What is the clinical evidence from this study?

Study design: Observational. Population: Hypertrophic cardiomyopathy (HCM) (n=1414). Intervention: MYBPC3 Arg502Trp variant. Primary outcome: Prevalence and segregation of MYBPC3 Arg502Trp with HCM (OR 11000).

What does this research mean for the field?

The MYBPC3 Arg502Trp mutation is a highly recurrent pathogenic variant that conveys a 340-fold increased risk for hypertrophic cardiomyopathy by age 45, with clinical prognosis significantly worsening when co-occurring with another sarcomere protein gene mutation. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To assess the prevalence, origin, and clinical significance of the MYBPC3 Arg502Trp mutation in hypertrophic cardiomyopathy.

April 9, 2010Circulation ResearchOpen Access

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

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Key result

The MYBPC3 Arg502Trp variant occurs in 2.4% of HCM patients and conveys a 340-fold increased risk for HCM by 45 years of age, with worse prognosis if another sarcomere mutation is present (P<0.0001).

Why the study?

What is the prevalence and clinical significance of the MYBPC3 Arg502Trp variant in patients with hypertrophic cardiomyopathy?

Key Points

To assess the prevalence, origin, and clinical significance of the MYBPC3 Arg502Trp mutation in hypertrophic cardiomyopathy.
Analyzed 1414 sequential HCM patients of primarily European descent.
Identified 34 MYBPC3 Arg502Trp carriers and performed family segregation studies.
Examined disease haplotypes in 17 families regarding MYBPC3 mutation presence.
MYBPC3 Arg502Trp was present in 2.4% of HCM patients, conveying a 340-fold increased risk for HCM by age 45.
30% of MYBPC3 Arg502Trp carriers experienced major adverse clinical events by age 50, especially with another sarcomere mutation.
Calculated odds ratio of 11,000:1 for segregation of MYBPC3 Arg502Trp with HCM.

Study Design

Type

Observational (n=1,414)

Structured PICO

What is the prevalence and clinical significance of the MYBPC3 Arg502Trp variant in patients with hypertrophic cardiomyopathy?

Population

1414 sequential hypertrophic cardiomyopathy (HCM) patients of primarily European descent, and their family members.

Intervention

Presence of the MYBPC3 Arg502Trp variant

Outcome

Prevalence, origin, and clinical significance (segregation with HCM and major adverse clinical events) of the MYBPC3 Arg502Trp varianthard clinical

Main Result

Effect estimate: OR 11000

Discussion

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Implication

Supports genetic counseling for MYBPC3 Arg502Trp carriers in HCM; leaves open prospective validation in diverse populations.

Cite This Study

Saltzman et al. (2010) conducted an observational in Hypertrophic cardiomyopathy (HCM) (n=1,414). MYBPC3 Arg502Trp variant was evaluated on Prevalence and segregation of MYBPC3 Arg502Trp with HCM (OR 11000). The MYBPC3 Arg502Trp variant occurs in 2.4% of HCM patients and conveys a 340-fold increased risk for HCM by 45 years of age, with worse prognosis if another sarcomere mutation is present (P<0.0001).

synapsesocial.com/papers/6a07b5b67ba19a189e06b2ab https://doi.org/10.1161/circresaha.109.216291

Topics

Hypertrophic cardiomyopathy

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