[Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy].

OBJECTIVE: To screen the MYBPC3 gene mutations in Han Chinese patients with hypertrophic cardiomyopathy (HCM). METHODS: Sixty-six patients with HCM were enrolled for the study. The exons in the functional regions of MYBPC3 were amplified with PCR and the products were sequenced. RESULTS: Four novel mutations and four common polymorphisms were identified in this patient cohort. A Lys301fs mutation in exon10 was evidenced in a H30, and when he was 47 years old, he had the chest tightness, shortness of breath with septal hypertrophy of 18.7mm; a Asp463stop mutation in exon17 was detected in a H48, he was 24 years old 24-year-old when a medical examination showed ventricular septal hypertrophy of 15.4 mm; both Gly523Arg mutation in exon18 and Tyr847His mutation in exon26 were found in a H53 with onset age 36 years old, feeling chest tightness after excise and his ventricular septal hypertrophy was 27 mm that time. MYBPC3 mutations occurred in 4.5% patients in this cohort. These mutations were not found in 100 non-HCM control patients. CONCLUSION: MYBPC3 mutation is presented in a small portion of Han Chinese patients with HCM.

[The effect of carvedilol on apoptosis gene PDCD5 expression in chronic heart failure patients].

OBJECTIVE: To observe the changes of serum PDCD5 antibody in chronic ischemic heart failure patients and the effect of carvedilol treatment. METHODS: Twenty chronic ischemic heart failure patients, 11 males and 9 females, aged 58 +/- 13, with the left ventricular ejection fraction (LVEF) < 45% by echocardiography and New York Heart Association (NYHA) cardiac function classification II-III, were treated with carvedilol for 6 months with a target dosage of 50 mg/d. The serum PDCD5 antibody was tested by ELISA before and after carvedilol treatment and compared with those of 20 healthy persons. RESULTS: The A value of PDCD5 antibody in the heart failure patients was 3.5 +/- 1.4, significantly higher that in than healthy persons (1.9 +/- 1.0, P < 0.01). After treatment of carvedilol, the A value of PDCD5 antibody in the heart failure patients decreased to 2.5 +/- 1.2 (P < 0.05). In 6 months maintenance treatment, 14 (70%) patients reached the dosage 50 mg/d, 4 (20%) reached 25 mg/d, and 2 (10%) reached 12.5 mg/d. Five patients (25%) had side effect such as dizziness, nausea and cough, one patient (5%) was hospitalized for 3 weeks because of heart failure, no patient died. After treatment of carvedilol, the NYHA degree increased by 0.3 (P < 0.05), LVEF increased from 35.5% +/- 7.8% to 42.7% +/- 9.6% (P < 0.05), left ventricular end-diastolic diameter decreased 5.3 mm (P < 0.05), and left ventricular end-systolic diameter decreased by 8.1 mm (P < 0.01). CONCLUSION: The titer of apoptosis gene PDCD5 antibody in the serum of chronic ischemic heart failure patients are higher, which shows apoptosis and treatment of carvedilol significantly decreases its titer.