Caused By Arrhythmogenic Right Ventricular Cardiomyopathy, A Genetic Linkage Association Studies

ABSTRACT?1 A study on arrhythmogenic right ventricular cardiomyopathy in seven ChinesefamiliesObjective To provide epidemiology and explore the genetic characteristics of familial arrhythmogenic right ventricular cardiomyopathy (ARVC) in Chinese.Methods Statistic epidemiololgy data with 33 ARVC patients. Sixteen patients with ARVC were collected, including the information of family history and essential cardiac examinations. Diagnosis of ARVC was established by the Criteria of European Society of Cardiology.Results there were 18 males and 15 females in 33 ARVC patients, the average diagnosis age of whom was 42.8 ?14.9 years(x). Seventy percent of Patients were between20-.50 years. Seven of those patients presented obviously predisposition of familial inheritance, Among the seven families, 31 patients with ARVC were diagnosed including the probands, the average diagnosis age of whom was 38.9 + 15.0 years. All the families displayed the genetic mode at autosomal dominance. Except the probands, only 19% of the patients in the families had clinic symptoms. Every family11had its own characteristic of clinic and electrocardiography and Echocardiography. Posterior part notch Of QRS wave in procordial lead was often seen in familial cases. Terminal notch Of QRS wave in right thorax lead was often seen in familial cases. 74% patients in the families characterized with positive signal-averaging electrocardiography. Most of patients manifested prominent trabeculations through 2Dimensional echo-cardiography. The maj or alteration of right ventricular (RV) was located within the triangle of dysplasia, which were the anterior infundibulum, the right ventricular apex and the inferior or diaphragmatic aspect of the right ventricular. It was rather popular that thin wall with akinetic areas microaneurysm formation in lesion sites. Right atrium and RV were enlarged in serious patients with this disease.Conclusion ARVC, mainly onsets in the young or adults and male more than female, has obviously autosomaldominant genetic predisposition in Chinese, which presents genetic heterogeneity and complicated clinical manifestation.