ABSTRACT
Objective To identify the pathogenic variant responsible for restrictive cardiomyopathy (RCM) in a Chinese family.Methods Next generation sequencing was used for detecting the mutation and Results verified by sequencing. We used restriction enzyme digestion to test the mutation in the family members and 200 unrelated normal subjects without any cardiac inherited diseases when the mutation was identified.Results Five individuals died from cardiac diseases, two of whom suffered from sudden cardiac death. Two individuals have suffered from chronic cardiac disorders. Mutation analysis revealed a novel missense mutation in exon 7 of troponin I type 3 (TNNI3), resulting in substitution of serine (S) with proline (P) at amino acid position 150, which cosegregated with the disease in the family, which is predicted to be probably damaging using PolyPhen-2. The mutation was not detected in the 200 unrelated subjects we tested.Conclusion Using next generation sequencing, which has very recently been shown to be successful in identifying novel causative mutations of rare Mendelian disorders, we found a novel mutation of TNNI3 in a Chinese family with RCM.
ABSTRACT
<p><b>OBJECTIVE</b>To assess the risk factors and coronary angiography characteristics of female patients with acute coronary syndrome (ACS).</p><p><b>METHODS</b>A total of consecutive 986 inpatients with ACS who had undergone coronary angiography from March 2009 to August 2010 in our hospital were enrolled in this study. There were 303 female patients and 683 male patients. Clinical data were collected by physicians and the severity of coronary artery stenosis was analyzed via the international Gensini Score system.</p><p><b>RESULTS</b>Incidence of ACS under the age of 60 years [8.6% (26/303) vs. 16.5% (113/683), P < 0.05], family history of coronary artery disease [15.8% (48/303) vs. 23.0% (157/683), P < 0.05], and smokers [19.1% (58/303) vs. 71.7% (490/683), P < 0.001] were significantly less while hypertension [81.5% (247/303) vs. 64.0% (437/536), P < 0.001] and diabetes rate [51.8% (157/303) vs. 44.0% (298/683), P < 0.05] were significantly higher in female patients than in male patients. The comorbidities of dyslipidemia, adiposity, hyper-C-reaction protein and hyperfibrinogenemia were similar between male and female patients (P > 0.05). Unstable angina and non-ST-segment elevation myocardial infarction were more often [86.1% (261/303) vs. 78.5% (536/683)], while ST-segment elevation myocardial infarction was less [13.9% (42/303) vs. 21.5% (147/683), P = 0.005] in female patients than in male patients. There were significantly more incidence of mild coronary artery stenosis [15.0% (47/303) vs. 10.0% (68/683), P = 0.012] and less severely stenotic lesions [84.2% (255/303) vs. 89.8% (613/683), P = 0.013] in female patients than in male patients. Gensini score, percutaneous intervention rate and in-hospital mortality rate were similar between male and female patients with ACS (P > 0.05).</p><p><b>CONCLUSIONS</b>Prevalence rates of diabetes mellitus and hypertension are higher while positive family history on coronary artery disease and smoking rate are lower in female patients with ACS than in male ACS patients. Female ACS patients are often presented with unstable angina or non-ST-segment elevation myocardial infarction and with mild coronary artery stenosis compared to male ACS patients.</p>