Genetic Analysis of Familial Hypertrophic Cardiomyopathy

Brief Title

Genetic Analysis of Familial Hypertrophic Cardiomyopathy

Brief Summary

      To map the genetic defect responsible for familial hypertrophic cardiomyopathy.

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.

Study Type



Cardiovascular Diseases


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Start Date

January 1990

Completion Date

March 1995

Eligibility Criteria

        No eligibility criteria




N/A - 100 Years

Accepts Healthy Volunteers



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Administrative Informations



Organization ID


Secondary IDs


Study Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Study Sponsor

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Verification Date

June 2000