Family Study of Congenital Cardiovascular Malformations

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00005258
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : February 29, 2016
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)

Brief Summary:
To determine genetic mechanisms responsible for congenital cardiovascular malformations.

Condition or disease
Cardiovascular Diseases Defect, Congenital Heart Heart Diseases

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.

Study Type : Observational
Study Start Date : June 1990
Actual Study Completion Date : May 1993

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria Identifier: NCT00005258     History of Changes
Other Study ID Numbers: 1141
R01HL044069 ( U.S. NIH Grant/Contract )
First Posted: May 26, 2000    Key Record Dates
Last Update Posted: February 29, 2016
Last Verified: November 2001

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities