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Autosomal dominant inheritance of left ventricular outflow tract obstruction

Marja W Wessels1, Rolf M F Berger, Ingrid M E Frohn-Mulder

  • 1Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands. m.w.wessels@erasmusmc.nl

American Journal of Medical Genetics. Part A
|February 16, 2005
PubMed

Insights

This study identifies presumed autosomal dominant inheritance in four families with left ventricular outflow tract obstruction (LVOTO) congenital heart defects. The findings suggest a single gene defect may cause the spectrum of LVOTO anomalies.

Area of Science:

  • Medical Genetics
  • Cardiology
  • Developmental Biology

Background:

  • Nonsyndromic congenital heart malformations (CHMs) are often multifactorial, but monogenic causes are increasingly recognized.
  • Left ventricular outflow tract obstruction (LVOTO) is a spectrum of CHMs with diverse clinical presentations.

Purpose of the Study:

  • To investigate the genetic basis of LVOTO in families with presumed autosomal dominant inheritance.
  • To explore the relationship between different anomalies within the LVOTO spectrum.

Main Methods:

  • Clinical evaluation of four families with multiple affected members.
  • Pedigree analysis to determine inheritance patterns.
  • Detailed description of the clinical spectrum of LVOTO anomalies observed.

Main Results:

  • Four families exhibited presumed autosomal dominant inheritance of LVOTO.
  • The spectrum of anomalies included hypoplastic left heart (HLHS), aortic valve stenosis (AS), bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA).
  • Clinical severity varied widely within families, from severe HLHS to mild AS.

Conclusions:

  • The findings support the hypothesis that a single gene defect can cause the diverse range of LVOTO anomalies.
  • Autosomal dominant inheritance is a potential genetic mechanism for familial LVOTO.
  • Further research is needed to identify the specific gene(s) involved.

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