Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy

Sandra Mastroianno, Pietro Palumbo, Stefano Castellana, Maria Pia Leone, Raimondo Massaro, Domenico Rosario Potenza, Tommaso Mazza, Aldo Russo, Marco Castori, Massimo Carella, Giuseppe Di Stolfo

Research output: Contribution to journalArticle

Abstract

Cardiomyopathies caused by double gene mutations are rare but conferred a remarkably increased risk of end-stage progression, arrhythmias, and poor outcome. Compound genetic mutations leading to complex phenotype in the setting of cardiomyopathies represent an important challenge in clinical practice, and genetic tests allow risk stratification and personalized clinical management of patients. We report a case of a 50-year-old woman with congestive heart failure characterized by dilated cardiomyopathy, diffuse coronary disease, complete atrioventricular block, and missense mutations in cardiac myosin-binding protein C (MYBPC3) and myopalladin (MYPN). We discuss the plausible role of genetic profile in phenotype determination.

Original languageEnglish
Article numbere12687
JournalAnnals of Noninvasive Electrocardiology
DOIs
Publication statusAccepted/In press - Jan 1 2019

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Keywords

  • cardiac myosin-binding protein C
  • complete atrioventricular block
  • diffuse coronary atherosclerosis
  • dilated cardiomyopathy
  • myopalladin

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

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