided hypoplasia (twin B). No other associated congenital anomaly was noted in either of the twins. To our knowledge, such a condition in live monozygotic twins has not been previously reported in published studies.

  3. Acute aortic and mitral valve regurgitation following blunt chest trauma. (United States)

    Bernabeu, Eduardo; Mestres, Carlos A; Loma-Osorio, Pablo; Josa, Miguel


    Traumatic rupture of intracardiac structures is an uncommon phenomenon although there are a number of reports with regards to rupture of the tricuspid, mitral and aortic valves. We report the case of a 25-year-old patient who presented with acute aortic and mitral valve regurgitation of traumatic origin. Both lesions were seen separated by 2 weeks. Pathophysiology is reviewed. The combination of both aortic and mitral lesions following blunt chest trauma is almost exceptional.

  4. Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs


    Pérez Pérez, Valentín; Suárez-Vega, Aroa; Fuertes, M.; Benavides, Julio; Delgado, L.; Ferreras, Mª del Carmen; Arranz, Juan José


    Abstract Background Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of t...

  5. Oral rehabilitation for a patient with oligodontia and maxillary hypoplasia


    Chung, Da-Woon; Vang, Mong-Sook; Park, Sang-Won; Lim, Hyun-Pil; Yang, Hong-So


    An 18 year old female with oligodontia and maxillary hypoplasia was treated using an interdisciplinary team approach involving orthodontists, maxillofacial surgeons and prosthodontists. Full mouth one-piece fixed partial dentures were the final restoration. The fixed partial dentures fabricated for the maxilla and mandible using the concept of a shortened dental arch resulted in improved esthetics and the masticatory function. This paper describes the treatment procedures for an oligodontia p...

  6. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

    Directory of Open Access Journals (Sweden)

    Poll-The Bwee


    Full Text Available Abstract Pontocerebellar Hypoplasia (PCH is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7. The incidence of each subtype is unknown. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Patients have severe cognitive and motor handicaps and seizures are often reported. Treatment is only symptomatic and prognosis is poor, as most patients die during infancy or childhood. The genetic basis of different subtypes has been elucidated, which makes prenatal testing possible in families with mutations. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. The tRNA splicing endonuclease, the mitochondrial arginyl- tRNA synthetase and the vaccinia related kinase1 are mutated in the minority of PCH1 cases. These genes are involved in essential processes in protein synthesis in general and tRNA processing in particular. In this review we describe the neuroradiological, neuropathological, clinical and genetic features of the different PCH subtypes and we report on in vitro and in vivo studies on the tRNA splicing endonuclease and mitochondrial arginyl-tRNA synthetase and discuss their relation to pontocerebellar hypoplasia.

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

    Carrel, Thierry


    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.

  8. Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia. (United States)

    Garavelli, Livia; Gargano, Giancarlo; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Melli, Nives; Braibanti, Silvia; Gelmini, Chiara; Forzano, Francesca; Pietrobono, Roberta; Pomponi, Maria Grazia; Andreucci, Elena; Toutain, Annick; Superti-Furga, Andrea; Neri, Giovanni


    The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly.

  9. Delayed aortic regurgitation caused by a right coronary stent protruding into the aorta. (United States)

    Quintana, Eduard; Mestres, Carlos A; Congiu, Stefano; Josa, Miguel; Cartañá, Ramon


    Aortic valve perforation is an extremely rare complication after percutaneous coronary intervention. The case is presented of a 49-year-old male with aortic valve regurgitation secondary to the intra-aortic protrusion of a right coronary stent. The patient had undergone an apparently successful rescue percutaneous transluminal coronary angioplasty with a drug-eluting stent following failed fibrinolysis, but one month later was readmitted for acute pulmonary edema. Further investigations demonstrated new-onset aortic regurgitation. Medical stabilization was achieved and an elective aortic valve replacement and coronary revascularization performed. Intraoperatively, the stent was found to be partially deployed within the aortic lumen, causing perforation to the non-coronary cusp.

  10. Fluid dynamics of aortic root dilation in Marfan syndrome

    CERN Document Server

    Querzoli, Giorgio; Espa, Stefania; Costantini, Martina; Sorgini, Francesca


    Aortic root dilation and propensity to dissection are typical manifestations of the Marfan Syndrome (MS), a genetic defect leading to the degeneration of the elastic fibres. Dilation affects the structure of the flow and, in turn, altered flow may play a role in vessel dilation, generation of aneurysms, and dissection. The aim of the present work is the investigation in-vitro of the fluid dynamic modifications occurring as a consequence of the morphological changes typically induced in the aortic root by MS. A mock-loop reproducing the left ventricle outflow tract and the aortic root was used to measure time resolved velocity maps on a longitudinal symmetry plane of the aortic root. Two dilated model aortas, designed to resemble morphological characteristics typically observed in MS patients, have been compared to a reference, healthy geometry. The aortic model was designed to quantitatively reproduce the change of aortic distensibility caused by MS. Results demonstrate that vorticity released from the valve ...

  11. Small aortic valve annulus in children with fixed subaortic stenosis. (United States)

    Thilenius, O G; Campbell, D; Bharati, S; Lev, M; Arcilla, R A


    Twenty-one hearts with fixed subaortic stenosis (FSAS) were examined pathologically. Thirty children with no hemodynamically significant heart disease, 31 children with valvar aortic stenosis, and 25 children with FSAS were studied by echo- and angiocardiography. The following conclusions were drawn: (1) Patients with FSAS often have abnormal aortic valve leaflets as well as small aortic valve annulus. (2) A small aortic annulus/descending aorta ratio is probably present at birth, and may decrease with increasing age. (3) In some patients with FSAS the aortic valve annulus is too small for simple resection of the fibroelastic tissue. A Konno operation is needed for these patients. (4) M-mode echocardiography has not been useful in identifying abnormally small aortic valve annulus in FSAS patients.

  12. Implantation of the CoreValve percutaneous aortic valve. (United States)

    Lamarche, Yoan; Cartier, Raymond; Denault, André Y; Basmadjian, Arsène; Berry, Colin; Laborde, Jean-Claude; Bonan, Raoul


    Surgical aortic valve replacement is the only recommended treatment for significant aortic valve stenosis. Percutaneous aortic valve replacement appears to be a novel option for high-risk patients. We report the implantation of the ReValving system (CoreValve, Paris, France) in a 64-year-old woman who was refused aortic valve replacement surgery for critical aortic stenosis and left ventricular dysfunction because of severe pulmonary fibrosis. After anesthesia, the patient was put on femorofemoral cardiopulmonary bypass, and underwent a balloon valvuloplasty with subsequent retrograde aortic valve replacement by the ReValving system. Transesophageal echocardiographic monitoring of the patient's hemodynamics showed immediate improvements of the valvular area and left ventricular ejection fraction and only traces of paravalvular leaks. The patient was easily weaned from ventilation and resumed activity soon after the surgery. A multidisciplinary approach is presently necessary to offer a reliable and safe procedure.

  13. Double aortic arch and nasogastric tubes: A fatal combination

    Institute of Scientific and Technical Information of China (English)

    Julia Massaad; Kelly Crawford


    Double aortic arch is a common form of complete vascular ring that encircles both the trachea and the esophagus, and presents with various respiratory and esophageal symptoms, usually in the pediatric population.We present a case of double aortic arch in an adult patient that manifested as massive upper gastrointestinal bleeding after prolonged nasogastric intubation.

  14. [A case of right pulmonary hypoplasia with congenital diaphragmatic hernia and dextrocardia]. (United States)

    Andou, A; Shimizu, N; Okabe, K; Date, H; Teramoto, S


    Chest X-ray of a 28-year-old woman revealed an abnormal shadow in the right lower lung field and dextrocardia, for which detailed investigation was performed. Since the CT number of the tumor shadow corresponded to that of the liver on chest CT, diaphragmatic hernia of the liver was suspected, and was confirmed by MRI and angiography of the abdomen. In addition, the pulmonary artery and vein were hypoplastic, and angiography of the pulmonary artery demonstrated pulmonary hypoplasia. This case was considered to have primary pulmonary hypoplasia, because the dextrocardia was considered to have occurred secondary to pulmonary hypoplasia and the diaphragmatic hernia of the liver was not sufficiently large to cause pulmonary hypoplasia. Pulmonary hypoplasia first diagnosed in adulthood is rare, with a clinical course and roentgenographic appearance differing from those of pulmonary hypoplasia in children.

  15. 椎动脉发育不良与后循环缺血性卒中%Vertebral artery hypoplasia and posterior circulation ischemic stroke

    Institute of Scientific and Technical Information of China (English)

    孙增强; 刘明玲; 田兵; 徐蔚海


    Vertebral artery hypoplasia is a frequent variation type of vertebral arteries.At present,there is no unified theory about the relationship between vertebral artery hypoplasia and posterior circulation ischemic stroke.The available evidence suggests that vertebral artery hypoplasia may be a precipitating factor for posterior circulation ischemic stroke; particularly other vascular risk factors coexist.This article elaborates the epidemiology of vertebral artery hypoplasia,the clinical manifestation and imaging features of vertebral artery hypoplasia in patients with posterior circulation ischemic stroke,and the possible mechanism of vertebral artery hypoplasia caused posterior circulation ischemic stroke.%椎动脉发育不良是椎动脉的一种常见变异类型.关于椎动脉发育不良与后循环缺血性卒中的关系,目前尚无统一定论.现有的证据提示,椎动脉发育不良可能是后循环缺血性卒中的促发因素,尤其是在并存其他血管危险因素的情况下.文章阐述了椎动脉发育不良的流行病学、椎动脉发育不良患者后循环缺血性卒中的临床表现和影像学特点以及椎动脉发育不良引起后循环缺血性卒中的可能机制.

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


    Kobra Shiasi Arani


    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...

  17. Unreliability of aortic size index to predict risk of aortic dissection in a patient with Turner syndrome (United States)

    Nijs, Jan; Gelsomino, Sandro; Lucà, Fabiana; Parise, Orlando; Maessen, Jos G; Meir, Mark La


    Aortic size index (ASI) has been proposed as a reliable criterion to predict risk for aortic dissection in Turner syndrome with significant thresholds of 20-25 mm/m2. We report a case of aortic arch dissection in a patient with Turner syndrome who, from the ASI thresholds proposed, was deemed to be at low risk of aortic dissection or rupture and was not eligible for prophylactic surgery. This case report strongly supports careful monitoring and surgical evaluation even when the ASI is < 20 mm/m2 if other significant risk factors are present. PMID:24944765

  18. Chronic hepatitis C infection in a patient with bone marrow hypoplasia

    Institute of Scientific and Technical Information of China (English)


    Chronic hepatitis C virus (HCV) infection is associated with multifarious extra-hepatic manifestations; the most described and discussed being mixed cryoglob- ulinemia which is strongly related to B-cell lympho- proliferative disorders (LPDs). We present a case of chronic HCV infection and mixed cryoglobulinemia, with minimal liver involvement. The case is a 53-year- old patient who was diagnosed as having bone marrow hypoplasia at the age of three. She received several blood transfusions to normalize her haemoglobin. At the age of 31, she was diagnosed with rheumatoid ar- thritis on account of her diffuse joint pain and inflam- mation, elevated rheumatoid factor (RF) and Raynaud's phenomenon. Twenty years later, monoclonal gam- mopathy of IgG Lambda (one year later, changed to IgM Kappa) was detected during a routine examina- tion. A bone marrow biopsy showed hypoplasia, Kappa positive B-lymphocytes and low-grade malignant lym- phoma cells. PCR of the bone marrow aspirate was not contributory. No treatment was initiated owing to her poor bone marrow function and she is under regular follow-up.

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

    Directory of Open Access Journals (Sweden)

    Kovach I.V.


    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.

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

    Directory of Open Access Journals (Sweden)

    Ashish Suryawanshi


    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.

  1. Aortic Valve Disease (United States)

    ... that is safest for you based on your individual symptoms and circumstances. Recovery Recovery Most aortic valve ... is safe to do so. You should anticipate spending several days, but likely not more than a ...

  2. Bicuspid aortic valve (United States)

    ... aortic disease. In: Otto CM, Bonow RO, eds. Valvular Heart Disease: A Companion to Braunwald's Heart Disease . 4th ed. ... PA: Elsevier Saunders; 2014:chap 13. Carabello BA. Valvular heart disease. In: Goldman L, Schafer AI, eds. Goldman's Cecil ...

  3. Aortic Valve Regurgitation (United States)

    ... inside your heart that involves heart valves. Rheumatic fever. Rheumatic fever — a complication of strep throat and once a ... the United States — can damage the aortic valve. Rheumatic fever is still prevalent in developing countries but rare ...

  4. Aortic Valve Stenosis (United States)

    ... evaluation of aortic stenosis in adults. Accessed April 29, 2014. Mohty D, ... Valvular heart disease in elderly adults. Accessed May 2, 2014. Bonow RO, ...

  5. 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 mate


    Directory of Open Access Journals (Sweden)



    Full Text Available BACKGROUND: Posterior embryotoxon is a congenital anomaly, considered to be a relatively mild disorder and can occur in 15% of normal eyes. Bilateral posterior embryotoxon associated with maxillary hypoplasia, Ventricular Septal Defect (VSD, Pulmonary Atresia (PA with Patent Ductus Arteriosus (PDA is of rare occurrence and hasn’t been reported in literature till date. CASE: We report a case of 12 year old female who came to us in eye Out Patient Department for routine eye checkup and on detailed ocular examination we found anteriorly displaced Schwalbe’s line. On detailed physical examination and investigations she was found to have pan-systolic murmur and continuous machinery murmur. On Echocardiography, the patient was found to have large peri-membranous VSD with PA and PDA. On Oro-dental examination she was found to have maxillary hypoplasia. CONCLUSION: The present case is reported due to the rarity and sporadic character of the condition and its rare association with cardiac defect and maxillary hypoplasia.

  7. Banding for type IA endoleak after endovascular abdominal aortic repair: An underexposed treatment option. (United States)

    van Lammeren, G W; Ünlü, Ç; De Vries, J P P M


    More challenging abdominal aortic aneurysms with unfavorable proximal aortic neck anatomy are treated with endovascular means. As a consequence, proximal inadequate sealing may result in type IA endoleak, which in turn can lead to abdominal aortic aneurysm progression or rupture. The presence of type IA endoleak is an indication for secondary interventions. External aortic banding can be a good option to solve a type IA endoleak, but is underreported in literature; we present two cases and review literature.

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

    Directory of Open Access Journals (Sweden)

    Sarah Farrell


    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.

  9. Aortic Endograft Infection by Pasteurella multocida: A Rare Case. (United States)

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


    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.

  10. Incidental necropsy finding of a quadricuspid aortic valve

    NARCIS (Netherlands)

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


    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.

  11. Management of Mandibular Hypoplasia Using Distraction Osteogenesis Technique

    Institute of Scientific and Technical Information of China (English)

    陶学金; 樊敏; 凌翔; 陈卫民


    Summary: By using distraction osteogenesis technique, 3 cases of mandibular hypoplasia were treated by home-made and German-made jaw distractors: including one patient suffered from bilateral ankylosis of temporo-mandibular joint and 2 patients from deficiency of mandible. The duration of distraction osteogenesis was one month. The bone distractor was removed 3 months after operation. Satisfactory results were obtained in all 3 cases. Distraction osteogenesis can successfully be used in mandibular functional reconstruction and has much more advantages than traditional technique.

  12. Neonate Aortic Stenosis: Importance of Myocardial Perfusion in Prognosis

    Directory of Open Access Journals (Sweden)

    Marco Aurélio Santos


    Full Text Available OBJECTIVE: To analyze our experience with percutaneous aortic balloon valvuloplasty in newborn infants with aortic stenosis, emphasizing the extraordinary importance of myocardial perfusion.METHODS: Over a 10-year-period, 21 neonates underwent percutaneous aortic balloon valvuloplasty. Age ranged from 2 to 27 days, weight ranged from 2.2 to 4.1 kg and 19 were males. All patients presented with congestive heart failure that could not be treated clinically. The onset of symptoms in the first week of life occurred in 9 patients considered as having critical aortic stenosis. Severe aortic stenosis occurred in 12 patients with the onset of symptoms in the second week of life.RESULTS: Mortality reached 100% in the patients with critical aortic stenosis. The procedure was considered effective in the 12 patients with severe aortic stenosis. Vascular complications included the loss of pulse in 12 patients and rupture of the femoral artery in 2 patients. Cardiac complications included acute aortic regurgitation in 2 patients and myocardial perforation in one. In an 8.2±1.3-year follow-up, 5 of the 12 patients died (2 patients due to septicemia and 3 patients due to congestive heart failure. Five of the other 7 patients underwent a new procedure and 2 required surgery.CONCLUSION: Percutaneous aortic valvuloplasty in neonates is not an effective procedure in the 1st week of life, because at this age the common presentation is cardiogenic shock. It is possible that, in those patients with critical aortic stenosis, dilation of the aortic valve during fetal life may change the prognosis of its clinical outcome.

  13. The distraction osteogenesis in midfacial hypoplasia. (United States)

    Lucchese, Alessandra; Gherlone, Enrico F; Asperio, Paolo; Baena, Ruggero Rodriguez y


    Distraction osteogenesis (DO) can generate new bone in a gap between 2 vascularized bone surfaces in response to application of graduated tensile stress across the bone gap. The authors present the clinical result in a cleft patient with severe maxillary deficiency treated by a rigid external distraction (RED) device. A boy complained of both masticatory and psychological problems because of cleft with severe midfacial retrusion. The treatment aimed to create a well-balanced facial profile, increase maxillary incisal display, create proper overjet and overbite, and align his dentition. By the RED system, the traction is applied to the maxilla through the dentition by an intraoral splint. A complete Le Fort I osteotomy was performed, including pterygomaxillary and septal disjunction, with mobilization. Once osteotomy was completed, the halo portion of the RED device was adjusted for the width of the neurocranium and was rigidly fixed around the head with 2 scalp screws on each side. A well-balanced facial profile and a good alignment of the dentition were obtained. The patients had considerable improvement in his self-esteem. Clinical reports have suggested that maxillary advancements achieved by distraction are more stable than those achieved with orthognathic surgery with a minimal influence on velopharyngeal competence.

  14. High-risk pregnancy in a woman with Marfan syndrome, a bicuspid aortic valve, and a dilated aortic sinus

    DEFF Research Database (Denmark)

    Groth, Kristian Ambjørn; Greisen, Jacob Raben; Nielsen, Birgitte Bruun;


    A 29-year-old woman with Marfan syndrome, a bicuspid aortic valve, and a dilated aortic sinus (5.2 cm) presented herself in clinic 14 weeks pregnant. She was advised to discontinue the pregnancy due to risk of dissection; however, she decided to continue. She was treated with labetalol (300 mg...

  15. Aortic valve leaflet replacement with bovine pericardium to preserve native dynamic capabilities of the aortic annulus. (United States)

    Kim, Kyung Hwa; Choi, Jong Bum; Kim, Min Ho; Kim, Won Ho; Lee, Mi Kyung; Lee, Sam Youn


    Valve replacement is typically the most appropriate option for treating aortic valve stenotic insufficiency. However, neither mechanical nor bioprosthetic replacement components preserve the circumferential expansion and contraction of a native aortic annulus during the cardiac cycle, because the prosthetic ring is affixed to the annulus. A 64-year-old man presented with a bicuspid and stenotic aortic valve, and the native annulus was too small to accommodate a porcine replacement valve. We fashioned new aortic leaflets from bovine pericardium with use of a template, and we affixed the sinotubular junction with use of inner and outer stabilization rings. Postoperative echocardiograms revealed coaptation of the 3 new leaflets with no regurgitation. At the patient's 5.5-year follow-up examination, echocardiograms showed flexible leaflet movement with a coaptation height of 7 mm, and expansion and contraction of the aortic annulus similar to that of a normal native annulus. The transvalvular pressure gradient was insignificant. If long-term durability of the new leaflets is confirmed, this method of leaflet replacement and fixation of the sinotubular junction might serve as an acceptable alternative to valve replacement in the treatment of aortic valve stenosis. We describe the patient's case and present our methods and observations.

  16. Screening for Abdominal Aortic Aneurysm (United States)

    Understanding Task Force Recommendations Screening for Abdominal Aortic Aneurysm The U.S. Preventive Services Task Force (Task Force) has issued a final recommendation statement on Screening for Abdominal Aortic Aneurysm. This final ...

  17. Abdominal aortic aneurysm repair - open (United States)

    ... this page: // Abdominal aortic aneurysm repair - open To use the sharing features on this page, please enable JavaScript. Open abdominal aortic aneurysm repair is surgery to fix a widened part ...

  18. Abdominal aortic feminism. (United States)

    Mortimer, Alice Emily


    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.

  19. [Congenital aortic stenosis]. (United States)

    Yamaguchi, M


    Recent advances in and controversies concerning the management of children with congenital valvular aortic stenosis are discussed. In neonates with critical aortic stenosis, improved survival has recently been reported after surgical open valvotomy and balloon valvuloplasty, although it is difficult at this point to compare the results of the two procedures and determine their differential indications. Good results have also been achieved after extended aortic valvuloplasty for recurrent aortic stenosis and/or insufficiency, but the length of follow-up in these patients is still short. The technique first reported in 1991 for bilateral enlargement fo a small annulus permits the insertion of an aortic valve 3-4 sizes larger than the native annulus. It entails no risk of distorting the mitral valve, damaging the conduction system or important branches of the coronary arteries, or resulting in left ventricular dysfunction. The Ross procedure is now widely applied in the West, with reports of early mortality rates of less than 5% and event-free survival rates of 80-90% during follow-up of 4-8 years. Longer follow-up and continued careful evaluation are required to resolve the issue of possible dilatation and subsequent neoaortic valve dysfunction and pulmonary stenosis due to allograft degeneration after pulmonary autograft root replacement in children.

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

    Directory of Open Access Journals (Sweden)

    Devi Eka Juniarti


    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

  1. Aortic valve replacement

    DEFF Research Database (Denmark)

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


    mortality were collected. Group analysis by patient geographic distribution and by annular diameter of the prosthesis utilized was conducted. Patients with a manufacturer's labeled prosthesis size > or = 21 mm were assigned to the 'large' aortic size subset, while those with a prosthesis size ... 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...... differences in the distribution of either gender or BSA. In the multivariable model, south European patients were seven times more likely to receive a smaller-sized aortic valve (OR = 6.5, 95% CI = 4.82-8.83, p

  2. Robotic aortic surgery. (United States)

    Duran, Cassidy; Kashef, Elika; El-Sayed, Hosam F; Bismuth, Jean


    Surgical robotics was first utilized to facilitate neurosurgical biopsies in 1985, and it has since found application in orthopedics, urology, gynecology, and cardiothoracic, general, and vascular surgery. Surgical assistance systems provide intelligent, versatile tools that augment the physician's ability to treat patients by eliminating hand tremor and enabling dexterous operation inside the patient's body. Surgical robotics systems have enabled surgeons to treat otherwise untreatable conditions while also reducing morbidity and error rates, shortening operative times, reducing radiation exposure, and improving overall workflow. These capabilities have begun to be realized in two important realms of aortic vascular surgery, namely, flexible robotics for exclusion of complex aortic aneurysms using branched endografts, and robot-assisted laparoscopic aortic surgery for occlusive and aneurysmal disease.

  3. Familial Thoracic Aortic Aneurysms and Dissections: Identification of a Novel Locus for Stable Aneurysms with a Low Risk for Progression to Aortic Dissection (United States)

    Guo, Dong-Chuan; Regalado, Ellen S.; Minn, Charles; Tran-Fadulu, Van; Coney, Joshua; Cao, Jiumei; Wang, Min; Yu, Robert K.; Estrera, Anthony L.; Safi, Hazim J.; Shete, Sanjay S.; Milewicz, Dianna M.


    Background Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. Approximately 20% of patients with TAAD have a family history of TAAD, and these patients present younger with more rapidly enlarging aneurysms than patients without a family history of aortic disease. Methods and Results A large family with multiple members with TAAD inherited in an autosomal dominant manner was identified. The ascending aortic aneurysms were associated with slow enlargement, a low risk of dissection, and decreased penetrance in women. Genome-wide linkage analysis was performed and a novel locus on chromosome 12 was identified for the mutant gene causing disease in this family. Of the 12 male members who carry the disease-linked microsatellite haplotype, nine had ascending aortic aneurysms with an average diameter of 4.7 cm and average age of 55 years (age range, 32-76) at the time of diagnosis; only one individual had progressed to acute aortic dissection and no other members with aortic dissections were identified. Women harboring the disease-linked haplotype did not have thoracic aortic disease, including an 84 year old woman. Sequencing of 9 genes within the critical interval at the chromosome 12 locus did not identify the mutant gene. Conclusion Mapping a locus for ascending thoracic aortic aneurysms associated with a low risk of aortic dissection supports our hypothesis that genes leading to familial disease can be associated with less aggressive thoracic aortic disease. PMID:21163914

  4. FBN1 Mutations in Patients With Descending Thoracic Aortic Dissections (United States)

    Brautbar, Ariel; LeMaire, Scott A.; Franco, Luis M.; Coselli, Joseph S.; Milewicz, Dianna M.; Belmont, John W.


    Aortic aneurysm and dissection cause significant morbidity and mortality. There are several known single gene disorders that predispose to isolated aortic disease and eventually aneurysm and dissection. FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection. In this report, we describe three patients who presented with primary descending thoracic aortic dissection and who were found to have an FBN1 mutation. None of the patients fulfilled clinical criteria for the diagnosis of MFS, and all had few or none of the skeletal features typical of the condition. Two patients had a history of long-term hypertension, and such a history was suspected in the third patient. These observations suggest that some individuals with FBN1 mutations have significant aortic disease involvement of other systems that is typical of FBN1 mutation-related syndromes. Superimposed risk factors, such as hypertension, may weaken the aortic wall and eventually lead to aortic dissection. Given that the cost continues to decrease, we suggest that diagnostic DNA sequencing for FBN1 mutations in patients with thoracic aortic aneurysms and dissection may be a practical clinical step in evaluating such patients and at-risk family members. PMID:20082464

  5. A case of neonatal arterial thrombosis mimicking interrupted aortic arch. (United States)

    Gürsu, Hazım Alper; Varan, Birgül; Oktay, Ayla; Özkan, Murat


    Neonatal arterial thrombosis is a very rare entity with clinical findings resembling coarctation of aorta or interrupted aortic arch. A two day-old male newborn was admitted to a different hospital with difficulty in sucking and sleepiness. On echocardiographic examination, a diagnosis of interrupted aortic arch was made and he was treated with prostoglandin E2. When the patient presented to our center, physical examination revealed that his feet were bilaterally cold. The pulses were not palpable and there were ecchymotic regions in the lower extremities. Echocardiography ruled out interrupted aortic arch. Computerized tomographic angiography revealed a large thrombosis and total occlusion of the abdominal aorta. Since there was no response to treatment with tissue plasminogen activator, we performed thrombectomy. Homozygous Factor V Leiden and Methylenetetrahydrofolate reductase mutations were found in this patient. Neonatal aortic thrombosis which is observed very rarely and fatal should be considered in the differential diagnosis of coarctation of aorta and interrupted aortic arch.

