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Genetic Analysis of Familial Hypertrophic Cardiomyopathy

This study has been completed.
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI) Identifier:
First received: May 25, 2000
Last updated: March 15, 2016
Last verified: June 2000
To map the genetic defect responsible for familial hypertrophic cardiomyopathy.

Cardiovascular Diseases Heart Diseases Myocardial Diseases Cardiomyopathy, Hypertrophic

Study Type: Observational

Resource links provided by NLM:

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

Study Start Date: January 1990
Study Completion Date: March 1995
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.


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

Publications: Identifier: NCT00005251     History of Changes
Other Study ID Numbers: 1133
R01HL042467 ( U.S. NIH Grant/Contract )
Study First Received: May 25, 2000
Last Updated: March 15, 2016

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Cardiomyopathy, Hypertrophic
Cardiomyopathy, Hypertrophic, Familial
Pathological Conditions, Anatomical
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases
Genetic Diseases, Inborn processed this record on September 21, 2017