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June 6, 2006Circulation

Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community

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Why the study?

What is the prevalence of single-gene mutations causing familial cardiomyopathies in community-dwelling individuals with unexplained increased left ventricular wall thickness?

Population

1862 unrelated participants from the community-based Framingham Heart Study who had echocardiograms and…

Design

Cohort

Key result

Among community participants with unexplained increased left ventricular wall thickness (>13 mm), 18% had mutations in sarcomere protein or lipid storage genes.

Authors

HMHiroyuki MoritaNihon UniversityMLMartin G. LarsonSemmelweis UniversitySBScott BarrBoston University

Discussion

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Overview

Does not support routine genetic screening for community LV wall thickening; leaves open penetrance and outcomes in mutation carriers.

Key Points

  • This research aims to explore the role of single-gene mutations in increasing left ventricular wall thickness (LVWT) within the community.
  • Analyzed 1862 participants from the Framingham Heart Study without severe cardiovascular conditions.
  • Sequenced 8 sarcomere protein genes, 3 storage cardiomyopathy genes, and 27 mitochondrial genes.
  • Identified individuals with maximum LVWT greater than 13 mm and assessed genetic mutations.
  • Approximately 3% of participants had increased LVWT, with 18% showing mutations in relevant genes.
  • Detected 8 mutations in 9 individuals; primarily in sarcomere protein genes such as MYH7 and MYBPC3.
  • Participants with gene mutations were clinically indistinguishable from those without.

Study Design

Type

Cohort (n=1,862)

Structured PICO

What is the prevalence of single-gene mutations causing familial cardiomyopathies in community-dwelling individuals with unexplained increased left ventricular wall thickness?

P
Population
1862 unrelated participants from the community-based Framingham Heart Study (52% women; age, 59+/-9 years) who had echocardiograms and provided DNA samples, excluding severe hypertension, aortic prosthesis, or significant aortic stenosis. 50 participants had unexplained increased LVWT (>13 mm).
I
Intervention
Genetic sequencing of 8 sarcomere protein genes, 3 storage cardiomyopathy-causing genes, and 27 mitochondrial genes.
O
Outcome
Prevalence of single-gene mutations (sarcomere protein, storage cardiomyopathy, mitochondrial genes) in individuals with unexplained increased left ventricular wall thickness.

In a community-based cohort, nearly 1 in 5 individuals with unexplained increased left ventricular wall thickness harbored a single-gene mutation associated with cardiomyopathy.

Cite This Study

Morita et al. (2006) conducted a cohort in Increased left ventricular wall thickness (n=1,862). Genetic sequencing was evaluated on Prevalence of single-gene mutations in individuals with unexplained increased left ventricular wall thickness (>13 mm). Among community participants with unexplained increased left ventricular wall thickness (>13 mm), 18% had mutations in sarcomere protein or lipid storage genes.

synapsesocial.com/papers/6a141bd93f92ec2dd759aca1https://doi.org/10.1161/circulationaha.105.593558
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