  6. Adventitial vasa vasorum arteriosclerosis in abdominal aortic aneurysm.

    Directory of Open Access Journals (Sweden)

    Hiroki Tanaka

    Full Text Available Abdominal aortic aneurysm (AAA is a common disease among elderly individuals. However, the precise pathophysiology of AAA remains unknown. In AAA, an intraluminal thrombus prevents luminal perfusion of oxygen, allowing only the adventitial vaso vasorum (VV to deliver oxygen and nutrients to the aortic wall. In this study, we examined changes in the adventitial VV wall in AAA to clarify the histopathological mechanisms underlying AAA. We found marked intimal hyperplasia of the adventitial VV in the AAA sac; further, immunohistological studies revealed proliferation of smooth muscle cells, which caused luminal stenosis of the VV. We also found decreased HemeB signals in the aortic wall of the sac as compared with those in the aortic wall of the neck region in AAA. The stenosis of adventitial VV in the AAA sac and the malperfusion of the aortic wall observed in the present study are new aspects of AAA pathology that are expected to enhance our understanding of this disease.

  7. Idiopathic thoracic aortic aneurysm at pediatric age. (United States)

    Marín-Manzano, E; González-de-Olano, D; Haurie-Girelli, J; Herráiz-Sarachaga, J I; Bermúdez-Cañete, R; Tamariz-Martel, A; Cuesta-Gimeno, C; Pérez-de-León, J


    A 6-year-old-boy presented with epigastric pain and vomiting over 1 year. Chest X-ray and esophagogastric transit showed a mediastinal mass. A chest computerized tomography angiogram demonstrated a descending thoracic aortic aneurysm. Analytical determinations carried out were all negative. The aneurysm was surgically repaired using a Dacron patch. The anatomopathological study described atherosclerotic lesions with calcifications, compatible with an atherosclerotic aneurysm wall. Aneurysms are uncommon in the pediatric population. Usually, no pathogenesis can be determined, and thus, such cases are grouped as idiopathic. Direct repair with or without patch is a therapeutic alternative in pediatric aneurysms and can allow the growth of the aortic circumference.

  8. Infective endocarditis following transcatheter aortic valve replacement-

    DEFF Research Database (Denmark)

    Loh, Poay Huan; Bundgaard, Henning; S�ndergaard, Lars


    Transcatheter aortic valve replacement (TAVR) can improve the symptoms and prognosis of patients with severe aortic stenosis who, due to a high expected operative risk, would not have otherwise been treated surgically. If these patients develop prosthetic valve endocarditis, their presentations may...... be atypical causing a delay in the diagnosis and treatment. The management is also complicated by their comorbidities, and surgical treatment may not be feasible leading to a significant morbidity and mortality. We describe a case of an 85-year-old man with TAVI prosthetic valve endocarditis successfully...

  9. Supravalvular aortic stenosis with sudden cardiac death

    Directory of Open Access Journals (Sweden)

    Pradeep Vaideeswar


    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.

  10. [Albert Einstein and his abdominal aortic aneurysm]. (United States)

    Cervantes Castro, Jorge


    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.

  11. Fatal Saccharomyces Cerevisiae Aortic Graft Infection (United States)

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


    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.

  12. Aortic thrombus formation during a Seldinger aortography

    Energy Technology Data Exchange (ETDEWEB)

    Kiermayer, H.


    Acute aortic thrombosis is a rarely described complication of angiography with the technique of arterial catheterization. In the presented case record, a sudden therapy-resistant rise in blood pressure was accompanied by paraplegia of the lower limbs. The activation of the coagulation system caused by the heterogeneous material brought into the aorta, combined with severe arteriosclerosis, is discussed as a possible cause.

  13. Severe aortic valve stenosis and nosebleed

    NARCIS (Netherlands)

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


    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 W

  14. Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia. (United States)

    Shah, Krupa; Shah, Hitesh


    Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia to total absence of the tibia. Several classifications based on radiological description exist in the literature. The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (Werner syndrome) and micromelia-trigonal brachycephaly syndrome. We describe a child with unclassified tibial hemimelia. The child had right incomplete tibial hemimelia with bifid tibia, left complete tibial hemimelia, bilateral split hands and left split foot. This is the first report of the bifid tibia in the literature.

  15. Unoperated aortic aneurysm

    DEFF Research Database (Denmark)

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


    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...... hypertension were predictive of mortality, whereas...

  16. [Nasal respiratory stenosis and maxillary hypoplasia. Changes after orthodontic treatment with rapid palatal expansion]. (United States)

    Piccini, A; Giorgetti, R; Fiorelli, G


    The relationship between hypoplasia of the upper maxillary bone and nasal respiratory insufficiency in a group of twenty infants with malocclusion being treated by rapid maxillary expansion (RME) were studied. Prior to treatment all patients presented endognatia with discrepancies of from -4 to -7 mm in the transverse basal skeleton. These were often associated with adenoid hypertrophy (70% of the cases), increased total nasal resistance (70%), oral respiration (80%) and middle ear diseases (30%). RME led to resolution of occlusion alterations in all cases and often also brought about a regression in adenoid hypertrophy (57% of the cases), normalization of the total nasal resistance (70%) and respiration (80%). These effects were achieved alone without association with any other form of medical or surgical E.N.T. treatment. The functional results confirmed by the radiological and clinical findings indicate an increase in the diameters of the nasal fossa and in the distance between the canines, between premolars and between molars as well as reduction in adenoid vegetation and in the diffuse hypertrophic tissues lining the naso-pharyngeal space. Nonetheless, hypoplasia of the upper maxillary bone and nasal respiratory insufficiency remain strictly linked and are bound to a variable, and at times uncertain, cause-effect relationship. Is nasal stenosis the moving force of maxillary-mandibular dysmorphism and gnatological dysfunction or does it result from an overall genetic conditioning of facial skeleton development? During their vast experience in adenoid and metadenoid pathologies in infancy the authors have, at times, observed significant maxillo-facial dysmorphisms. They have likewise found that "facies adenoidea" were not always associated with hypertrophy of the pharyngeal tonsil.(ABSTRACT TRUNCATED AT 250 WORDS)

  17. Subcoronary versus supracoronary aortic stenosis. an experimental evaluation

    Directory of Open Access Journals (Sweden)

    Hasenkam J Michael


    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

  18. A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft

    Directory of Open Access Journals (Sweden)

    Miyake T


    Full Text Available Tomoko Miyake,1 Shota Kojima,1 Tetsuya Sugiyama,2 Mari Ueki,1 Jun Sugasawa,1 Hidehiro Oku,1 Kensuke Tajiri,1 Yuka Shigemura,3 Koichi Ueda,3 Atsuko Harada,4 Mami Yamasaki,4 Takumi Yamanaka,4 Hidetsuna Utsunomiya,5 Tsunehiko Ikeda1 1Department of Ophthalmology, Osaka Medical College, Takatsuki City, 2Nakano Eye Clinic of Kyoto Medical Co-operative, Kyoto, 3Department of Plastic and Reconstructive Surgery, Osaka Medical College, Takatsuki City, 4Department of Pediatric Neurosurgery, Takatsuki General Hospital, Takatsuki City, 5Department of Radiological Science, International University of Health and Welfare, Graduate School, Fukuoka, Japan Introduction: The incidence of facial cleft is rare and ranges between 1.43 and 4.85 per 100,000 births. To date, there have been few reports of detailed ophthalmologic examinations performed in cases of facial cleft. Here, we report a case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. Case report: A 9-day-old female infant was delivered by cesarian section at 34 weeks of gestational age (the second baby of twins and weighed 2,276 g upon presentation. She had a facial cleft and ectrodactyly at birth. Right eye-dominant blepharophimosis was obvious. Examination of the right eye revealed inferior corneal opacity with vascularization, downward corectopia, and optic-nerve hypoplasia. The corneal diameter was 8 mm in both eyes, and tonometry by use of a Tono-Pen® XL (Reichert Technologies, Depew, NY, USA handheld applanation tonometer revealed that her intraocular pressure was 11–22 mmHg (Oculus Dexter and 8 mmHg (Oculus Sinister. B-mode echo revealed no differences in axial length between her right and left eyes. When she was 15–16 months old, we attempted to examine her eyes before she underwent plastic surgery under general anesthesia. She had a small optic disc in both eyes and the right-eye disc was tilted. After undergoing canthotomy, gonioscopy and ultrasound

  19. Post-stenotic aortic dilatation

    Directory of Open Access Journals (Sweden)

    Jahangiri Marjan


    Full Text Available Abstract Aortic stenosis is the most common valvular heart disease affecting up to 4% of the elderly population. It can be associated with dilatation of the ascending aorta and subsequent dissection. Post-stenotic dilatation is seen in patients with AS and/or aortic regurgitation, patients with a haemodynamically normal bicuspid aortic valve and following aortic valve replacement. Controversy exists as to whether to replace the aortic root and ascending aorta at the time of aortic valve replacement, an operation that potentially carries a higher morbidity and mortality. The aetiology of post-stenotic aortic dilatation remains controversial. It may be due to haemodynamic factors caused by a stenotic valve, involving high velocity and turbulent flow downstream of the stenosis, or due to intrinsic pathology of the aortic wall. This may involve an abnormality in the process of extracellular matrix remodelling in the aortic wall including inadequate synthesis, degradation and transport of extracellular matrix proteins. This article reviews the aetiology, pathology and management of patients with post-stenotic aortic dilatation.

  20. Ascending aortic wall cohesion: comparison of bicuspid and tricuspid valves. (United States)

    Benedik, Jaroslav; Pilarczyk, Kevin; Wendt, Daniel; Indruch, Jiri; Flek, Radek; Tsagakis, Konstantinos; Alaeddine, Savvas; Jakob, Heinz


    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 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.

  1. First-in-man transcatheter aortic valve implantation of a 20-mm Edwards SAPIEN XT valve: one step forward for the treatment of patients with severe aortic stenosis and small aortic annulus. (United States)

    Rodés-Cabau, Josep; DeLarochellière, Robert; Dumont, Eric


    We present the case of an 85-year-old woman diagnosed with severe aortic stenosis, porcelain aorta, and a small aortic annulus (17.3 mm), who underwent successful transfemoral transcatheter aortic valve implantation (TAVI) with a 20-mm Edwards SAPIEN XT valve using the NovaFlex+ delivery system. At 1-month follow-up the patient was in NYHA functional class I, and Doppler echocardiography showed a mean residual gradient of 15 mm Hg and trivial paravalvular aortic regurgitation. This case, which shows for the first time the feasibility of TAVI with a 20-mm valve, opens a new avenue for the challenging treatment of patients with aortic stenosis and a small aortic annulus.

  2. Histopathological study of congenital aortic valve malformations in 32 children

    Institute of Scientific and Technical Information of China (English)

    HUANG Ping; WANG Hongwei; LI Yanping; CHENG Peixuan; LIU Qingjun; ZHANG Zhenlu; LIU Jianying


    The histopathological characteristics of congenital aortic valve malformations in children were investigated.All the native surgically excised aortic valves from 32 pediatric patients suffering from symptomatic aortic valve dysfunction due to congenital aortic valve malformations between January 2003 and December 2005 were studied macroscopically and microscopically.The patients' medical records were reviewed and the clinical information was extracted.The diagnosis was made by the clinical presentation,preoperative echocardiography,intraoperative examination,and postoperative histopathological study,excluding rheumatic ot degenerative aortic valve diseases,infective endocarditis and primary connective tissue disorders,e.g.Marfan syndrome.Among 32 children with congenital aortic valve malformations,the age was ranged from six to 18 years,with a mean of 14.9 years,and there were 27 boys and five girls (male:female = 5.4:1).There were five cases of aortic stenosis (AS,15.62%),25 cases of aortic insufficiency (AI,78.13 %)and two cases of AS-AI (6.25%),without other valve diseases.Twenty cases still had other congenital heart diseases:ventricular septal defect (19 cases),patent ductus arteriosus (two cases),double-chambered right ventricle (one case),aneurysm of the right anterior aortic sinus of valsalva (three cases).Histopathological examination indicated that the cusps became thickening with unequal size,irregular shape (coiling and prolapse edge),enhanced hardness,and partly calcification.Microscopic investigation revealed the unsharp structure of valve tissue,fibrosis,myxomatous,reduced collagen fiber,rupture of elastic fibers,different degrees of infiltration of inflammatory cells,secondary calcareous and lipid deposit,and secondary fibrosis.Congenital aortic valve malformations in children involve males more than females,mostly associated with other congenital heart diseases.Aortic insufficiency is more common in children with congenital aortic valve

  3. Weight reduction and aortic stiffness in obese children and adolescents

    DEFF Research Database (Denmark)

    Hvidt, K. N.; Olsen, M. H.; Ibsen, H.


    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...... (%): beta = 0.7, 95% CI 0.1-1.3, P = 0.02) when adjusted for gender and relevant baseline confounders. In conclusion, no clear effect of weight reduction was found on aortic stiffness, although changes in AIx@HR75 were associated with changes in both abdominal fat and total body fat percent. The higher cf...

  4. Autologous adventitial overlay method reinforces anastomoses in aortic surgery. (United States)

    Minato, Naoki; Okada, Takayuki; Sumida, Tomohiko; Watanabe, Kenichi; Maruyama, Takahiro; Kusunose, Takashi


    In this study, we present an inexpensive and effective method for providing a secure and hemostatic anastomosis using autologous adventitia obtained from a dissected or aneurysmal wall. The resected aortic wall is separated between the adventitia and media, and a soft, 2 × 10-cm adventitial strip is overlaid to cover the anastomotic margin. A graft is sutured to the aortic stump. This autologous adventitial overlay method can inexpensively and strongly reinforce the anastomosis during aortic surgery for dissection or aneurysm and will contribute to anastomotic hemostasis and long-term stability.

  5. Minimally Invasive Mitral Valve Replacement and Transfemoral Aortic Valve Implantation. (United States)

    Rustenbach, Christian; Baumbach, Hardy; Hill, Stephan; Franke, Ulrich F W


    The case is reported of a symptomatic elderly patient with severe mitral regurgitation, severe aortic valve stenosis, and coronary heart disease. The coronary artery disease had been interventionally treated four years previously with stent implantation into the right coronary artery. Published studies have shown that a combination of mitral and aortic valve surgery is associated with a significantly increased risk of mortality and morbidity, particularly in elderly patients. In the present patient, both valvular malformations were successfully treated with a single-step interdisciplinary approach, namely an initial surgical mitral valve replacement followed by transfemoral transcatheter aortic valve replacement.

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

    Directory of Open Access Journals (Sweden)

    Costa Mario Gesteira


    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.

  7. Tobacco smoking and aortic aneurysm

    DEFF Research Database (Denmark)

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


    General Population Study, respectively. According to the magnitude of the hazard ratios, tobacco consumption was the most important risk factor for hospitalization and death from aortic aneurysm, followed by male sex and hypertension in both cohorts. The population attributable risk of aortic aneurysm...... outcomes due to tobacco consumption was 64% and 47% in the Copenhagen City Heart Study and Copenhagen General Population Study, respectively, and ranked highest among population attributable risks of aortic aneurysm in both cohorts. The absolute 10-year risk for hospitalization or death from aortic......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...

  8. Intramural aortic hematomas; Intramurale Haematome der Aorta

    Energy Technology Data Exchange (ETDEWEB)

    Raab, B.W.; Vosshenrich, R.; Fischer, U.; Funke, M.; Grabbe, E. [Goettingen Univ. (Germany). Abt. fuer Roentgendiagnostik


    Intramural hematomas (IMH) are regarded as a hemorrhage into the aortic wall. In general a traumatic form can be differentiated from a spontaneous non-traumatic. There is a predisposition of IMH with arterial hypertension and mesoectodermal dysplastic syndromes. The diagnosis is established with the clinical presentation in combination with the findings of different imaging modalities. Acute and subacute discomfort associated with a tendency of collaps are considered as typical presenting complaints. A semicircular or concentric thickening of the aortic wall with the absence of blood flow or a dissection membran are typical findings in transesophageal echocardiography, computed tomography and magnetic resonance tomography. From a differential diagnostic point of view a distinction from atherosclerotic wall changes, intraluminal thrombi and inflammatory aortic diseases is essential. The IMH is considered as an early presentation of aortic dissection, put into and treated according to the Stanford classification. In the course of natural history an IMH can disappear, rupture or progress into a classic aortic dissection. (orig.) [German] Das intramurale Haematom (IMH) ist eine Einblutung in die Aortenwand. Grundsaetzlich kann zwischen traumatischer Genese und einer atraumatischen spontanen Form unterschieden werden. Praedisponierend sind arterielle Hypertension und mesoektodermale Dysplasiesyndrome. Die Diagnose ergibt sich aus der Klinik und den Befunden in den bildgebenden Verfahren. Zu den klinischen Symptomen zaehlen akut oder subakut auftretende Schmerzen, assoziiert mit einer Kollapsneigung. Typische Befunde in der transoesophagealen Echokardiographie, der Computer- oder der Magnetresonanztomographie sind eine halbmondfoermige oder konzentrische Wandverdickung der Aorta ohne Nachweis von Blutfluss oder einer Dissektionsmembran mit Dichtewerten bzw. Signalintensitaeten in Abhaengigkeit vom Alter der Einblutung. Differenzialdiagnostisch ist eine Abgrenzung

  9. Le Fort II midfacial distraction combined with orthognathic surgery in the treatment of nasomaxillary hypoplasia. (United States)

    Yu, Hongbo; Dai, Jiewen; Wang, Xudong; Zhang, Wenbin; Shen, Steve Guofang


    Patients with nasomaxillary hypoplasia have severe facial concavity and compromised skeletal class III malocclusion. Its treatment is still a challenge to surgeons. Our aim was to evaluate the combination of midfacial distraction and orthognathic surgery in the treatment of nasomaxillary hypoplasia. Four patients with nasomaxillary hypoplasia were enrolled in this study. After Le Fort II osteotomy, the rotational distraction of nasomaxillary complex was performed to rehabilitate facial convexity. Then bilateral sagittal split ramus osteotomy with or without Le Fort I osteotomy was used to correct malocclusion. All patients healed uneventfully, and the maxillae moved forward conspicuously. No obvious pain and severe discomfort were complained during distraction. A significant advancement and downward movement of the maxilla were shown by cephalometric analysis. The combination of midfacial distraction and orthognathic surgery provides us an ideal alternative in the treatment of nasomaxillary hypoplasia.

  10. Congenital hypoplasia of the lumbar pedicle with spondylolisthesis: report of 2 cases. (United States)

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


    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.

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

  12. Prenatal prediction of pulmonary hypoplasia: clinical, biometric, and Doppler velocity correlates

    NARCIS (Netherlands)

    J.A.M. Laudij (Jacqueline); D. Tibboel (Dick); S.G.F. Robben (Simon); R.R. de Krijger (Ronald); M.A.J. de Ridder (Maria); J.W. Wladimiroff (Juriy)


    textabstractOBJECTIVES: To determine the value of pulmonary artery Doppler velocimetry relative to fetal biometric indices and clinical correlates in the prenatal prediction of lethal lung hypoplasia (LH) in prolonged (>1 week) oligohydramnios. METHODS: Forty-two singleton pregnanc

  13. Enlargement of the aortic annulus during aortic valve replacement: a review. (United States)

    Bortolotti, Uberto; Celiento, Michele; Milano, Aldo D


    The main goal of aortic valve replacement (AVR) is to obtain relief from the fixed left ventricular (LV) obstruction by replacing the aortic valve with a prosthesis, either mechanical or biological, of adequate size. Most currently available prostheses provide satisfactory hemodynamic performance, but small-sized prostheses may be associated with high transvalvular gradients and suboptimal effective orifice area that result in prosthesis-patient mismatch (PPM), and thus are far from ideal for use in young, active patients. The avoidance of PPM is advisable as it has been repeatedly associated with increased mortality, decreased exercise tolerance and an impaired regression of LV hypertrophy after AVR for severe aortic stenosis. Enlargement of the aortic annulus (EAA) has proved to be a valuable method to prevent PPM in the presence of a diminutive aortic root. This review outlines the various techniques described for EAA, presenting technical details, long-term results and major procedure-related complications, and discussing the current role of EAA in patients requiring AVR.

  14. Anatomical vertebral artery hypoplasia and insufficiency impairs dynamic blood flow regulation. (United States)

    Sato, Kohei; Yoneya, Marina; Otsuki, Aki; Sadamoto, Tomoko; Ogoh, Shigehiko


    Recent studies have suggested that vertebral artery (VA) hypoplasia is a predisposing factor for posterior cerebral stroke. We examined whether anatomical vertebrobasilar ischemia, i.e., unilateral VA hypoplasia and insufficiency, impairs dynamic blood flow regulation. Twenty-eight female subjects were divided into three groups by defined criteria: (i) unilateral VA hypoplasia (n = 8), (ii) VA insufficiency (n = 6), and (iii) control (n = 14). Hypoplastic VA criterion was VA blood flow of 40 ml min(-1) , whereas VA insufficiency criterion was net (left + right) VA blood flow of 100 ml min(-1) or less. We evaluated left, right, and net VA blood flows by ultrasonography during hypercapnia, normocapnia, and hypocapnia to evaluate VA CO2 reactivity. The unilateral VA hypoplasia group showed lower CO2 reactivity at hypoplastic VA than at non-hypoplastic VA (2.65 ± 0.58 versus 3.00 ± 0.48% per mmHg, P = 0.027) and net VA CO2 reactivity was preserved (Unilateral VA hypoplasia, 2.95 ± 0.48 versus Control, 2.93 ± 0.42% per mmHg, P = 0.992). However, the VA insufficiency group showed a lower net VA CO2 reactivity compared to the control (2.29 ± 0.55 versus 2.93 ± 0.42% per mmHg, P = 0.032) and the unilateral VA hypoplasia (P = 0.046). VA hypoplasia reduced CO2 reactivity, although non-hypoplastic VA may compensate this regulatory limitation. In subjects with VA insufficiency, lowered CO2 reactivity at the both VA could not preserve normal net VA CO2 reactivity. These findings provide a possible physiological mechanism for the increased risk of posterior cerebral stroke in subjects with VA hypoplasia and insufficiency.

  15. Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies. (United States)

    Golden, Eleza T; Alazraki, Adina; Loewen, Jonathan; Braithwaite, Kiery


    Sternal cleft anomalies are rare. Associated anomalies include pentalogy of Cantrell and posterior fossa abnormalities, hemangiomas, arteriopathy, cardiac anomalies, eye abnormalities, and sternal defects syndrome. There is only a single report of complete sternal cleft, pectus excavatum, and right clavicular hypoplasia in an adult. Thyroid hemiagenesis is also very rare. To our knowledge, this is the first case of complete sternal cleft, pectus deformity, and right clavicular hypoplasia in a child and the first case with right thyroid hemiagenesis.

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

    Directory of Open Access Journals (Sweden)

    Kobra Shiasi Arani


    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

  17. CT of thoracic aortic aneurysms. (United States)

    Posniak, H V; Olson, M C; Demos, T C; Benjoya, R A; Marsan, R E


    Aneurysms of the thoracic aorta are most often the result of arteriosclerotic disease. Other causes include degeneration of the medial layer of the aortic wall, either idiopathically or due to genetic disorders such as Marfan syndrome; aortic dissection; trauma; syphilis and other bacterial infection; noninfective aortitis; and congenital anomaly. We review normal anatomy of the aorta and discuss our technique and interpretation of computed tomography (CT) in the evaluation of the thoracic aorta. We illustrate the CT appearance of different types of aortic aneurysms as well as discuss the use of CT for assessing complications of aneurysms, for postoperative follow-up, and in the differentiation of aortic aneurysm from a paraaortic mass.

  18. Micromanaging Abdominal Aortic Aneurysms

    Directory of Open Access Journals (Sweden)

    Lars Maegdefessel


    Full Text Available The contribution of abdominal aortic aneurysm (AAA disease to human morbidity and mortality has increased in the aging, industrialized world. In response, extraordinary efforts have been launched to determine the molecular and pathophysiological characteristics of the diseased aorta. This work aims to develop novel diagnostic and therapeutic strategies to limit AAA expansion and, ultimately, rupture. Contributions from multiple research groups have uncovered a complex transcriptional and post-transcriptional regulatory milieu, which is believed to be essential for maintaining aortic vascular homeostasis. Recently, novel small noncoding RNAs, called microRNAs, have been identified as important transcriptional and post-transcriptional inhibitors of gene expression. MicroRNAs are thought to “fine tune” the translational output of their target messenger RNAs (mRNAs by promoting mRNA degradation or inhibiting translation. With the discovery that microRNAs act as powerful regulators in the context of a wide variety of diseases, it is only logical that microRNAs be thoroughly explored as potential therapeutic entities. This current review summarizes interesting findings regarding the intriguing roles and benefits of microRNA expression modulation during AAA initiation and propagation. These studies utilize disease-relevant murine models, as well as human tissue from patients undergoing surgical aortic aneurysm repair. Furthermore, we critically examine future therapeutic strategies with regard to their clinical and translational feasibility.

  19. Minimally invasive aortic valve replacement - pros and cons of keyhole aortic surgery. (United States)

    Kaczmarczyk, Marcin; Szałański, Przemysław; Zembala, Michał; Filipiak, Krzysztof; Karolak, Wojciech; Wojarski, Jacek; Garbacz, Marcin; Kaczmarczyk, Aleksandra; Kwiecień, Anna; Zembala, Marian


    Over the last twenty years, minimally invasive aortic valve replacement (MIAVR) has evolved into a safe, well-tolerated and efficient surgical treatment option for aortic valve disease. It has been shown to reduce postoperative morbidity, providing faster recovery and rehabilitation, shorter hospital stay and better cosmetic results compared with conventional surgery. A variety of minimally invasive accesses have been developed and utilized to date. This concise review demonstrates and discusses surgical techniques used in contemporary approaches to MIAVR and presents the most important results of MIAVR procedures.

