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Genetic Analysis of Familial Hypertrophic Cardiomyopathy

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: NCT00005251
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : March 16, 2016
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)

Brief Summary:
To map the genetic defect responsible for familial hypertrophic cardiomyopathy.

Condition or disease
Cardiovascular Diseases Heart Diseases Myocardial Diseases Cardiomyopathy, Hypertrophic

Detailed Description:


Familial hypertrophic cardiomyopathy is a disease of heart muscle that is genetically transmitted as an autosomal dominant trait, with a high degree of penetrance. Affected individuals typically have asymmetric thickening of the interventricular septum often involving the adjacent left ventricular free wall. Histologically, myocardial cells are enlarged and muscle bundles are grossly disorganized, producing a whorled pattern. The physiologic consequence of this cardiomyopathy is diastolic dysfunction with impaired ventricular relaxation and elevated diastolic pressures in the heart and pulmonary vasculature. Patients can experience dyspnea, angina, palpitations, and syncope. Complications of the disease include atrial fibrillation, congestive heart failure, thromboembolism, and most importantly, sudden death.


The three kindreds studied included one in Iceland, one in the St. Lawrence region in Canada, and one in the Pittsburgh, Pennsylvania area. Pedigrees were established for the three kindreds. All family members were clinically evaluated by physical exam, electrocardiogram, and comprehensive M-mode and two-dimensional echocardiography. Lymphoblastoid cell lines were derived from all members of the three pedigrees. Restriction fragment length polymorphism analyses were used to identify a DNA probe that was linked to familial hypertrophic cardiomyopathy. Studies were conducted to determine if the familial hypertrophic cardiomyopathy locus was the same in all three kindreds and to identify the gene responsible.

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

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Study Type : Observational
Study Start Date : January 1990
Actual Study Completion Date : March 1995

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria

Layout table for additonal information Identifier: NCT00005251    
Other Study ID Numbers: 1133
R01HL042467 ( U.S. NIH Grant/Contract )
First Posted: May 26, 2000    Key Record Dates
Last Update Posted: March 16, 2016
Last Verified: June 2000
Additional relevant MeSH terms:
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Heart Diseases
Cardiomyopathy, Hypertrophic
Cardiovascular Diseases
Pathological Conditions, Anatomical
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases