• Medientyp: E-Artikel
  • Titel: Arrhythmogenic Right Ventricular Cardiomyopathy with Left Ventricular Involvement: A Novel Splice Site Mutation in the DSG2 Gene
  • Beteiligte: Pereira Fernandes, Marina; Azevedo, Olga; Pereira, Vitor; Calvo, Lucy; Lourenço, António
  • Erschienen: S. Karger AG, 2015
  • Erschienen in: Cardiology, 130 (2015) 3, Seite 159-161
  • Sprache: Englisch
  • DOI: 10.1159/000369057
  • ISSN: 0008-6312; 1421-9751
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:p>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&gt;G (IVS10 ds +2T&gt;G) in intron 10 of the gene &lt;i&gt;DSG2&lt;/i&gt; (desmoglein-2) in heterozygosity. To our knowledge, this mutation has not been previously described in arrhythmogenic right ventricular cardiomyopathy.</jats:p>