  20. Minimally invasive aortic valve replacement – pros and cons of keyhole aortic surgery (United States)

    Szałański, Przemysław; Zembala, Michał; Filipiak, Krzysztof; Karolak, Wojciech; Wojarski, Jacek; Garbacz, Marcin; Kaczmarczyk, Aleksandra; Kwiecień, Anna; Zembala, Marian


    Over the last twenty years, minimally invasive aortic valve replacement (MIAVR) has evolved into a safe, well-tolerated and efficient surgical treatment option for aortic valve disease. It has been shown to reduce postoperative morbidity, providing faster recovery and rehabilitation, shorter hospital stay and better cosmetic results compared with conventional surgery. A variety of minimally invasive accesses have been developed and utilized to date. This concise review demonstrates and discusses surgical techniques used in contemporary approaches to MIAVR and presents the most important results of MIAVR procedures. PMID:26336491

  1. Transcatheter Aortic Valve Replacement in Bicuspid Aortic Valve Disease

    DEFF Research Database (Denmark)

    Mylotte, Darren; Lefevre, Thierry; Søndergaard, Lars


    BACKGROUND: Limited information exists describing the results of transcatheter aortic valve (TAV) replacement in patients with bicuspid aortic valve (BAV) disease (TAV-in-BAV). OBJECTIVES: This study sought to evaluate clinical outcomes of a large cohort of patients undergoing TAV-in-BAV. METHODS...

  2. Apyrexic Brucella melitensis aortic valve endocarditis. (United States)

    al-Mudallal, D S; Mousa, A R; Marafie, A A


    The case of a young shepherd with Brucella melitensis aortic valve endocarditis is presented. His illness ran an afebrile course and was also complicated by disseminated intravascular coagulation (DIC), nephritis, hepatitis and peritonitis, all of which responded well to supportive measures and a combination of tetracycline, trimethoprim-sulphamethoxazole and amikacin sulphate. The fact that even the most severe case of brucellosis can present without fever is stressed.

  3. Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1. (United States)

    Toelle, Sandra P; Poretti, Andrea; Weber, Peter; Seute, Tatjana; Bromberg, Jacoline E C; Scheer, Ianina; Boltshauser, Eugen


    Unidentified bright objects (UBO) and tumors are well-known cerebellar abnormalities in neurofibromatosis type 1 (NF1). Literature reports on malformative cerebellar anomalies in neurofibromatosis type 1 (NF1), however, are scant. We retrospectively studied the clinical and neuroimaging findings of 5 patients with NF1 (4 females, age 6 to 29 years at last follow-up) and cerebellar anomalies. Cerebellar symptoms on neurological examination were mild or even not evident whereas learning disabilities were more or less pronounced in four patients. Two patients had cerebellar hypoplasia (diffusely enlarged cerebellar interfoliar spaces) and three cerebellar dysmorphias involving mainly one cerebellar hemisphere. In NF1, malformative cerebellar anomalies are rare (estimated prevalence of about 1%), but most likely underestimated and easily overlooked, because physicians tend to focus on more prevalent, obvious, and well-known findings such as optic pathway gliomas, other tumors, and UBO. This kind of cerebellar anomaly in NF1 has most likely a malformative origin, but the exact pathogenesis is unknown. The individual clinical significance is difficult to determine. We suggest that cerebellar anomalies should be systematically evaluated in neuroimaging studies of NF1 patients.

  4. CT and MRI of aortic coarctation: pre- and postsurgical findings. (United States)

    Karaosmanoglu, Ali Devrim; Khawaja, Ranish Deedar Ali; Onur, Mehmet Ruhi; Kalra, Mannudeep K


    OBJECTIVE. The purpose of this article is to summarize the roles of CT and MRI in the diagnosis and follow-up of patients with aortic coarctation. CONCLUSION. Aortic coarctation is a common congenital heart disease accounting for approximately 6-8% of congenital heart defects. Despite its deceptively simple anatomic presentation, it is a complex medical problem with several associated anatomic and physiologic abnormalities. CT and MRI may provide very accurate information of the coarctation anatomy and other associated cardiac abnormalities.

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

    DEFF Research Database (Denmark)

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


    AIMS: To report aortic root geometry by echocardiography in a large population of healthy, asymptomatic aortic stenosis (AS) patients in relation to current vendor-specified requirements for transcatheter aortic valve implantation (TAVI). METHODS AND RESULTS: Baseline data in 1481 patients...... 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......-specified requirements for the aortic root geometry for current available prostheses, CoreValve and Edwards-Sapien. The ratio of sinus of Valsalva height to sinus width was 1:2. In multivariate linear regression analysis, larger sinus of Valsalva height was associated with older age, larger sinus of Valsalva diameter...

  6. Acute type B aortic dissection:update on proper management

    Institute of Scientific and Technical Information of China (English)

    Georgios Geropapas; George Galyfos; Ioannis Stefanidis; Ioannis Stamatatos; Stavros Kerasidis; Sotirios Giannakakis; Georgios Kastrisios; Gerasimos Papacharalampous; Chrisostomos Maltezos


    This study aims to collect and present all current literature data on the diagnostic and therapeutic management of acute typeB aortic dissection.It includes a comprehensive literature search utilizing the following keywords:‘acute aortic dissection’,‘typeB aortic dissection’,‘conservative management’,‘endovascular repair’,‘open surgery’ and‘diagnosis’.Uncomplicated acute type B aortic dissection can be effectively managed using conservative management, although open repair is indicated only for complicated cases.Endovascular repair shows promising results in selected patients with increased perioperative risk and without contraindications.Recent evidence supports endovascular repair even in uncomplicated cases, although more data on long-term outcomes are needed.Early risk stratification and evaluation of the patient is crucial for selection of optimal management.


    Institute of Scientific and Technical Information of China (English)

    管珩; 郑月宏; 李拥军; 刘昌伟; 刘暴; 叶炜


    Objective. To describe our surgical experience on rupture of abdominal aortic aneurysm .Methods. Two cases of ruptured aortic aneurysms with severe complication were analyzed. Aorta re-construction procedures were performed using bifurcated e-PTFE grafts during emergency operation. Diag-nosis, preoperative resuscitation, emergency surgical intervention, and postoperative complications of thesepatients were summarized and discussed.Results. Rupture of aortic aneurysm in both patients presented as a huge retroperitoneum haematomaby computed tomography scan. They were successfully saved by prompt body fluid compensation, emer-gency procedure, intraoperative resuscitation, and postoperative intensive care.Conclusions. Correct diagnosis, prompt surgical management, immediate intraoperative proximal aortaclamping during procedure, and effective management of postoperative complications were the key pointsto successful treatment of ruptured aortic aneurysm.

  8. Unexpected death caused by rupture of a dilated aorta in an adult male with aortic coarctation. (United States)

    Leth, Peter Mygind; Knudsen, Peter Thiis


    Aortic coarctation (AC) is a congenital aortic narrowing. We describe for the first time the findings obtained by unenhanced post mortem computed tomography (PMCT) in a case where the death was caused by cardiac tamponade from a ruptured aneurysmal dilatation of the ascending aorta and the aortic arch without dissection combined with aortic coarctation. The patient, a 46-year-old man, was found dead at home. PMCT showed haemopericardium and dilatation of the ascending aorta and the aortic arch. This appearance led to the mistaken interpretation that the images represented a dissecting aneurysm. The autopsy showed instead a thin-walled and floppy dilatation of the ascending aorta and aortic arch with a coarctation just proximal to the ligamentum arteriosum. A longitudinal tear was found in the posterior aortic wall just above the valves. Blood in the surrounding soft tissue intersected with a large haematoma (1000ml) in the pericardial sac. Cardiac hypertrophy (556g) was observed in the patient, though no other cardiovascular abnormalities were found. Histological analysis showed cystic medial necrosis of the ascending aortic wall. A ruptured aneurysmal dilatation of the ascending aorta and the aortic arch without aortic dissection associated with AC is an uncommon cause of haemopericardium that has only been described a few times before. The case is discussed in relation to other reported cases and in the context of the present understanding of this condition.

  9. The Perceval S Aortic Valve Implantation in Patients with Porcelain Aorta; is this Ideal Option? (United States)

    Baikoussis, Nikolaos G; Dedeilias, Panagiotis; Prappa, Efstathia; Argiriou, Michalis


    We would like to present in this paper a patient with severe aortic valve stenosis referred to our department for surgical aortic valve replacement. In this patient, it was intraoperatively detected an unexpected heavily calcified porcelain ascending aorta. We present the treatment options in this situation, the difficulties affronted intraoperatively, the significance of the preoperative chest computed tomography scan and the use of the Perceval S aortic valve as ideal bioprosthesis implantation. This is a self-expanding, self-anchoring, and sutureless valve with a wide indication in all patients requiring aortic bioprosthesis. PMID:28074827

  10. Ischemic stroke secondary to aortic dissection following rifle butt recoil chest injury: a case report. (United States)

    Rao, Mamatha; Panduranga, Prashanth; Al-Mukhaini, Mohammed; Al-Jufaili, Mahmood; Valiath, John


    Ischemic stroke secondary to aortic dissection is not uncommon. We present a patient with left hemiplegia secondary to Stanford type A aortic dissection extending to the supra-aortic vessels, which was precipitated by rifle butt recoil chest injury. The diagnosis of aortic dissection was delayed due to various factors. Finally, the patient underwent successful Bentall procedure with complete resolution of symptoms. This case emphasizes the need for caution in the use of firearms for recreation and to take precautions in preventing such incidents. In addition, this case illustrates the need for prompt cardiovascular physical examination in patients presenting with stroke.

  11. Left ventricular outflow tract pseudoaneurysm formation following three aortic valve replacement surgeries

    Directory of Open Access Journals (Sweden)

    Nasrien E Ibrahim


    Full Text Available We present a case of a pseudoaneurysm arising from the left ventricular outflow tract/aortic root as a complication of aortic valve surgery. A 45-year-old Nigerian female presented to our institution′s emergency department with chest discomfort. She had three bioprosthetic aortic valve replacements in the preceding year at an outside institution for aortic regurgitation and wanted a second opinion on remaining surgical options. The learning points relevant to this case are as follows: (1 Recognizing potential complications postmultiple valve surgeries, (2 screening patients for chronic infections and rheumatologic conditions that can contribute to failed valve surgeries.

  12. Abdominal aortic aneurysm surgery

    DEFF Research Database (Denmark)

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


    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....

  13. Paraplegia after aortic and superior mesenteric artery stenting for occlusive disease. (United States)

    Hans, Sachinder S; Ngo, William; McAllister, Michael


    Paraplegia after endovascular therapy for aortic and visceral artery occlusive disease is an extremely uncommon occurrence. Two cases of paraplegia after placement of an aortic covered stent for infrarenal aortic stenosis and a superior mesenteric artery stent for chronic visceral ischemia are presented. In both patients, embolization of the arterial supply to the spinal cord was the presumed cause. One patient had a slight recovery after intense physical therapy and rehabilitation. The second patient did not have any recovery from her paraplegia.

  14. Chronic atrial fibrillation in presence of aortic stenosis in a patient with polysplenia syndrome. (United States)

    Bronte, E; Trovato, Rl; Di Miceli, R; Sucato, V; Candela, P; Brancatelli, G; Novo, S


    We report a rare case of "situs viscerum ambiguous" with polysplenia syndrome, in a 69 year old female patient with aortic stenosis and chronic atrial fibrillation. The presenting symptom was dyspnoea on moderate exertion and an ECG showed supra ventricular arrhythmia. Patients trans-thoracic echocardiogram revealed a dilated left atrium, reduced ejection fraction, mild tricuspid regurgitation, moderate-severe pulmonary hypertension and severe aortic stenosis. The patient was successfully treated with a replacement of her aortic valve and ascending aorta.

  15. 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)


    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.)

  16. 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


    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...

  17. [Aortic valve replacement for the small aortic annulus]. (United States)

    Oshima, H; Usui, A; Akita, T; Ueda, Y


    Aortic valve surgery for the small aortic annulus is still challenging for surgeons. Recently, the new types of high performance prosthesis have been developed and the chance of an aortic root enlargement (ARE) is decreasing. In this study, we propose the ideal strategy of the aortic surgery for the small aortic annulus. We analyzed the clinical records of 158 patients who underwent aortic valve replacement from August 1999 to October 2005 in our institution. The small aortic annulus was observed in 38 patients (24%). Fourteen patients of this group underwent ARE. Patient-prosthesis mismatch (PPM) was less frequently observed in patients with ARE compared to those without ARE. The additional time required for ARE was not considerable, and neither ischemic time nor cardiopulmonary bypass time was significantly prolonged by ARE. In conclusion, we have to select a prosthesis with sufficient orifice area to avoid PPM, otherwise we should choose an option of ARE. For this consideration, we definitely need the chart that demonstrates the relationship between the nominal size of various types of prostheses and the size of a patient's annulus that those prostheses actually fit.

  18. 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


    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.

  19. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). (United States)

    Bree, Alanna F; Grange, Dorothy K; Hicks, M John; Goltz, Robert W


    Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. At birth, the affected areas of skin are typically erythematous and fragile. The hallmark cutaneous features, which vary widely due to mosacism and X-inactivation, include the previously described skin changes of asymmetric Blaschko-linear and reticulated atrophy, pigmentary changes, and telangectasias. Lipomatous changes and papillomas as characteristically defined were reported in the majority of patients. A newly recognized skin finding was progressive hyperpigmented freckling that occurred within the hypopigmented areas which were noted to be photosensitive. Many patients also had a pebbly texture to the central face, dorsal hands and feet. Punctate erosions within the atrophic areas and hypohidrosis were also common. Most had patchy alopecia and many had diffusely thin hair. Scanning electron microscopy of the hair shafts revealed abnormalities in the majority of participants with several different features identified, including atrophic hairs with reduced diameters, markedly flattened hairs as noted in cross-sectional views, trichorrhexis nodosa, pili torti, and pili trianguli et canaliculi. Nail changes included V-nicking and longitudinal ridging of the nail plate, in addition to micronychia. Early recognition of the dermatologic features, in addition to the variable but universal limb anomalies, of Goltz syndrome will allow early and accurate diagnosis without the need for extensive diagnostic studies, while also allowing for accurate prognosis and appropriate genetic counseling.

  20. Dental enamel Hypoplasia. Investigations on the Bones Exhumed from the Medieval Necropole of Lozova (Republic of Moldova, XIVth–XVth Centuries

    Directory of Open Access Journals (Sweden)

    Robert Daniel Simalcsik


    Full Text Available Dental hypoplasia is a developmental anomaly based on perturbations of amelogenesis. Hypoplasia defects are part of the unspecific quantitative indicators for the state of health and / or nutritional state during the formation of the dental buds. It is a response of the human organism to physiological stress. The incidence of this dysplasia in a past population can indicate its biological frailty in its attempt to adapt to the environmental changes. The osteological material was excavated in the interval 2010 – 2011 by archaeologists from the Archaeology Centre in Chisinau, from the Medieval cemetery of Lozova (Straseni County, Republic of Moldova, dated for the XIVth and XVth centuries. Fifty one skeletons from 50 inhumation graves have been excavated and analyzed so far. Only 40 individuals had most of their teeth present. The enamel hypoplasia is of linear transversal type, located on the labial surface of the dental crowns, in the median third. The canine is the most affected tooth, followed by the incisors. The incidence of dental enamel hypoplasia at population level (based on the data collected and on the number of graves excavates so far, which does not illustrate the entire population of the cemetery is 7.5%. The incidence of dental caries is 23.53%, of cribra orbitalia – 11.75%, and of cribra cranii externa – 1.96%. The results obtained for a relatively small rural community illustrate a good adaptation to the stressing environmental factors. The possible malnutrition and illness episodes suffered during early childhood were recovered along the growth and development processes.

  1. Aortic biomechanics in hypertrophic cardiomyopathy (United States)

    Badran, Hala Mahfouz; Soltan, Ghada; Faheem, Nagla; Elnoamany, Mohamed Fahmy; Tawfik, Mohamed; Yacoub, Magdi


    Background: Ventricular-vascular coupling is an important phenomenon in many cardiovascular diseases. The association between aortic mechanical dysfunction and left ventricular (LV) dysfunction is well characterized in many disease entities, but no data are available on how these changes are related in hypertrophic cardiomyopathy (HCM). Aim of the work: This study examined whether HCM alone is associated with an impaired aortic mechanical function in patients without cardiovascular risk factors and the relation of these changes, if any, to LV deformation and cardiac phenotype. Methods: 141 patients with HCM were recruited and compared to 66 age- and sex-matched healthy subjects as control group. Pulse pressure, aortic strain, stiffness and distensibility were calculated from the aortic diameters measured by M-mode echocardiography and blood pressure obtained by sphygmomanometer. Aortic wall systolic and diastolic velocities were measured using pulsed wave Doppler tissue imaging (DTI). Cardiac assessment included geometric parameters and myocardial deformation (strain and strain rate) and mechanical dyssynchrony. Results: The pulsatile change in the aortic diameter, distensibility and aortic wall systolic velocity (AWS') were significantly decreased and aortic stiffness index was increased in HCM compared to control (P < .001) In HCM AWS' was inversely correlated to age(r = − .32, P < .0001), MWT (r = − .22, P < .008), LVMI (r = − .20, P < .02), E/Ea (r = − .16, P < .03) LVOT gradient (r = − 19, P < .02) and severity of mitral regurg (r = − .18, P < .03) but not to the concealed LV deformation abnormalities or mechanical dyssynchrony. On multivariate analysis, the key determinant of aortic stiffness was LV mass index and LVOT obstruction while the role LV dysfunction in aortic stiffness is not evident in this population. Conclusion: HCM is associated with abnormal aortic mechanical properties. The severity of cardiac

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

    Directory of Open Access Journals (Sweden)

    Marta Loureiro


    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.

  3. Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45,X/46,XY mosaicism. (United States)

    Wax, J R; Prabhakar, G; Giraldez, R A; Hutchins, G M; Stetten, G; Blakemore, K J


    The association of urinary anomalies with Turner's syndrome is well established. This report describes an unusual antenatal presentation of this cytogenetic disorder and the first reported case of unilateral renal hypoplasia and contralateral renal agenesis in a 45,X/46,XY fetus. The fetus presented with severe third trimester oligohydramnios and symmetrical intrauterine growth retardation at 29 weeks and 2 days' gestation. Chorionic villus cultures revealed a 45,X karyotype. A phenotypically male infant weighing 1833 g was delivered at 35 weeks and 2 days. Chromosomal analysis of the newborn showed a 45,X/46,XY mosaicism, and surgical exploration revealed absence of the left kidney and a hypoplastic right kidney. The infant died at 11 months of age from renal failure and peritonitis. This case demonstrates that monosomy X may be encountered in fetuses with marked growth delay and oligohydramnios. The etiology of the oligohydramnios in this case was a fetal renal malformation not previously described in Turner's syndrome. Antenatal cytogenetic findings should be confirmed postnatally, with a search for mosaicism, when monosomy X is encountered.

  4. Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene. (United States)

    Milewicz, Dianna; Hostetler, Ellen; Wallace, Stephanie; Mellor-Crummey, Lauren; Gong, Limin; Pannu, Hariyadarshi; Guo, Dong-chuan; Regalado, Ellen


    Almost one-quarter of patients presenting with thoracic aortic aneurysms (TAAs) or acute aortic dissections (TAADs) have an underlying mutation in a specific gene. A subset of these patients will have systemic syndromic features, for example, skeletal features in patients with Marfan Syndrome. It is important to note that the majority of patients with thoracic aortic disease will not have these syndromic features but many will have a family history of the disease. The genes predisposing to these thoracic aortic diseases are inherited in an autosomal dominant manner, and thirteen genes have been identified to date. As the clinical phenotype associated with each specific gene is defined, the data indicate that the underlying gene dictates associated syndromic features. More importantly, the underlying gene also dictates the aortic disease presentation, the risk for dissection at a given range of aortic diameters, the risk for additional vascular diseases and what specific vascular diseases occur associated with the gene. These results lead to the recommendation that the medical and surgical management of these patients be dictated by the underlying gene, and for patients with mutations in ACTA2, the specific mutation in the gene.

  5. 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


    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.

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

    Directory of Open Access Journals (Sweden)

    Han Qing-qi


    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.

  7. Posterior ''Nutcracker'' phenomenon in a patient with abdominal aortic aneurysm

    Energy Technology Data Exchange (ETDEWEB)

    Puig, Stefan [Department of Radiology, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Department of Emergency Medicine, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Stuehlinger, Hermann Georg; Domanovits, Hans [Department of Emergency Medicine, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Staudenherz, Anton [Department of Emergency Medicine, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Department of Nuclear Medicine, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Zebenholzer, Karin [Department of Emergency Medicine, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Department of Neurology, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Rebhandl, Winfried [Department of Surgery, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Prokop, Mathias [Department of Radiology, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria)


    We report on a posterior ''nutcracker'' phenomenon due to an abdominal aortic aneurysm in a patient with a retro-aortic left renal vein. A 71-year-old man with a known abdominal aortic aneurysm presented in the emergency room with mild hematuria and flank pain. Computed tomography angiography revealed an aortic aneurysm, which compressed the left renal vein between the aorta and the vertebral column. Compression of the left renal vein, due to the aorta with consecutive congestion and hematuria as well as flank pain, was previously described as nutcracker phenomenon. In case of a retro-aortic left renal vein, increase of the aortic diameter can lead to compression of the renal vein and furthermore to the classical signs and symptoms of the ''nutcracker'' phenomenon, even though the aneurysm is not ruptured or there are no aorto-caval or aorto-left renal vein fistulas. (orig.)

  8. Acute aortic dissection: be aware of misdiagnosis

    Directory of Open Access Journals (Sweden)

    Asteri Theodora


    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.

  9. MAT2A mutations predispose individuals to thoracic aortic aneurysms. (United States)

    Guo, Dong-chuan; Gong, Limin; Regalado, Ellen S; Santos-Cortez, Regie L; Zhao, Ren; Cai, Bo; Veeraraghavan, Sudha; Prakash, Siddharth K; Johnson, Ralph J; Muilenburg, Ann; Willing, Marcia; Jondeau, Guillaume; Boileau, Catherine; Pannu, Hariyadarshi; Moran, Rocio; Debacker, Julie; Bamshad, Michael J; Shendure, Jay; Nickerson, Deborah A; Leal, Suzanne M; Raman, C S; Swindell, Eric C; Milewicz, Dianna M


    Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but who do not have syndromic features have a family history of thoracic aortic disease. Significant genetic heterogeneity is established for this familial condition. Whole-genome linkage analysis and exome sequencing of distant relatives from a large family with autosomal-dominant inheritance of thoracic aortic aneurysms variably associated with the bicuspid aortic valve was used for identification of additional genes predisposing individuals to this condition. A rare variant, c.1031A>C (p.Glu344Ala), was identified in MAT2A, which encodes methionine adenosyltransferase II alpha (MAT IIα). This variant segregated with disease in the family, and Sanger sequencing of DNA from affected probands from unrelated families with thoracic aortic disease identified another MAT2A rare variant, c.1067G>A (p.Arg356His). Evidence that these variants predispose individuals to thoracic aortic aneurysms and dissections includes the following: there is a paucity of rare variants in MAT2A in the population; amino acids Glu344 and Arg356 are conserved from humans to zebrafish; and substitutions of these amino acids in MAT Iα are found in individuals with hypermethioninemia. Structural analysis suggested that p.Glu344Ala and p.Arg356His disrupt MAT IIα enzyme function. Knockdown of mat2aa in zebrafish via morpholino oligomers disrupted cardiovascular development. Co-transfected wild-type human MAT2A mRNA rescued defects of zebrafish cardiovascular development at significantly higher levels than mRNA edited to express either the Glu344 or Arg356 mutants, providing further evidence that the p.Glu344Ala and p.Arg356His substitutions impair MAT IIα function. The data presented here support the conclusion that rare genetic variants in MAT2A predispose individuals to thoracic aortic disease.

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

    Directory of Open Access Journals (Sweden)

    Pitsis Antonis


    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.

  11. Management of severe asymmetric pectus excavatum complicating aortic repair in a patient with Marfan's syndrome. (United States)

    Yeung, Jonathan C; Marcuzzi, Danny; Peterson, Mark D; Ko, Michael A


    We describe the case of a 28-year old man with Marfan's syndrome and severe pectus excavatum who required an aortic root replacement for an ascending aortic aneurysm. There was a near-vertical angulation of the sternum that presented challenges with opening and exposure of the heart during aortic surgery. Furthermore, removal of the sternal retractor after aortic repair resulted in sudden loss of cardiac output. A Ravitch procedure was then performed to successfully close the chest without further cardiovascular compromise. We propose that patients with a severe pectus excavatum and mediastinal displacement seen on preoperative CT scanning should be considered for simultaneous, elective repair.

  12. Technical tips for abdominal aortic endografting. (United States)

    Murphy, Erin H; Arko, Frank R


    Favorable clinical results combined with increased patient demand for minimally invasive surgery has resulted in an increased application of endovascular aortic aneurysm repair (EVAR), and this treatment modality is now being extended to younger, healthier patients. While it seems that EVAR is becoming a desirable option for many patients, it is essential to realize that the feasibility of the procedure may be limited at times by patient anatomy and technical difficulties. Specific anatomical difficulties can be imposed by difficult access, short tortuous and calcified aortic and iliac landing zones, and presence of coincident complex iliac aneurysms. Renal failure has also presented a concern for patients being considered for treatment with EVAR, as the contrast loads required for the procedure, as well as for continued postoperative surveillance, may place the patient at risk. We will discuss technical maneuvers and considerations when encountering difficult anatomy and challenging surgical procedures.

  13. Glucose Suppresses Biological Ferroelectricity in Aortic Elastin (United States)

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


    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.

  14. Glucose Suppresses Biological Ferroelectricity in Aortic Elastin (United States)

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


    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. PMID:23679639

  15. Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Rocío F. Lopez-Porras


    Full Text Available Focal dermal hypoplasia (FDH is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that the patient was a carrier of FDH. This is the first report in the literature describing that FDH is associated with uterus bicornis and renal ectopia. Our association could be attributable to early embryonic abnormalities related with FDH because both the uterus bicornis and the renal ectopia originate around the 3th–6th week of embryonic development. We are unable to confirm that the miscarriages were caused by inherited FDH or that uterus bicornis was the cause. We conducted a literature review using the following terms: FDH, Goltz syndrome, uterus bicornis, and renal ectopia.

  16. Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. (United States)

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


    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.

  17. Enamel hypoplasias and physiological stress in the Sima de los Huesos Middle Pleistocene hominins. (United States)

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


    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.

