Congenital cardiovascular malformations: Questions on inheritance

Charlotte Ferencz, Joann A. Boughman, Catherine A. Neill, Joel Brenner, Lowell W. Perry

Research output: Contribution to journalArticle

Abstract

The Baltimore-Washington Infant Study, an epidemiologic investigation of congenital heart disease, searches for genetic and environmental risk factors. Among 2,102 infants with heart disease, 17.5% had a noncardiac abnormality of chromosomal or genetic origin, whereas among 2,328 control infants, only 0.7% had a genetic abnormality. Familial cardiovascular malformations encountered can be grouped into five distinct etiologic mechanisms. Single gene effects may be responsible for the specific histologic and biochemical changes in familial atrial septal defect with conduction disturbance and also in idiopathic ventricular hypertrophy. Left heart lesions showed familial concordance by the presumed morphogenetic mechanism of abnormal embryonic blood flow with phenotypes of varying severity. Pulmonary stenosis appeared with familial heritable disorders, as well as a partially concordant lesion with tetralogy of Fallot. Ventricular septal defect with transposition of the great arteries (one sibling pair) and with truncus arteriosus (two sibling pairs) indicate forme fruste expression of conotruncal defects. Endocardial cushion defect occurred with and without Down's syndrome in members of three families, suggesting inheritance of a defect affecting cellular migration. Heritable blood coagulopathies occurred in case families and not in control families. The association of hemophilia and transposition, observed also by others, is extremely unlikely by chance and suggests genetic errors of endothelial cell function. The description of specific families from a populationbased study emphasizes biologic questions on the nature of the inheritance of cardiovascular malformations.

Original languageEnglish (US)
Pages (from-to)756-763
Number of pages8
JournalJournal of the American College of Cardiology
Volume14
Issue number3
DOIs
StatePublished - 1989
Externally publishedYes

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Siblings
Heart Diseases
Endocardial Cushion Defects
Truncus Arteriosus
Baltimore
Transposition of Great Vessels
Pulmonary Valve Stenosis
Tetralogy of Fallot
Atrial Heart Septal Defects
Ventricular Heart Septal Defects
Hemophilia A
Down Syndrome
Chromosome Aberrations
Hypertrophy
Epidemiologic Studies
Endothelial Cells
Phenotype
Genes

ASJC Scopus subject areas

  • Nursing(all)

Cite this

Congenital cardiovascular malformations : Questions on inheritance. / Ferencz, Charlotte; Boughman, Joann A.; Neill, Catherine A.; Brenner, Joel; Perry, Lowell W.

In: Journal of the American College of Cardiology, Vol. 14, No. 3, 1989, p. 756-763.

Research output: Contribution to journalArticle

Ferencz, Charlotte ; Boughman, Joann A. ; Neill, Catherine A. ; Brenner, Joel ; Perry, Lowell W. / Congenital cardiovascular malformations : Questions on inheritance. In: Journal of the American College of Cardiology. 1989 ; Vol. 14, No. 3. pp. 756-763.
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