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July 1, 2001HeartOpen Access

Role of DNA testing for diagnosis, management, and genetic screening in long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome

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Key result

DNA testing (genotyping) is discussed regarding its role in the diagnosis, management, and genetic screening of patients with long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome.

Why the study?

What is the role of DNA testing for diagnosis, management, and genetic screening in long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome?

Population

Patients with long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome, as well as populations…

Design

Editorial

Authors

GVG. Michael VincentIntermountain Healthcare

Discussion

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Implication

DNA testing for LQTS, HCM, and Marfan syndrome is of substantial interest for diagnosis and screening, though its utility is currently limited by incomplete genetic knowledge, variable expressivity, and reduced penetrance.

Structured PICO

What is the role of DNA testing for diagnosis, management, and genetic screening in long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome?

P
Population
Patients with long QT syndrome (LQTS), hypertrophic cardiomyopathy (HCM), and Marfan syndrome, as well as populations such as young athletes for genetic screening
E
Exposure
DNA analysis (genotyping) / DNA testing

DNA testing for LQTS, HCM, and Marfan syndrome is of substantial interest for diagnosis and screening, though its utility is currently limited by incomplete genetic knowledge, variable expressivity, and reduced penetrance.

Cite This Study

G. Michael Vincent (2001) conducted an editorial in Long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome. DNA testing (genotyping) was evaluated. DNA testing (genotyping) is discussed regarding its role in the diagnosis, management, and genetic screening of patients with long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome.

synapsesocial.com/papers/6a6db153e36a167817e02678https://doi.org/10.1136/heart.86.1.12

Topics

Hypertrophic cardiomyopathy
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome.1997 · 20 citations
  2. 2Long QT Syndrome Patients With Mutations of the SCN5A and HERG Genes Have Differential Responses to Na + Channel Blockade and to Increases in Heart Rate1995 · 819 citations
  3. 3Molecular Basis of the Long-QT Syndrome Associated with Deafness1997 · 352 citations
  4. 4The Marfan Syndrome2000 · 517 citations
  5. 5Preparticipation Cardiovascular Screening for US Collegiate Student-Athletes2000 · 120 citations