The Epidemiology and Genetics of Hypoplastic Left Heart Syndrome

  • Elizabeth Goldmuntz
Part of the Developments in Cardiovascular Medicine book series (DICM, volume 246)


Hypoplastic left heart syndrome (HLHS) is a common major congenital malformation, but very little is known about its etiology. Some hypothesize and animal models indicate that diminished blood flow through the left side of the fetal heart results in retarded growth and consequent hypoplasia of the left-sided structures (see Chapter 2 for further discussion). However, the primary mechanisms that cause this diminution of flow, whether they are structural or functional alterations, have not been defined and are likely to be heterogeneous. Epidemiologic studies point to a genetic component in the etiology of HLHS, as do reports of families with multiple affected members and its consistent association with specific genetic syndromes. These studies also demonstrate that, in some cases, HLHS is likely to represent a continuum of disease with other left-sided lesions of the heart including coarctation of the aorta and aortic valve stenosis. However, it has been particularly difficult to identify the genetic etiology of HLHS given the rarity of large families with multiple affected members for which a linkage analysis could be performed to identify a chromosomal disease locus. In addition, very few candidate genes from animal models have been identified that could be tested as disease-related in humans. In the following sections, the epidemiology of HLHS and the current understanding of its genetic etiology will be reviewed.


Congenital Heart Disease Turner Syndrome Bicuspid Aortic Valve Hypoplastic Leave Heart Syndrome Aortic Valve Stenosis 
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Copyright information

© Springer Science+Business Media New York 2003

Authors and Affiliations

  • Elizabeth Goldmuntz
    • 1
  1. 1.Division of CardiologyThe Children’s Hospital of PhiladelphiaUSA

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