September 1, 2024JACC Heart FailureOpen Access

Association of Multiple Nonhypertrophic Cardiomyopathy–Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy

Q: What is the clinical evidence from this study?

Study design: Cohort. Population: Hypertrophic Cardiomyopathy (n=394). Intervention: Coexistence of other CVD-related variants vs. Absence of other CVD-related variants. Primary outcome: Progression to end-stage HCM (aHR 2.80, 95% CI 1.16-6.78, p=0.022).

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Key result

Coexisting CVD-related variants linked to ~2.8-fold higher risk of end-stage progression in HCM.

aHR 2.80
95% CI 1.16-6.78
P=0.022
n=394

Why the study?

Does the coexistence of other CVD-related variants predict progression to end-stage HCM and heart failure events in patients with sarcomeric HCM?

Population

394 HCM patients from a Japanese multicenter cohort

Comparison

Multiple sarcomeric variants or coexistence of other CVD-related variants vs single sarcomeric variants

Design

Genetic analysis cohort study

Authors

THTakashi HirumaHeart Failure / Cardiomyopathy SIShunsuke InoueAnna Needs Neuroblastoma Answers ZDZhehao DaiTwitter (United States)

Discussion

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Implication

The presence of other cardiovascular disease-related genetic variants in patients with sarcomeric hypertrophic cardiomyopathy is associated with a significantly higher risk of progression to end-stage HCM and heart failure events.

Key Points

Progression to end-stage hypertrophic cardiomyopathy increases markedly when patients carry secondary cardiovascular variants alongside primary sarcomeric variants.
Hazard ratios reached 2.80 for end-stage progression and 2.75 for heart failure events among patients harboring these coexisting nonhypertrophic genetic alterations.
Multicenter cohort genetic analysis of 83 genes supports expanded variant screening to improve risk stratification before systolic dysfunction occurs.

Study Design

Type

Cohort (n=394)

Multicenter

Yes

Structured PICO

Does the coexistence of other CVD-related variants predict progression to end-stage HCM and heart failure events in patients with sarcomeric HCM?

Population

394 patients with hypertrophic cardiomyopathy from a Japanese multicenter cohort, of whom 139 carried pathogenic or likely pathogenic sarcomeric variants.

Exposure

Presence of multiple sarcomeric variants or coexistence of other cardiovascular disease (CVD)-related variants

Comparator

Single sarcomeric variants

Outcome

Progression to end-stage HCMhard clinical

Main Result

Hazard Ratio: 2.8 (95% CI 1.16–6.78)

p-value: p=0.022

Cite This Study

Hiruma et al. (2024) conducted a cohort in Hypertrophic Cardiomyopathy (n=394). Coexistence of other CVD-related variants vs. Absence of other CVD-related variants was evaluated on Progression to end-stage HCM (aHR 2.80, 95% CI 1.16-6.78, p=0.022). In patients with hypertrophic cardiomyopathy, the coexistence of other CVD-related variants was independently associated with progression to end-stage HCM (HR 2.80; 95% CI 1.16-6.78; P=0.022).

synapsesocial.com/papers/68e59c4cb6db64358753690c https://doi.org/10.1016/j.jchf.2024.08.005

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Association of Multiple Nonhypertrophic Cardiomyopathy–Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Main Result

Cite This Study

Association of Multiple Nonhypertrophic Cardiomyopathy–Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Main Result

Cite This Study

Also Consider

Also Consider