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Family Study of Congenital Cardiovascular Malformations

This study has been completed.
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI) Identifier:
First received: May 25, 2000
Last updated: June 23, 2005
Last verified: November 2001

To determine genetic mechanisms responsible for congenital cardiovascular malformations.

Cardiovascular Diseases
Defect, Congenital Heart
Heart Diseases

Study Type: Observational
Study Design: Observational Model: Natural History

Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Study Start Date: June 1990
Estimated Study Completion Date: May 1993
Detailed Description:


Congenital cardiovascular malformations are a major cause of infant mortality in the United States. In 1985, six defects -- hypoplastic left heart, tetralogy of Fallot, truncus arteriosus, transposition of the great arteries, endocardial cushion defect, and ventricular septal defect -- were among the fifteen most frequent causes of premature death due to congenital malformations, accounting for 109,063 years of life lost. This loss of productive life continues in spite of major advances in medical and surgical treatment of congenital cardiovascular malformations. Even as successful treatment modalities are developed, the survival to reproductive years without improved understanding of genetic risks produces additional unanswered questions.


Clinical assessment of cases and controls included medical history, pedigree construction, complete evaluation by a pediatric cardiologist, and two-dimensional and Doppler echocardiography. First degree relatives of cases and controls underwent clinical-echocardiographic evaluation also. The distribution of cardiac defects for all pedigrees within and among the proband group was delineated. The frequencies of heart defects were compared within and among pedigrees of cases and controls. Regressive logistic models of genetic determinants for the malformations were tested. The three participating clinical centers included University of Maryland at Baltimore, the Johns Hopkins Hospital, and the University of Rochester in Rochester, New York.


Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No

No eligibility criteria

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

No Contacts or Locations Provided
  More Information

No publications provided Identifier: NCT00005258     History of Changes
Other Study ID Numbers: 1141
Study First Received: May 25, 2000
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Additional relevant MeSH terms:
Cardiovascular Diseases
Congenital Abnormalities
Heart Defects, Congenital
Heart Diseases
Cardiovascular Abnormalities processed this record on November 24, 2014