The dilemma of genotype positive-phenotype negative hypertrophic cardiomyopathy

Jillian Sylvester, Peter Seidenberg, Matthew Silvis

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease and the leading cause of sudden death in athletes. An autosomal dominant disorder affecting approximately 1 in 500 individuals, HCM has been linked to multiple mutations and exhibits variable phenotypic expression. The utility of cardiovascular screening in diagnosing risk factors for sudden cardiac death continues to be debated intensely. Genetic testing has been employed increasingly in diagnosing HCM, resulting in a subset of patients with genotype positive-phenotype negative disease; these patients carry the mutation for HCM but lack pathologic evidence of disease. These individuals pose a dilemma in the clinical management of HCM: should treatment guidelines for phenotypically normal HCM patients be the same as that of symptomatic patients? Governing bodies continue to disagree, providing conflicting guidelines for sports participation. This review examines the current fund of knowledge regarding HCM and the debate regarding screening.

Original languageEnglish (US)
Pages (from-to)94-99
Number of pages6
JournalCurrent sports medicine reports
Volume13
Issue number2
DOIs
StatePublished - Jan 1 2014

Fingerprint

Hypertrophic Cardiomyopathy
Genotype
Phenotype
Guidelines
Mutation
Sudden Cardiac Death
Genetic Testing
Financial Management
Sudden Death
Athletes
Sports
Cause of Death
Cardiovascular Diseases

All Science Journal Classification (ASJC) codes

  • Orthopedics and Sports Medicine
  • Public Health, Environmental and Occupational Health

Cite this

@article{5dd8501ed3c84811ae4ae950cf67f6d9,
title = "The dilemma of genotype positive-phenotype negative hypertrophic cardiomyopathy",
abstract = "Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease and the leading cause of sudden death in athletes. An autosomal dominant disorder affecting approximately 1 in 500 individuals, HCM has been linked to multiple mutations and exhibits variable phenotypic expression. The utility of cardiovascular screening in diagnosing risk factors for sudden cardiac death continues to be debated intensely. Genetic testing has been employed increasingly in diagnosing HCM, resulting in a subset of patients with genotype positive-phenotype negative disease; these patients carry the mutation for HCM but lack pathologic evidence of disease. These individuals pose a dilemma in the clinical management of HCM: should treatment guidelines for phenotypically normal HCM patients be the same as that of symptomatic patients? Governing bodies continue to disagree, providing conflicting guidelines for sports participation. This review examines the current fund of knowledge regarding HCM and the debate regarding screening.",
author = "Jillian Sylvester and Peter Seidenberg and Matthew Silvis",
year = "2014",
month = "1",
day = "1",
doi = "10.1249/JSR.0000000000000037",
language = "English (US)",
volume = "13",
pages = "94--99",
journal = "Current Sports Medicine Reports",
issn = "1537-890X",
publisher = "Lippincott Williams and Wilkins",
number = "2",

}

The dilemma of genotype positive-phenotype negative hypertrophic cardiomyopathy. / Sylvester, Jillian; Seidenberg, Peter; Silvis, Matthew.

In: Current sports medicine reports, Vol. 13, No. 2, 01.01.2014, p. 94-99.

Research output: Contribution to journalArticle

TY - JOUR

T1 - The dilemma of genotype positive-phenotype negative hypertrophic cardiomyopathy

AU - Sylvester, Jillian

AU - Seidenberg, Peter

AU - Silvis, Matthew

PY - 2014/1/1

Y1 - 2014/1/1

N2 - Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease and the leading cause of sudden death in athletes. An autosomal dominant disorder affecting approximately 1 in 500 individuals, HCM has been linked to multiple mutations and exhibits variable phenotypic expression. The utility of cardiovascular screening in diagnosing risk factors for sudden cardiac death continues to be debated intensely. Genetic testing has been employed increasingly in diagnosing HCM, resulting in a subset of patients with genotype positive-phenotype negative disease; these patients carry the mutation for HCM but lack pathologic evidence of disease. These individuals pose a dilemma in the clinical management of HCM: should treatment guidelines for phenotypically normal HCM patients be the same as that of symptomatic patients? Governing bodies continue to disagree, providing conflicting guidelines for sports participation. This review examines the current fund of knowledge regarding HCM and the debate regarding screening.

AB - Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease and the leading cause of sudden death in athletes. An autosomal dominant disorder affecting approximately 1 in 500 individuals, HCM has been linked to multiple mutations and exhibits variable phenotypic expression. The utility of cardiovascular screening in diagnosing risk factors for sudden cardiac death continues to be debated intensely. Genetic testing has been employed increasingly in diagnosing HCM, resulting in a subset of patients with genotype positive-phenotype negative disease; these patients carry the mutation for HCM but lack pathologic evidence of disease. These individuals pose a dilemma in the clinical management of HCM: should treatment guidelines for phenotypically normal HCM patients be the same as that of symptomatic patients? Governing bodies continue to disagree, providing conflicting guidelines for sports participation. This review examines the current fund of knowledge regarding HCM and the debate regarding screening.

UR - http://www.scopus.com/inward/record.url?scp=84898606898&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84898606898&partnerID=8YFLogxK

U2 - 10.1249/JSR.0000000000000037

DO - 10.1249/JSR.0000000000000037

M3 - Article

C2 - 24614422

AN - SCOPUS:84898606898

VL - 13

SP - 94

EP - 99

JO - Current Sports Medicine Reports

JF - Current Sports Medicine Reports

SN - 1537-890X

IS - 2

ER -