Variation in Expression of Congenital Cardiovascular Malformations within and Among Families

  • J. A. Boughman
  • J. A. Astemborski
  • K. A. Berg
  • E. B. Clark
  • C. Ferencz
Part of the Basic Life Sciences book series (BLSC, volume 43)


Congenital cardiovascular malformations (CCVM) constitute a major portion of clinically significant birth defects, with the clinical literature suggesting population frequencies estimated to be 4 to 8 per 1,000 (reviewed by Ferencz et al., 1985). Approximately 30% of children with CCVM have other major congenital malformations as well (Hoffman and Christianson, 1978). The etiologies of CCVM are heterogeneous, and include well defined Mendelian syndromes (McKusick, 1986), chromosomal abnormalities (DeGrouchy, 1984), and specific teratogenic causes (Smith, 1982). It is supposed that approximately 5% of CCVM are single gene disorders (Neill, 1972), and about 5–6% have been suggested to be associated with chromosomal anomalies, especially autosomal trisomies (Nora and Nora, 1983). Specific teratogenic agents are known to cause CCVM, but these exposures account for only a small proportion of cases.


Congenital Heart Disease Down Syndrome Ventricular Septal Defect Bicuspid Aortic Valve Hypoplastic Left Heart Syndrome 
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Copyright information

© Plenum Press, New York 1988

Authors and Affiliations

  • J. A. Boughman
    • 1
  • J. A. Astemborski
    • 1
  • K. A. Berg
    • 1
  • E. B. Clark
    • 2
  • C. Ferencz
    • 3
  1. 1.Division of Human GeneticsUniversity of Maryland at BaltimoreUSA
  2. 2.Division of Pediatric CardiologyThe Johns Hopkins University School of MedicineUSA
  3. 3.Department of Epidemiology and Preventive MedicineUniversity of Maryland at BaltimoreUSA

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