• Gabriella Captur, Luis R Lopes, Timothy J Mohun, Vimal Patel, Chunming Li, Paul Bassett, Gherardo Finocchiaro, Vanessa M Ferreira, Maite Tome Esteban, Vivek Muthurangu, Mark V Sherrid, Sharlene M Day, Charles E Canter, William J McKenna, Christine E Seidman, David A Bluemke, Perry M Elliott, Carolyn Y Ho, and James C Moon.
• From the Department of Cardiovascular Science (G.C., L.R.L., V.P., V.M., W.J.M., P.M.E., J.C.M.) and Biostatistics Joint Research Office (P.B.), University College London, London, United Kingdom; Department of Inherited Cardiovascular Diseases (G.C., L.R.L., V.P., M.T.E., W.J.M., P.M.E., J.C.M.) and Cardiac Imaging Department (G.C., G.F., M.T.E., W.J.M., J.C.M.), Barts Heart Centre, London, United Kingdom; Department of Developmental Biology, MRC National Institutes for Medical Research, Mill Hill, United Kingdom (T.J.M.); Department of Radiology, University of Pennsylvania, Philadelphia (C.L.); Division of Cardiovascular Medicine, Radcliffe Department of Medicine, John Radcliffe Hospital, University of Oxford Center for Clinical Magnetic Resonance Research (OCMR), Oxford, United Kingdom (V.M.F.); UCL Department for Cardiovascular Imaging, Great Ormond Street Hospital for Children, London, United Kingdom (V.M.); Department of Cardiology, Mount Sinai Roosevelt Hospital, Icahn School of Medicine at Mount Sinai, New York, NY (M.V.S.); Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor (S.M.D.); Pediatric Cardiology Department, Washington University School of Medicine, St Louis, MO (C.E.C.); Department of Genetics, Harvard Medical School, Boston, MA (C.E.S.); Radiology and Imaging Sciences Department, National Institutes of Health/Clinical Center, Bethesda, MD (D.A.B.); and Cardiovascular Department, Brigham and Women's Hospital, Boston, MA (C.Y.H.).
• Circ Cardiovasc Imaging. 2014 Nov 1; 7 (6): 863-71.

BackgroundSarcomere protein mutations in hypertrophic cardiomyopathy induce subtle cardiac structural changes before the development of left ventricular hypertrophy (LVH). We have proposed that myocardial crypts are part of this phenotype and independently associated with the presence of sarcomere gene mutations. We tested this hypothesis in genetic hypertrophic cardiomyopathy pre-LVH (genotype positive, LVH negative [G+LVH-]).Methods And ResultsA multicenter case-control study investigated crypts and 22 other cardiovascular magnetic resonance parameters in subclinical hypertrophic cardiomyopathy to determine their strength of association with sarcomere gene mutation carriage. The G+LVH- sample (n=73) was 29 ± 13 years old and 51% were men. Crypts were related to the presence of sarcomere mutations (for ≥1 crypt, β=2.5; 95% confidence interval [CI], 0.5-4.4; P=0.014 and for ≥2 crypts, β=3.0; 95% CI, 0.8-7.9; P=0.004). In combination with 3 other parameters: anterior mitral valve leaflet elongation (β=2.1; 95% CI, 1.7-3.1; P<0.001), abnormal LV apical trabeculae (β=1.6; 95% CI, 0.8-2.5; P<0.001), and smaller LV end-systolic volumes (β=1.4; 95% CI, 0.5-2.3; P=0.001), multiple crypts indicated the presence of sarcomere gene mutations with 80% accuracy and an area under the curve of 0.85 (95% CI, 0.8-0.9). In this G+LVH- population, cardiac myosin-binding protein C mutation carriers had twice the prevalence of crypts when compared with the other combined mutations (47 versus 23%; odds ratio, 2.9; 95% CI, 1.1-7.9; P=0.045).ConclusionsThe subclinical hypertrophic cardiomyopathy phenotype measured by cardiovascular magnetic resonance in a multicenter environment and consisting of crypts (particularly multiple), anterior mitral valve leaflet elongation, abnormal trabeculae, and smaller LV systolic cavity is indicative of the presence of sarcomere gene mutations and highlights the need for further study.© 2014 American Heart Association, Inc.

34 keywords...

hide…