Double chamber right ventricle in Williams syndrome: a rare cardiac anomaly reported

Mazumdar, Jayitri; Sarkar, Ranu; Badveli, Anusha; Majumder, Biswajit

doi:10.1186/s40064-016-1897-y

Cited by 7 publications

(5 citation statements)

References 7 publications

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“…Reference lists of journal studies were used to find further relevant journal articles. After obtaining journal permissions, photos of individuals with WBS were used to supplement study participants described below (Delgado et al, 2013; Honjo et al, 2015; Jiang & Liu, 2015; Lumaka et al, 2016; Mazumdar, Sarkar, Badveli, & Majumder, 2016; Morris, 1993, 2010; Patil, Madhusudhan, Shah, & Suresh, 2012; Sakhuja, Whyte, Kamath, Martin, & Chitayat, 2015; Smoot, Zhang, Klaiman, Schultz, & Pober, 2005; Tekendo-Ngongang et al, 2014; van Kogelenberg et al, 2010; Wu et al, 2002).…”

Section: Methodsmentioning

confidence: 99%

Williams–Beuren syndrome in diverse populations

Kruszka

Porras

Souza

et al. 2018

American J of Med Genetics Pt A

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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.

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Section: Methodsmentioning

confidence: 99%

Williams–Beuren syndrome in diverse populations

Kruszka

Porras

Souza

et al. 2018

American J of Med Genetics Pt A

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“…Common pulmonary vein and left atrium anastomosis, and chordal reconstruction; repaired with the aid of hypothermic circulatory arrest Mazumdar et al 44 1 Double chambered right ventricle + coronary artery aneurysms (n = 1) 17 . Additionally, risks of anesthesia included craniofacial features causing difficult ventilation and tracheal intubation, variable reaction to neuromuscular blockade, and endocrine and metabolic disorders, which led to impaired hepatic drug metabolism and poor temperature regulation as have been indicated by Del Pasqua et al 6 Moreover, Yuan et al's 56 follow-up study revealed longterm sequelae of surgical resection, such as recurrence of SVAS, which might warrant reintervention.…”

Section: -Patch Techniquementioning

confidence: 99%

Congenital heart defects in Williams syndrome

Yuan¹

2017

Turk J Pediatr

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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.

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“…Hemizygosity of the ELN gene coding elastin has been demonstrated to be responsible for the vascular, and in part the cardiac, pathology in WBS; however, the mechanism is still unclear (Keating, ). Additionally, a double chamber right ventricle has been reported in relation to WBS (Mazumdar et al, ).…”

Section: Discussionmentioning

confidence: 99%

Rare copy number variants in a population‐based investigation of hypoplastic right heart syndrome

Dimopoulos

Sicko

Kay

et al. 2017

Birth Defects Research

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Background Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. Methods We genotyped 32 HRHS cases identified from all New York State live births (1998–2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3 and CHOP database. Results We identified 28 CNVs in 17 cases; several encompassed genes important for right heart development. One case had a 2p16–2p23 duplication spanning LBH, a limb and heart development transcription factor. Lbh mis-expression results in right ventricular hypoplasia and pulmonary valve defects. This duplication also encompassed SOS1, a factor associated with pulmonary valve stenosis in Noonan syndrome. Sos1−/− mice display thin and poorly trabeculated ventricles. In another case, we identified a 1.5Mb deletion associated with Williams Beuren syndrome, a disorder that includes valvular malformations. A third case had a 24Kb deletion upstream of the TGFβ ligand ITGB8. Embryos genetically null for Itgb8, and its intracellular interactant Band 4.1B, display lethal cardiac phenotypes. Conclusions To our knowledge, this is the first study of CNVs in HRHS. We identified several rare CNVs that overlap genes related to right ventricular wall and valve development, suggesting that genetics plays a role in HRHS and providing clues for further investigation.

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Double chamber right ventricle in Williams syndrome: a rare cardiac anomaly reported

Cited by 7 publications

References 7 publications

Williams–Beuren syndrome in diverse populations

Williams–Beuren syndrome in diverse populations

Congenital heart defects in Williams syndrome

Rare copy number variants in a population‐based investigation of hypoplastic right heart syndrome

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