  18. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. (United States)

    Guo, Dong-chuan; Regalado, Ellen; Casteel, Darren E; Santos-Cortez, Regie L; Gong, Limin; Kim, Jeong Joo; Dyack, Sarah; Horne, S Gabrielle; Chang, Guijuan; Jondeau, Guillaume; Boileau, Catherine; Coselli, Joseph S; Li, Zhenyu; Leal, Suzanne M; Shendure, Jay; Rieder, Mark J; Bamshad, Michael J; Nickerson, Deborah A; Kim, Choel; Milewicz, Dianna M


    Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic aortic aneurysms and dissections. Exome sequencing of distant relatives affected by thoracic aortic disease and subsequent Sanger sequencing of additional probands with familial thoracic aortic disease identified the same rare variant, PRKG1 c.530G>A (p.Arg177Gln), in four families. This mutation segregated with aortic disease in these families with a combined two-point LOD score of 7.88. The majority of affected individuals presented with acute aortic dissections (63%) at relatively young ages (mean 31 years, range 17-51 years). PRKG1 encodes type I cGMP-dependent protein kinase (PKG-1), which is activated upon binding of cGMP and controls SMC relaxation. Although the p.Arg177Gln alteration disrupts binding to the high-affinity cGMP binding site within the regulatory domain, the altered PKG-1 is constitutively active even in the absence of cGMP. The increased PKG-1 activity leads to decreased phosphorylation of the myosin regulatory light chain in fibroblasts and is predicted to cause decreased contraction of vascular SMCs. Thus, identification of a gain-of-function mutation in PRKG1 as a cause of thoracic aortic disease provides further evidence that proper SMC contractile function is critical for maintaining the integrity of the thoracic aorta throughout a lifetime.

  19. Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association (United States)

    Halwai, Hemant Kumar


    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. PMID:28377826

  20. Isolated Left Ventricular Apical Hypoplasia with Right Ventricular Outflow Tract Obstruction: A Rare Combination. (United States)

    Zhao, Yonghui; Zhang, Jiaying; Zhang, Jing


    Isolated left ventricular (LV) apical hypoplasia is a unusual and recently recognized congenital cardiac anomaly. A 19-year-old man was found to have an abnormal ECG and cardiac murmur identified during a routine health check since joining work. His ECG revealed normal sinus rhythm, right-axis deviation, poor R wave progression, and T wave abnormalities. On physical examination, a 2/6~3/6 systolic murmur was heard at the second intercostal space along the left sternal border. Subsequent echocardiography and cardiac magnetic resonance imaging confirmed the LV apical hypoplasia. Of note, we first found that LV apical hypoplasia was accompanied by RV outflow tract obstruction due to exaggerated rightward bulging of the basal-anterior septum during systole. A close follow-up was performed for the development of heart failure, pulmonary hypertension, and potentially tachyarrhythmia.

  1. Extended aortic valvuloplasty: a new approach for the management of congenital valvar aortic stenosis. (United States)

    Ilbawi, M N; DeLeon, S Y; Wilson, W R; Roberson, D A; Husayni, T S; Quinones, J A; Arcilla, R A


    A new technique for the treatment of congenital valvar aortic stenosis is described. It consists of augmenting the aortic cusp by extending the commissurotomy incision into the aortic wall around the leaflet insertion, mobilizing the valve cusp attachment at the commissures, and freeing the aortic insertion of the rudimentary commissure. The results of standard valvotomy performed on 48 patients (group 1) were compared with those of the new extended valvuloplasty carried out on 16 patients (group 2). The two groups were comparable in age at operation (2.7 +/- 2.1 years for group 1 versus 2.1 +/- 1.7 years for group 2; p = not significant) and in preoperative pressure gradient (58 +/- 25 mm Hg for group 1 versus 61 +/- 36 mm Hg for group 2; p = not significant). There was no operative mortality in either group. Follow-up is available on all patients, with a mean of 4.3 +/- 2.6 years for group 1 versus 1.7 +/- 0.5 years for group 2 (p = 0.05). There was one late death in group 1. Postoperative gradient was 47 +/- 13 mm Hg in group 1 versus 19 +/- 13 mm Hg in group 2 (p = 0.05). Moderate or severe regurgitation was present in 18 patients (38%) in group 1 and 2 patients (13%) in group 2 (p = not significant). Reoperation was needed in 8 patients (17%) in group 1 versus 2 patients (13%) in group 2 (p = not significant). The described valvuloplasty procedure addresses the unique pathological features of valvar aortic stenosis and provides better relief of the obstruction than the presently available techniques. Longer follow-up is needed to determine the late results of this approach.

  2. Diffusion of Alexa Fluor 488-conjugated dendrimers in rat aortic tissue. (United States)

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


    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.

  3. Abdominal aortic aneurysms

    DEFF Research Database (Denmark)

    Lindholt, Jes Sanddal


    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....... 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...... methods for measuring the degree of wall calcification must be developed and validated....


    NARCIS (Netherlands)



    Two patients with a quadricuspid aortic valve are described, one of them with concomitant juxtaposed coronary orifices facing the right hand facing sinus. The etiology and incidence of this congenital anomaly will be discussed.

  5. Transcatheter Aortic Heart Valve Thrombosis

    DEFF Research Database (Denmark)

    Hansson, Nicolaj C; Grove, Erik L; Andersen, Henning R;


    BACKGROUND: There is increasing focus on transcatheter heart valve (THV) thrombosis. However, there are limited data on incidence, clinical implications and predisposing factors of THV thrombosis following transcatheter aortic valve replacement (TAVR). OBJECTIVES: We assessed the incidence...

  6. Adult thoracic and abdominal aortic

    Directory of Open Access Journals (Sweden)

    Randa O. Kaddah


    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.

  7. Minimally invasive aortic valve replacement

    DEFF Research Database (Denmark)

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


    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....... The 30-day mortality rate for the 98 patients was zero, although 14 of the 98 mini-sternotomies had to be converted to complete sternotomies intraoperatively due to technical problems. Such conversion doubled the operative time over that of the planned full sternotomies. In the group of patients whose...... 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...

  8. Bone marrow hypoplasia and intestinal crypt cell necrosis associated with fenbendazole administration in five painted storks. (United States)

    Weber, Martha A; Terrell, Scott P; Neiffer, Donald L; Miller, Michele A; Mangold, Barbara J


    Five painted storks were treated with fenbendazole for 5 days for internal parasitism. Four birds died following treatment. Profound heteropenia was a consistent finding in all samples evaluated; additionally, the 1 surviving bird had progressive anemia. Consistent necropsy findings in the 4 birds that died were small intestinal crypt cell necrosis and severe bone marrow depletion and necrosis. Fenbendazole has been associated with bone marrow hypoplasia and enteric damage in mammals and other species of birds. The dosages of fenbendazole used in birds are often substantially higher than those recommended for mammals, which may contribute to bone marrow hypoplasia and intestinal crypt cell necrosis associated with fenbendazole administration in birds.

  9. 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)


    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.)

  10. Lipopolysaccharide (LPS introduction during growth and development period of rat’s tooth toward the occurrence of enamel hypoplasia

    Directory of Open Access Journals (Sweden)

    Didin Erma Indahyani


    Full Text Available The aim of this study is to know the effect of lipopoly saccharide (LPS induction during growth and development period specifically the occurrence of hypoplasia on tooth enamel. 5 day old male wistar rats divided into two groups. Group 1 (control under went no treatment. Group 2 (treatment under went LPS induction every 24 hour for 8 days on buccal fold right maxillary first molar. After 21 days old the rats were sacrificed and the tooth was resected. Hypoplasia Hypo calcification Index (HHI was used to determine the degree of hypoplasia by clinical examination. Radiograph of maxilla was also taken to analyze the apacities of enamel by using COREL DRAW version 11. The result showed that group under went LPS induction hypoplasia occurred on its molar tooth and more radiolucent than control groups. The conclusion is LPS induction during growth and development period of rats tooth causing enamel hypoplasia.

  11. 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)


    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.)

  12. Use of the Konno procedure in an 80-year-old woman with aortic stenosis, a narrow left ventricular outflow tract, and a small aortic annulus. (United States)

    Misumi, Hiroyasu; Katayama, Yukihiro; Takaji, Kentaro; Oshitomi, Takashi; Uesugi, Hideyuki; Hirayama, Touitsu; Takeuchi, Takamasa


    This report describes a technique for repairing an aortic stenosis in an elderly patient with a small aortic annulus and a narrow left ventricular outflow tract. Preoperative echocardiography in an 80-year-old woman showed severe aortic stenosis with a narrow outflow tract: the aortic valve area was 0.48 cm(2), the aortic annular diameter was 14 mm, and the left ventricular outflow tract diameter was 14 mm. The Konno procedure was used to enlarge both the small aortic annulus and the left ventricular outflow tract, and a 19-mm Carpentier-Edwards bioprosthetic valve was implanted. The patient's postoperative course was uneventful. The left ventricular mass decreased from a preoperative value of 236 g to 96 g, 3 years after surgery. Only a few reports have described the use of the Konno operation in adult patients. In the present case, the Konno operation was demonstrated to be a good option for aortic stenosis accompanied by a small aortic annulus and a narrow left ventricular outflow tract, even in an elderly patient.

  13. Significant mitral regurgitation left untreated at the time of aortic valve replacement: a comprehensive review of a frequent entity in the transcatheter aortic valve replacement era. (United States)

    Nombela-Franco, Luis; Ribeiro, Henrique Barbosa; Urena, Marina; Allende, Ricardo; Amat-Santos, Ignacio; DeLarochellière, Robert; Dumont, Eric; Doyle, Daniel; DeLarochellière, Hugo; Laflamme, Jerôme; Laflamme, Louis; García, Eulogio; Macaya, Carlos; Jiménez-Quevedo, Pilar; Côté, Mélanie; Bergeron, Sebastien; Beaudoin, Jonathan; Pibarot, Philippe; Rodés-Cabau, Josep


    Significant mitral regurgitation (MR) is frequent in patients with severe aortic stenosis (AS). In these cases, concomitant mitral valve repair or replacement is usually performed at the time of surgical aortic valve replacement (SAVR). Transcatheter aortic valve replacement (TAVR) has recently been considered as an alternative for patients at high or prohibitive surgical risk. However, concomitant significant MR in this setting is typically left untreated. Moderate to severe MR after aortic valve replacement is therefore a relevant entity in the TAVR era. The purpose of this review is to present the current knowledge on the clinical impact and post-procedural evolution of concomitant significant MR in patients with severe AS who have undergone aortic valve replacement (SAVR and TAVR). This information could contribute to improving both the clinical decision-making process in and management of this challenging group of patients.

  14. Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

    NARCIS (Netherlands)

    Kasher, P.R.; Namavar, Y.; van Tijn, P.; Fluiter, K.; Sizarov, A.; Kamermans, M.; Grierson, A.J.; Zivkovic, D.; Baas, F.


    Pontocerebellar hypoplasia (PCH) represents a group (PCH1-6) of neurodegenerative autosomal recessive disorders characterized by hypoplasia and/or atrophy of the cerebellum, hypoplasia of the ventral pons, progressive microcephaly and variable neocortical atrophy. The majority of PCH2 and PCH4 cases

  15. Transcatheter aortic valve implantation: role of multi-detector row computed tomography to evaluate prosthesis positioning and deployment in relation to valve function.

    NARCIS (Netherlands)

    Delgado, V.; Ng, A.C.; Veire, N.R. van de; Kley, F. van der; Schuijf, J.D.; Tops, L.F.; Weger, A. de; Tavilla, G.; Roos, A. de; Kroft, L.J.; Schalij, M.J.; Bax, J.J.


    AIMS: Aortic regurgitation after transcatheter aortic valve implantation (TAVI) is one of the most frequent complications. However, the underlying mechanisms of this complication remain unclear. The present evaluation studied the anatomic and morphological features of the aortic valve annulus that m

  16. Iliac branched device implantation in tortuous iliac anatomy after previous open ruptured aortic aneurysm repair

    NARCIS (Netherlands)

    Vourliotakis, G.; Bracale, U. M.; Sondakh, A.; Tielliu, I. F. J.; Prins, T. R.; Verhoeven, E. L. G.


    The aim of this paper was to present iliac branched device (IBD) implantation in a fit 67-year-old man with tortuous iliac anatomy after previous emergent open abdominal aortic aneurysm (AAA) repair. The patient underwent open treatment for a ruptured abdominal aortic aneurysm in another hospital. T

  17. Endograft failure in an adult patient with coarctation and bicuspid aortic valve. (United States)

    Dimarakis, Ioannis; Grant, Stuart; Kadir, Isaac


    A 25-year-old man presented with associated bicuspid aortic valve and coarctation of the aorta. Following aortic valve replacement, he underwent endovascular stenting of his native coarctation. We describe early failure of the latter procedure that necessitated definitive surgical correction.

  18. Staged and hybrid approach in the treatment of complex aortic dissection

    Institute of Scientific and Technical Information of China (English)

    WANG Li-xin; FU Wei-guo; GUO Da-qiao; CHEN Bin; JIANG Jun-hao; YANG Jue; SHI Zhen-yu; WANG Yu-qi


    @@ Multilevel aortic disease presents a formidable challenge for vascular surgeons. In the past, multilevel aortic surgery was performed simultaneously or subsequently. Single-stage intervention is thought to be associated with a high incidence of complications, and sequential repair requires several major surgical interventions.

  19. Salvage Extracorporeal Membrane Oxygenation Prior to "Bridge" Transcatheter Aortic Valve Replacement. (United States)

    Chiu, Peter; Fearon, William F; Raleigh, Lindsay A; Burdon, Grayson; Rao, Vidya; Boyd, Jack H; Yeung, Alan C; Miller, David Craig; Fischbein, Michael P


    We describe a patient who presented in profound cardiogenic shock due to bioprosthetic aortic valve stenosis requiring salvage Extracorporeal Membrane Oxygenation followed by a "bridge" valve-in-valve transcatheter aortic valve replacement. doi: 10.1111/jocs.12750 (J Card Surg 2016;31:403-405).

  20. Intramural hematoma or aortic dissection – a diagnostic and therapeutic problem. A case report (United States)

    Suder, Bogdan; Wasilewski, Grzegorz; Sadowski, Jerzy; Kapelak, Bogusław


    The authors present a case report of a 60-year-old patient with an ascending aortic aneurysm along with the associated diagnostic and therapeutic problems. The choice of therapy in patients with aortic intramural hematoma is difficult and should be based on comprehensive evaluation of the patient's status as well as on the experience of the radiologist and surgeon. PMID:26702280

  1. An unusual case of multiple aortic abnormalities: total occlusion of aortic arch, left external iliac artery, and bicuspid aortic valve in a 21-year-old man. (United States)

    Tanindi, Asli; Tavil, Yusuf; Mutluay, Ruya; Taktak, Hacer; Cengel, Atiye


    An unusual case of total occlusion of aorta just distal to the left subclavian artery, bicuspid aortic valve, and occluded left external iliac artery in a 21-year-old man who was admitted with headache and severe hypertension is presented. We wish to report this case because so far there have been none reported with such multiple aortic abnormalities, although several documented cases of isolated total occlusion of aorta exist. Our patient underwent a successful surgical correction, i.e., patch plasty to the coarcted segment and end to side - end to side aortal-aortal bypass with Dacron graft.

  2. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I. (United States)

    Rath, Rachna; Kaur, Sheetal; Baig, Shadab Ali; Pati, Punyashlok; Sahoo, Sonalisa


    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.

  3. 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


    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.

  4. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. (United States)

    Boczonadi, Veronika; Müller, Juliane S; Pyle, Angela; Munkley, Jennifer; Dor, Talya; Quartararo, Jade; Ferrero, Ileana; Karcagi, Veronika; Giunta, Michele; Polvikoski, Tuomo; Birchall, Daniel; Princzinger, Agota; Cinnamon, Yuval; Lützkendorf, Susanne; Piko, Henriett; Reza, Mojgan; Florez, Laura; Santibanez-Koref, Mauro; Griffin, Helen; Schuelke, Markus; Elpeleg, Orly; Kalaydjieva, Luba; Lochmüller, Hanns; Elliott, David J; Chinnery, Patrick F; Edvardson, Shimon; Horvath, Rita


    The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect in yeast. Here we show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees. Affected individuals have cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system or spinal motor neuron disease. Experimental downregulation of EXOSC8 in human oligodendroglia cells and in zebrafish induce a specific increase in ARE mRNAs encoding myelin proteins, showing that the imbalanced supply of myelin proteins causes the disruption of myelin, and explaining the clinical presentation. These findings show the central role of the exosomal pathway in neurodegenerative disease.

  5. Aneurismas da aorta Aortic aneurysms

    Directory of Open Access Journals (Sweden)

    Januário M Souza


    Full Text Available Entre janeiro de 1979 e janeiro de 1992, foram realizadas 212 operações para correção de aneurismas e de dissecções da aorta. Neste trabalho serão analisados 104 procedimentos cirúrgicos (em 97 pacientes para correção de aneurismas. A idade dos pacientes variou de 14 a 79 anos (média 59,5 anos e o sexo predominante foi o masculino, com 75 pacientes. Os aneurismas localizavam-se na aorta ascendente em 46 pacientes, na croça em 8, na aorta descendente em 8, na aorta toráco-abdominal em 8, na aorta abdominal em 21, na aorta descendente e abdominal em 2, na aorta ascendente e tóraco-abdominal em 2, na aorta ascendente e descendente em 1, na aorta ascendente, croça e descendente em 1. Doenças cardiovasculares associadas estavam presentes em 39 pacientes, sendo valvopatia aórtica em 18 (excluídos os pacientes com ectasiaânulo-aórtíca, insuficiência coronária em 17, coarctação da aorta em 2, persistência do canal arterial em 1 e valvopatia mitral e aórtica em 1. A mortalidade imediata (hospitalar e/ou 30 dias foi de 14,4%, sendo de 27,7% (5/18 para pacientes com mais de 70 anos e de 11,3% (9/79 para pacientes com idade inferior a 70 anos. Os aneurismas localizados na aorta ascendente e croça foram operados como o auxílio de circulação extracorpórea. Parada circulatória e hipotermia profunda foram utilizadas em todos os pacientes com aneurisma da croça. O estudo tomográfico e angiográfico deve ser de toda a aorta, pela possibilidade de aneurismas de localizações múltiplas.Among 212 patients undergoing operation for aortic aneurysm and aortic dissection between January 1979 and January 1992, 97 were operated on for aneurysms. The aneurysms were localized in: ascending aorta in 46 patients, transverse aortic arch in 8, descending aorta in 8, thoracoabdominal aorta in 8, abdominal (infrarenal aorta in 21, descending and abdominal aorta in 2, ascending and thoracoabdominal aorta in 2, ascending and descending in 1

  6. 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. van der; Otten, B.J.


    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 effe

  7. The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. (United States)

    Farag, T I; al-Awadi, S A; Marafie, M J; Bastaki, L; al-Othman, S A; Mohammed, F M; AlSuliman, I S; Murthy, D S


    A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

  8. 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)


    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.)

  9. A Unique Way of Learning: Teaching Young Children with Optic Nerve Hypoplasia (United States)

    Mendiola, Rosalinda; Bahar, Cheryl; Brody, Jill; Slott, Gayle L.


    This booklet was inspired by the need of educators and therapists of preschool students who are blind and visually impaired to share their observations of children with Optic Nerve Hypoplasia (ONH) and the therapies found to be helpful when working with these children. The work done at the Blind Childrens Center is very rewarding, and these…

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

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

  12. Bilateral mandibular distraction in micrognathism or hypoplasia of mandible, hazrat fatemeh hospital

    Directory of Open Access Journals (Sweden)

    Mohammad-Esmaiil Hassani


    Conclusion: The Bilateral Distraction Oseogenesis method can bring forwards the retruded mandible effectively and its results has no difference with older methods. It is an effective and reliable procedure for hypoplasia of Mandible and the results are comparable with older methods.

  13. Left Pulmonary Artery Thrombosis in a Neonate with Left Lung Hypoplasia

    Directory of Open Access Journals (Sweden)

    Matthias P. van Schendel


    Full Text Available Thrombotic events in neonates may origin from fetal life. A 4-day-old newborn infant with a family history of heterozygous type 1 protein C deficiency was diagnosed with left lung hypoplasia and left pulmonary artery thrombosis. Its source was prenatally closed ductus arteriosus. Surgical removal of the thrombus was performed.

  14. On the origin of pontocerebellar hypoplasia: Finding genes for a rare disease

    NARCIS (Netherlands)

    Eggens, V.R.C.


    Pontocerebellar hypoplasia (PCH) is a recessive neurodegenerative disease with, in most cases, a prenatal onset. The patients suffer from severe intellectual and motor impairments. The majority of patients dies in childhood. This thesis describes novel genes and genotype-phenotype correlations in PC

  15. Aortic arch thrombectomy in a 2.8 kilogram neonate--a case report and review of the literature. (United States)

    Omeje, Ikenna; Ram, Awat; Kostolny, Martin


    Aortic arch thrombus is a rare occurrence in neonates. In the few described cases, this has mainly been associated with sepsis or early postnatal interventions, such as insertion of umbilical arterial line. We describe a case of occlusive aortic arch thrombus in a neonate who presented with signs of critical coarctation and successfully underwent surgical thrombectomy on deep hypothermic circulatory arrest. We also present a review of the most recently published cases of aortic arch thrombus in neonates and the treatment options employed.

  16. Fractured cervical spine and aortic transection.

    LENUS (Irish Health Repository)

    Griffin, M J


    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.

  17. Detection of hypoplasia of bony cochlear nerve canal by virtual endoscopy: a pilot study

    Energy Technology Data Exchange (ETDEWEB)

    Quan Yong; Wu Lebin; Gong Wuxian; Gong Ruozhen (Shandong Medical Imaging Research Institute, Shandong Univeristy, Jinan, Shandong (China)), email:; Zu Zushan (Dept. of Radiology, Wendeng Central Hospital, Weifang Medical College, Weihai (China))


    Background: Dimensions of the bony cochlear nerve canal (BCNC) have been proposed as a potential diagnostic standard for hypoplasia of BCNC, but the standard remains inconsistent. We have previously found that a helix-like shape appears in normal BCNCs at VE images, whereas, the sign does not appear in some hypoplastic BCNCs. Purpose: To retrospectively examine the feasibility of computed tomographic (CT) virtual endoscopy (VE) in the evaluation of hypoplasia of BCNC on the basis of absence of a helix-like shape. Material and Methods: Twenty ears in 14 consecutive patients (mean age 5.5 years, range 1-15 years, 6 boys, 8 girls) diagnosed with hypoplasia of BCNC were included in this work. One hundred ears in 50 gender- and age-matched individuals (mean age 6.6 years, range 1-15 years, 29 boys, 21 girls) without inner ear disease and internal auditory canal (IAC) malformations served as controls. The presence or absence of a helix-like shape was evaluated by two independent reviewers. The value of VE for the diagnosis of hypoplasia of BCNC was assessed with clinical results and routine radiologic evaluation as the reference standard. Inter-observer agreement was calculated. Sensitivity, specificity, and accuracy were selected to test the diagnostic ability of the VE. Results: Absence of a helix-like shape was found in the cochlear area of 17 of 20 ears in patients with hypoplasia of BCNC but in none of the control subjects. Inter-observer agreement was substantial (? = 0.773). The diagnostic rates of absence of a helix-like shape for hypoplasia of BCNC in terms of sensitivity, specificity, and accuracy were 85%, 100%, and 98%, respectively. There were significant differences between the two groups with respect to VE findings for absence of a helix-like shape (P < 0.001). Conclusion: The absence of a helix-like shape at VE images may be used as a potentially useful sign in the diagnosis of hypoplasia of BCNC

  18. Fulminant diffuse systemic sclerosis following aortic valve replacement. (United States)

    Marasovic-Krstulovic, Daniela; Jurisic, Zrinka; Perkovic, Dijana; Aljinovic, Jure; Martinovic-Kaliterna, Dusanka


    We present a case of fulminant diffuse systemic sclerosis (dSSc) developed after the aortic valve replacement followed by fatal congestive heart failure within the 6 months from the initial symptoms. A 61-year-old male developed rapidly progressive diffuse systemic sclerosis following aortic valve replacement due to stenosis of bicuspid aortic valve. He presented with diarrhoea, weight loss, mialgia and arthralgia after cardiac surgery. Heart failure, due to myocardial fibrosis, was noted as a cause of death. We hypothesize that artificial materials like the ones used in mechanical valves or silicon materials in breast implants may induce fulminant course of pre-existing systemic sclerosis or create a new onset in predisposed individual.

  19. Advanced, recurrent mesothelioma growth mimicking an aortic dissection. (United States)

    Pankhania, Miran; Hardiment, Kate; Marathe, Mandar


    In the emergency setting, a cold, clammy, dyspnoeic patient presenting with interscapular chest pain and unequal blood pressures suggests an acute aortic dissection until proven otherwise. By means of a case report, the authors detail one such patient who presented identically to one having an acute aortic dissection. Initial assessment showed unequal blood pressures in left and right arms, a resting tachycardia and indistinct heart sounds. Fluid resuscitation failed to improve the patient's physiological parameters and they rapidly deteriorated. The medical history included mesothelioma and atrial fibrillation. Existing investigations were reviewed and after thorough consideration of the patient's premorbid state and likely prognosis, the decision was made to palliate. The patient died shortly after being transferred to the oncology ward. Imaging is therefore integral to the assessment and management of a patient in whom an aortic dissection is feared.

  20. Abdominal aortic aneurysm repair - open - discharge (United States)

    ... this page: // Abdominal aortic aneurysm repair - open - discharge To use the sharing features ... References Orandi BJ, Black JH. Open repair of abdominal aortic aneurysms. In: Cameron JL, Cameron AM, eds. Current Surgical ...

  1. Open aortic surgery after thoracic endovascular aortic repair. (United States)

    Coselli, Joseph S; Spiliotopoulos, Konstantinos; Preventza, Ourania; de la Cruz, Kim I; Amarasekara, Hiruni; Green, Susan Y


    In the last decade, thoracic endovascular aortic aneurysm repair (TEVAR) has emerged as an appealing alternative to the traditional open aortic aneurysm repair. This is largely due to generally improved early outcomes associated with TEVAR, including lower perioperative mortality and morbidity. However, it is relatively common for patients who undergo TEVAR to need a secondary intervention. In select circumstances, these secondary interventions are performed as an open procedure. Although it is difficult to assess the rate of open repairs after TEVAR, the rates in large series of TEVAR cases (>300) have ranged from 0.4 to 7.9 %. Major complications of TEVAR that typically necessitates open distal aortic repair (i.e., repair of the descending thoracic or thoracoabdominal aorta) include endoleak (especially type I), aortic fistula, endograft infection, device collapse or migration, and continued expansion of the aneurysm sac. Conversion to open repair of the distal aorta may be either elective (as for many endoleaks) or emergent (as for rupture, retrograde complicated dissection, malperfusion, and endograft infection). In addition, in select patients (e.g., those with a chronic aortic dissection), unrepaired sections of the aorta may progressively dilate, resulting in the need for multiple distal aortic repairs. Open repairs after TEVAR can be broadly classified as full extraction, partial extraction, or full salvage of the stent-graft. Although full and partial stent-graft extraction imply failure of TEVAR, such failure is generally absent in cases where the stent-graft can be fully salvaged. We review the literature regarding open repair after TEVAR and highlight operative strategies.

  2. Right-sided aortic arch with Kommerell′s aneurysm

    Directory of Open Access Journals (Sweden)

    Sanjay Orathi Patangi


    Full Text Available We present a case report of a 55-year-old lady who presented with progressive dysphagia and was diagnosed with a Kommerell′s aneurysm and a right-sided aortic arch. This case report outlines our management strategy and the challenges encountered during the perioperative period in a patient with this rare anomaly.

  3. 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


    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

  4. [Late complication of surgical repair of aortic coarctation: ruptured pseudoaneurysm of the aorta treated by thoracic endovascular aortic repair]. (United States)

    Varejka, P; Lubanda, J C; Prochazka, P; Heller, S; Beran, S; Dostal, O; Charvat, F; Horejs, J; Semrad, M; Linhart, A


    Aortic coarctation is a frequent congenital defect requiring early surgical treatment. Late complications of these surgical procedures can be fatal as in the case of a ruptured anastomotic pseudoaneurysm. We present a case of a 49-year-old man presenting with hemorrhagic shock due to this complication who was successfully treated by endovascular techniques with implantation of two stent grafts. This case illustrates the fact that endovascular aortic repair is feasible, certainly less invasive and very efficient for this type of complication when used in an experienced center.

  5. Aortic or Mitral Valve Replacement With the Biocor and Biocor Supra (United States)


    Aortic Valve Insufficiency; Aortic Valve Regurgitation; Aortic Valve Stenosis; Aortic Valve Incompetence; Mitral Valve Insufficiency; Mitral Valve Regurgitation; Mitral Valve Stenosis; Mitral Valve Incompetence

  6. Particle Image Velocimetry studies of bicuspid aortic valve hemodynamics (United States)

    Saikrishnan, Neelakantan; Yap, Choon-Hwai; Yoganathan, Ajit P.


    Bicuspid aortic valves (BAVs) are a congenital anomaly of the aortic valve with two fused leaflets, affecting about 1-2% of the population. BAV patients have much higher incidence of valve calcification & aortic dilatation, which may be related to altered mechanical forces from BAV hemodynamics. This study aims to characterize BAV hemodynamics using Particle Image Velocimetry(PIV). BAV models are constructed from normal explanted porcine aortic valves by suturing two leaflets together. The valves are mounted in an acrylic chamber with two sinuses & tested in a pulsatile flow loop at physiological conditions. 2D PIV is performed to obtain flow fields in three planes downstream of the valve. The stenosed BAV causes an eccentric jet, resulting in a very strong vortex in the normal sinus. The bicuspid sinus vortex appears much weaker, but more unstable. Unsteady oscillatory shear stresses are also observed, which have been associated with adverse biological response; characterization of the hemodynamics of BAVs will provide the first step to understanding these processes better. Results from multiple BAV models of varying levels of stenosis will be presented & higher stenosis corresponded to stronger jets & increased aortic wall shear stresses.

  7. Aortic root replacement with a pulmonary autograft

    NARCIS (Netherlands)

    R.B. Hokken (Raymond)


    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 with seve

  8. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. (United States)

    Gisseman, Jordan D; Herce, Honey H


    Focal Dermal Hypoplasia (FDH) or Goltz syndrome is a rare multi-system disorder with cutaneous, ocular, dental, and skeletal anomalies due to dysplasia of mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCN gene. This study is aimed to investigate the ocular findings in patients with Goltz syndrome. To date, there have been a limited number of case reports on the ocular manifestations of FDH. This is a prospective, non-consecutive, observational case series. Prospective ophthalmologic evaluation was performed on 18 patients with confirmed genetic testing for FDH, Goltz Syndrome, as a component of a larger multi-subspecialty study to better characterize the findings of this condition. Special attention was placed on evaluating the incidence of anophthalmia, microphthalmia, colobomas (iris, optic nerve, and/or retinal), cataracts, nystagmus, and strabismus. A complete ophthalmologic exam was done on all the patients. The mean patient age was 12.8 years (1-55 years). Eighty-nine percent were female and 77% (14/18) of patients had some form of an ophthalmologic manifestation of the condition. Ophthalmological findings included chorioretinal colobomas (61%), iris colobomas (50%), microphthalmia (44%), anophthalmia (11%), cataracts (11%), and conjunctival and eyelid papillomas (5%). Nystagmus was present in 33% and strabismus in 22% of the patients. Visual acuity ranged from 20/20 to no light perception. This study demonstrates a higher incidence of ophthalmologic manifestations as previously reported (77% vs. 40%). To our knowledge, this is the largest case series reported in the literature with 18 patients.

  9. A case of an aortic dissection in a young adult: a refresher of the literature of this "great masquerader". (United States)

    Pineault, Jérôme; Ouimet, Denis; Pichette, Vincent; Vallée, Michel


    Aortic dissection is often misdiagnosed, especially among young patients, and it is associated with a high mortality rate. We present here a case of fatal acute aortic dissection in a young man who was misdiagnosed with pericarditis. We reviewed the literature of acute aortic dissection in young people and we focused particularly on clinical presentations, outcomes and investigations of aortic dissection. We report a case of a 33-year-old man with a history of uncontrolled hypertension with acute pleuretic chest pain who was transferred to our hospital for suspected pulmonary embolism and died of acute hemorragic pericardial effusion from an ascendant aortic dissection. We should never rule out aortic dissection off our differential diagnosis on the sole basis of a patient's young age.


    Tabata, Minoru


    Minimally invasive aortic valve replacement (MIAVR) is defined as aortic valve replacement avoiding full sternotomy. Common approaches include a partial sternotomy right thoracotomy, and a parasternal approach. MIAVR has been shown to have advantages over conventional AVR such as shorter length of stay and smaller amount of blood transfusion and better cosmesis. However, it is also known to have disadvantages such as longer cardiopulmonary bypass and aortic cross-clamp times and potential complications related to peripheral cannulation. Appropriate patient selection is very important. Since the procedure is more complex than conventional AVR, more intensive teamwork in the operating room is essential. Additionally, a team approach during postoperative management is critical to maximize the benefits of MIAVR.

  11. Pregnancy with aortic dissection in Ehler-Danlos syndrome. Staged replacement of the total aorta (10-year follow-up). (United States)

    Babatasi, G; Massetti, M; Bhoyroo, S; Khayat, A


    Pregnancy complicated by aortic dissection in patients with hereditary disorder of connective tissue presents interesting considerations including management of caesarean section with the unexpected need for cardiac surgery in emergency. Generalizations can be made on management principles with long-term follow-up requiring an aggressive individualized approach by a multidisciplinary team. A 33-year-old parturient presenting an aortic dissection at 37 weeks gestation required prompt diagnosis of Ehlers-Danlos syndrome in combination with correct surgical therapy resulted in the survival of both the mother and infant. During the 10-year follow-up, multiple complex dissection required transverse aortic arch and thoracoabdominal aortic replacement.

  12. Aortic dissection accompanied by preeclampsia in a postpartum young woman (United States)

    Park, Jin-Wan; Kim, Su-Mi; Yu, Gyu-Bong


    Aortic dissection is very rare in obstetrics, but it is a fatal disease. A 37-weeks primigravida woman with dyspnea and pitting edema presented to our emergency room. The patient was diagnosed with preeclampsia and underwent an emergency cesarean section under spinal anesthesia. The patient complained of severe dyspnea after the cesarean section, and the chest computed tomography scan was done. With the finding of aortic dissection, cardiopulmonary arrest occurred 5 hours after the cesarean section, and the patient died without reaction to cardio-pulmonary resuscitation. If a patient with preeclampsia complains of severe dyspnea or chest pain, aortic dissection needs to be suspected and a diagnosis should not be delayed. PMID:27668205

  13. Endovascular treatment of acute type B dissection complicating aortic coarctation. (United States)

    Kassaian, Seyed Ebrahim; Abbasi, Kyomars; Mousavi, Mehdi; Sahebjam, Mohammad


    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.

  14. Imaging of aortic valve dynamics in 4D OCT

    Directory of Open Access Journals (Sweden)

    Schnabel Christian


    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.

  15. Left main coronary artery obstruction by dislodged native-valve calculus after transcatheter aortic valve replacement. (United States)

    Durmaz, Tahir; Ayhan, Huseyin; Keles, Telat; Aslan, Abdullah Nabi; Erdogan, Kemal Esref; Sari, Cenk; Bilen, Emine; Akcay, Murat; Bozkurt, Engin


    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.

  16. Simulation of bifurcated stent grafts to treat abdominal aortic aneurysms (AAA)

    CERN Document Server

    Egger, Jan; Freisleben, Bernd


    In this paper a method is introduced, to visualize bifurcated stent grafts in CT-Data. The aim is to improve therapy planning for minimal invasive treatment of abdominal aortic aneurysms (AAA). Due to precise measurement of the abdominal aortic aneurysm and exact simulation of the bifurcated stent graft, physicians are supported in choosing a suitable stent prior to an intervention. The presented method can be used to measure the dimensions of the abdominal aortic aneurysm as well as simulate a bifurcated stent graft. Both of these procedures are based on a preceding segmentation and skeletonization of the aortic, right and left iliac. Using these centerlines (aortic, right and left iliac) a bifurcated initial stent is constructed. Through the implementation of an ACM method the initial stent is fit iteratively to the vessel walls - due to the influence of external forces (distance- as well as balloonforce). Following the fitting process, the crucial values for choosing a bifurcated stent graft are measured, ...

  17. Chaotic musical murmur in aortic regurgitation. (United States)

    Miyahara, K; Amitani, S; Sohara, H; Kurose, M; Iwamura, H; Toyohira, H; Taira, A


    We report an interesting case of aortic regurgitation. Phonocardiographically, the shape of the diastolic musical murmur in this case changed in each cardiac cycle despite being in sinus rhythm, in the same posture and in the same breathing phase. Experimentally, we were able to obtain a similar noise pattern using an artificial respirator and a hemispherical silicone membrane. We concluded that the irregular and chaotic change in the shape of the diastolic musical murmur in the present case occurred due to irregular swaying of the non-coronary cusp under the influence of the Venturi effect owing to a regurgitant jet stream.

  18. Aortic valve replacement for Libman-Sacks endocarditis (United States)

    Keenan, Jack B; Janardhanan, Rajesh; Larsen, Brandon T; Khalpey, Zain


    A 24-year-old man with systemic lupus erythematosus and antiphospholipid syndrome complicated by lupus nephritis presented with acute limb ischaemia secondary to an embolus. Following embolectomy, the patient underwent a transthoracic echocardiogram which revealed a large vegetation on all three cusps of the aortic valve. The patient was taken for an urgent aortic valve replacement with a mechanical valve. Cultures of one cusp remained sterile. Histopathological examination of the remaining two cusps revealed sterile fibrin-rich thrombotic vegetations characteristic of non-bacterial thrombotic endocarditis. PMID:27702929

  19. [An inflammatory aortic aneurysm ruptured into the retroperitoneum and an extensive communication of the aneurysm with the vena cava inferior]. (United States)

    Tovar Martín, E; Acea Nebril, B; Díaz Pardeiro, P


    Aortocaval fistula is a rare complication of abdominal aortic aneurysms that occurs with a frequency of 1% of operative cases or less. In this report we present a case of aortocaval fistula associated with ruptured and inflammatory aortic aneurysm that became apparent after evacuation of the thrombus. The inferior cava was ligated. We discuss the clinical syndrome and the management of patients with aortocaval fistula secondary to an abdominal aortic aneurysm and the results of surgical repair.

  20. Acute myocardial ischemia after aortic valve replacement: A comprehensive diagnostic evaluation using dynamic multislice spiral computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Lembcke, Alexander [Department of Radiology, Charite-Universitaetsmedizin Berlin, Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, Berlin (Germany)]. E-mail:; Hein, Patrick A. [Department of Radiology, Charite-Universitaetsmedizin Berlin, Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, Berlin (Germany); Enzweiler, Christian N.H. [Department of Radiology, Charite-Universitaetsmedizin Berlin, Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, Berlin (Germany); Hoffmann, Udo [Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA (United States); Klessen, Christian [Department of Radiology, Charite-Universitaetsmedizin Berlin, Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, Berlin (Germany); Dohmen, Pascal M. [Department of Cardiovascular Surgery, Charite-Universitaetsmedizin Berlin, Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, Berlin (Germany)


    We describe the case of a 72-year-old man presenting with endocarditis and clinical signs of acute myocardial ischemia after biological aortic valve replacement. A comprehensive cardiac dynamic multislice spiral computed tomography demonstrated: (1) an endocarditic vegetation of the aortic valve; (2) a subvalvular leakage feeding a paravalvular pseudoaneurysm based on an aortic root abscess with subsequent compromise of the systolic blood flow in the left main coronary artery and the resulting myocardial perfusion deficit.

  1. Genetic and Epigenetic Regulation of Aortic Aneurysms (United States)

    Kim, Ha Won


    Aneurysms are characterized by structural deterioration of the vascular wall leading to progressive dilatation and, potentially, rupture of the aorta. While aortic aneurysms often remain clinically silent, the morbidity and mortality associated with aneurysm expansion and rupture are considerable. Over 13,000 deaths annually in the United States are attributable to aortic aneurysm rupture with less than 1 in 3 persons with aortic aneurysm rupture surviving to surgical intervention. Environmental and epidemiologic risk factors including smoking, male gender, hypertension, older age, dyslipidemia, atherosclerosis, and family history are highly associated with abdominal aortic aneurysms, while heritable genetic mutations are commonly associated with aneurysms of the thoracic aorta. Similar to other forms of cardiovascular disease, family history, genetic variation, and heritable mutations modify the risk of aortic aneurysm formation and provide mechanistic insight into the pathogenesis of human aortic aneurysms. This review will examine the relationship between heritable genetic and epigenetic influences on thoracic and abdominal aortic aneurysm formation and rupture. PMID:28116311

  2. Aortic Wall Injury Related to Endovascular Therapy for Aortic Coarctation. (United States)

    Tretter, Justin T; Jones, Thomas K; McElhinney, Doff B


    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 <1%. The incidence of acute aneurysm formation was 0% to 13% after angioplasty, 0% to 5% after bare metal stent placement, and <1% after covered stent placement. The reported incidence and natural history of both acute and new AWI during follow-up after endovascular therapy for CoA varies considerably, likely secondary to ascertainment and reporting biases and inconsistent definitions. Although important AWI after endovascular 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.

  3. Aortic Valvuloplasty as Bridging for TAVI in High-Risk Patients with Heyde’s Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Cosmo Godino


    Full Text Available There is a frequent association between aortic valve stenosis and gastrointestinal bleeding, also known as Heyde’s syndrome. In these patients, the aortic valve replacement should be recommended as “gold standard.” In high-surgical-risk patients, the Transcatheter Aortic Valve Implantation (TAVI is an alternative option. However, the risk of bleeding recurrence, related to double antiplatelet therapy started after TAVI, cannot be excluded especially in the first months. We present a case of a patient with a severe aortic valve stenosis and a history of previously documented angiodysplasia and recurrence of gastrointestinal bleeding initially treated only with balloon aortic valvuloplasty that excluded recurrence of bleeding during the subsequent six months of followup. Therefore, a definite transfemoral Edwards XT valve implantation was planned to be performed in case of recurrence of aortic stenosis.

  4. Adult aortic coarctation discovered incidentally after the rupture of sinus of Valsalva aneurysm: combined surgical and interventional approach. (United States)

    Ouali, Sana; Kortas, Chokri; Brockmeier, Konrad; Boughzela, Essia


    Combination of ruptured sinus of Valsalva aneurysm (SVA), and a coexisting asymptomatic adult aortic isthmic coarctation is extremely rare. The timing and sequence of surgical and/or interventional repair of these two pathologies are controversial. We present a case of a 37-year-old male who was admitted to our department because of severe acute congestive heart failure and signs of ruptured aneurysm of the SV into the right ventricle. Transthoracic and transoesophageal echocardiography confirmed the communication between an important right coronary SVA and right ventricle, bicuspid aortic valve, mild aortic regurgitation, and revealed severe aortic coarctation. Because of the severe dilation of right sinus of Valsalva a surgical repair of the ruptured aneurysm was performed. Aortic coarctation was treated four weeks later by a percutaneous stent-graft implantation. This case report supports the concept that hybrid approach is feasible in patients with ruptured SVA and aortic coarctation in adulthood.

  5. Remodelling of the aortic root in severe tricuspid aortic stenosis: implications for transcatheter aortic valve implantation

    Energy Technology Data Exchange (ETDEWEB)

    Stolzmann, Paul; Desbiolles, Lotus; Scheffel, Hans; Leschka, Sebastian; Marincek, Borut; Alkadhi, Hatem [University Hospital Zurich, Institute of Diagnostic Radiology, Zurich (Switzerland); Knight, Joseph; Kurtcuoglu, Vartan; Poulikakos, Dimos [Laboratory of Thermodynamics in Emerging Technologies, Department of Mechanical and Process Engineering, ETH Zurich (Switzerland); Maier, Willibald [University Hospital Zurich, Cardiovascular Center, Zurich (Switzerland); Plass, Andre [University Hospital Zurich, Clinic for Cardiovascular Surgery, Zurich (Switzerland)


    Detailed knowledge of aortic root geometry is a prerequisite to anticipate complications of transcatheter aortic valve (TAV) implantation. We determined coronary ostial locations and aortic root dimensions in patients with aortic stenosis (AS) and compared these values with normal subjects using computed tomography (CT). One hundred consecutive patients with severe tricuspid AS and 100 consecutive patients without valvular pathology (referred to as the controls) undergoing cardiac dual-source CT were included. Distances from the aortic annulus (AA) to the left coronary ostium (LCO), right coronary ostium (RCO), the height of the left coronary sinus (HLS), right coronary sinus (HRS), and aortic root dimensions [diameters of AA, sinus of Valsalva (SV), and sino-tubular junction(STJ)] were measured. LCO and RCO were 14.9 {+-} 3.2 mm (8.2-25.9) and 16.8 {+-} 3.6 mm (12.0-25.7) in the controls, 15.5 {+-} 2.9 mm (8.8-24.3) and 17.3 {+-} 3.6 mm (7.3-26.0) in patients with AS. Controls and patients with AS had similar values for LCO (P = 0.18), RCO (P = 0.33) and HLS (P = 0.88), whereas HRS (P < 0.05) was significantly larger in patients with AS. AA (r = 0.55,P < 0.001), SV (r = 0.54,P < 0.001), and STJ (r = 0.52,P < 0.001) significantly correlated with the body surface area in the controls; whereas no correlation was found in patients with AS. Patients with AS had significantly larger AA (P < 0.01) and STJ (P < 0.01) diameters when compared with the controls. In patients with severe tricuspid AS, coronary ostial locations were similar to the controls, but a transverse remodelling of the aortic root was recognized. Owing to the large distribution of ostial locations and the dilatation of the aortic root, CT is recommended before TAV implantation in each patient. (orig.)

  6. 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


    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.

  7. Spectrum of Aortic Valve Abnormalities Associated with Aortic Dilation Across Age Groups in Turner Syndrome (United States)

    Olivieri, Laura J.; Baba, Ridhwan Y.; Arai, Andrew E.; Bandettini, W. Patricia; Rosing, Douglas R.; Bakalov, Vladimir; Sachdev, Vandana; Bondy, Carolyn A.


    Background Congenital aortic valve fusion is associated with aortic dilation, aneurysm and rupture in girls and women with Turner syndrome (TS). Our objective was to characterize aortic valve structure in subjects with TS, and determine the prevalence of aortic dilation and valve dysfunction associated with different types of aortic valves. Methods and Results The aortic valve and thoracic aorta were characterized by cardiovascular magnetic resonance imaging in 208 subjects with TS in an IRB-approved natural history study. Echocardiography was used to measure peak velocities across the aortic valve, and the degree of aortic regurgitation. Four distinct valve morphologies were identified: tricuspid aortic valve (TAV) 64%(n=133), partially fused aortic valve (PF) 12%(n=25), bicuspid aortic valve (BAV) 23%(n=47), and unicuspid aortic valve (UAV) 1%(n=3). Age and body surface area (BSA) were similar in the 4 valve morphology groups. There was a significant trend, independent of age, towards larger BSA-indexed ascending aortic diameters (AADi) with increasing valve fusion. AADi were (mean +/− SD) 16.9 +/− 3.3 mm/m2, 18.3 +/− 3.3 mm/m2, and 19.8 +/− 3.9 mm/m2 (p<0.0001) for TAV, PF and BAV+UAV respectively. PF, BAV, and UAV were significantly associated with mild aortic regurgitation and elevated peak velocities across the aortic valve. Conclusions Aortic valve abnormalities in TS occur with a spectrum of severity, and are associated with aortic root dilation across age groups. Partial fusion of the aortic valve, traditionally regarded as an acquired valve problem, had an equal age distribution and was associated with an increased AADi. PMID:24084490

  8. [A hybrid approach to surgery for thoracic aortic aneurysm

    DEFF Research Database (Denmark)

    L., de la Motte; Baekgaard, N.; Jensen, L.P.;


    A 57-year-old male, previously treated surgically with insertion of grafts for type A and B aortic dissection, presented with a pulsatile mass in the jugular fossa. Further examination verified a pseudoaneurysm the inlet of which was located at the proximal anastomotic site of the descending aort...

  9. [Pseudomembranous colitis after surgery for a ruptured abdominal aortic aneurysm]. (United States)

    Lozano Sánchez, F; Sánchez Fernández, J; Palacios, E; Fernández, M; Ingelmo Morin, A; Gómez Alonso, A


    We present a rare postoperative complication after surgical procedures for rupture of abdominal aortic aneurysms. The disease, a pseudomembranous colitis, was early recognized (by evidence of clostridium difficile after a coprocultive) and satisfactorily treated with vancomycin. From the literature review we found only a similar case but results were absolutely different from our case.

  10. Aortic coarctation, aneurysm, and ventricular dysfunction in an asymptomatic infant. (United States)

    García, Ana I; Aguilar, Juan M; García, Enrique


    Aortic arch coarctation with post-coarctation aneurysm is rare in infants. We present the case of an asymptomatic 3-month-old infant with severe left ventricular dysfunction in this setting. The patient underwent surgical repair, and the left ventricular ejection fraction improved to recovery the 4th post-operative month.

  11. Ruptured aortic valve cusp: a complication of the Heimlich maneuver. (United States)

    Chapman, J H; Menapace, F J; Howell, R R


    A case of traumatic rupture of the aortic valve as a complication of the Heimlich maneuver is presented. Conformation was made by comparative echocardiographic studies available from three months before and immediately following the incident. The patient refused surgical intervention and died one month later with severe congestive heart failure despite vigorous medical therapy.

  12. [Mortality and morbidity in surgery for abdominal aortic aneurysm

    DEFF Research Database (Denmark)

    Banke, A.B.; Andersen, Jakob Steen; Heslet, L.


    INTRODUCTION: Patients undergoing surgery for ruptured abdominal aortic aneurysm (rAAA) have a mortality of 40-50%. The purpose of the present investigation is to document the mortality and morbidity of such patients at Rigshospitalet (RH) in 2005. The results are compared with the best results...

  13. Abdominal aortic surgery and renal anomalies

    Directory of Open Access Journals (Sweden)

    Ilić Nikola


    Full Text Available Introduction. Kidney anomalies present a challenge even for the most experienced vascular surgeon in the reconstruction of the aortoilliac segment. The most significant anomalies described in the surgery of the aortoilliac segment are a horse-shoe and ectopic kidney. Objective. The aim of this retrospective study was to analyze experience on 40 patients with renal anomalies, who underwent surgery of the aortoilliac segment and to determine attitudes on conventional surgical treatment. Methods. In the period from 1992 to 2009, at the Clinic for Vascular Surgery of the Clinical Centre of Belgrade we operated on 40 patients with renal anomalies and aortic disease (aneurysmatic and obstructive. The retrospective analysis involved standard epidemiological data of each patient (gender, age, risk factors for atherosclerosis, type of anomaly, type of aortic disease, presurgical parameter values of renal function, type of surgical approach (laparatomy or retroperitoneal approach, classification of the renal isthmus, reimplantation of renal arteries and perioperative morbidity and mortality. Results. Twenty patients were males In 30 (70% patients we diagnosed a horse-shoe kidney and in 10 (30% ectopic kidney. In the cases of ruptured aneurysm of the abdominal aorta the diagnosis was made by ultrasound findings. Pre-surgically, renal anomalies were confirmed in all patients, except in those with a ruptured aneurysm who underwent urgent surgery. In all patients we applied medial laparatomy, except in those with a thoracoabdominal aneurysm type IV, when the retroperitonal approach was necessary. On average the patients were under follow-up for 6.2 years (from 6 months to 17 years. Conclusion. Under our conditions, the so-called double clamp technique with the preservation of the kidney gave best results in the patients with renal anomalies and aortic disease.

  14. Transcatheter, valve-in-valve transapical aortic and mitral valve implantation, in a high risk patient with aortic and mitral prosthetic valve stenoses

    Directory of Open Access Journals (Sweden)

    Harish Ramakrishna


    Full Text Available Transcatheter valve implantation continues to grow worldwide and has been used principally for the nonsurgical management of native aortic valvular disease-as a potentially less invasive method of valve replacement in high-risk and inoperable patients with severe aortic valve stenosis. Given the burden of valvular heart disease in the general population and the increasing numbers of patients who have had previous valve operations, we are now seeing a growing number of high-risk patients presenting with prosthetic valve stenosis, who are not potential surgical candidates. For this high-risk subset transcatheter valve delivery may be the only option. Here, we present an inoperable patient with severe, prosthetic valve aortic and mitral stenosis who was successfully treated with a trans catheter based approach, with a valve-in-valve implantation procedure of both aortic and mitral valves.

  15. Basal longitudinal strain predicts future aortic valve replacement in asymptomatic patients with aortic stenosis

    DEFF Research Database (Denmark)

    Carstensen, Helle Gervig; Larsen, Linnea Hornbech; Hassager, Christian


    of myocardial dysfunction and predictors of outcome in asymptomatic aortic stenosis. Aortic stenosis and ischaemic heart disease share risk factors and longitudinal function can be severely reduced in both conditions, why some of the previous findings of impaired regional longitudinal function in asymptomatic...... aortic stenosis could in fact be explained by silent ischaemic heart disease. METHODS AND RESULTS: Prospective follow-up of 104 asymptomatic patients with moderate-severe aortic stenosis defined as an aortic valve area ...: In contrast to GLS, reduced BLS is a significant predictor of future AVR in asymptomatic patients with aortic stenosis, independently of clinical characteristics, conventional echocardiographic measures, and coronary pathology....

  16. Type F Congenital Quadricuspid Aortic Valve: A Very Rare Case Diagnosed by 3-dimenional Transoesophageal Echocardiography (United States)

    Garg, Pankaj; Kamaruddin, Hazlyna; Orme, Rachel; Watt, Victoria


    Congenital quadricuspid aortic valve (QAV) is a rare cardiac anomaly. Several different anatomical variations of a quadricuspid aortic valve have been described. Aortic regurgitation is the predominant valvular dysfunction associated with QAV and patients tend to present in their 5th or 6th decade of life. This anomaly is rarely picked up by transthoracic echocardiogram (TTE). A comprehensive transoesophageal echocardiography (TOE) study is more likely to diagnose it. We describe a very rare type of QAV – Type F in a 52-year-old lady who presented with symptoms of shortness of breath and pre-syncope. We include TOE images and intra-operative valve images. PMID:24707324

  17. Repair of Late Retrograde Type A Aortic Dissection After TEVAR: Causes and Management. (United States)

    Mosquera, Victor X; Marini, Milagros; Fraga-Manteiga, Daniel; Gulias, Daniel; Cuenca, Jose J


    One of the most feared complications of thoracic endovascular aortic repair (TEVAR) and hybrid arch repair is retrograde type A aortic dissection (RTAD). More than two-thirds of RTAD occurs in the immediate postoperative period and first postoperative month. In presentations beyond that point, progression of the native aortopathy must be considered. We report a late presentation of an RTAD seven months after hybrid repair of an aortic intramural hematoma with an ulcer-like projection, and review the causes and management of this TEVAR complication.

  18. Statins for aortic valve stenosis

    Directory of Open Access Journals (Sweden)

    Luciana Thiago

    Full Text Available ABSTRACT BACKGROUND: 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. OBJECTIVES: To evaluate the effectiveness and safety of statins in aortic valve stenosis. METHODS: 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. MAIN RESULTS: 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

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

    Directory of Open Access Journals (Sweden)

    P R Geetha Priya


    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.

  20. Evaluation of aortic cannula jet lesions in a porcine cardiopulmonary bypass (CPB) model. (United States)

    Schnürer, C; Hager, M; Györi, G; Velik-Salchner, C; Moser, P L; Laufer, G; Lorenz, I H; Kolbitsch, C


    In cardiosurgery patients atherosclerotic debris displaced from the cannulation site but also from the opposite aortic wall by the "sandblast-like" effect of the high-pressure jet emanating from the cannula is a potential source of intraoperative arterial embolization and consequently postoperative neurologic dysfunction. The present study examined the extent to which shear stress exerted on the intact aortic intima by an aortic cannula jet stream can cause endothelial lesions that promote thrombogenesis and consequently thrombembolism. A single-stream, straight-tip aortic cannula was used in a porcine cardiopulmonary bypass (CPB) model. Following a 120-minute CPB pump run, a 60-minute stabilization period was allowed before sacrificing the pigs (N.=40) for histological evaluation of the ascending aorta and the brain. Opposite the cannulation site endothelial lesions (diameter: 3.81±1.3 mm; depth: 0.017±0.003 mm) were present in 22.5% (9/40) of aortic specimens. Cerebral thrombembolic lesions were not found. The present study showed that single-stream, straight-tip aortic cannulas caused jet lesions of the formerly intact aortic endothelium opposite the cannulation site in 22.5% of cases in a porcine CPB model.

  1. Thoracic aortopathy in Turner syndrome and the influence of bicuspid aortic valves and blood pressure: a CMR study

    Directory of Open Access Journals (Sweden)

    Hager Alfred


    Full Text Available Abstract Background To investigate aortic dimensions in women with Turner syndrome (TS in relation to aortic valve morphology, blood pressure, karyotype, and clinical characteristics. Methods and results A cross sectional study of 102 women with TS (mean age 37.7; 18-62 years examined by cardiovascular magnetic resonance (CMR- successful in 95, echocardiography, and 24-hour ambulatory blood pressure. Aortic diameters were measured by CMR at 8 positions along the thoracic aorta. Twenty-four healthy females were recruited as controls. In TS, aortic dilatation was present at one or more positions in 22 (23%. Aortic diameter in women with TS and bicuspid aortic valve was significantly larger than in TS with tricuspid valves in both the ascending (32.4 ± 6.7 vs. 26.0 ± 4.4 mm; p Conclusions Aortic dilatation was present in 23% of adult TS women, where aortic valve morphology, age and blood pressure were major determinants of the aortic diameter.

  2. [Unilateral pulmonary artery agenesis with ipsilateral pulmonary hypoplasia as incidental finding in an asthmatic patient]. (United States)

    Contreras-Arias, Catalina; Duarte, Diana; Ramírez, Luis F; Serrano, Carlos D


    Unilateral absence of a pulmonary artery is an uncommon congenital heart disease. It can be related to respiratory symptoms such as asthma, an unusual finding in some of these patients. This paper reports the case of a 4-year-old male with recurrent respiratory infections and asthma symptoms, in who further studies found agenesia of right pulmonary artery with pulmonary hypoplasia of the same side.

  3. Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kono, Tatsuo [Dokkyo University, Department of Radiology, Mibu, Shimotsuga, Tochigi (Japan); Moriyama, Nobuko [Ibaraki Children' s Hospital, Department of Paediatrics, Mito, Ibaraki (Japan); Tanaka, Ryuta [University of Tsukuba, Department of Paediatrics, Tsukubu, Ibaraki (Japan); Iwasaki, Nobuaki [Ibaraki Prefectural University of Health Sciences, Department of Paediatrics, Ami, Ibaraki (Japan); Arai, Jun-ichi [Ibaraki Children' s Hospital, Department of Neonatology, Mito, Ibaraki (Japan)


    Brain MR images of a 14-month-old boy with lissencephaly and cerebellar hypoplasia showed numerous radiating linear structures in the white matter. This finding was identical to the tigroid or leopard-skin pattern that is seen in Pelizaeus-Merzbacher disease or metachromatic leukodystrophy and represents the perivascular white matter spared from demyelination. We speculate that mutations of the reelin gene, expressed both in the cortex and in the white matter, may play an important role in its development. (orig.)

  4. Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia. (United States)

    Young, Marielle P; Sawyer, Briana L; Hartnett, M Elizabeth


    Focal dermal hypoplasia is a rare X-linked dominant disorder with in utero lethality in males. Affected patients have been reported to have several different mutations in the PORCN gene on chromosome Xp11.23. Dysplastic mesodermal and ectodermal tissue causes clinical findings in the skin, skeleton, teeth, central nervous system, and eyes of affected patients. We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN.

  5. Mechanisms of cadmium-caused eye hypoplasia and hypopigmentation in zebrafish embryos

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Ting, E-mail:; Zhou, Xin-Ying, E-mail:; Ma, Xu-Fa, E-mail:; Liu, Jing-Xia, E-mail:


    Highlights: Using high-throughput in situ hybridization screening, we found that genes labeling the neural crest and its derivative pigment cells were sensitive to cadmium toxicity during zebrafish organogenesis, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in cadmium-exposed embryos. Based on neural crest markers, we identified the doses and times of cadmium exposure that cause damage to the zebrafish organogenesis, and we also found that compounds BIO or RA could neutralize the toxic effects of cadmium. - Abstract: Cadmium-caused head and eye hypoplasia and hypopigmentation has been recognized for a long time, but knowledge of the underlying mechanisms is limited. In this study, we found that high mortality occurred in exposed embryos after 24 hpf, when cadmium (Cd) dosage was above 17.8 μM. Using high-throughput in situ hybridization screening, we found that genes labelling the neural crest and its derivative pigment cells exhibited obviously reduced expression in Cd-exposed embryos from 24 hpf, 2 days earlier than head and eye hypoplasia and hypopigmentation occurred. Moreover, based on expression of crestin, a neural crest marker, we found that embryos before the gastrula stage were more sensitive to cadmium toxicity and that damage caused by Cd on embryogenesis was dosage dependent. In addition, by phenotype observation and detection of neural crest and pigment cell markers, we found that BIO and retinoic acid (RA) could neutralize the toxic effects of Cd on zebrafish embryogenesis. In this study, we first determined that Cd blocked the formation of the neural crest and inhibited specification of pigment cells, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in Cd-exposed embryos. Moreover, we found that compounds BIO or RA could neutralize the toxic effects of Cd.

  6. Interproximal contact hypoplasia in primary teeth: A new enamel defect with anthropological and clinical relevance. (United States)

    Lukacs, John R.


    This study reports the prevalence, distribution, and expression of enamel defects in a sample of primary teeth (n = 225) from a prehistoric site in western India (1400-700 BC). Five enamel surfaces of individual, isolated primary teeth were observed for surface defects using a binocular stereomicroscope with variable power of magnification (8-20x). Standards for evaluating dental enamel defects (DDE) recommended by the Fédération Dentaire International (FDI) were employed. Details of defect expression were also recorded, including size, shape, and surface of tooth crown affected. Hypoplastic enamel defects were observed in 28% of teeth, but the distribution and expression of defects was not random. More than 50% of canine teeth had hypoplastic defects (HD); incisors and molar teeth exhibited far fewer HD. The buccal surface of canines was the most commonly affected crown surface. Areas of missing enamel were also common on the mesial and distal surfaces of canines and incisors and on the mesial surface of molar teeth. The high frequency of enamel defects found on interproximal crown surfaces warrants a label, and the name interproximal contact hypoplasia (IPCH) is proposed. Linear enamel hypoplasia (LEH) was absent from this primary dental sample. IPCH is more frequent in mandibular than in maxillary teeth, but no side preference was detected. In canine teeth, buccal hypoplasias (localized hypoplasia of primary canines; LHPC) were not positively correlated with interproximal hypoplastic defects. The etiology of IPCH may involve mesial compaction of developing teeth due to slow longitudinal growth of the jaws. Episodic bone remodeling results in ephemeral fenestrae in the mesial and distal walls of the dental crypt permitting tooth-tooth contact and disruption of amelogenesis. IPCH prevalence decreases across the subsistence transition from sedentary Early Jorwe agriculturalists to seminomadic Late Jorwe hunters and foragers, but the difference is not

  7. Prenatal determinants of optic nerve hypoplasia: Review of suggested correlates and future focus


    Garcia-Filion, Pamela; Borchert, Mark


    Optic nerve hypoplasia (ONH), a congenital malformation characterized by an underdeveloped optic nerve, is a seemingly epidemic cause of childhood blindness and visual impairment with associated lifelong morbidity. While the prenatal determinants of ONH are unknown, early case reports have led to a longstanding speculation that risky health behaviors (e.g. recreational drugs, alcohol) are a likely culprit. There has yet to be a systematic review of the epidemiology of ONH to assess the common...

  8. The emerging epidemic of methamphetamine-induced aortic dissections. (United States)

    Wako, Elizabeth; LeDoux, Denise; Mitsumori, Lee; Aldea, Gabriel S


    The clinical presentation, treatment, and outcomes of six consecutive patients presenting with acute aortic dissection secondary to hypertensive crises from methamphetamine use is described. Data were obtained prospectively from the expanded STS clinical database of the division of cardiothoracic surgery at the University of Washington, but reviewed in a retrospective fashion. These patients represent 5.5% of all patients diagnosed and treated for aortic dissection in the same time period (6/109) and 20% of all patients with aortic dissection under the age of 50 years (6/30). We conclude that young patients (presenting with acute aortic dissections should be routinely tested for methamphetamine. Positive urine tests should be confirmed with chromatography-mass spectrometry (GC-MS). Beta and alpha blockers should be used instead of the more typical beta blockade alone. We recommend the addition and documentation of intense, long-term drug rehabilitation program along with routine periodic clinical and radiographic follow-up to prevent secondary aneurysmal dilation of remaining pathological aorta.

  9. Extracorporeal membrane oxygenation in the neonate with congenital renal disease and pulmonary hypoplasia. (United States)

    Caesar, R E; Packer, M G; Kaplan, G W; Dudell, G G; Guerrant, A L; Griswold, W R; Lemire, J M; Mendoza, S A; Reznik, V M


    Extracorporeal membrane oxygenation (ECMO) is an effective treatment modality for the newborn with refractory hypoxemia. Oligohydramnios can be associated with congenital renal disease (CRD) and can result in respiratory insufficiency from pulmonary hypoplasia, delayed lung maturation, and persistent pulmonary hypertension of the newborn. In this retrospective study, the authors reviewed the outcome of four children with CRD who required ECMO in the neonatal period. Between October 1987 and December 1995, ECMO was used in four newborns with CRD and pulmonary hypoplasia unresponsive to maximal medical management. The causes of CRD were urinary obstruction (2), renal dysplasia (1), and vesicoureteral reflux (1). Neonatal survivors of ECMO with CRD had regular follow-up with a nephrologist, urologist, and pediatrician. Developmental history, assessment of renal function, and a nutritional evaluation were recorded on each visit. The follow-up period ranged from 6 months to 5 years. All patients with CRD were successfully weaned from ECMO. One child died, at 1 month of age, because of renal failure. The estimated glomerular filtration rates in the three survivors were 20, 24, and 60 mL/min/1.73 m2. Growth and development have been delayed in two patients. Based on the author's experience, ECMO may improve the survival of neonates with pulmonary hypoplasia and CRD. Factors associated with successful long-term outcome include (1) renal disease amenable to surgical correction, (2) aggressive nutritional support, and (3) a reliable social support system.

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

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


    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. Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia. (United States)

    Rocas, Delphine; Alix, Eudeline; Michel, Jessica; Cordier, Marie-Pierre; Labalme, Audrey; Guilbert, Hélène; Till, Marianne; Schluth-Bolard, Caroline; de Haas, Pascale; Massardier, Jérôme; Portes, Vincent des; Edery, Patrick; Touraine, Renaud; Guibaud, Laurent; Vasiljevic, Alexandre; Sanlaville, Damien


    We report the case of a 33-year-old pregnant woman. The third-trimester ultrasound scan during pregnancy revealed fetal bilateral ventricular dilatation, macrosomia and a transverse diameter of the cerebellum at the 30th centile. A brain MRI scan at 31 weeks of gestation led to a diagnosis of hypoplasia of the cerebellar vermis without hemisphere abnormalities and a non compressive expansion of the cisterna magna. The fetal karyotype was 46,XX. The pregnancy was terminated and array-CGH analysis of the fetus identified a 238 kb de novo deletion on chromosome Xp12, encompassing part of OPHN1 gene. Further studies revealed a completely skewed pattern of X inactivation. OPHN1 is involved in X-linked mental retardation (XLMR) with cerebellar hypoplasia and encodes a Rho-GTPase-activating protein called oligophrenin-1, which is produced throughout the developing mouse brain and in the hippocampus and Purkinje cells of the cerebellum in adult mice. Neuropathological examination of the female fetus revealed cerebellar hypoplasia and the heterotopia of Purkinje cells at multiple sites in the white matter of the cerebellum. This condition mostly affects male fetuses in humans. We report here the first case of a de novo partial deletion of OPHN1, with radiological and neuropathological examination, in a female fetus.

  12. Grading system modification and management of blunt aortic injury

    Institute of Scientific and Technical Information of China (English)

    Kaavya N Reddy; Tim Matatov; Linda D Doucet; Maureen Heldmann; Cynthia X Zhao; Wayne W Zhang


    Background The traditional approach to blunt aortic injury (BAI) has been emergent intervention.This study aimed to utilize a modified imaging grading system that may allow us to categorize these injuries as needing emergent,urgent,or non-operative management.Methods From January 2003 to December 2011,28 patients with BAI were managed at our institution.Imaging and medical records were reviewed retrospectively.BAI was classified into 4 grades based on imaging studies.Grade la:intimal tear,Grade Ⅰb:intramural hematoma; Grade Ⅱ:intimal injury with periaotic hematoma; Grade lia:aortic transection with pseudoaneurysm,Grade Ⅲb:multiple aortic injuries; and Grade Ⅳ:free rupture.Progression and clinical outcomes of ABI were analyzed.Results Of the 28 patients,22 were males and 6 were females with mean age of 38 (range,7--69) years.Twenty-five (89.3%) had descending thoracic aortic injury,two (7.1%) had abdominal aortic injury and one (3.6%) presented with multiple aortic injuries.Three patients (10.7%) with Grade Ⅰ,1 (3.6%) Grade Ⅱ,22 (78.6%) Grade Ⅲ,and 2 (7.1%) Grade Ⅳ injuries.Twenty-five patients underwent thoracic endovascular aortic repair and 3 were managed medically.Median time between injury and surgical intervention was (2±1) days.One (3.6%) patient developed paraplegia after thoracic endovascular aortic repair (TEVAR).One Type 2 endoleak spontaneously sealed within 1 month,and another patient died from ruptured Type 1 endoleak 3 years later.Median follow-up time was 16 (range,1-96) months.Perioperative 30-day mortality rate was 3.6%.Conclusions This study based on our modified BAI grading system indicated that Grade Ⅰ BAI can be managed conservatively.Grade Ⅱ injury requires close observation and repeated computerized tomography angiogram (CTA)within 48-72 hours.If injury appears worse on follow up imaging,surgery should be performed.Delayed repair of Grade Ⅲ BAI is acceptable if associated life threatening traumatic

  13. Decreased expression of fibulin-4 in aortic wall of aortic dissection. (United States)

    Huawei, P; Qian, C; Chuan, T; Lei, L; Laing, W; Wenlong, X; Wenzhi, L


    In this research, we will examine the expression of Fibulin-4 in aortic wall to find out its role in aortic dissection development. The samples of aortic wall were obtained from 10 patients operated for acute ascending aortic dissection and five patients for chronic ascending aortic dissection. Another 15 pieces of samples from patients who had coronary artery bypass were as controls. The aortic samples were stained with aldehyde magenta dyeing to evaluate the arrangement of elastic fibers. The Fibulin-4 protein and mRNA expression were both determined by Western blot and realtime quantitative polymerase chain reaction. Compared with the control group, both in acute and chronic ascending aortic dissection, elastic fiber fragments increased and the expression of fibulin-4 protein significantly decreased (P= 0.045 < 0.05). The level of fibulin-4 mRNA decreased in acute ascending aortic dissection (P= 0.034 < 0.05), while it increased in chronic ascending aortic dissection (P=0.004 < 0.05). The increased amounts of elastic fiber fragments were negatively correlated with the expression of fibulin-4 mRNA in acute ascending aortic dissection. In conclusion, in aortic wall of ascending aortic dissection, the expression of fibulin-4 protein decreased and the expression of fibulin-4 mRNA was abnormal. Fibulin-4 may play an important role in the pathogenesis of aortic dissection.

  14. Transcatheter aortic valve implantation versus surgical aortic valve replacement for severe aortic stenosis: a meta analysis

    Institute of Scientific and Technical Information of China (English)

    WU Yi-cheng; ZHANG Jian-feng; SHEN Wei-feng; ZHAO Qiang


    Background Transcatheter aortic valve implantation (TAVI) has emerged as the treatment choice for non-operable patients with severe symptomatic aortic stenosis (AS) and may be a good alternative to surgery for those at very high or prohibitive surgical risk.We performed a meta-analysis to evaluate the comparative benefits of TAVI versus surgical aortic valve replacement (SAVR) in patients with severe AS.Methods A comprehensive literature search of PubMed,Embase,ScienceDirect and Cochrane Central Register of Controlled trials was performed,and randomized trials as well as cohort studies with propensity score analysis were included.Results One randomized trial (n=699) and six retrospective cohort studies (n=781) were selected for meta-analysis.Mortality at 30-day and 1-year follow-up was comparable between TAVI and SAVR.Despite similar incidences of stroke,myocardial infarction,re-operation for bleeding,and renal failure requiring dialysis,TAVI was associated with a lower occurrence rate of new-onset atrial fibrillation (OR 0.51,95% CI 0.33-0.78) and shorter procedural time (mean difference -67.50 minutes,95% CI-87.20 to-47.81 minutes).Post-operative aortic regurgitation and permanent pacemaker implantation were more common in patients after TAVI than in those with SAVR (OR 5.53,95% CI 3.41-8.97; OR 1.71,95% Cl 1.02-2.84,respectively).Conclusion In patients with severe symptomatic AS,TAVI and SAVR did not differ with respect to short-and mid-term survival,but the incidence of permanent pacemaker implantation and post-procedural aortic regurgitation remain relatively high after TAVI.

  15. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. (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


    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.

  16. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. (United States)

    Milewicz, Dianna M; Regalado, Ellen S; Shendure, Jay; Nickerson, Deborah A; Guo, Dong-chuan


    Thoracic aortic aneurysms involving the aortic root and/or ascending aorta can lead to acute aortic dissections. Approximately 20% of patients with thoracic aortic aneurysms and dissections (TAAD) have a family history of the disease, referred to as familial TAAD (FTAAD) that can be inherited in an autosomal dominant manner with variable expression with respect to disease presentation, age of onset and associated features. Whole exome sequencing (WES) has been used to identify causative mutations in novel genes for TAAD. The strategy used to reduce the large number of rare variants identified using WES is to sequence distant relatives with TAAD and filter for heterozygous rare variants that are shared between the relatives, predicted to disrupt protein function and segregate with the TAAD phenotype in other family members. Putative genes are validated by identifying additional families with a causative mutation in the genes. This approach has successfully identified novel genes for FTAAD.

  17. What Lies behind the Ischemic Stroke: Aortic Dissection?

    Directory of Open Access Journals (Sweden)

    Turgut Deniz


    Full Text Available Introduction. Some cases with aortic dissection (AD could present with various complaints other than pain, especially neurological and cardiovascular manifestations. AD involving the carotid arteries could be associated with many clinical presentations, ranging from stroke to nonspecific headache. Case Report. A 71-year-old woman was admitted to emergency department with vertigo which started within the previous one hour and progressed with deterioration of consciousness following speech disorder. On arrival, she was disoriented and uncooperative. Diffusion magnetic resonance imaging (MRI of brain was consistent with acute ischemia in the cerebral hemisphere. Fibrinolytic treatment has been planned since symptoms started within two hours. Echocardiography has shown the dilatation of ascending aorta with a suspicion of flap. Computed tomography (CT angiography has been applied and intimal flap has been detected which was consistent with aortic dissection, intramural hematoma of which was reaching from aortic arch to bilateral common carotid artery. Thereafter, treatment strategy has completely changed and surgical invention has been done. Conclusion. In patients who are admitted to the emergency department with the loss of consciousness and stroke, inadequacy of anamnesis and carotid artery involvement of aortic dissection should be kept in mind.

  18. Management of Concomitant Cancer and Abdominal Aortic Aneurysm

    Directory of Open Access Journals (Sweden)

    Abdullah Jibawi


    Full Text Available Background. The coexistence of neoplasm and abdominal aortic aneurysm (AAA presents a real management challenge. This paper reviews the literature on the prevalence, diagnosis, and management dilemmas of concurrent visceral malignancy and abdominal aortic aneurysm. Method. The MEDLINE and HIGHWIRE databases (1966-present were searched. Papers detailing relevant data were assessed for quality and validity. All case series, review articles, and references of such articles were searched for additional relevant papers. Results. Current challenges in decision making, the effect of major body-cavity surgery on an untreated aneurysm, the effects of major vascular surgery on the treatment of malignancy, the use of EVAR (endovascular aortic aneurysm repair as a fairly low-risk procedure and its role in the management of malignancy, and the effect of other challenging issues such as the use of adjuvant therapy, and patients informed decision-making were reviewed and discussed. Conclusion. In synchronous malignancy and abdominal aortic aneurysm, the most life-threatening lesion should be addressed first. Endovascular aneurysm repair where possible, followed by malignancy resection, is becoming the preferred initial treatment choice in most centres.

  19. A mathematical model of aortic aneurysm formation (United States)

    Hao, Wenrui; Gong, Shihua; Wu, Shuonan; Xu, Jinchao; Go, Michael R.; Friedman, Avner; Zhu, Dai


    Abdominal aortic aneurysm (AAA) is a localized enlargement of the abdominal aorta, such that the diameter exceeds 3 cm. The natural history of AAA is progressive growth leading to rupture, an event that carries up to 90% risk of mortality. Hence there is a need to predict the growth of the diameter of the aorta based on the diameter of a patient’s aneurysm at initial screening and aided by non-invasive biomarkers. IL-6 is overexpressed in AAA and was suggested as a prognostic marker for the risk in AAA. The present paper develops a mathematical model which relates the growth of the abdominal aorta to the serum concentration of IL-6. Given the initial diameter of the aorta and the serum concentration of IL-6, the model predicts the growth of the diameter at subsequent times. Such a prediction can provide guidance to how closely the patient’s abdominal aorta should be monitored. The mathematical model is represented by a system of partial differential equations taking place in the aortic wall, where the media is assumed to have the constituency of an hyperelastic material. PMID:28212412

  20. Aortic Dissection of Unknown Origin in a Young Patient: A Case Report


    Majid Hajimaghsoudi; Faeze Zeinali; Mehdi Bagherabadi; Morteza Saeedi


    Aortic dissection occurs when a tear develops in the wall of the aorta, which is rare in the young population. This fatal disorder is hard to diagnose, especially in young patients. We present the case of aortic dissection in a 15-year-old boy referred to the Emergency Department of Yazd University of Medical Sciences in November 2015. The patient presented to our department with sudden acute chest pain. Emergent computed tomography (CT) scanning of the brain, chest, and abdomen reflected bil...

  1. Endovascular management of an acquired aortobronchial fistula following aortic bypass for coarctation.

    LENUS (Irish Health Repository)

    O'Sullivan, Katie E


    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.

  2. Aortic Coarctation Diagnosed During Pregnancy in a Woman With Repaired Tetralogy of Fallot. (United States)

    Jalal, Zakaria; Iriart, Xavier; Thambo, Jean-Benoit


    Aortic coarctation is thought to be a rare condition in patients with tetralogy of Fallot. We report the case of a 26 year old woman presenting with systemic hypertension at 17 weeks of pregnancy after repair of tetralogy of Fallot in childhood. Echocardiography and magnetic resonance imaging revealed right aortic arch with severe isthmic coarctation. Her blood pressure was controlled medically during the rest of her pregnancy, and delivery was uneventful. Successful transcatheter placement of a covered stent at the level of the coarctation was performed after delivery. To our knowledge, this is the first reported case of aortic coarctation diagnosed in an adult patient late after repair of tetralogy of Fallot.

  3. Familial aortic coarctation: a rare cause of refractory hypertension in the elderly: a case report. (United States)

    Lara-Rojas, Carmen M; Bernal-Lopez, M Rosa; Lopez-Carmona, M Dolores; Gomez-Huelgas, Ricardo


    We report the first case of late presentation of familial aortic coarctation, a rare cause of hypertension. Diagnosis of familial aortic coarctation in the elderly is exceptional, given that in the absence of endovascular or surgical repair patients do not usually survive beyond 50 years of age. Our case concerns a 72-year-old woman with hypertension of long evolution, control of which improved markedly after endovascular repair of the coarctation. Her son had undergone surgery for repair of aortic coarctation at the age of 23 years.

  4. CPB-assisted aortic valve replacement in a pregnant 27-year-old with endocarditis. (United States)

    Marcoux, J; Rosin, M; Mycyk, T


    A 27-year-old, G(3)P( 2)A(0) female with acute Staph aureus (SA) endocarditis successfully underwent CPB-assisted aortic valve replacement with a bioprosthetic aortic valve at 22 weeks' gestation. This patient's presentation of acute endocarditis complicated by septic shock, congestive heart failure, severe aortic insufficiency, multiple septic embolic events and borderline renal failure appeared on the daunting background of chronic heavy tobacco usage, hepatitis C positivity, long-term IV drug abuse and a pregnancy into its twenty-second week. Optimal treatment strategies implemented for both mother and fetus throughout the perioperative period contributed to a successful outcome for both.

  5. Endovascular management of an acquired aortobronchial fistula following aortic bypass for coarctation. (United States)

    O'Sullivan, Katie E; Bolster, Ferdia; Lawler, Leo P; Hurley, John


    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.

  6. Rare Complication of non-Treated Abdominal Aortic Aneurysm: Extensive Thrombus in Right Cardiac Chambers (United States)

    Hotta, Viviane Tiemi; Bluemke, David A.; Staszko, Kamila Fernanda; Pereira, Ana Neri Rodrigues Epitacio; Rochitte, Carlos Eduardo


    A 78-year-old patient presented with shortness of breath after falling down. Transthoracic echocardiogram showed an extensive thrombus in the right atrium (RA), extensive thrombosis of the inferior vena cava (IVC), and abdominal aortic aneurysm (AAA). A magnetic resonance confirmed the thrombosis of the RA extending to the IVC, which was apparently fused to the abdominal aortic aneurysm (compression? erosion?). This case illustrates a severe and rare complication of a non-treated AAA. There probably was IVC erosion by the aortic aneurysm, leading to blood stasis and extensive thrombosis of the IVC and right cardiac chambers. PMID:27849260

  7. Severe Gastrointestinal Bleeding in a Patient With Subvalvular Aortic Stenosis Treated With Thalidomide and Octreotide

    DEFF Research Database (Denmark)

    Hvid-Jensen, Helene S; Poulsen, Steen H; Agnholt, Jørgen S


    Gastrointestinal bleeding (GB) due to angiodysplasias can cause severe, recurrent bleeding, especially in elderly patients. Angiodysplastic bleedings in the gastrointestinal tract have been associated with aortic stenosis and, more recently, hypertrophic obstructive cardiomyopathy, caused...... to resolve bleeding, especially in patients with large numbers of angiodysplasias. In patients with aortic stenosis and GB, the main treatment is aortic valve replacement but the patients may be unfit to undergo surgery due to the complicating anemia. In this case story, we present a patient with severe, GB...

  8. Aortic endograft sizing in trauma patients with hemodynamic instability

    NARCIS (Netherlands)

    Jonker, Frederik H. W.; Verhagen, Hence J. M.; Mojibian, Hamid; Davis, Kimberly A.; Moll, Frans L.; Muhs, Bart E.


    Objectives: To investigate changes in aortic diameter in hemodynamically unstable trauma patients and the implications for sizing of thoracic endovascular aortic repair (TEVAR) in patients with traumatic thoracic aortic injury (TTAI). Methods: We retrospectively evaluated all trauma patients that we

  9. 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


    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...

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

    Directory of Open Access Journals (Sweden)

    Vitalis Tania


    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.

  11. Anesthetic management for laparoscopy surgery in a patient with residual coarctation of aorta and mild aortic stenosis

    Directory of Open Access Journals (Sweden)

    Renu Sinha


    Full Text Available Perioperative management of patients with congenital heart disease is a challenge for the anesthesiologist. We present successful anesthetic management for diagnostic laparoscopy and cystectomy for tubo-ovarian mass in a case of residual coarctation of the aorta along with bicuspid aortic valve and mild aortic stenosis.

  12. Histology of a Marfan aorta 4.5 years after personalized external aortic root support. (United States)

    Pepper, John; Goddard, Martin; Mohiaddin, Raad; Treasure, Tom


    In 2008, a 26-year old man had personalized external aortic root support (PEARS) with a macroporous mesh. He was the 16th of 46 patients to have this operation. He had a typical Marfan habitus. His mother died of this disease as did his brother, with an aortic dissection. The patient himself died suddenly 4.5 years after his PEARS operation. At autopsy, there was no blood in the pericardium. The coronary orifices and proximal arteries were normal. His bicuspid aortic valve was minimally regurgitant as it was prior to operation and remained throughout follow-up. Macroscopically the implanted mesh was embedded in the adventitia and not separable from the aortic wall. Microscopically it was fully incorporated with collagen fibres as has been seen in our animal studies. The unsupported aortic arch showed some focal fragmentation of elastic fibres and a mild increase in mucopolysaccharides consistent with Marfan syndrome. These appearances were not present in the supported aortic root, which had the histological appearance of a normal aorta. He was the first patient to die with an implant. The histological appearances suggest the possibility that the incorporated support of the aortic root allowed recovery of the microstructure of the media.

  13. Svensson Class IV Ascending Aortic Dissection, Often Confused With Penetrating Ulcer

    Directory of Open Access Journals (Sweden)

    Mitsomoy Michel Francklyn


    Full Text Available We present the case of a 64 years old male patient who had recently suffered an infective aortic valve endocarditis (Streptococcus agalactiae complicated by embolic arthritis of the right hip. Initial echocardiography revealed moderate aortic insufficiency developed on a tricuspidaortic valve with a small vegetation (5 mm × 4 mm on the left coronary cusp. Furthermore, ananeurysmal dilatation of the ascending aorta (maximal diameter, 54 mm was noted. Other heartvalves and left ventricular function were considered normal. The patient completed a 4 weekscourse of antibiotherapy, and the right hip arthritis was treated by drainage and synovectomy.The patient was subsequently referred to surgery on an outpatient basis for the aneurysm of theascending aorta. Preoperative computed tomography showed localized aortic dissection of thetubular ascending aorta characterized by an intimal tear without medial hematoma but excentricbulging of the aortic wall. This lesion was initially considered a penetrating ulcer of the aortic wallThe operative specimen allowed to make differential diagnosis with a penetrating aortic ulcer byshowing that the lesion did not develop within an atherosclerotic plaque. However, downstreamextension of the dissection was probably limited by the presence of transmural calcifications on itsdistal side. The patient underwent successful complete aortic root replacement using a stentlessFreestyle bioprosthesis with Dacron graft extension as reported previously

  14. 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


    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...

  15. New-onset atrial fibrillation after surgical aortic valve replacement and transcatheter aortic valve implantation

    DEFF Research Database (Denmark)

    Jørgensen, Troels Højsgaard; Thygesen, Julie Bjerre; Thyregod, Hans Gustav;


    Surgical aortic valve replacement (SAVR) and, more recently, transcatheter aortic valve implantation (TAVI) have been shown to be the only treatments that can improve the natural cause of severe aortic valve stenosis. However, after SAVR and TAVI, the incidence of new-onset atrial fibrillation...

  16. New-Onset Atrial Fibrillation After Surgical Aortic Valve Replacement and Transcatheter Aortic Valve Implantation

    DEFF Research Database (Denmark)

    Jørgensen, Troels Højsgaard; Thygesen, Julie Bjerre; Thyregod, Hans Gustav;


    Surgical aortic valve replacement (SAVR) and, more recently, transcatheter aortic valve implantation (TAVI) have been shown to be the only treatments that can improve the natural cause of severe aortic valve stenosis. However, after SAVR and TAVI, the incidence of new-onset atrial fibrillation...

  17. 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)


    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 ass

  18. The Efficacy of Autologous Femoropopliteal Vein Reconstruction for Primary Aortic and Aortic Graft Infection

    NARCIS (Netherlands)

    Dirven, M.; Jagt, M.F.P. van der; Barendregt, W.B.; Vliet, D. van der


    BACKGROUND: The objective of our study was to analyze the efficacy of autologous superficial femoropopliteal vein reconstruction for primary aortic or aortic graft infection. METHODS: We performed a retrospective analysis of 14 patients treated for an infected aortic prosthesis or primary infected a

  19. A case report of focal dermal hypoplasia-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    Sheela Bharani


    Full Text Available Goltz syndrome is a rare multisystem disorder with cutaneous, ocular, dental and skeletal abnormalities. Other mesoectodermal abnormalities are also present. Its hallmark is thinning of the dermis resulting subcutaneous fat herniation. The present case is a 5 year old girl having linear skin atrophy with fat herniation, skeletal abnormalities in the form of polysyndactyly, facial asymmetry, squint with coloboma iris, deformed pinna, abnormal dentition, umbilical hernia along with osteopathia striata of long bones which is consistent with Goltz syndrome. We are presenting this case due to its rarity.

  20. 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. (United States)

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


    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.

  1. Low-gradient aortic stenosis. (United States)

    Clavel, Marie-Annick; Magne, Julien; Pibarot, Philippe


    An important proportion of patients with aortic stenosis (AS) have a 'low-gradient' AS, i.e. a small aortic valve area (AVA <1.0 cm(2)) consistent with severe AS but a low mean transvalvular gradient (<40 mmHg) consistent with non-severe AS. The management of this subset of patients is particularly challenging because the AVA-gradient discrepancy raises uncertainty about the actual stenosis severity and thus about the indication for aortic valve replacement (AVR) if the patient has symptoms and/or left ventricular (LV) systolic dysfunction. The most frequent cause of low-gradient (LG) AS is the presence of a low LV outflow state, which may occur with reduced left ventricular ejection fraction (LVEF), i.e. classical low-flow, low-gradient (LF-LG), or preserved LVEF, i.e. paradoxical LF-LG. Furthermore, a substantial proportion of patients with AS may have a normal-flow, low-gradient (NF-LG) AS: i.e. a small AVA-low-gradient combination but with a normal flow. One of the most important clinical challenges in these three categories of patients with LG AS (classical LF-LG, paradoxical LF-LG, and NF-LG) is to differentiate a true-severe AS that generally benefits from AVR vs. a pseudo-severe AS that should be managed conservatively. A low-dose dobutamine stress echocardiography may be used for this purpose in patients with classical LF-LG AS, whereas aortic valve calcium scoring by multi-detector computed tomography is the preferred modality in those with paradoxical LF-LG or NF-LG AS. Although patients with LF-LG severe AS have worse outcomes than those with high-gradient AS following AVR, they nonetheless display an important survival benefit with this intervention. Some studies suggest that transcatheter AVR may be superior to surgical AVR in patients with LF-LG AS.

  2. Cardiac Imaging for Assessing Low-Gradient Severe Aortic Stenosis. (United States)

    Clavel, Marie-Annick; Burwash, Ian G; Pibarot, Philippe


    Up to 40% of patients with aortic stenosis (AS) harbor discordant Doppler-echocardiographic findings, the most common of which is the presence of a small aortic valve area (≤1.0 cm(2)) suggesting severe AS, but a low gradient (<40 mm Hg) suggesting nonsevere AS. The purpose of this paper is to present the role of multimodality imaging in the diagnostic and therapeutic management of this challenging entity referred to as low-gradient AS. Doppler-echocardiography is critical to determine the subtype of low-gradient AS: that is, classical low-flow, paradoxical low-flow, or normal-flow. Patients with low-flow, low-gradient AS generally have a worse prognosis compared with patients with high-gradient or with normal-flow, low-gradient AS. Patients with low-gradient AS and evidence of severe AS benefit from aortic valve replacement (AVR). However, confirmation of the presence of severe AS is particularly challenging in these patients and requires a multimodality imaging approach including low-dose dobutamine stress echocardiography and aortic valve calcium scoring by multidetector computed tomography. Transcatheter AVR using a transfemoral approach may be superior to surgical AVR in patients with low-flow, low-gradient AS. Further studies are needed to confirm the best valve replacement procedure and prosthetic valve for each category of low-gradient AS and to identify patients with low-gradient AS in whom AVR is likely to be futile.

  3. Medical image of the week: acute aortic dissection

    Directory of Open Access Journals (Sweden)

    Desai H


    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 ...

  4. Wall shear stress indicators in abnormal aortic geometries (United States)

    Prahl Wittberg, Lisa; van Wyk, Stevin; Fuchs, Laszlo; Gutmark, Ephraim; Gutmark-Little, Iris


    Cardiovascular disease, such as atherosclerosis, occurs at specific locations in the arterial tree. Characterizing flow and forces at these locations is crucial to understanding the genesis of disease. Measures such as time average wall shear stress, oscillatory shear index, relative residence time and temporal wall shear stress gradients have been shown to identify plaque prone regions. The present paper examines these indices in three aortic geometries obtained from patients whose aortas are deformed due to a genetic pathology and compared to one normal geometry. This patient group is known to be prone to aortic dissection and our study aims to identify early indicators that will enable timely intervention. Data obtained from cardiac magnetic resonance imaging is used to reconstruct the aortic arch. The local unsteady flow characteristics are calculated, fully resolving the flow field throughout the entire cardiac cycle. The Quemada model is applied to account for the non-Newtonian properties of blood, an empirical model valid for different red blood cell loading. The impact of the deformed aortic geometries is analyzed to identify flow patterns that could lead to arterial disease at certain locations.

  5. Sudden death in infancy due to bicuspid aortic valve. (United States)

    Karayel, Ferah; Ozaslan, Abdi; Turan, Arzu Akcay; Pakis, Isil; Ketenci, Cetin; Eroglu, Ayse Guler


    Symptoms of bicuspid aortic valve usually occur in the age group of 50-70 years, but rarely, it can also lead to sudden unexpected death in infancy and early childhood. The autopsy of a 2-month-old baby boy, found dead in his cot, revealed the heart weight as 25 g, and the macroscopic examination showed the circumference of the aortic valve consisting of two leaflets as 8 mm. The thickness of the left ventricle, right ventricle, and septum was measured as 8, 7, and 10 mm, respectively. Microscopically, the heart revealed hypertrophic changes of myocytes. Subendocardial areas displayed necrosis of myocytes, and severe and diffuse ischemic changes characterized by loss of myofibers and vacuolization. Interstitial pneumonia was identified in the lungs. Death occurred as a result of a congenital bicuspid aortic valve obstructing the left ventricular outflow tract complicated by lung infection. As there are only a few reported cases in infancy, and congenital bicuspid aortic valve can lead to sudden unexpected death, this case is presented to the forensic community.

  6. Simulation study and function analysis of the dynamic aortic valve

    Institute of Scientific and Technical Information of China (English)

    XIA Dongdong; BAI Jing


    The dynamic aortic valve (DAV) is a new left ventricular assist device, a micro-axial blood pump implemented at the position of the aortic valve, pumping blood from the left ventricle into the aortic artery. The present dynamic aortic valve operates at 7 different rotation speeds, ranging from 3000 r/min (speed 1) to 9000 r/min (speed 7). Because in vivo experiments need a lot of live animals and take a long period of time, modeling and simulation have been widely used to simulate and analyze hydra-dynamic property of the DAV and its assisting effects. With the measurements from the mock circulatory loop, a mathematic model of the DAV is established and embedded into the previously developed canine circulatory system. Using this model, the effect of the DAV on the failing heart at each rotation speed level is investigated. The vital cardiac variables are computed and compared with in vivo experimental results, which are in good agreement with an acceptable difference mostly 15 %. The establishment of the DAV model and its simulation are useful for further improvement of the DAV device.

  7. Professional parachuting: the risk of acute aortic dissection. (United States)

    Buchholz, Stefan; Quaden, René Bombien; Schmitz, Christoph; Überfuhr, Peter


    Acute aortic dissection is a rare disease, but if it occurs rapid diagnosis and therapy are needed. It is usually seen in elderly patients with long-term persistent arterial hypertension. In younger patients, it is mainly caused by congenital connective tissue disorders, such as Marfan syndrome, or by trauma. We present here a 34-year-old male patient with an acute type A aortic dissection. This patient was a professional parachutist and had carried out a large number of parachute jumps during his lifetime. He was admitted to the emergency department with acute chest pain. The symptoms were not related in time to a parachute jump. During a computed tomography scan, an aortic dissection was diagnosed. The patient was immediately referred to the operating room, and the ascending aorta was replaced by a conduit. After a regular postoperative course, the patient was discharged and recovered completely. Although acute aortic dissection is rare in young patients, it has to be considered in cases of acute chest pain. An immediate diagnosis and adequate therapy are essential to offer the patient a good clinical outcome and long-term survival.

  8. Aortic dilatation in children with systemic hypertension. (United States)

    Gupta-Malhotra, Monesha; Devereux, Richard B; Dave, Archana; Bell, Cynthia; Portman, Ronald; Milewicz, Diana


    The aim of the study was to determine the presence of aortic dilatation in hypertensive children, the prevalence of which is 4% to 10% in hypertensive adults. Prospectively enrolled multiethnic children, untreated for their hypertension, underwent an echocardiogram to exclude congenital heart disease and evaluate for end-organ damage and aortic size. The aorta was measured in the parasternal long-axis view at three levels: the sinus of Valsalva, supra-tubular junction, and the ascending aorta. Aortic dilatation was determined by z-score >2 at any one of the levels measured. Hypertension was defined as blood pressure above the 95th percentile based on the Fourth Working Group criteria confirmed by 24-hour ambulatory blood pressure monitoring. Among 142 consecutive hypertensive children (median age, 14 years; 45% females) aortic dilatation was detected in 2.8% (95% confidence interval, 1%-7%; median age, 16 years; 100% females). Children with aortic dilatation, when compared with those without, had significantly more aortic valve insufficiency (P = .005) and left ventricular hypertrophy (P = .018). Prevalence of aortic dilatation was 2.8% and was associated with significantly more aortic insufficiency and left ventricular hypertrophy in comparison to those without aortic dilatation.

  9. Aortic dissection: magnetic resonance imaging. (United States)

    Amparo, E G; Higgins, C B; Hricak, H; Sollitto, R


    Fifteen patients with suspected or known aortic dissection were imaged with magnetic resonance (MR). Thirteen of these patients were eventually shown to have dissection. In most instances the diagnosis was established by aortography and/or computed tomography (CT) prior to the MR study. Surgical proof (6/13) and/or aortographic proof (10/13) were available in 11/13 patients with aortic dissection. MR demonstrated the intimal flap and determined whether the dissection was type A or type B. In addition, MR: differentiated between the true and false lumens; determined the origins of the celiac, superior mesenteric, and renal arteries from the true or false lumen in the cases where the dissection extended into the abdominal aorta (8/12); allowed post-surgical surveillance of the dissection; and identified aortoannular ectasia in the three patients who had Marfan syndrome. In addition to the 13 cases with dissection, there were two cases in whom the diagnosis of dissection was excluded by MR. Our early experience suggests that MR can serve as the initial imaging test in clinically suspected cases of aortic dissection and that the information provided by MR is sufficient to manage many cases. Additionally, MR obviates the use of iodinated contrast media.

  10. 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


    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....

  11. Thoracic Endovascular Aortic Repair in a Patient with Mobile Aortic Thrombosis

    Directory of Open Access Journals (Sweden)

    Graham M. Lohrmann


    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.

  12. Initial Surgical Experience with Aortic Valve Repair: Clinical and Echocardiographic Results (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


    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

  13. 9.1 cm abdominal aortic aneurysm in a 69-year-old male patient

    Institute of Scientific and Technical Information of China (English)

    Celine; Saade; Bhavi; Pandya; Muhammad; Raza; Mustafain; Meghani; Deepak; Asti; Foad; Ghavami


    We are presenting a case of one of the largest unruptured abdominal aortic aneurysm ever reported. Presented here is a rare case of a 69-year-old active smoker male with history of hypertension and incidental diagnosis of abdominal aortic aneurysm of 6.2 cm in 2003, who refused surgical intervention at the time of diagnosis with continued smoking habit and was managed medically. Patient was subsequently admitted in 2012 to the hospital due to unresponsiveness secondary to hypoglycemia along with diagnosis of massive symptomatic pulmonary embolism and nonST elevation myocardial infarction. With the further inpatient workup along with known history of abdominal aortic aneurysm, subsequent computed tomography scan of abdomen pelvis revealed increased in size of infrarenal abdominal aortic aneurysm to 9.1 cm of without any signs of rupture. Patient was unable to undergo any surgical intervention this time because of his medical instability and was eventually passed away under hospice care.

  14. Right circumflex retro-oesophageal aortic arch with coarctation of a high-positioned right arch

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Kyung-Sik; Yong, Hwan Seok; Woo, Ok Hee; Kang, Eun-Young [Korea University Guro Hospital, Department of Radiology, Seoul (Korea); Lee, Joo-Won [Korea University Guro Hospital, Department of Paediatrics, Seoul (Korea)


    We present a rare case of right circumflex retro-oesophageal aortic arch with coarctation of a high-positioned right arch. A 7-month-old boy presented with a cardiac murmur. Cardiac situs was normal and there was no evidence of an intracardiac shunt or patent ductus arteriosus. MR aortography revealed a right aortic arch that was high-positioned, tortuous and narrowed. This right aortic arch crossed the midline behind the oesophagus and continued as a left-sided descending aorta. The left common carotid and subclavian arteries arose from a large branching vascular structure that derived from the top of the left-sided descending aorta. The right common carotid artery arose from the ascending aorta. The proximal portion of the right common carotid artery showed very severe stenosis and poststenotic dilatation. The right subclavian artery originated distal to the narrowed and tortuous segment of the aortic arch. (orig.)

  15. Lower respiratory tract infection and rapid expansion of an abdominal aortic aneurysm: a case report

    Directory of Open Access Journals (Sweden)

    Puppala Sapna


    Full Text Available Abstract Introduction The rate of abdominal aortic aneurysm expansion is related to multiple factors. There is some evidence that inflammation can accelerate aneurysm expansion. However, the association between pulmonary sepsis and rapid abdominal aortic aneurysm expansion is rarely reported. Case presentation Here we present a case of a rapidly expanding abdominal aortic aneurysm in a 68-year-old Caucasian man with a concomitant lower respiratory tract infection and systemic sepsis requiring intensive monitoring and urgent endovascular intervention. Our patient had an uncomplicated post-operative recovery and a follow-up computed tomography scan at one month demonstrated no evidence of an endoleak. Conclusion This case highlights the potential association between pulmonary sepsis and rapid abdominal aortic aneurysm expansion. In such cases, a policy of frequent monitoring should be adopted to identify those patients requiring definitive management.

  16. Repair of recurrent pseudoaneurysm of the mitral-aortic intervalvular fibrosa: Role of transesophageal echocardiography

    Directory of Open Access Journals (Sweden)

    Shreedhar S Joshi


    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. Aortic valve replacement for aortic stenosis with a small aortic annulus in a patient having Werner's syndrome and liver cirrhosis. (United States)

    Sogawa, M; Kasuya, S; Yamamoto, K; Koshika, M; Oguma, F; Hayashi, J


    Werner's syndrome is a rare genetic disease characterized by premature aging and scleroderma-like involvement of the skin. We report a case of aortic valve replacement for severely calcified aortic valve stenosis with a small annulus in a patient suffering from Werner's syndrome and liver cirrhosis

  18. An up-to-date overview of the most recent transcatheter implantable aortic valve prostheses. (United States)

    Wiegerinck, Esther M A; Van Kesteren, Floortje; Van Mourik, Martijn S; Vis, Marije M; Baan, Jan


    Over the past decade transcatheter aortic valve implantation (TAVI) has evolved towards the routine therapy for high-risk patients with severe aortic valve stenosis. Technical refinements in TAVI are rapidly evolving with a simultaneous expansion of the number of available devices. This review will present an overview of the current status of development of TAVI-prostheses; describes the technical features and applicability of each device and the clinical data available.

  19. Upper gastrointestinal obstruction secondary to aortoduodenal syndrome owing to a noninflammatory abdominal aortic aneurysm.

    LENUS (Irish Health Repository)

    Cahill, Kevin


    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.

  20. Repair of a penetrating ascending aortic ulcer with localized resection and extracellular matrix patch aortoplasty. (United States)

    Smith, Craig R; Stamou, Sotiris C; Boeve, Theodore J; Hooker, Robert C


    Penetrating ascending aortic ulcers are rarely encountered, yet they present significant risk of hemorrhage and aortic dissection. Expedient recognition and repair is of vital importance. The current management of penetrating ulcer of the ascending aorta includes replacement of the ascending aorta with a prosthetic graft. We describe our technique of repairing a penetrating ulcer of the ascending aorta with localized ulcer resection and extracellular matrix patch aortoplasty.

  1. Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis (United States)

    Mungee, Sudhir


    Singleton Merten syndrome (SMS) is a rare autosomal dominant genetic disorder with variable expression. Its characteristic features include abnormal aortic calcification, abnormal ossification of extremities, and dental anomalies. We present a young man with dyspnea who was noted to have aortic stenosis in the background of glaucoma, psoriasis, dental anomalies, hand and foot deformities, Achilles tendinitis, osteopenia, and nephrolithiasis. The conglomeration of features led to the diagnosis of SMS. His mother had a very similar phenotype. PMID:28321341

  2. Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis

    Directory of Open Access Journals (Sweden)

    Harshavardhan Ghadiam


    Full Text Available Singleton Merten syndrome (SMS is a rare autosomal dominant genetic disorder with variable expression. Its characteristic features include abnormal aortic calcification, abnormal ossification of extremities, and dental anomalies. We present a young man with dyspnea who was noted to have aortic stenosis in the background of glaucoma, psoriasis, dental anomalies, hand and foot deformities, Achilles tendinitis, osteopenia, and nephrolithiasis. The conglomeration of features led to the diagnosis of SMS. His mother had a very similar phenotype.

  3. Early severe coronary artery disease and aortic coarctation in a child with familial hypercholesterolaemia. (United States)

    Labib, Dina; Soliman, Haytham; Said, Kareem; Sorour, Khaled


    An 11-year-old boy presented with easy fatigability, multiple xanthomas, and absent pedal pulsations. Laboratory workup showed severe hypercholesterolaemia and non-invasive imaging revealed 'normally functioning' bicuspid aortic valve and tight aortic coarctation. Coronary angiography showed severe right coronary artery (RCA) stenosis. Medical treatment resulted in significant improvement of dyslipidaemia. We successfully performed balloon dilation and stenting of his coarctation, as well as percutaneous coronary intervention for RCA lesion.

