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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: February 26, 2016
Last verified: November 2001
To determine genetic mechanisms responsible for congenital cardiovascular malformations.

Cardiovascular Diseases Defect, Congenital Heart Heart Diseases

Study Type: Observational

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

Study Start Date: June 1990
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.

The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) record.


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria
  Contacts and Locations
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No Contacts or Locations Provided
  More Information Identifier: NCT00005258     History of Changes
Other Study ID Numbers: 1141
R01HL044069 ( U.S. NIH Grant/Contract )
Study First Received: May 25, 2000
Last Updated: February 26, 2016

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities processed this record on August 18, 2017