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The dilemma of genotype positive-phenotype negative hypertrophic cardiomyopathy

Jillian Sylvester1, Peter Seidenberg, Matthew Silvis

  • 11Penn State College of Medicine, Hershey, PA; 2Department of Family and Community Medicine, Penn State Milton S. Hershey Medical Center, Hershey, PA; and 3Department of Orthopedics and Rehabilitation, Penn State Milton S. Hershey Medical Center, Hershey, PA.

Current Sports Medicine Reports
|March 12, 2014
PubMed

Insights

Hypertrophic cardiomyopathy (HCM), a common inherited heart condition, presents diagnostic challenges, especially in athletes. This review explores screening debates and genetic testing dilemmas in managing HCM.

Area of Science:

  • Cardiology
  • Genetics
  • Sports Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiovascular disease and a primary cause of sudden cardiac death in athletes.
  • Affecting roughly 1 in 500 individuals, HCM is an autosomal dominant disorder with diverse genetic links and variable clinical presentations.
  • The role of cardiovascular screening in identifying sudden cardiac death risk factors remains a contentious topic.

Purpose of the Study:

  • To review current knowledge on hypertrophic cardiomyopathy (HCM).
  • To examine the ongoing debate surrounding screening protocols for HCM.
  • To address the clinical management dilemma posed by genotype-positive, phenotype-negative HCM patients.

Main Methods:

  • Literature review of current fund of knowledge regarding HCM.
  • Analysis of the debate surrounding cardiovascular screening utility.
  • Examination of genetic testing implications in HCM diagnosis.

Main Results:

  • Genetic testing identifies genotype-positive, phenotype-negative HCM cases, complicating clinical management.
  • Conflicting guidelines exist regarding sports participation for individuals with HCM.
  • The debate on the utility of cardiovascular screening for HCM risk factors persists.

Conclusions:

  • HCM management requires careful consideration, particularly for genotype-positive, phenotype-negative individuals.
  • Conflicting guidelines necessitate further clarification for sports participation in HCM patients.
  • The debate on screening utility highlights the need for updated diagnostic and management strategies for HCM.

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