The term “congenital heart disease” designates a structural abnormality of the heart present at birth. These cardiovascular malformations include a very wide range of abnormalities including:

  • mild deviations of no clinical consequence
  • deviations that seriously interfere with the course of circulation but may be surgically altered or repaired
  • deviations that may be incompatible with post-natal life

Congenital heart disease is a major cause of infant mortality in the United States and other developed countries.

Malformations of the human heart have long been of interest to physicians and scientists, first as pathologic curiosities worthy of descriptive reports, then as clinical disorders which could be diagnosed in life, and, beginning in the mid-twentieth century, as anatomic defects which could be surgically altered and even repaired.

Several specialties have developed and others are evolving as a result of the progress made in the last several decades.

  • pediatric cardiology
  • pediatric cardiac surgery
  • fetal cardiology
  • congenital heart disease in adults

Growing up with congenital heart disease has brought with it new medical and societal horizons in which counseling and risk assessment are of major importance and require intensified research on causation and on prevention.

Adults with congenital heart disease now constitute an important and challenging segment of the patient population of cardiology centers and an ever-increasing topic of investigations and clinical concerns for several reasons:

  • Physicians trained in adult cardiology find themselves unable to understand some of the clinical manifestations presented by some adult patients
  • Medical supervision may have been long interrupted with sequelae of complications in some of the patients
  • Late cardiac and non-cardiac manifestations have not yet been determined in adequate numbers of various diagnostic groups of cases to guide cardiologists and other professionals in questions of management
  • There has been no accepted sequence of cardiology training to bridge the knowledge gap between pediatric and adult cardiology regarding the long-term course of the operated and unoperated groups of patients with certain cardiac malformations

For more information consult:

  • The Pathology of Congenital Heart Disease by S. Bharati and M. Lev. Armonk, NY : Futura Pub. Co., c1996.
  • The Clinical Recognition of Congenital Heart Disease, 5th Ed. by Joseph K Perloff, Philadelphia: Saunders, an Imprint of Elsevier Science, 2003.
  • The Natural and Modified History of Congenital Heart Disease edited by Robert M. Freedom … [et al.] Elmsford, N.Y. : Blackwell Pub./Futura, c2004.

Research Organizations

  • American Heart Association*The AHA is a national voluntary health agency whose mission is to reduce disability and death from cardiovascular diseases and stroke.
  • National Birth Defects Prevention Network**The National Birth Defects Prevention Network (NBDPN) is a group of individuals involved in birth defects surveillance, research, and prevention.
  • National Center on Birth Defects and Developmental Disabilities**The Center based at the Center for Disease Control and Prevention (CDC) promotes the health of babies, children, and adults, and enhance the potential for full, productive living. Our work includes identifying the causes of birth defects and developmental disabilities, helping children to develop and reach their full potential, and promoting health and well-being among people of all ages with disabilities.
  • National Heart, Lung and Blood Institute*NHLBI provides leadership for a national program in diseases of the heart, blood vessels, lung, and blood; blood resources; and sleep disorders. Since October 1997, the NHLBI has also had administrative responsibility for the NIH Woman’s Health Initiative. The Institute plans, conducts, fosters, and supports an integrated and coordinated program of basic research, clinical investigations and trials, observational studies, and demonstration and education projects.
  • National Institute of Child Health and Human Development**NICHD research on fertility, pregnancy, growth, development, and medical rehabilitation strives to ensure that every child is born healthy and wanted and grows up free from disease and disability.
  • March of Dimes**The mission of the March of Dimes is to improve the health of babies by preventing birth defects and infant mortality

* These organizations encompass congenital heart disease within their defined research targets, but are principally concerned with the prevention, problems and treatment of acquired adult heart disease.

** These organizations include congenital heart disease, but encompass all birth defects within their target area.