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Related Experiment Videos

Bicuspid aortic valve is heritable.

Linda Cripe1, Gregor Andelfinger, Lisa J Martin

  • 1Department of Pediatrics, Division of Cardiology, Cincinnati Children's Hospital, Ohio 45229, USA.

Journal of the American College of Cardiology
|July 6, 2004
PubMed
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Genetic factors strongly influence bicuspid aortic valve (BAV), a common heart defect. This study found high heritability for BAV, suggesting a significant genetic basis for this cardiovascular malformation.

Area of Science:

  • Cardiovascular Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Bicuspid aortic valve (BAV) is the most common congenital cardiovascular malformation, affecting 1% of the population.
  • BAV often precedes aortic valve stenosis or insufficiency and is linked to other cardiovascular malformations (CVMs) like aortic root dilation.
  • The underlying genetic and developmental mechanisms of BAV and associated CVMs are not fully understood.

Purpose of the Study:

  • To statistically assess if the familial segregation pattern of BAV is consistent with genetic inheritance.
  • To quantify the genetic contribution (heritability) to BAV and related cardiovascular anomalies.

Main Methods:

  • A three-generation family history and echocardiograms were collected from 50 probands with BAV and their relatives.

Related Experiment Videos

  • Heritability (h2) for BAV and BAV/CVM was estimated using maximum-likelihood variance decomposition in the SOLAR software.
  • The analysis was extended to dichotomous traits to accommodate the presence or absence of BAV and/or other CVMs.

    • Main Results:

    • The study included 309 participants, with a BAV prevalence of 24% (74 individuals).
    • BAV and/or other CVMs were present in 31% (97 individuals), including various septal defects and aortic abnormalities.
    • Heritability estimates for BAV alone were 89%, and for BAV and/or other CVMs were 75%.

    Conclusions:

    • The high heritability of BAV strongly indicates a predominantly genetic etiology in the studied population.
    • The significant heritability of combined BAV and other CVMs suggests a shared genetic basis, potentially involving primary defects in valvulogenesis or broader cardiogenesis issues.