What question did this study set out to answer?

The study aims to evaluate how different genotypes influence cardiac characteristics in children with hypertrophic cardiomyopathy.

February 2, 2026

Influence of genotype on cardiac phenotype in paediatric hypertrophic cardiomyopathy: a CMR-based study

Q: What does this research mean for the field?

MYH7 mutations in paediatric hypertrophic cardiomyopathy are associated with a higher prevalence of left ventricular outflow tract obstruction. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Key Result

MYH7 mutations in paediatric hypertrophic cardiomyopathy were associated with higher prevalence of left ventricular outflow tract obstruction (p=0.024).

Key Points

The study aims to evaluate how different genotypes influence cardiac characteristics in children with hypertrophic cardiomyopathy.
Conducted a cohort study with 126 pediatric patients aged ≤18 with familial hypertrophic cardiomyopathy.
Utilized cardiac magnetic resonance imaging to assess morphological and functional parameters at diagnosis.
Categorized patients based on genetic findings: MYBPC3, MYH7, thin filament variants, and genotype-negative.
MYH7 mutations were linked to a higher frequency of obstructive features (p=0.024).
Thin filament variants and MYH7 showed a trend towards higher late gadolinium enhancement (p=0.078).
Genotype-negative patients had higher left ventricular ejection fraction and cardiac output (p=0.017 and p=0.048).
Patients with MYBPC3 mutations had larger indexed left ventricular end-systolic volume (p=0.022).

Structured PICO

Does genotype influence CMR-derived cardiac phenotype in paediatric hypertrophic cardiomyopathy?

Population

126 paediatric patients (aged ≤18 years) with sarcomeric or nonsyndromic familial hypertrophic cardiomyopathy (HCM), median age 12 [IQR 10-15] years.

Intervention

Genotype categorization (MYBPC3, MYH7, thin filament variants, genotype-negative)

Comparator

Comparison among the four genotype groups

Outcome

Morphological and functional parameters on CMR at diagnosissurrogate

Distinct CMR-derived phenotypic differences exist across genetic subgroups in paediatric HCM, which may aid in risk stratification.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

Abstract Background Paediatric hypertrophic cardiomyopathy (HCM) presents with variable phenotypic expression, influenced by the underlying genetic background. This study aimed to assess genotype-phenotype correlations using cardiac magnetic resonance (CMR) imaging at diagnosis in a cohort of paediatric patients. Methods 126 patients aged ≤18 years with sarcomeric or nonsyndromic familial HCM underwent CMR at diagnosis. Patients were categorized into four groups based on genetic findings: MYBPC3 (n=44), MYH7 (n=47), thin filament variants (TNNT2, TNNI3, or ACTC1) (n=19), and genotype-negative (n=16). Morphological and functional parameters were compared among groups. Results Median age was 12 IQR 10-15 years without significant difference between genotype (p=0.474). Patients with MYH7 mutations were more frequently obstructive compared to other genotypes (p=0.024). There was a trend towards higher prevalence of late gadolinium enhancement (LGE) in patients with thin filament variants and MYH7 (p=0.078). Genotype-negative patients exhibited higher left ventricular ejection fraction (LVEF) and cardiac output (LVCO) compared to other groups (p=0.017 and p=0.048, respectively). Conversely, patients with MYBPC3 mutations had larger indexed left ventricular end-systolic volume (LVESVi) (p=0.022). Conclusion This study highlights distinct CMR-derived phenotypic differences across genetic subgroups in paediatric HCM. MYH7 mutations were associated with a higher prevalence of left ventricular outflow tract obstruction, thin filament variants with increased fibrosis, while genotype-negative patients had higher LVEF. These findings may contribute to improved risk stratification and tailored management in paediatric HCM.

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