What is the clinical evidence from this study?

Study design: Observational. Population: Familial hypertrophic cardiomyopathy (n=55). Intervention: Sarcomeric gene mutations vs. Controls. Primary outcome: Cardiac phosphocreatine (PCr) to ATP ratio at rest (p=<0.001).

What does this research mean for the field?

Sarcomeric gene mutations causing hypertrophic cardiomyopathy result in impaired cardiac bioenergetics with a reduced phosphocreatine-to-ATP ratio, regardless of the presence of left ventricular hypertrophy. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To determine whether impaired cardiac energetic status in sarcomeric hypertrophic cardiomyopathy is a primary consequence of sarcomeric gene mutations or secondary to left ventricular hypertrophy.

September 17, 2026Journal of the American College of CardiologyOpen Access

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy

Q: What are the key findings of this study?

Sarcomeric gene mutations for hypertrophic cardiomyopathy were associated with a reduced cardiac phosphocreatine to ATP ratio compared to controls (1.70 vs. 2.44; p < 0.001).

Q: What does this research mean for the field?

Sarcomeric gene mutations causing hypertrophic cardiomyopathy result in impaired cardiac bioenergetics with a reduced phosphocreatine-to-ATP ratio, regardless of the presence of left ventricular hypertrophy. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Q: What question did this study set out to answer?

To determine whether impaired cardiac energetic status in sarcomeric hypertrophic cardiomyopathy is a primary consequence of sarcomeric gene mutations or secondary to left ventricular hypertrophy.

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Key result

Sarcomeric HCM mutations are linked to a ~30% lower cardiac phosphocreatine to ATP ratio.

P<0.001
n=55

Why the study?

The mechanism by which sarcomeric protein gene mutations cause familial hypertrophic cardiomyopathy is uncertain, and in vivo data on cardiac energetics in genotyped HCM patients are lacking.

Population

31 patients with sarcomeric gene mutations causing HCM and 24 controls

Comparison

HCM mutation carriers with and without LV hypertrophy vs controls

Design

Observational study using phosphorus-31 magnetic resonance spectroscopy

Authors

JCJenifer CrilleyCounty Durham and Darlington NHS Foundation Trust EBErnest BoehmCentre National de la Recherche Scientifique EBEdward BlairNuffield Orthopaedic Centre

Discussion

Member takes

Implication

Observational study demonstrates reduced myocardial energy status across sarcomeric mutation carriers, indicating that metabolic impairment precedes cardiac hypertrophy.

Key Points

To determine whether impaired cardiac energetic status in sarcomeric hypertrophic cardiomyopathy is a primary consequence of sarcomeric gene mutations or secondary to left ventricular hypertrophy.
Assessed cardiac energy metabolism by measuring the resting myocardial phosphocreatine-to-adenosine triphosphate (PCr/ATP) ratio using phosphorus-31 magnetic resonance spectroscopy.
Evaluated subjects categorized into three groups: sarcomeric mutation carriers with left ventricular hypertrophy (n=31), sarcomeric mutation carriers without hypertrophy (n=20), and healthy control subjects (n=23).
Resting cardiac PCr/ATP ratios were significantly decreased in mutation carriers with hypertrophy (1.47 ± 0.31) and mutation carriers without hypertrophy (1.71 ± 0.33) compared to healthy controls (2.14 ± 0.35, P<0.001).
Myocardial energy deficiency occurred in the absence of wall thickening, establishing that energetic impairment represents a direct primary manifestation of sarcomere gene defects rather than a consequence of hypertrophy.

Study Design

Type

Observational (n=55)

PICO

Population

55 subjects, comprising 31 patients harboring mutations in sarcomeric protein genes for familial hypertrophic cardiomyopathy and 24 controls.

Exposure / Comparator

Sarcomeric gene mutations vs Controls

Primary Outcome

Cardiac phosphocreatine (PCr) to ATP ratio at rest, p=<0.001

Main Result

Absolute Event Rate: 1.7% vs 2.44%

p-value: p=<0.001

Cite This Study

Crilley et al. (2003) conducted an observational in Familial hypertrophic cardiomyopathy (n=55). Sarcomeric gene mutations vs. Controls was evaluated on Cardiac phosphocreatine (PCr) to ATP ratio at rest (p=<0.001). Sarcomeric gene mutations for hypertrophic cardiomyopathy were associated with a reduced cardiac phosphocreatine to ATP ratio compared to controls (1.70 vs. 2.44; p < 0.001).

synapsesocial.com/papers/6aabafd520b725bb9d86eff8 https://doi.org/10.1016/s0735-1097(02)03009-7

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Implication

Observational study demonstrates reduced myocardial energy status across sarcomeric mutation carriers, indicating that metabolic impairment precedes cardiac hypertrophy.

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy

Discussion

Member takes

Implication

Key Points

Study Design

PICO

Main Result

Cite This Study

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy

Discussion

Member takes

Implication

Key Points

Study Design

PICO

Main Result

Cite This Study

Also Consider

Also Consider