Assessing the significance of pathogenic mutations and autopsy findings in the light of 2010 arrhythmogenic right ventricular cardiomyopathy diagnostic criteria: a clinical challenge.
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چکیده
منابع مشابه
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
BACKGROUND Idiopathic dilated cardiomyopathy is a familial disorder in 25% to 50% of patients, but the genetic basis in the majority of cases remains unknown. Genes encoding desmosomal proteins, currently regarded as synonymous with another disorder, arrhythmogenic right ventricular cardiomyopathy, are known to cause left ventricular dysfunction, but their importance in unselected patients with...
متن کاملArrhythmogenic right ventricular dysplasia/ cardiomyopathy versus dilated right ventricular cardiomyopathy: a problematic autopsy diagnosis?
Arrhythmogenic right ventricular dysplasia-cardiomyopathy (ARVD-C) is a rare heart condition with characteristic thinning and fibroadipose tissue replacement of the myocardium of the right ventricular wall. We have seen 20 autopsy cases with morphologic features fitting the criteria of ARVD-C in our hospital in the past 5 years. The clinical characteristics of these patients were not those desc...
متن کاملRight Ventricular Non-Compaction Cardiomyopathy in Children: Brief Review Literature
Right ventricular non-compaction cardiomyopathy (RVNC) is a genetic heterogeneous cardiomyopathy. Despite the increasing number of RVNC cases, the classification and natural history of this disorder are not completely clear. Also, because the pathogenic non-compaction cannot be easily differentiated from normal trabeculations, it is usually hard to accurately measure the prevalence of RV ...
متن کاملDesmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
BACKGROUND Idiopathic dilated cardiomyopathy (DCM) is the most frequent indication for orthotopic heart transplantation. It has been suggested that mutations in genes encoding desmosomal proteins, more typically associated with arrhythmogenic right ventricular cardiomyopathy, are a cause of DCM. OBJECTIVES To determine the frequency of desmosomal protein gene mutations in heart transplant rec...
متن کاملArrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria.
BACKGROUND Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Diagnostic Task Force Criteria (TFC) proposed in 1994 are highly specific but lack sensitivity. A new international task force modified criteria to improve diagnostic yield. A comparison of diagnosis by 1994 TFC versus newly proposed criteria in 3 patient groups was conducted. METHODS AND RESULTS In new TFC, scoring...
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عنوان ژورنال:
- Circulation. Cardiovascular genetics
دوره 5 4 شماره
صفحات -
تاریخ انتشار 2012