Clinical Study Of Arrhythmogenic Right Ventricular Cardiomyopath And Screen Of Genes Mutations In A Family Of Arrhythmogenic Right Ventricular Cardiomyopathy

Partâ… Clinical Study of Arrhythmogenic Right Ventricular CardiomyopathyObjective:To explore the clinical feature,diagnosis and therapy of arrhythmogenic right ventricular cardiomyopathy(ARVC) and to improve the recognition of this disease.Methods:58 cases of ARVC who were admitted to our hospital from 2003.1 to 2007.12 were included in this study.We reviewed the clinical manifestations,electrocardiogram,echocardiogram,electrophysiology study of the patients and therapy.Results:All the patients,34 cases of male and 24 of female,were aged 38.3±16.2 years on diagnosis.Initial presentation mean age was 33.0±14.9 years.Recurrent palpitations and chest distress was found in 46 patients(79.3%) and syncope in 18 patients(31.0%).The mean age of onset of syncope was 33.5±15.2 years.Epsilon waves was found in 19 patients (32.8%),most in right precordial leads(V₁～V₃).Mean QRS duration in right precordial leads(QRS1,V₁ + V₂ + V₃/ 3 ) was 0.12±0.03s.Mean QRS duration in left precordial leads(QRS2,V₄ + V₅ + V₆/3) was 0.10±0.02s.QRS1/QRS2 was 1.26±0.18,localized right precordial QRS prolongation(QRS1/QRS2≥1.2) was present in 33 patients(56.9%).T wave inversions were present in 35 cases(60.3%),most in right precordial leads(V₁～V₃).Ventricular tachycardia was found in 39 patients,of them 36 were complete left ventricular bundle branch block.Most patients showed enlargement of right ventricular,dilatation and thinning of partly ventricular,and dyskinetic or hypokinetic zones in echocardiography.21 patients(48.8%) were found thinning in apex of right ventricular,18(41.9%) in outflow tract.22 patients(56.4%) were found bulge in apex of right ventricular,11(28.2%) in outflow tract.Medical treatments included sotalol(39.5%) and beta-blockers(30.2%).18 patients underwent electrophysiologic study and radiofrequency catheter ablation(EPS+RFCA),15 succeeded and 2 recurrence.Conclusion:1.Predominance in males.2.The early clinical manifestations of ARVC are delitescence.Ventricular tachycardia from right ventricular is the main manifestation.3.Epsilon waves and localized right precordial QRS prolongation in Standard ECG may have high value in the clinical diagnosis of ARVC.4.Apex and outflow tract of right ventricle is the predilection site.5.Sotalol and Beta-blockers are the main medical treatment with some effects.6.Radiofrequency ablation has shown the superiority. Partâ…¡Screen of Genes Mutations in A Family of Arrhythmogenic Right Ventricular CardiomyopathyObjective:To study the genes(PKP2 and DSP) mutations in a Chinese family of arrhythmogenic right ventricular cardiomyopathy.Methods:A Chinese family of arrhythmogenic right ventricular cardiomyopathy were chosen for the study.We designed the primer pairs according to the references about the hot piont mutations in ARVC.Exons in the functional regions of the PKP2 and DSP genes were amplified with polymerase chain reactions(PCR) respectively,and the products were sequenced.Results:In this family,two sequence changes were found:a insert-A was identified ahead codon 1 in the exon 1 of DSP gene,a G-A transversion was identified in condon 723 in the exon 15 of DSP gene(Gly2091Gly).This two points can be found in NCBI gene bank which were named SNP rs17133512 and SNP rs2076304 respectively.No disease-causing mutation in PKP2 gene and DSP gene was found in this family.Conclusion:This family do not have the hot point mutations according to the foreign study.This result gives us a hint that the hot piont mutation gene in chinese family of ARVC may be different from foreigners.