Mitral valve diseases in Williams syndrome-case report and review of the literature

Prabesh Bajracharya, Sonal Bhatnagar, Linda B. Pauliks

Research output: Contribution to journalReview article

7 Citations (Scopus)

Abstract

Williams syndrome is a genetic syndrome involving an unusual facies, short stature, developmental delay and heart defects. There is a genetic marker for this disease. Williams syndrome is frequently associated with congenital heart defects. The most common cardiac diagnoses are supravalve aortic stenosis, supravalve pulmonic stenosis, and arterial hypertension. In contrast, the association of mitral valve prolapse with Williams syndrome is less well defined. We present a case of a 15-year-old girl with Williams syndrome who underwent successful mitral valve repair. Review of the echocardiographic database of our institution over a 10-year period identified 26 other patients with Williams syndrome. Overall, 10 of the 27 children with Williams syndrome had mitral valve disease (37%) including 9 patients with mitral valve prolapse and one with mitral insufficiency. In conclusion, patients with Williams syndrome should be examined for mitral valve disease. Mitral valve repair is feasible and may be considered in the growing child with Williams syndrome.

Original languageEnglish (US)
JournalEchocardiography
Volume28
Issue number8
DOIs
StatePublished - Sep 1 2011

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Williams Syndrome
Mitral Valve
Mitral Valve Prolapse
Inborn Genetic Diseases
Pulmonary Valve Stenosis
Congenital Heart Defects
Aortic Valve Stenosis
Mitral Valve Insufficiency
Genetic Markers
Databases
Hypertension

All Science Journal Classification (ASJC) codes

  • Radiology Nuclear Medicine and imaging
  • Cardiology and Cardiovascular Medicine

Cite this

Bajracharya, Prabesh ; Bhatnagar, Sonal ; Pauliks, Linda B. / Mitral valve diseases in Williams syndrome-case report and review of the literature. In: Echocardiography. 2011 ; Vol. 28, No. 8.
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Mitral valve diseases in Williams syndrome-case report and review of the literature. / Bajracharya, Prabesh; Bhatnagar, Sonal; Pauliks, Linda B.

In: Echocardiography, Vol. 28, No. 8, 01.09.2011.

Research output: Contribution to journalReview article

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AB - Williams syndrome is a genetic syndrome involving an unusual facies, short stature, developmental delay and heart defects. There is a genetic marker for this disease. Williams syndrome is frequently associated with congenital heart defects. The most common cardiac diagnoses are supravalve aortic stenosis, supravalve pulmonic stenosis, and arterial hypertension. In contrast, the association of mitral valve prolapse with Williams syndrome is less well defined. We present a case of a 15-year-old girl with Williams syndrome who underwent successful mitral valve repair. Review of the echocardiographic database of our institution over a 10-year period identified 26 other patients with Williams syndrome. Overall, 10 of the 27 children with Williams syndrome had mitral valve disease (37%) including 9 patients with mitral valve prolapse and one with mitral insufficiency. In conclusion, patients with Williams syndrome should be examined for mitral valve disease. Mitral valve repair is feasible and may be considered in the growing child with Williams syndrome.

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