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Color Doppler echocardiography of parasternal short axis view with leftward swept showing turbulent flow across the DCRV and mild tricuspid regurgitation along with left coronary artery aneurysm (white arrowhead)
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Cardiovascular abnormality is the most consistent finding and occur in almost 80 % of all Williams syndrome (WS). Although a number of cardiovascular defects are common to WS, the majority presents in some form of arterial stenosis whereas supravalvular aortic stenosis is the most common one. Here we describe a 12 year old boy with elfin facies, pr...
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Background
Pulseless electrical activity cardiac arrest is associated with poor outcomes and the identification of potentially reversible reasons for cardiac arrest is fundamental.
Case presentation
We describe the case of a 46-year-old male with the rare coincidental finding of supravalvular aortic stenosis and coronary vasospasm leading to recur...
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,...
Williams syndrome is a rare genetic disorder also called as Williams-Beuren syndrome. It causes many developmental problems. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder on to each of their children. Williams syndrome occurs in about 1 in 8,000 births. Fac...
Citations
... The prognosis for patients with untreated right ventricular outflow tract obstruction is similar to that of patients with valvular pulmonary stenosis, requiring surgery when the obstruction is moderate to severe. 8 Here, we report a case of a 47-year-old male with "right atrial mass" and AF who underwent surgery in our hospital 10 years ago for congenital heart disease-double-chambered right ventricle. The patient was considered to have a mucinous tumor on preoperative echocardiography, but the diagnosis of "right atrial thrombus" was confirmed by intraoperative exploration and postoperative pathology of the mass. ...
Right atrial thrombosis, which occurs alone, is rare in clinical practice. Its incidence and mechanism are unclear, but susceptibility factors are usually present at its occurrence: ischemic heart disease, heart failure, atrial fibrillation, and chronic kidney disease. Complete isolated right atrial thrombosis rarely occurs. We report here a 47-year-old male patient with a right atrial mass on cardiac ultrasound and chest computed tomography (CT) and a history of previous right heart surgery with type 2 diabetes mellitus and atrial fibrillation, complaining of "chest tightness and shortness of breath after activity for half a month." The patient was admitted to the hospital and underwent right atrial mass resection, and the postoperative pathology showed "right atrial thrombus." As right atrial thrombus is very rare and can be a serious threat to life when it occurs in the heart, the prevention and treatment of right atrial thrombus are very important. Based on the analysis of this case, we believe that for patients with special medical history such as "post right heart surgery and atrial fibrillation," we need to be vigilant for atrial thrombosis.
... The risk of cardiovascular events in the periprocedural period can likely be mitigated against in patients with Williams syndrome using a risk stratification plan and periprocedural management algorithm. [13,16,17] Peripheral pulmonary artery stenosis 37-61% [13,17,18] Long-segment stenosis of the thoracic aorta a 6-14% [17,19] Ventricular septal defect 8-21% [13,17] Supravalvar pulmonary stenosis 12% [12] Abnormal mitral valve 20% [13] Mitral valve prolapse 15% [20,21] Mitral valve regurgitation 14% [21] Abnormal aortic valve 18% [13] Aortic insufficiency 10% [13] Abnormal aortic valve cusps 7% [13] Bicuspid aortic valve 5-12% [13,20] Valvar aortic stenosis 4% [13] Coronary artery anomalies 11-27% [13,22] Ostial stenosis 5-9% [12,13] Dilated coronary arteries b 19-23% [22,23] ALCAPA Rare [12] Atrial septal defect 3-6% [13,17] Ebstein anomaly Rare [24][25][26] Tetralogy of Fallot Rare [17,27,28] Total anomalous pulmonary venous return Rare [29][30][31] Complete atrioventricular canal defect Rare [32] Double-chambered right ventricle Rare [33] Aortopulmonary window Rare [15] Interrupted aortic arch Rare [34] Pulmonary artery sling Rare [35] a Long-segment stenosis of the thoracic aorta is often incorrectly referred to as coarctation of the aorta. b In cases of severe supravalvar aortic stenosis; ALCAPA, anomalous left coronary artery arising from the pulmonary artery. ...
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 arise from deficient circumferential arterial growth. Pharmacological therapies aimed at improving the vascular stenoses have shown some promise in animal models. Surgical outcomes for supravalvar aortic stenosis are good at most centers. Transcatheter interventions are largely ineffective in Williams syndrome. Multilevel surgical pulmonary artery reconstruction has excellent results for peripheral pulmonary artery stenosis. Periprocedural risk stratification and management algorithms may decrease the risk of cardiovascular complications.
Summary:
Cardiovascular abnormalities are a major determining factor in the clinical picture and trajectory of patients with Williams syndrome. Advances in surgical techniques, medical therapeutic options, and periprocedural management hold promise for significant improvements in the cardiovascular outcomes of these patients.
Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P‐value < 0.001 for all comparisons), with accuracies for Caucasian, African, Asian, and Latin American groups of 0.92, 0.96, 0.92, and 0.93, respectively. In summary, we present consistent clinical findings from global populations with WBS and demonstrate how facial analysis technology can support clinicians in making accurate WBS diagnoses.
Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.
