Abstract
Background
No data are available on survival analysis and longitudinal evolution of patients with gene mutations of beta‐myosin heavy chain (MYH 7) and myosin binding protein C (MYBPC 3) in Chinese.
Hypothesis
To prospectively investigate whether different gene mutations confer distinct prognosis.
Methods
We performed a prospective study in 70 HCM patients and 46 genetically affected family members without HCM‐phenotype with direct DNA sequencing of MYH 7 and MYBPC 3, clinical assessments, and 5.8 ± 1.8 years follow‐up.
Results
After follow‐up, more surgical intervention (8/52 versus 0/18, p < 0.001), higher sudden death risk (7/52 versus 0/18, p < 0.001) and shorter life span were found in patients with MYH 7 mutations than in patients with MYBPC 3 mutations (45.1 ± 14.0 versus 73.5 ± 7.5 years, p = 0.03). Seven of the 27 mutation carriers of MYH 7 had clinical presentations of HCM, but no carriers of MYBPC 3 mutations developed to HCM during follow‐up. Maximal wall thickness was thicker in the patients carrying mutations in the global region of MYH 7 than in those carrying mutations in the rod region of MYH 7 (21.5 ± 6.6 versus 15 ± 6.1 mm, p < 0.05) at baseline. More sudden death (7/41 versus 0/11) and left ventricular dysfunction (NYHA Class III ∼ IV, 17/32 versus 1/10) were identified in patients with mutations in the global region of MYH 7 than in patients with other mutations.
Conclusions
MYH 7 mutations, especially in the global region, cause malignant clinical phenotypes Copyright © 2008 Wiley Periodicals, Inc.
Keywords: genotype, prognosis, hypertrophic cardiomyopathy
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