PMID- 26496977 OWN - NLM STAT- MEDLINE DCOM- 20160707 LR - 20240117 IS - 1532-429X (Electronic) IS - 1097-6647 (Print) IS - 1097-6647 (Linking) VI - 17 DP - 2015 Oct 24 TI - Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations. PG - 89 LID - 10.1186/s12968-015-0192-3 [doi] LID - 89 AB - 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 H344P mutation (family 2). Three of six mutation carriers had LV mass above age and gender limits (203 g/m2, 157 g/m2 and 68 g/m2) and others (with R302Q mutation) normal LV masses. All mutation carriers had LVH in at least one segment, with the median maximal wall thickness of 13 mm (range 11-37 mm). Two R302Q mutation carriers with markedly increased LV mass (203 g/m2 and 157 g/m2) showed a diffuse pattern of hypertrophy but predominantly in the interventricular septum, while other mutation carriers exhibited a non-symmetric mid-infero-lateral pattern of hypertrophy. In family 1, the mutation negative male had a mean T1 value of 963 ms, three males with the R302Q mutation, LVH and no LGE a mean value of 918 +/- 11 ms, and the oldest male with the R302Q mutation, extensive hypertrophy and LGE a mean value of 973 ms. Of six mutations carriers, two with advanced disease had LGE with 11 and 22 % enhancement of total LV volume. CONCLUSIONS: PRKAG2 cardiac syndrome may present with eccentric distribution of LVH, involving focal mid-infero-lateral pattern in the early disease stage, and more diffuse pattern but focusing on interventricular septum in advanced cases. In patients at earlier stages of disease, without LGE, T1 values may be reduced, while in the advanced disease stage T1 mapping may result in higher values caused by fibrosis. CMR is a valuable tool in detecting diffuse and focal myocardial abnormalities in PRKAG2 cardiomyopathy. FAU - Poyhonen, Pauli AU - Poyhonen P AD - Heart and Lung Center, University of Helsinki and Helsinki University Hospital, Po BOX 340, Helsinki, 00029 HUCH, Finland. pauli.poyhonen@helsinki.fi. FAU - Hiippala, Anita AU - Hiippala A AD - Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. anita.hiippala@hus.fi. FAU - Ollila, Laura AU - Ollila L AD - Heart and Lung Center, University of Helsinki and Helsinki University Hospital, Po BOX 340, Helsinki, 00029 HUCH, Finland. laura.hupa@helsinki.fi. FAU - Kaasalainen, Touko AU - Kaasalainen T AD - HUS Medical Imaging Center, Radiology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. touko.kaasalainen@hus.fi. AD - HUS Medical Imaging Center, Clinical Physiology and Nuclear Medicine, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. touko.kaasalainen@hus.fi. FAU - Hanninen, Helena AU - Hanninen H AD - Heart and Lung Center, University of Helsinki and Helsinki University Hospital, Po BOX 340, Helsinki, 00029 HUCH, Finland. helena.hanninen@hus.fi. FAU - Helio, Tiina AU - Helio T AD - Heart and Lung Center, University of Helsinki and Helsinki University Hospital, Po BOX 340, Helsinki, 00029 HUCH, Finland. tiina.helio@hus.fi. FAU - Tallila, Jonna AU - Tallila J AD - Blueprint Genetics, Helsinki, Finland. jonna.tallila@blueprintgenetics.com. FAU - Vasilescu, Catalina AU - Vasilescu C AD - Molecular Neurology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland. catalina.vasilescu@helsinki.fi. FAU - Kivisto, Sari AU - Kivisto S AD - HUS Medical Imaging Center, Radiology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. sari.kivisto@hus.fi. FAU - Ojala, Tiina AU - Ojala T AD - Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. tiina.h.ojala@hus.fi. FAU - Holmstrom, Miia AU - Holmstrom M AD - HUS Medical Imaging Center, Radiology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. miia.holmstrom@hus.fi. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20151024 PL - England TA - J Cardiovasc Magn Reson JT - Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance JID - 9815616 RN - 0 (Contrast Media) RN - 0 (Organometallic Compounds) RN - 6HG8UB2MUY (Meglumine) RN - EC 2.7.11.1 (PRKAG2 protein, human) RN - EC 2.7.11.31 (AMP-Activated Protein Kinases) RN - L0ND3981AG (gadoterate meglumine) SB - IM MH - AMP-Activated Protein Kinases/*genetics MH - Adolescent MH - Adult MH - Cardiomyopathy, Hypertrophic/enzymology/*genetics/*pathology/physiopathology MH - Contrast Media MH - DNA Mutational Analysis MH - Electrocardiography MH - Female MH - Fibrosis MH - Genetic Predisposition to Disease MH - Humans MH - Hypertrophy, Left Ventricular/enzymology/*genetics/*pathology/physiopathology MH - *Magnetic Resonance Imaging, Cine MH - Male MH - Meglumine MH - Middle Aged MH - *Mutation MH - Myocardium/*pathology MH - Organometallic Compounds MH - Phenotype MH - Predictive Value of Tests MH - Ventricular Function, Left MH - Ventricular Remodeling MH - Young Adult PMC - PMC4619453 EDAT- 2015/10/27 06:00 MHDA- 2016/07/09 06:00 PMCR- 2015/10/24 CRDT- 2015/10/27 06:00 PHST- 2015/08/17 00:00 [received] PHST- 2015/10/06 00:00 [accepted] PHST- 2015/10/27 06:00 [entrez] PHST- 2015/10/27 06:00 [pubmed] PHST- 2016/07/09 06:00 [medline] PHST- 2015/10/24 00:00 [pmc-release] AID - S1097-6647(23)00914-6 [pii] AID - 192 [pii] AID - 10.1186/s12968-015-0192-3 [doi] PST - epublish SO - J Cardiovasc Magn Reson. 2015 Oct 24;17:89. doi: 10.1186/s12968-015-0192-3.