  4. Aortoduodenal fistula following aortic reconstruction of a pseudoaneurysm caused by stab wound 12 years ago


    Zhou, Jian-Cang; Xu, Qiu-ping; Shen, Lai-gen; Pan, Kong-han; Mou, Yi-Ping


    Gastrointestinal bleeding due to aortoenteric fistula is extremely rare. Aortoenteric fistula is difficult to be diagnosed timely and entails a significant morbidity and mortality. Herein, we present an uncommon case of gastrointestinal bleeding caused by aortoduodenal fistula, which was a complication of a successful aortic reconstruction 4 months ago for an aortic pseudoaneurysm resulted from a stab wound 12 years ago. An urgent laparotomy confirmed an aortoduodenal fistula and repaired the...

  5. Aortic Valve Replacement: Treatment by Sternotomy versus Minimally Invasive Approach

    Directory of Open Access Journals (Sweden)

    Renata Tosoni Rodrigues Ferreira

    Full Text Available Abstract Objective: To compare the results of aortic valve replacement with access by sternotomy or minimally invasive approach. Methods: Retrospective analysis of medical records of 37 patients undergoing aortic valve replacement by sternotomy or minimally invasive approach, with emphasis on the comparison of time of cardiopulmonary bypass and aortic clamping, volume of surgical bleeding, time of mechanical ventilation, need for blood transfusion, incidence of atrial fibrillation, length of stay in intensive care unit, time of hospital discharge, short-term mortality and presence of surgical wound infection. Results: Sternotomy was used in 22 patients and minimally invasive surgery in 15 patients. The minimally invasive approach had significantly higher time values of cardiopulmonary bypass (114.3±23.9 versus 86.7±19.8min.; P=0.003, aortic clamping (87.4±19.2 versus 61.4±12.9 min.; P<0.001 and mechanical ventilation (287.3±138.9 versus 153.9±118.6 min.; P=0.003. No difference was found in outcomes surgical bleeding volume, need for blood transfusion, incidence of atrial fibrillation, length of stay in intensive care unit and time of hospital discharge. No cases of short-term mortality or surgical wound infection were documented. Conclusion: The less invasive approach presented with longer times of cardiopulmonary bypass, aortic clamping and mechanical ventilation than sternotomy, however without prejudice to the length of stay in intensive care unit, time of hospital discharge and morbidity.

  6. [Unicuspid Aortic Valve Stenosis Combined with Aortic Coarctation;Report of a Case]. (United States)

    Kubota, Takehiro; Wakasa, Satoru; Shingu, Yasushige; Matsui, Yoshiro


    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.

  7. IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature. (United States)

    Phillips, Katherine; Arroyo, May R; Duckworth, Lizette Vila


    We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. The first sibling was an 8-week old male diagnosed postnatally with primary adrenal insufficiency. There was no deletion of the DAX1 gene by FISH. Examination at autopsy revealed dysmorphic features including frontal bossing, epicanthal folds, flat philtrum, cryptorchidism, penile chordee, overriding fourth toe, and height and weight below 3rd percentile. Grossly, the adrenal glands were not identified; however, microscopic examination of the suprarenal soft tissue revealed a 3 mm focus of disorganized fetal adrenal cortex with distended "cytomegalic" cells with abundant pink eosinophilic cytoplasm, vesicular nuclei, and cytoplasmic vacuolization. A minute focus of permanent adult cortex was also seen, but no adrenal medulla was identified. An autopsy of the sibling, who died 12 years previously at day 9 of life, revealed dysmorphic facial features with cryptorchidism and a large phallus. The adrenal glands were grossly hypoplastic (11 mm). Histologically, the adrenal glands showed disorganized fetal cortex with cytomegalic cells, a larger amount of permanent adult cortex, and bizarre nuclei with numerous pseudoinclusions. While there is currently limited information regarding the histopathologic adrenal findings in IMAGe association, our small case series suggests overlapping features between X-linked recessive congenital adrenal hypoplasia (cytomegalic cells with lack of permanent adult cortex) and autosomal recessive congenital adrenal hypoplasia (diminished permanent adult cortex without cytomegalic cells).

  8. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations (United States)

    Fan, Chengming; Huang, Can; Liu, Jijia; Yang, Jinfu


    A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade. PMID:26294998

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

    Armién, A G; McRuer, D L; Ruder, M G; Wünschmann, A


    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 foliation. Heterotopic neurons were identified as immature Purkinje cells by their size, location, immunoreactivity for calbindin D-28 K, and ultrastructural features. The authors suggest that this cerebellar abnormality was likely due to a disruption of molecular mechanisms that dictate Purkinje cell migration, placement, and maturation in early embryonic development. The etiology of this condition remains undetermined. Congenital central nervous system disorders have rarely been reported in birds.

  10. 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)


    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.

  11. Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome. (United States)

    Moss, Robert A


    There is a growing body of literature describing cases of cognitive impairment associated with both acquired and developmental damage to the cerebellum. The current case study describes such a case involving a 17-year-old male with cerebellar hypoplasia, having incomplete formation of the vermis and atrophy of the interior cerebellar hemispheres. He had previously been diagnosed as having Asperger's Syndrome. A full neuropsychological evaluation was performed, including effort testing. This is followed by a comparison of the current results to previously reported cases, with a discussion of the heterogeneity of deficits associated with developmental cerebellum malformation.

  12. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Chengming Fan


    Full Text Available A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade.

  13. [Calcified aortic valve disease: association with atherosclerosis]. (United States)

    Toro, Rocío; Mangas, Alipio; Gómez, Francisco


    Calcified aortic valve disease (CAVD) is a prevalent condition, affecting 25% of people older than 65 years. CAVD and atherosclerosis share common risk factors and pathogenic mechanisms. Nevertheless, they present different pathologic lesions. The main factors involved in the pathogenesis of CAVD are genetic predisposition, the process of valvular calcification, deposition of lipoproteins, and chronic inflammation. Studies have suggested a potential benefit from early treatment with angiotensin converting enzyme inhibitors or angiotensin-II receptor blockers, and particularly with statins. Observational studies on risk factors for the CAVD, and randomized clinical trials on primary and secondary prevention in subjects with high risk for the disease, would be necessary to improve the clinical management of CAVD.

  14. Natural history of abdominal aortic aneurysm

    DEFF Research Database (Denmark)

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


    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...... of the patients died, and the cumulative 5-year survival rate was 15%. Aneurysm rupture was the primary cause of death. The cumulative 5-year mortality hazard rate from rupture was 0.36, corresponding to an annual risk of rupture of 7%. The cumulative 5-year hazard rate of death from all other causes was 1.......53, corresponding to an annual risk of 30%. Diameter of the aneurysm was found to be the only factor with a significant impact on the rate of rupture. The cumulative 5-year hazard rate of rupture among patients with aneurysms or = 6 cm was 0.2 and 0.6, respectively, corresponding to an annual risk...

  15. Mitral annular calcification in patients undergoing aortic valve replacement for aortic valve stenosis. (United States)

    Takami, Yoshiyuki; Tajima, Kazuyoshi


    Limited data exis t on clinical relevance of aortic valve stenosis (AVS) and mitral annular calcification (MAC), although with similar pathophysiologic basis. We sought to reveal the prevalence of MAC and its clinical features in the patients undergoing aortic valve replacement (AVR) for AVS. We reviewed 106 consecutive patients who underwent isolated AVR from 2004 to 2010. Before AVR, CT scans were performed to identify MAC, whose severity was graded on a scale of 0-4, with grade 0 denoting no MAC and grade 4 indicating severe MAC. Echocardiography was performed before AVR and at follow-up over 2 years after AVR. MAC was identified in 56 patients with grade 1 (30 %), 2 (39 %), 3 (18 %), and 4 (13 %), respectively. Patients with MAC presented older age (72 ± 8 versus 66 ± 11 years), higher rate of dialysis-dependent renal failure (43 versus 4 %), and less frequency of bicuspid aortic valve (9 versus 36 %), when compared to those without MAC. No significant differences were seen in short- and mid-term mortality after AVR between the groups. In patients with MAC, progression of neither mitral regurgitation nor stenosis was observed at follow-up of 53 ± 23 months for 102 survivors, although the transmitral flow velocities were higher than in those without MAC. In conclusion, MAC represented 53 % of the patients undergoing isolated AVR for AVS, usually appeared in dialysis-dependent elder patients with tricuspid AVS. MAC does not affect adversely upon the survival, without progression of mitral valve disease, at least within 2 years after AVR.

  16. Severe aortic stenosis: diagnosis, treatment and prognosis

    NARCIS (Netherlands)

    M.W.A. van Geldorp (Martijn)


    textabstractDegenerative aortic stenosis is the most common valvular heart disease in developed countries. The prevalence of severe aortic stenosis increases with age from 1% in people below 65 years of age to nearly 6% in people over the age of 85. Since the population life expectancy continues to

  17. Transcatheter Aortic Valve Replacement in Europe

    DEFF Research Database (Denmark)

    Mylotte, Darren; Osnabrugge, Ruben L J; Windecker, Stephan;


    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....

  18. Thoracic aortic catastrophes : towards the endovascular solution

    NARCIS (Netherlands)

    Jonker, F.H.W.


    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 cat

  19. Thoraco-abdominal aortic aneurysm branched repair

    NARCIS (Netherlands)

    Verhoeven, E. L. G.; Tielliu, I. F. J.; Ferreira, M.; Zipfel, B.; Adam, D. J.


    Open thoraco-abdominal aortic aneurysm repair is a demanding procedure with high impact on the patient and the operating team. Results from expert centres show mortality rates between 3-21%, with extensive morbidity including renal failure and paraplegia. Endovascular repair of abdominal aortic aneu

  20. The origin and significance of secondary flows in the aortic arch. (United States)

    Black, M M; Hose, D R; Lawford, P V


    This paper comprises a study of the secondary flow patterns that can develop in the human aortic arch. Clinical evidence of these secondary flows has been obtained by Kilner et al. using magnetic resonance velocity mapping techniques. Some of their results are presented for comparison in this paper. Four difference parametric models of the aortic arch have been analysed using computational fluid dynamic techniques. Both steady and transient flow conditions have been considered and two different commercially available software packages were used, namely FIDAP and FLOTRAN. A satisfactory comparison of the theoretical analysis with the results, both in vivo and in vitro, obtained by Kilner et al. for their out-of-plane inlet model was found. The theoretical analysis can now be extended to analyse the effect of different configurations and orientations of artificial aortic valves on the resulting aortic arch flow patterns.

  1. Mycotic Saccular Abdominal Aortic Aneurysm in an Infant after Cardiac Catheterization: A Case Report. (United States)

    Benrashid, Ehsan; McCoy, Christopher C; Rice, Henry E; Shortell, Cynthia K; Cox, Mitchell W


    Abdominal aortic aneurysms (AAAs) are a rare entity in the pediatric population. Children with mycotic (infectious) AAA in particular are at risk of life-threatening rupture due to their rapid expansion coupled with aortic wall thinning and deterioration. Here, we present the case of a 10-month-old infant with prior 2-staged repair for hypoplastic left heart syndrome that was incidentally discovered to have a mycotic AAA on abdominal ultrasound (US) for evaluation of renovascular hypertension. Before the time of evaluation with US, the infant had developed methicillin-resistant Staphylococcus aureus bacteremia 3 days after cardiac catheterization with percutaneous thoracic aortic balloon angioplasty. She had normal aortic contours on contrasted computed tomography scan of the abdomen approximately 2 weeks before the aforementioned US evaluation. This infant subsequently underwent open aneurysmorrhaphy with cryopreserved vein patch angioplasty with resolution of her aneurysmal segment.

  2. Pitfalls in Suspected Acute Aortic Syndrome: Impact of Appropriate and If Required Repeated Imaging

    Directory of Open Access Journals (Sweden)

    C. Meier


    Full Text Available The incidence of acute aortic syndrome is low, but the spontaneous course is often life-threatening. Adequate ECG-gated imaging is fundamental within the diagnostic workup. We here report a case of a 53-year-old man presenting with atypical chest pain, slight increase of D dimers at admission, and extended diameter of the ascending aorta accompanied by mild aortic regurgitation. Interpretation of an initial contrast-enhanced computed tomography was false negative due to inadequate gating and motion artifacts, thereby judging a tiny contrast signal in the left anterior quadrant of the ascending aorta as a pseudointimal flap. By hazard, cardiac magnetic resonance imaging demonstrated an ulcer-like lesion superior to the aortic root, leading to aortic surgery at the last moment. As sensitivity of imaging is not 100%, this example underlines that second imaging studies might be necessary if the first imaging is negative, but the clinical suspicion still remains high.

  3. Combined surgical and endovascular approach to treat a complex aortic coarctation without extracorporeal circulation. (United States)

    Carrel, Thierry P; Berdat, Pascal A; Baumgartner, Iris; Dinkel, Hans-Peter; Schmidli, Jürg


    Various therapeutic approaches have been proposed to treat complex coarctation of the aorta (eg, recoarctation, which requires repetitive interventions, or coarctation with a hypoplastic aortic arch). Resection followed by end-to-end anastomosis or by graft interposition is technically demanding and exposes the patient to considerable perioperative risks. Cardiopulmonary bypass and deep hypothermic circulatory arrest may be necessary to control the distal aortic arch. The role of stent technology in treating this type of lesion has not yet been defined. We present a 21-year-old woman with a recurrent coarctation of the aorta associated with a hypoplastic aortic arch and a pseudoaneurysm of the proximal descending aorta. She had undergone 4 previous interventions. Treatment consisted of a combined surgical and endovascular approach without cardiopulmonary bypass and included extraanatomic aortic bypass, partial debranching of the supraaortic vessels, and stent-graft insertion to exclude the aneurysm.

  4. Aortic dilatation in Turner syndrome: the role of MRI in early recognition

    Energy Technology Data Exchange (ETDEWEB)

    Chalard, Francois; Ferey, Solene; Kalifa, Gabriel [Saint Vincent de Paul Hospital, Department of Paediatric Radiology, Paris Cedex 14 (France); Teinturier, Cecile [Saint Vincent de Paul Hospital, Department of Paediatric Endocrinology, Paris (France)


    Aortic dilatation and dissection are rare but important complications of Turner syndrome that increase the risk of sudden death in young patients. To assess the value of aortic MRI in patients with Turner syndrome; in particular to demonstrate early aortic dilatation. A total of 21 patients with Turner syndrome underwent MRI of the thoracic aorta with measurement of vessel diameter at four levels. Measurements were normal for age in 15 cases, two patients presented with values at the upper limit of normal and four had obvious dilatation of the ascending aorta. All were symptom free. MRI allows the non-invasive demonstration of early aortic dilatation, which may lead to earlier surgery in asymptomatic individuals. (orig.)

  5. Trends in pediatric ostomy surgery: intestinal diversion for necrotizing enterocolitis and biliary diversion for biliary hypoplasia syndromes. (United States)

    Bastawrous, A A; Torosian, M B; Statter, M B; Arensman, R M


    Ostomies are placed in children for different indications than in the older population. Many ostomies of childhood are placed because of congenital or neonatal problems that require temporary or long-term diversion to stabilize the neonatal patient. Necrotizing enterocolitis, the most common reason for placement of neonatal colostomies and ileostomies, is increasing in frequency as more prematurely born infants survive. Recently, there has been an increase in treatment of various biliary hypoplasia syndromes with biliary cutaneous diversion. Children with biliary hypoplasia syndromes are a challenging group of patients who frequently can be helped by ostomies. This article reviews current information on biliary cutaneous diversion for the biliary hypoplasia syndromes and intestinal diversion for necrotizing enterocolitis.

  6. Valvular and aortic diseases in osteogenesis imperfecta. (United States)

    Lamanna, Arvin; Fayers, Trevor; Clarke, Sophie; Parsonage, William


    Osteogenesis imperfecta (OI) is an inheritable connective tissue disorder caused by defective collagen synthesis with the principal manifestations of bone fragility. OI has been associated with left sided valvular regurgitation and aortic dilation. Valve and aortic surgery are technically feasible in patients with OI but are inherently high risk due to the underlying connective tissue defect. This report reviews the valvular and aortic pathology associated with OI and their management. We describe two cases of patients with OI who have significant aortic and mitral valve regurgitation, one of whom has been managed conservatively and the other who has undergone successful mitral valve repair and aortic valve replacement. The latter case represents the fifth case of mitral valve repair in a patient with OI reported in the medical literature.

  7. Stroke in Patients With Aortic Stenosis

    DEFF Research Database (Denmark)

    Greve, Anders Møller; Dalsgaard, Morten; Bang, Casper N


    BACKGROUND AND PURPOSE: There are limited data on risk stratification of stroke in aortic stenosis. This study examined predictors of stroke in aortic stenosis, the prognostic implications of stroke, and how aortic valve replacement (AVR) with or without concomitant coronary artery bypass grafting...... influenced the predicted outcomes. METHODS: Patients with mild-to-moderate aortic stenosis enrolled in the Simvastatin and Ezetimibe in Aortic Stenosis (SEAS) study. Diabetes mellitus, known atherosclerotic disease, and oral anticoagulation were exclusion criteria. Ischemic stroke was the primary end point...... death (HR, 8.1; 95% CI, 4.7-14.0; Paortic stenosis not prescribed oral anticoagulation, atrial fibrillation, AVR with concomitant coronary artery bypass grafting, and CHA2DS2-VASc score were the major predictors of stroke. Incident stroke was strongly associated...

  8. Transcatheter aortic valve replacement in elderly patients

    Institute of Scientific and Technical Information of China (English)

    Dimytri Siqueira; Alexandre Abizaid; Magaly Arrais J.; Eduardo Sousa


    Aortic stenosis is the most common native valve disease, affecting up to 5% of the elderly population. Surgical aortic valve replacement reduces symptoms and improves survival, and is the definitive therapy in patients with symptomatic severe aortic stenosis. However, despite the good results of classic surgery, risk is markedly increased in elderly patients with co-morbidities. Transcatheter aortic valve replacement (TAVR) allows implantation of a prosthetic heart valve within the diseased native aortic valve without the need for open heart surgery and cardiopulmonary bypass, offering a new therapeutic option to elderly patients considered at high surgical risk or with contraindications to surgery. To date, several multicenter registries and a randomized trial have confirmed the safety and efficacy of TAVR in those patients. In this chapter, we review the background and clinical applications of TAVR in elderly patients.

  9. Stenting for infantile adult aortic coarctation with successful conception of zygomatic twins at 4 years' post-intervention.

    LENUS (Irish Health Repository)

    Waters, Peadar S


    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.

  10. Redo sternotomy for extra-anatomical correction of aortic coarctation and mitral repair in an adult after failed endovascular treatment. (United States)

    Ozker, E; Saritas, B; Vuran, C; Yoruker, U; Kocyigit, O I; Turkoz, R


    Recently, extra-anatomical bypass surgery has been widely used in complicated adult aortic coarctation cases with concomitant intracardiac repair. Stent implantation has been widely used for primary aortic coarctation as well. The procedure has been shown to be effective with long term follow ups. However, failed stent implantations like stent fracture and dislodgement may complicate the clinical status and subsequent surgical procedure. Extra-anatomic bypass can provide effective results and lower morbidity in cases with concomitant intracardiac problems and stent failure. Here we present an adult aortic coarctation patient who had undergone a Bentall operation and two unsuccessful stent implantations for recurrent aortic coarctation. The patient then got an extra-anatomic bypass for aortic coarctation and concomitant mitral valve commissurotomy through median sternotomy.

  11. Bicuspid aortic valve hemodynamics does not promote remodeling in porcine aortic wall concavity

    Institute of Scientific and Technical Information of China (English)

    Samantha K Atkins; Alison N Moore; Philippe Sucosky


    AIM: To investigate the role of type-I left-right bicuspid aortic valve(LR-BAV) hemodynamic stresses in the remodeling of the thoracic ascending aorta(AA) concavity, in the absence of underlying genetic or structural defects.METHODS: Transient wall shear stress(WSS) profiles in the concavity of tricuspid aortic valve(TAV) and LR-BAV AAs were obtained computationally. Tissue specimens excised from the concavity of normal(nondilated) porcine AAs were subjected for 48 h to those stress environments using a shear stress bioreactor. Tissue remodeling was characterized in terms of matrix metalloproteinase(MMP) expression and activity via immunostaining and gelatin zymography.RESULTS: Immunostaining semi-quantification results indicated no significant difference in MMP-2 and MMP-9 expression between the tissue groups exposed to TAV and LR-BAV AA WSS(P = 0.80 and P = 0.19, respectively). Zymography densitometry revealed no difference in MMP-2 activity(total activity, active form and latent form) between the groups subjected to TAV AA and LR-BAV AA WSS(P = 0.08, P = 0.15 and P = 0.59, respectively).CONCLUSION: The hemodynamic stress environment present in the concavity of type-I LR-BAV AA does not cause any significant change in proteolytic enzyme expression and activity as compared to that present in the TAV AA.

  12. [Modern aortic surgery in Marfan syndrome--2011]. (United States)

    Kallenbach, K; Schwill, S; Karck, M


    Marfan syndrome is a hereditary disease with a prevalence of 2-3 in 10,000 births, leading to a fibrillin connective tissue disorder with manifestations in the skeleton, eye, skin, dura mater and in particular the cardiovascular system. Since other syndromes demonstrate similar vascular manifestations, but therapy may differ significantly, diagnosis should be established using the revised Ghent nosology in combination with genotypic analysis in specialized Marfan centres. The formation of aortic root aneurysms with the subsequent risk of acute aortic dissection type A (AADA) or aortic rupture limits life expectancy in patients with Marfan syndrome. Therefore, prophylactic replacement of the aortic root needs to be performed before the catastrophic event of AADA can occur. The goal of surgery is the complete resection of pathological aortic tissue. This can be achieved with excellent results by using a (mechanically) valved conduit that replaces both the aortic valve and the aortic root (Bentall operation). However, the need for lifelong anticoagulation with Coumadin can be avoided using the aortic valve sparing reimplantation technique according to David. The long-term durability of the reconstructed valve is favourable, and further technical improvements may improve longevity. Although results of prospective randomised long-term studies comparing surgical techniques are lacking, the David operation has become the surgical method of choice for aortic root aneurysms, not only at the Heidelberg Marfan Centre. Replacement of the aneurysmal dilated aortic arch is performed under moderate hypothermic circulatory arrest combined with antegrade cerebral perfusion using a heart-lung machine, which we also use in thoracic or thoracoabdominal aneurysms. Close post-operative follow-up in a Marfan centre is pivotal for the early detection of pathological changes on the diseased aorta.

  13. 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


    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

  14. Ductal Stent Implantation in Tetralogy of Fallot with Aortic Arch Abnormality (United States)

    Ergul, Yakup; Saygi, Murat; Ozyilmaz, Isa; Guzeltas, Alper; Odemis, Ender


    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

  15. Reoperation on aortic disease in patients with previous aortic valve surgery

    Institute of Scientific and Technical Information of China (English)

    SUN Xiao-gang; ZHANG Liang; YU Cun-tao; QIAN Xiang-yang; CHANG Qian


    Background Aortic valve replacement (AVR) is a safe and effective method in the treatment of aortic valve diseases.This study aimed to increase the understanding on re-treatment of aortic diseases after aortic valve surgery through a retrospective analysis of 47 related cases.Methods Forty-seven patients (38 males and 9 females) with previous aortic valve surgery have received reoperation on aorta from January 2003 to June 2012,and the mean interval time of re-intervention to aortic disease was 6 years ((6.0± 3.8) years).The secondary aortic surgery included aortic root replacement (14 cases),ascending aorta replacement (10 cases),aortic root/ascending aorta plus total arch replacement with stented elephant trunk implantation (21 cases),and total thoracoabdominal aorta replacement (2 cases).All these patients have received outpatient re-exams or follow-up by phone calls.Results After the initial aortic valve replacement,patients suffered from aortic dissection (25 cases,53%),ascending aortic aneurysm (12 cases,26%) or aortic root aneurysm (10 cases,21%).Diameter in ascending aorta increased (5.2±7.1) mm per year and aortic sinus (3.3±3.1) mm per year.The annual growth value of diameter in ascending aorta was higher in patients with rheumatic heart disease than that in Marfan syndrome (P<0.05).All 47 patients have received reoperation on aorta.One patient died in operating room because aortic dissection seriously involved right coronary artery.Seven patients had renal insufficiency after operation; neurological complications occurred in 14 patients including 7 patients with stroke and the others with transient brain dysfunction.All patients were followed up,the mean survival time was (97.25±17.63) months,95% confidence interval was 55.24-73.33 months.Eight cases were died during follow-up and five-year survival rate was 83%.Conclusion To reduce the aortic adverse events after first aortic valve surgery,it is necessary to actively treat and strictly

  16. 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. (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


    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.

  17. Perceval S aortic valve implantation in an achondroplastic Dwarf

    Directory of Open Access Journals (Sweden)

    Nikolaos G Baikoussis


    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.

  18. Successful Anticoagulation Therapy for Antiphospholipid Syndrome with Mobile Aortic Thrombi (United States)

    Park, Hyun Oh; Moon, Seong Ho; Kim, Jong Woo; Byun, Joung Hun; Kim, Sung Hwan; Yang, Jun Ho; Lee, Chung-Eun; Kim, Jong-Duk


    Hypercoagulable states have been associated with aortic thrombosis. Antiphospholipid syndrome (APS) is one of the commonest types of acquired thrombophilia. We report the case of successful anticoagulation management in an APS patient with mobile thrombi within the aorta. A 58-year-old male patient presented to the emergency department (ED) with right-sided hemiparesis. His first symptoms were noted approximately 12–16 hours before presentation to the ED. Magnetic resonance imaging of the brain showed acute embolic infarction of the left frontal and parietotemporal lobes. Transesophageal echocardiography (TEE) and computed tomography angiography (CTA) demonstrated mobile thrombi attached to the wall of the ascending aorta and aortic arch. The patient was diagnosed with APS based on positivity of anti-beta-2 glycoprotein 1 antibodies, and was initiated on anticoagulation therapy. Repeated TEE and CTA revealed complete resolution of the thrombi after 12 days of treatment; the patient was discharged well. PMID:28042559

  19. Quantitative image analysis for planning of aortic valve replacement

    NARCIS (Netherlands)

    Elattar, M.A.I.M.


    Aortic stenosis is the most common and frequent cause of sudden death among all valvular heart diseases. Symptomatic aortic stenosis is considered to be a fatal disease if left untreated. Aortic valve replacement is the mainstay of treatment of symptomatic aortic stenosis. Traditional treatment of s

  20. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    DEFF Research Database (Denmark)

    Lardelli, Rea M.; Schaffer, Ashleigh E.; Eggens, Veerle R C


    Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg 2+ -dependent 3'-end RNases with substrate specificity that is mostly unknown. Pontocerebellar hypoplasia type 7 (PCH7) is a un......Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg 2+ -dependent 3'-end RNases with substrate specificity that is mostly unknown. Pontocerebellar hypoplasia type 7 (PCH7...