title: Review on the genetics of arrhythmogenic right ventricular dysplasia.
abstract: Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity whose diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular (RV) free wall. There is a familial occurrence in about 50% of cases, with autosomal dominant inheritance with variable penetrance and polymorphic phenotypic expression, and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the extensive form of ARVCM (arrhythmogenic right ventricular cardiomyopathy). In this review, we focus on the some candidate genes mutations and information on some genotype-phenotype correlation in the ARVD. Our findings are in agreement with those of European Society of Cardiology who stated that: genetic analysis is usefull in families with RV cardiomyopathy because whenever a pathogenetic mutation is identified, it becomes possible to establish a presymptomatic diagnosis of the disease among family members and to provide them with genetic counseling to monitor the development of the disease and to assess the risk of transmitting the disease offspring. On the basis of current knowledge, genetic analysis does not contribute to risk stratification of arrhythmogenic RV cardiomyopathy.
authors.affiliation: Department of Biochemistry, Medical University of Silesia, Narcyzów 1, 41-200 Sosnowiec, Poland. ejaniszewska@slam.katowice.pl
authors.forename: Ewa
authors.initials: E
authors.lastname: Moric-Janiszewska
authors.forename: Grazyna
authors.initials: G
authors.lastname: Markiewicz-Loskot
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000293:Adolescent; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D016757:Death, Sudden, Cardiac; D003893:Desmin / Q000235:genetics; D051187:Desmocollins / Q000235:genetics; D051182:Desmogleins / Q000235:genetics; D051180:Desmoplakins / Q000235:genetics; D006801:Humans; D060588:LIM Domain Proteins; D009154:Mutation / Q000235:genetics*; D051191:Plakophilins / Q000235:genetics; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D017474:Receptors, Laminin / Q000235:genetics; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D053782:Transforming Growth Factor beta3 / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003893:Desmin; D051187:Desmocollins; D051182:Desmogleins; D051180:Desmoplakins; C120696:LDB3 protein, human; D060588:LIM Domain Proteins; D051191:Plakophilins; D017474:Receptors, Laminin; D019837:Ryanodine Receptor Calcium Release Channel; C509044:TGFB3 protein, human; D053782:Transforming Growth Factor beta3; C404489:HACD1 protein, human; D017027:Protein Tyrosine Phosphatases