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July 1, 1995HeartOpen Access

Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations.

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Population

42 individuals from two South African families of mixed racial descent with familial hypertrophic…

Design

Cohort

Authors

BPBerthold PosenStellenbosch UniversityJMJohanna C. MoolmanSouth African Medical Research CouncilVCValerie A. CorfieldStellenbosch University

Discussion

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Implication

Supports genotype-informed counseling in familial HCM; leaves open validation in larger diverse cohorts.

Key Points

  • This study aims to evaluate the clinical and prognostic features of familial hypertrophic cardiomyopathy linked to specific beta MHC mutations.
  • Identified beta MHC gene mutations via single strand conformation polymorphism analysis and sequencing.
  • Conducted genotypic analysis on all family members using polymerase chain reaction and restriction enzyme techniques.
  • Performed clinical, electrocardiographic, and echocardiographic studies on affected individuals.
  • In pedigree 106, 32 individuals had the Arg403Trp mutation with a 25% penetrance in adults.
  • In pedigree 108, 10 individuals had the Arg249Gln mutation with a 33% penetrance in adults.
  • Electrocardiographic and echocardiographic abnormalities were found in 60% of individuals in pedigree 106 and 80% in pedigree 108, with both families showing a benign prognosis.

Structured PICO

P
Population
42 individuals from two South African families of mixed racial descent with familial hypertrophic cardiomyopathy and specific beta myosin heavy chain (beta MHC) gene mutations (32 with Arg403Trp in pedigree 106, 10 with Arg249Gln in pedigree 108).
O
Outcome
Prognosis (sudden cardiac death) and penetrance ratehard clinical

This study confirms the benign prognosis of the Arg403Trp mutation in familial hypertrophic cardiomyopathy and highlights the importance of specific beta MHC gene mutations in determining prognosis for genetic counseling.

Limitations

  • Small number of affected individuals in the second family
  • Relatively young age of affected individuals in the second family

Cite This Study

Posen et al. (1995) studied this question.

synapsesocial.com/papers/6a212cdf3789f3ac65342d1fhttps://doi.org/10.1136/hrt.74.1.40

Topics

Hypertrophic cardiomyopathy
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy1993 · 25 citations
  2. 2Heart disease: A textbook of cardiovascular medicine1992 · 290 citations
  3. 3Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse US population.1991 · 83 citations
  4. 4Sudden death in hypertrophic cardiomyopathy. Assessment of patients at high risk.1989 · 207 citations