Article Text

PDF

Genetics and congenital heart disease
  1. Richard Emanuel
  1. National Heart Hospital, the Institute of Cardiology, and the Cardiac Department, Middlesex Hospital, London W.1

    Abstract

    In isolated congenital heart disease genetic factors have been shown from family studies, individual pedigree analyses, the frequency of consanguinity, examination of data from twins, and possibly from cytogenetics. In defects of the atrial septum, where data are most complete, genetic factors appear to be important, particularly in secundum atrial septal defect.

    In the syndromes with abnormal chromosomes in which congenital heart disease is common, the cardiovascular abnormality is probably directly associated with the abnormal genetic material present.

    In hereditary disorders with normal chromosomes in which congenital heart disease features, the pattern of inheritance suggests transmission by a single gene or group of genes. The cardiovascular abnormality is genetically determined, though it may not become apparent until many years after birth.

    Statistics from Altmetric.com

    Footnotes

    • 1 The St. Cyres lecture delivered at the Royal College of Physicians, London, 5 December 1968.

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.