Open AccessDouble 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
Author(s) -
Mastroianno Sandra,
Palumbo Pietro,
Castellana Stefano,
Leone Maria Pia,
Massaro Raimondo,
Potenza Domenico Rosario,
Mazza Tommaso,
Russo Aldo,
Castori Marco,
Carella Massimo,
Di Stolfo Giuseppe
Publication year - 2020
Publication title -
annals of noninvasive electrocardiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.494
H-Index - 48
eISSN - 1542-474X
pISSN - 1082-720X
DOI - 10.1111/anec.12687
Subject(s) - medicine , missense mutation , dilated cardiomyopathy , cardiology , atrioventricular block , cardiomyopathy , phenotype , restrictive cardiomyopathy , mutation , heart failure , gene , genetics , biology
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.