Key result
Dual MYH7 and CACNA1C mutations are linked to more severe LVH and elevated filling pressures.
Why the study?
The pathogenesis and combined effects of MYH7-V878A and CACNA1C-A1594V mutations in hypertrophic cardiomyopathy were unclear.
Do MYH7-V878A and CACNA1C-A1594V mutations have a cumulative effect on the severity of hypertrophic cardiomyopathy in a Chinese family?
Observational
Do MYH7-V878A and CACNA1C-A1594V mutations have a cumulative effect on the severity of hypertrophic cardiomyopathy in a Chinese family?
p-value: p=<0.05
The co-occurrence of MYH7-V878A and CACNA1C-A1594V mutations may have a cumulative effect, leading to more severe hypertrophic cardiomyopathy phenotypes.
AIMS: We investigated the pathogenesis of MYH7-V878A and CACNA1C-A1594V mutations in a Chinese family with hypertrophic cardiomyopathy. METHODS: Clinical, electrocardiographic (ECG), echocardiographic, and cardiac magnetic resonance (CMR) examinations of members of a Chinese family were followed by exon and boarding intron analyses of 96 genes in the proband using second-generation sequencing. We confirmed the mutations by bidirectional Sanger sequencing in the members and in 300 healthy controls. RESULTS: We detected MYH7-V878A and CACNA1C-A1594V mutations in this family. The members with both mutations showed inverted T-waves and ST-segment depression in ECG recordings, severe left ventricular (LV) hypertrophy in echocardiography, and myocardial fibrosis in CMR; subject II-11 did not show late gadolinium enhancement. Among those with only the MYH7-V878A mutation, subject III-7 showed abnormal ECG recordings, asymmetric septal hypertrophy, and myocardial fibrosis, and subjects II-13 and III-15 showed some abnormal repolarization, borderline LV wall thickness, and normal CMR findings. Those with only the CACNA1C-A1594V mutation showed nearly normal readings in all examinations. The members with both mutations displayed more severe LV hypertrophy and elevated LV filling pressure than those with 1 or no mutation (p < 0.05). CONCLUSION: Our results suggest that the pathogenesis of MYH7-V878A and CACNA1C-A1594V mutations may have a cumulative effect.
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Wang et al. (2017) conducted an observational in Hypertrophic cardiomyopathy. MYH7-V878A and CACNA1C-A1594V mutations vs. 1 or no mutation was evaluated on Severity of left ventricular hypertrophy and left ventricular filling pressure (p=<0.05). Co-occurrence of MYH7-V878A and CACNA1C-A1594V mutations was associated with more severe left ventricular hypertrophy and elevated filling pressure than 1 or no mutation (p < 0.05).
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