Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.

ABSTRACT:

Background

Autosomal dominantly inherited PRKAG2 cardiac syndrome is due to a unique defect of the cardiac cell metabolism and has a distinctive histopathology with excess intracellular glycogen, and prognosis different from sarcomeric hypertrophic cardiomyopathy. We aimed to define the distinct characteristics of PRKAG2 using cardiovascular magnetic resonance (CMR).

Methods

CMR (1.5 T) and genetic testing were performed in two families harboring PRKAG2 mutations. On CMR, segmental analysis of left ventricular (LV) hypertrophy (LVH), function, native T1 mapping, and late gadolinium enhancement (LGE) were performed.

Results

Six individuals (median age 23 years, range 16-48; two females) had a PRKAG2 mutation: five with an R302Q mutation (family 1), and one with a novel

SUBMITTER: Poyhonen P 

PROVIDER: S-EPMC4619453 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature