title: Age-dependent heterogeneity of familiar hypertrophic cardiomyopathy phenotype: a role of cardiovascular magnetic resonance.
abstract: In this case report, we present familiar hypertrophic cardiomyopathy with age-dependent heterogeneity of the disease phenotype among the members of one family who carry the same mutation of the myosin-binding protein C gene. Phenotypic heterogeneity is common in patients with familial forms of hypertrophic cardiomyopathy, both in clinical expression and outcome. Compared with other noninvasive cardiac imaging modalities, cardiovascular magnetic resonance provides an opportunity to more accurately characterize the varying phenotypic presentations of hypertrophic cardiomyopathy.
authors.affiliation: Department of Cardiovascular Medicine, Vilnius University, Santariškių 2, 08661 Vilnius, Lithuania. sigita.glaveckaite@santa.lt.
authors.forename: Sigita
authors.initials: S
authors.lastname: Glaveckaitė
authors.forename: Alfredas
authors.initials: A
authors.lastname: Rudys
authors.forename: Violeta
authors.initials: V
authors.lastname: Mikštienė
authors.forename: Nomeda
authors.initials: N
authors.lastname: Valevičienė
authors.forename: Darius
authors.initials: D
authors.lastname: Palionis
authors.forename: Aleksandras
authors.initials: A
authors.lastname: Laucevičius
mesh_terms: D000367:Age Factors; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis* / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C