TY - JOUR
T1 - Double missense mutations in cardiac myosin-binding protein C and myopalladin genes
T2 - A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy
AU - Mastroianno, Sandra
AU - Palumbo, Pietro
AU - Castellana, Stefano
AU - Leone, Maria Pia
AU - Massaro, Raimondo
AU - Potenza, Domenico Rosario
AU - Mazza, Tommaso
AU - Russo, Aldo
AU - Castori, Marco
AU - Carella, Massimo
AU - Di Stolfo, Giuseppe
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - cardiac myosin-binding protein C
KW - complete atrioventricular block
KW - diffuse coronary atherosclerosis
KW - dilated cardiomyopathy
KW - myopalladin
UR - http://www.scopus.com/inward/record.url?scp=85073818844&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85073818844&partnerID=8YFLogxK
U2 - 10.1111/anec.12687
DO - 10.1111/anec.12687
M3 - Article
C2 - 31524317
AN - SCOPUS:85073818844
JO - Annals of Noninvasive Electrocardiology
JF - Annals of Noninvasive Electrocardiology
SN - 1082-720X
M1 - e12687
ER -