ArticleCirculation. Cardiovascular imaging2014
Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy.
Abstract readMulticenter Study
In one paragraph
Article in Circulation. Cardiovascular imaging, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
54 citing papers in PubMed.
- Fractal dimension of the aortic annulus: a novel predictor of paravalvular leak after transcatheter aortic valve implantation.The international journal of cardiovascular imaging · 2022Trial
- Exploring Morphologic and Functional Variants in Hypertrophic Cardiomyopathy: An Echocardiographic and Doppler Review.Diagnostics (Basel, Switzerland) · 2025Review
- The Role of Cardiovascular Magnetic Resonance Imaging in Athletic Individuals-A Narrative Review.Journal of clinical medicine · 2025Review
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- Evaluation of potential links between phenotypic features and genetic variants in left ventricular outflow tract obstruction in hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging.The international journal of cardiovascular imaging · 2024Article
- Reassessing the unifying hypothesis for hypercontractility caused by myosin mutations in hypertrophic cardiomyopathy.The EMBO journal · 2024Review
- Prognostic value of right ventricular trabecular complexity in patients with arrhythmogenic cardiomyopathy.European radiology · 2024Article
- Article
- MYH7 mutation is associated with mitral valve leaflet elongation in patients with obstructive hypertrophic cardiomyopathy.Heliyon · 2024Article
- Prevalence of Left Ventricular Myocardial Crypts in Japanese Patients.Internal medicine (Tokyo, Japan) · 2024Article
- Review
- Cardiac risk and myocardial fibrosis assessment with cardiac magnetic resonance in patients with myotonic dystrophy.Frontiers in neurology · 2024Article
- Cardiovascular magnetic resonance insights into anomalies of the mitral valve apparatus in Fabry cardiomyopathy and hypertrophic cardiomyopathy.Frontiers in cardiovascular medicine · 2024Article
- From amoeboid myosin to unique targeted medicines for a genetic cardiac disease.Frontiers in physiology · 2024Review
- Systolic anterior motion of the anterior mitral valve leaflet begins in subclinical hypertrophic cardiomyopathy.European heart journal. Cardiovascular Imaging · 2023Article
- Evaluation of myocardial strain in patients with subclinical hypertrophic cardiomyopathy and subclinical Hypertensive Heart Disease using Cardiac magnetic resonance feature tracking.The international journal of cardiovascular imaging · 2023Article
- Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy.Scientific reports · 2023Article
- Cardiac Magnetic Resonance in HCM Phenocopies: From Diagnosis to Risk Stratification and Therapeutic Management.Journal of clinical medicine · 2023Review
- Hypertensive Heart Disease-The Imaging Perspective.Journal of clinical medicine · 2023Review
- Role of Imaging in Cardiomyopathies.Cardiac failure review · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors.
Gabriella CapturFrom 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.).
Luis R LopesFrom 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.).
Timothy J MohunFrom 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.).
Vimal PatelFrom 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.).
Chunming LiFrom 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.).
Paul BassettFrom 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.).
Gherardo FinocchiaroFrom 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.).
Vanessa M FerreiraFrom 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.).
Maite Tome EstebanFrom 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.).
Vivek MuthuranguFrom 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.).
Mark V SherridFrom 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.).
Sharlene M DayFrom 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.).
Charles E CanterFrom 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.).
William J McKennaFrom 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.).
Christine E SeidmanFrom 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.).
David A BluemkeFrom 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.).
Perry M ElliottFrom 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.).
Carolyn Y HoFrom 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.).
James C MoonFrom 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.). j.moon@ucl.ac.uk.
Funding
Molecular Biomedical Imaging Laboratory (NIBIB)ZIAEB000072 · NIBIB · NATIONAL INSTITUTE OF BIOMEDICAL IMAGING AND BIOENGINEERING · PI BLUEMKE, DAVID · 2010 to 2017
$5.0MMolecular Biomedical Imaging Laboratory (CC)ZIACL090019 · CLC · CLINICAL CENTER · PI JONES, ELIZABETH C. · 2010 to 2017
$0kBritish Heart Foundation FS/08/012/24454British Heart Foundation PG/10/76/28545British Heart Foundation PG/11/98/29201Intramural NIH HHS ZIA CL090019Intramural NIH HHS ZIA EB000072Medical Research Council MC_U117562103
Abstract
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.
Indexed as
MutationSarcomeresAdolescentAdultAsymptomatic DiseasesCardiomyopathy, HypertrophicCase-Control StudiesChi-Square DistributionDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseGenetic TestingHeart VentriclesHumansLogistic ModelsLondonMuscle Proteinscardiomyopathy, hypertrophicgeneticsmagnetic resonance imaging
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