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Related Experiment Videos

Hypoplastic left heart syndrome is heritable.

Robert B Hinton1, Lisa J Martin, Meredith E Tabangin

  • 1Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3039, USA.

Journal of the American College of Cardiology
|October 16, 2007
PubMed
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Genetic factors largely determine hypoplastic left heart syndrome (HLHS), a severe congenital heart defect. This study found high heritability for HLHS and associated cardiovascular malformations in affected families.

Area of Science:

  • Cardiovascular Genetics
  • Pediatric Cardiology
  • Congenital Heart Defects

Background:

  • Hypoplastic left heart syndrome (HLHS) is a critical congenital cardiovascular malformation (CVM) causing significant infant mortality and morbidity.
  • Observed familial clustering of HLHS and bicuspid aortic valve (BAV) suggests a genetic component, though its significance remains unclear.

Purpose of the Study:

  • To quantify the genetic contribution (heritability) to HLHS in families with an HLHS proband.
  • To investigate the heritability of HLHS and associated CVMs.

Main Methods:

  • A 3-generation family history was collected from 38 HLHS probands.
  • Echocardiograms were performed on 235 family members to assess for CVM.
  • Heritability (h2) was estimated using maximum-likelihood-based variance decomposition.

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Main Results:

  • High heritability for HLHS (99%) and HLHS with associated CVM (74%) was observed (p < 0.00001).
  • 55% of families had multiple affected individuals; 36% of participants had CVM, including 11% with BAV.
  • Sibling recurrence risk for HLHS was 8% and for CVM was 22%.

Conclusions:

  • The high heritability strongly indicates that genetic factors are the primary determinants of HLHS.
  • HLHS appears to be a severe manifestation of valve malformation, evidenced by frequent valve dysplasia in probands and increased BAV prevalence in relatives.