March 6, 2001Circulation

Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome

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Population

2 families and 3 individuals with isolated left ventricular noncompaction or LVNC with congenital heart…

Design

Case_series

Authors

FIFukiko IchidaSanno Medical Center STShinichi TsubataMatsuyama Red Cross Hospital KBKarla R. BowlesMyriad Genetics

Discussion

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Implication

Hypothesis-generating for LVNC genetic heterogeneity; does not yet support changes to clinical practice or testing panels.

Structured PICO

Population

2 families and 3 individuals with isolated left ventricular noncompaction (LVNC) or LVNC with congenital heart disease (CHD), and 4 families with Barth syndrome (BTHS) associated with LVNC or dilated cardiomyopathy (DCM)

Intervention

Genetic screening by single-strand DNA conformation polymorphism analysis and DNA sequencing

Outcome

Identification of mutations in G4.5 or other novel genes

Demonstrates genetic heterogeneity in LVNC, identifying alpha-dystrobrevin as a novel gene associated with LVNC and CHD, and confirming G4.5 mutations in a wide spectrum of cardiomyopathies.

Cite This Study

Ichida et al. (2001) studied this question.

synapsesocial.com/papers/69f41d3cf3e494ed2b7d046b https://doi.org/10.1161/01.cir.103.9.1256

Topics

Cardiomyopathy

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Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

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