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- Title
The Cumulative Effects of the MYH7 -V878A and CACNA1C -A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy.
- Authors
Wang, Bo; Guo, Rui-Qi; Wang, Jing; Yang, Fan; Zuo, Lei; Liu, Ying; Shao, Hong; Ju, Yan; Sun, Chao; Xu, Lei; Zhang, Yan-Min; Wang, Li-Feng; Liu, Li-Wen
- Abstract
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 MYH 7-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.
- Subjects
HYPERTROPHIC cardiomyopathy; GENETIC mutation; ELECTROCARDIOGRAPHY; CARDIAC magnetic resonance imaging; ECHOCARDIOGRAPHY
- Publication
Cardiology, 2017, Vol 138, Issue 4, p228
- ISSN
0008-6312
- Publication type
Article
- DOI
10.1159/000478900