ABSTRACT
Objective@#To identify the disease-causing mutations in a pedigree with familial hypertrophic cardiomyopathy (HCM) from Yunnan province, and analyze the relationship between the genotype and the phenotype.@*Methods@#The blood samples and the clinical data of the HCM family members were collected.The coding exons and their flanking intronic regions of 28 previously reported genes related to HCM were screened in the proband by high-throughput sequencing. The mutations in proband were confirmed and detected in all family members as well as in 159 healthy controls by Sanger sequencing.The relationship between the genotype and the phenotype was analyzed in this pedigree.@*Results@#Two missense mutations of Arg1045His and Ala26Val in β myosin heavy chain gene(MYH7) were identified. Genetic screening showed that the mother and brother of the proband carried Arg1045His mutation.Both mutations were absent in other family members and in 159 healthy controls.Disease onset age was less than 50 years old in this pedigree, chest pain, exertional dyspnea and syncope were the major symptoms, and all accompanied by severe left ventricular hypertrophy and left ventricular outflow tract stenosis.The grandma of the proband suffered sudden cardiac death. The proband had the worst symptoms and the earliest disease onset in this pedigree.@*Conclusions@#We find a pedigree with familial HCM from Yunnan province carrying MYH7 Arg1045His and Ala26Val mutations. The study suggests that Arg1045His mutation in MYH7 gene caused HCM is malignant with early onset, severe ventricular hypertrophy and poor prognosis. Arg1045His and Ala26Val double-mutant might have dosage effects and aggravate the clinical phenotype of the patient.
ABSTRACT
OBJECTIVE@#To explore the alteration and the clinical significance of QT dispersion in acute pulmonary embolism (PE).@*METHODS@#From May 2011 to April 2012, 42 hospitalized PE patients in Xiangya Hospital of Central South University were enrolled, and divided into a high-risk group and a non-high-risk group according to the clinic state on admission. Another 30 healthy subjects with matched age and genders were enrolled as a normal control group. QT interval was measured manually in 12- lead conventional electrocardiogram within 24 hours on admission and after the treatment. QT dispersion (QTd) and heart rate-corrected QT dispersion (QTcd) were also calculated. All patients were followed up during hospitalization, and were divided to a death group and a survival group.@*RESULTS@#QTd and QTcd in the high-risk group [(70.2±34.0), (88.1±43.3) ms] and the non-high-risk group [(49.3±21.8), (59.1±26.2) ms] were significantly higher than those in the normal control group[(33.2±12.4), (36.7±14.2) ms] (P0.05). Logistic regression showed that high-risk of PE, right ventricular dysfunction and high QTcd after the treatment were the main risk factors of hospital death.@*CONCLUSION@#QTd and QTcd are increased in PE. PE patients with right ventricular dysfunction, high-risk of PE, and high QTcd after the treatment suggest weak prognosis.