Medicina (Kaunas) 2013; 49 (9): 422-425

Contents   Full text article in English

Age-Dependent Heterogeneity of Familiar Hypertrophic Cardiomyopathy Phenotype: A Role of Cardiovascular Magnetic Resonance

Sigita Glaveckaitė1, Alfredas Rudys1, Violeta Mikštienė2, Nomeda Valevičienė3, Darius Palionis3, Aleksandras Laucevičius1

1Department of Cardiovascular Medicine, Vilnius University, 2Department of Human and Medical Genetics, Vilnius University, 3Department of Radiology, Nuclear Medicine and Physics of Medicine, Vilnius University, Lithuania

Key words: hypertrophic cardiomyopathy; cardiovascular magnetic resonance; myosin-binding protein C gene; phenotypic heterogeneity.

Summary. 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.

Correspondence to S. Glaveckaitė, Department of Cardiovascular Medicine, Vilnius University, Santariškių 2, 08661 Vilnius, Lithuania. E-mail:

Received 4 September 2013, accepted 30 September 2013