ArticleHeart (British Cardiac Society)2005
Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I.
Article in Heart (British Cardiac Society), 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 97 citations in OpenAlex.
- Cardiac magnetic resonance and genetics in pediatric heart failure patients with nonischemia: prognostic implications.World journal of pediatrics : WJP · 2025Article
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- Article
- A case report: Twin sisters with restrictive cardiomyopathy associated with rare mutations in the cardiac troponin I gene.Journal of cardiology cases · 2021Article
- Progression of myocardial fibrosis in hypertrophic cardiomyopathy: mechanisms and clinical implications.European heart journal. Cardiovascular Imaging · 2019Article
- The Role of Cardiovascular Magnetic Resonance in Sports Cardiology; Current Utility and Future Perspectives.Current treatment options in cardiovascular medicine · 2018Review
- Delayed Myocardial Enhancement in Pediatric Hypertrophic Cardiomyopathy: Correlation with LV Function, Echocardiography, and Demographic Parameters.Pediatric cardiology · 2017Article
- Cardiac MRI: a central prognostic tool in myocardial fibrosis.Nature reviews. Cardiology · 2015Review
- Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.BioMed research international · 2015Article
- Predictive value of myocardial delayed enhancement in Duchenne muscular dystrophy.Pediatric cardiology · 2014Article
- Myocardial extracellular volume fraction from T1 measurements in healthy volunteers and mice: relationship to aging and cardiac dimensions.JACC. Cardiovascular imaging · 2013Article
- Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.Circulation. Cardiovascular genetics · 2013Article
- T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.Circulation. Cardiovascular imaging · 2013Article
- The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2012Review
- Prediction of sudden cardiac death: next steps in pursuit of effective methodology.Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing · 2011Review
- Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2011Article
- New Paradigms in Hypertrophic Cardiomyopathy: Insights from Genetics.Progress in pediatric cardiology · 2011Article
- Midregional pro-atrial natriuretic peptide: a novel marker of myocardial fibrosis in patients with hypertrophic cardiomyopathy.The international journal of cardiovascular imaging · 2011Article
- Cardiac magnetic resonance in hypertrophic cardiomyopathy.Current cardiology reports · 2011Article
- Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy.The New England journal of medicine · 2010Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo examine the influence of genotype on late gadolinium enhancement (LGE) and the potential of cardiovascular magnetic resonance (CMR) to detect preclinical hypertrophic cardiomyopathy.
designProspective, blinded cohort study of myocardial LGE in a genetically homogeneous population. PATIENTS: 30 patients with disease causing mutations in the recognised hypertrophic cardiomyopathy gene for cardiac troponin I (TNNI3): 15 with echocardiographically determined left ventricular hypertrophy (LVH+) and 15 without (LVH-).
main outcome measuresCMR measures of regional left ventricular function, wall thickness, and mass, and the extent and distribution of LGE.
resultsLGE was found in 12 (80%) LVH+ patients but with variable extent (mean 15%, range 3-48%). LGE was also found in two (13%) LVH- patients but the extent was limited (3.6%) and both patients were found to have an abnormal ECG and regional hypertrophy by cine CMR. The extent of LGE was positively associated with clinical markers of sudden death risk (21% with > or = 2 risk factors v 7% with < or = 1 risk factor, p = 0.02) and left ventricular mass (r = 0.56, p < 0.001) and was inversely associated with ejection fraction (r = -0.58, p < 0.001). Segmental analysis showed that as regional wall thickness increased, LGE was more prevalent (p < 0.0001) and more extensive (r = 0.98, p = 0.001).
conclusionIn patients with disease causing mutations in TNNI3, focal fibrosis was not detected by LGE CMR before LVH and ECG abnormalities were present. Once LVH is present, LGE is common and the extent correlates with adverse clinical parameters. This suggests that focal fibrosis is closely linked to disease development.
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