Spontaneous pulmonary artery aneurysm in a case of Williams syndrome

A 9-year-old-boy with characteristic facies (broad forehead, periorbital fullness, upturned nose, long philtrum, full lips, small chin, and prominent cheeks) (Figure 1) and presenting with progressive dyspnea and mental retardation underwent transthoracic echocardiography, which revealed supravalvular aortic stenosis (SVAS). For further evaluation, he was referred for computed tomography angiography (CTA) which demonstrated diffuse, long-segment stenosis of the ascending aorta along with significant ostioproximal stenosis of the right brachiocephalic artery and left common carotid artery with diffuse dilatation of the post-ostial segments (Figure 2A-B).
Source: Journal of Cardiovascular Computed Tomography - Category: Radiology Authors: Tags: Case report Source Type: research

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Authors: Shin HJ, Shin JS Abstract Supravalvar aortic stenosis (SVAS) is a rare congenital cardiac disease that usually co-occurs with Williams syndrome. In the adult population, a few SVAS cases have been reported in patients affected by homozygous familial hypercholesterolemia. However, because of the rarity of this disease entity, there is no standard surgical treatment for SVAS. Here, we present a case of successful surgical treatment using an autologous excised aortic patch in a 65-year-old patient with SVAS. PMID: 32551296 [PubMed]
Source: Korean Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Tags: Korean J Thorac Cardiovasc Surg Source Type: research
Williams syndrome (WS) is a relatively rare congenital disorder which manifests across multiple organ systems with a wide spectrum of severity. Cardiovascular anomalies are the most common and concerning manifestations of WS, with supravalvar aortic stenosis present in up to 70% of patients with WS. Although a relatively rare disease, these patients frequently require sedation or anesthesia for a variety of medical procedures. The risk of sudden death in this population is 25 to 100 times that of the general population, with many documented deaths associated with sedation or anesthesia.
Source: Journal of Cardiothoracic and Vascular Anesthesia - Category: Anesthesiology Authors: Tags: Review Article Source Type: research
AbstractWilliams syndrome is a genetic disorder associated with various cardiovascular abnormalities, most commonly supravalvar aortic stenosis and peripheral pulmonary stenosis. However, isolated severe mitral regurgitation necessitating surgical intervention is extremely rare. Here, we present the case of a 14 ‐year‐old child with Williams syndrome and isolated severe mitral regurgitation who underwent successful mitral valve repair.
Source: Journal of Cardiac Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: CASE REPORT Source Type: research
In this study we sought to evaluate long-term outcomes of SVAS repair.MethodsA total of 87 patients underwent surgical repair of congenital SVAS at our institution between 1997 and 2017. Forty one patients had Williams syndrome and 46 patients were non-Williams syndrome of which 23 sporadic SVAS and 13 familial elastin arteriopathy. Demographic data and outcomes were reviewed and analyzed from medical records.ResultsThe median age at operation was 2.9 years. Mean z-score of sinotubular junction was -3.29 ± 1.42 and aortic root was -0.09 ± 1.19. Twenty six percent (n=22) patients had coronary ostium stenosis a...
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
In this study we sought to evaluate long-term outcomes of SVAS repair. METHODS: A total of 87 patients underwent surgical repair of congenital SVAS at our institution between 1997 and 2017. Forty one patients had Williams syndrome and 46 patients were non-Williams syndrome of which 23 sporadic SVAS and 13 familial elastin arteriopathy. Demographic data and outcomes were reviewed and analyzed from medical records. RESULTS: The median age at operation was 2.9 years. Mean z-score of sinotubular junction was -3.29 ± 1.42 and aortic root was -0.09 ± 1.19. Twenty six percent (n=22) patients had coronary o...
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: Ann Thorac Surg Source Type: research
Purpose of review Williams syndrome is a multisystem disorder seen with some regularity at most pediatric centers and usually fairly often at larger centers. Cardiovascular abnormalities, because of elastin deficiency, are the leading cause of morbidity and mortality in patients with Williams syndrome. The present article presents a review of the most recent developments regarding the cardiovascular issues in Williams syndrome. Recent findings Cardiovascular abnormalities occur in 80% of patients with Williams syndrome, the majority of which are arterial stenoses. The stenoses seen in Williams syndrome now appear to a...
Source: Current Opinion in Pediatrics - Category: Pediatrics Tags: CARDIOVASCULAR MEDICINE: Edited by Daniel Bernstein Source Type: research
CONCLUSIONS: Our findings regarding the type and prevalence of medical, cognitive, and psychiatric characteristics in WS correspond to results in previous publications. We also showed a potential link between phonophobia and ADHD that merits further research. PMID: 29911759 [PubMed - in process]
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
New !!! Cardiology MCQs from Cardiophile MD – Volume 3: Interactive Kindle Edition Cardiology MCQs from Cardiophile MD – Volume 3 Paperback Which of the following is not a part of Williams syndrome? Correct answer: d) Valvar pulmonary stenosis Williams syndrome is characterised by supravalvar aortic stenosis, elfin facies and hypercalcemia. Learning disability is often associated. Peripheral pulmonary stenosis is also an association. In supravalvar aortic stenosis, the right upper limb blood pressure can be more than that in left upper limb (anisopsphygmia) because the jet is directed towards the brachiocephal...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: Cardiology MCQ DM / DNB Cardiology Entrance Source Type: blogs
Which of the following is not a part of Williams syndrome? a) Supravalvar aortic stenosis b) Elfin facies c) Hypercalcemia d) Valvar pulmonary stenosis Post your answer as a comment below. Correct answer will be published on: May 14, 2018 @ 22:21 The post Williams syndrome – Cardiology MCQ appeared first on Cardiophile MD.
Source: Cardiophile MD - Category: Cardiology Authors: Tags: General Cardiology Source Type: blogs
il;icek A, Onan B Abstract Williams syndrome is a rare neurodevelopmental disorder characterized by mental retardation, growth deficiency, hypercalcemia, cardiac defects, and a distinctive facial appearance. Cardiovascular abnormalities are present in approximately 80% of Williams syndrome patients. Surgical treatment is generally performed for supravalvular aortic stenosis, aortic coarctation, pulmonary artery stenosis, or ventricular septal defect. In rare cases, diffuse hypoplasia of the aortic arch with a normal left ventricular outflow tract and ascending aorta may be diagnosed in early childhood. Described h...
Source: Turk Kardiyoloji Dernegi arsivi - Category: Cardiology Authors: Tags: Turk Kardiyol Dern Ars Source Type: research
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