January 1, 1998Human Mutation

Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy

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Population

18 probands from unrelated families with familial hypertrophic cardiomyopathy

Design

Case_series

Authors

FTFrédérique TessonUniversité Claude Bernard Lyon 1 PRPascale RichardHeart Failure & Transplant PCPhilippe CharronUniversité Claude Bernard Lyon 1

Discussion

Member takes

Implication

MYH7 mutations may confer distinct prognoses independent of LV wall thickness in familial HCM; hypothesis-generating and should not yet change practice.

Structured PICO

Population

18 probands from unrelated families with familial hypertrophic cardiomyopathy

Intervention

Genotype screening for beta-myosin heavy chain gene mutations (including Glu930 codon deletion, Ile263Thr, Arg723Cys, and Arg719Trp)

Outcome

Genotype-phenotype relationship (prognosis and maximal wall thickness)

Specific beta-myosin heavy chain gene mutations in familial hypertrophic cardiomyopathy are associated with distinct prognostic outcomes independent of the degree of left ventricular hypertrophy.

Limitations

Additional family studies are needed to confirm these findings

Cite This Study

Tesson et al. (1998) studied this question.

synapsesocial.com/papers/6a9230b73da4caa5ce963209 https://doi.org/10.1002/(sici)1098-1004(1998)12:6<385::aid-humu4>3.0.co;2-e

Topics

Hypertrophic cardiomyopathy

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Implication

MYH7 mutations may confer distinct prognoses independent of LV wall thickness in familial HCM; hypothesis-generating and should not yet change practice.

Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

Topics

Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

Also Consider

Topics

Also Consider