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 MastroiannoPietro PalumboStefano CastellanaMaria Pia LeoneRaimondo MassaroDomenico Rosario PotenzaTommaso MazzaAldo RussoMarco CastoriMassimo CarellaDi Stolfo GiuseppePublished in: Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc (2019)
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.
Keyphrases
- binding protein
- genome wide
- heart failure
- left ventricular
- coronary artery disease
- coronary artery
- clinical practice
- intellectual disability
- copy number
- low grade
- hypertrophic cardiomyopathy
- autism spectrum disorder
- cardiac resynchronization therapy
- acute heart failure
- high resolution
- aortic valve
- molecularly imprinted