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J Am Coll Cardiol, 2002; 39:1890-1900
© 2002 by the American College of Cardiology Foundation
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REVIEW ARTICLE

The incidence of congenital heart disease

Julien I. E. Hoffman, MD, FACC*,* and Samuel Kaplan, MD, FACC{dagger}

* Department of Pediatrics and the Cardiovascular Research Institute, University of California, San Francisco, California, USA
{dagger} Ahmanson/UCLA Adult Congenital Heart Disease Center, Departments of Medicine, Pediatrics and Surgery, UCLA School of Medicine, Los Angeles, California, USASupported in part by Program Project Grant HL 25847 from the National Heart, Lung and Blood Institute.

Manuscript received September 26, 2001; revised manuscript received March 4, 2002, accepted March 27, 2002.

* Reprint requests and correspondence: Dr. Julien I. E. Hoffman, Box 0544, Room M1331, University of California, 505 Parnassus Avenue, San Francisco, California 94143.
jhoffman{at}pedcard.ucsf.edu

This study was designed to determine the reasons for the variability of the incidence of congenital heart disease (CHD), estimate its true value and provide data about the incidence of specific major forms of CHD. The incidence of CHD in different studies varies from about 4/1,000 to 50/1,000 live births. The relative frequency of different major forms of CHD also differs greatly from study to study. In addition, another 20/1,000 live births have bicuspid aortic valves, isolated anomalous lobar pulmonary veins or a silent patent ductus arteriosus. The incidences reported in 62 studies published after 1955 were examined. Attention was paid to the ways in which the studies were conducted, with special reference to the increased use of echocardiography in the neonatal nursery. The total incidence of CHD was related to the relative frequency of ventricular septal defects (VSDs), the most common type of CHD. The incidences of individual major forms of CHD were determined from 44 studies. The incidence of CHD depends primarily on the number of small VSDs included in the series, and this number in turn depends upon how early the diagnosis is made. If major forms of CHD are stratified into trivial, moderate and severe categories, the variation in incidence depends mainly on the number of trivial lesions included. The incidence of moderate and severe forms of CHD is about 6/1,000 live births (19/1,000 live births if the potentially serious bicuspid aortic valve is included), and of all forms increases to 75/1,000 live births if tiny muscular VSDs present at birth and other trivial lesions are included. Given the causes of variation, there is no evidence for differences in incidence in different countries or times.

Abbreviations and Acronyms
  AS
  aortic stenosis
  ASD
  atrial septal defect
  AVSD
  atrioventricular septal defect
  BAV
  bicuspid aortic valve
  CHD
  congenital heart disease
  Coarc
  coarctation of the aorta
  DORV
  double outlet right ventricle
  NERICP
  New England Regional Infant Cardiac Program
  PDA
  patent ductus arteriosus
  PS
  pulmonic stenosis
  SV
  single ventricle
  VSD
  ventricular septal defect




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