title: Arrhythmogenic right ventricular cardiomyopathy with left ventricular involvement: a novel splice site mutation in the DSG2 gene.
abstract: We report the case of a 37-year-old male patient admitted to the cardiac intensive care unit for acute pulmonary edema. He had a history of excessive alcoholic consumption and had had a viral syndrome in the preceding 10 days. A transthoracic echocardiogram revealed severe biventricular dysfunction, mild dilatation of the left heart chambers, and severe dilatation of the right chambers. Nonsustained ventricular tachycardia with a left bundle branch block morphology was detected during electrocardiographic monitoring. In the follow-up, he underwent a contrast-enhanced transthoracic echocardiogram and a cardiac resonance which were compatible with the diagnosis of arrhythmogenic right ventricular cardiomyopathy with biventricular involvement. Molecular analysis detected the mutation c.1423+2T>G (IVS10 ds +2T>G) in intron 10 of the gene DSG2 (desmoglein-2) in heterozygosity. To our knowledge, this mutation has not been previously described in arrhythmogenic right ventricular cardiomyopathy.
authors: Cardiology Department, Alto Ave Hospital Centre, Guimarães, Portugal.
authors: Marina
authors: M
authors: Pereira Fernandes
authors: Olga
authors: O
authors: Azevedo
authors: Vitor
authors: V
authors: Pereira
authors: Lucy
authors: L
authors: Calvo
authors: António
authors: A
authors: Lourenço
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D051301:Desmoglein 2 / Q000235:genetics*; D004452:Echocardiography; D004562:Electrocardiography; D006352:Heart Ventricles / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009154:Mutation; D017180:Tachycardia, Ventricular / Q000175:diagnosis*; D018754:Ventricular Dysfunction / Q000503:physiopathology*
chemical_list: C495314:DSG2 protein, human; D051301:Desmoglein 2