What does this research mean for the field?

The penetrance of familial hypertrophic cardiomyopathy varies significantly depending on the specific underlying genetic mutation, which complicates clinical diagnosis, management, and genetic counseling. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

March 1, 1998Journal of Medical GeneticsOpen Access

Counselling issues in familial hypertrophic cardiomyopathy.

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Population

Three families with familial hypertrophic cardiomyopathy with different genetic defects

Design

Case_series

Authors

BYBing YuAcademy of Medical Sciences JFJ A FrenchRoyal Prince Alfred Hospital RJRichmond JeremyThe University of Sydney

Discussion

Member takes

Implication

Variable penetrance by mutation type cautions genetic counseling in hypertrophic cardiomyopathy; leaves open larger validation for risk stratification.

Structured PICO

Population

Three families with familial hypertrophic cardiomyopathy (FHC) with different genetic defects (Gln969X and Asn755Lys in the cardiac myosin binding protein C gene, and Arg453Cys in the cardiac beta myosin heavy chain gene)

Outcome

Penetrance and clinical presentation

Variable penetrance in familial hypertrophic cardiomyopathy depending on the specific genetic mutation complicates clinical diagnosis and genetic counselling.

Cite This Study

Yu et al. (1998) studied this question.

synapsesocial.com/papers/6a1c212cd54006be995f9878 https://doi.org/10.1136/jmg.35.3.183

Topics

Echocardiography Hypertrophic cardiomyopathy

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Implication

Variable penetrance by mutation type cautions genetic counseling in hypertrophic cardiomyopathy; leaves open larger validation for risk stratification.

Counselling issues in familial hypertrophic cardiomyopathy.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

Counselling issues in familial hypertrophic cardiomyopathy.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider