ArticleEuropean heart journal. Cardiovascular Imaging2018
Intrinsic mitral valve alterations in hypertrophic cardiomyopathy sarcomere mutation carriers.
Article in European heart journal. Cardiovascular Imaging, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The molecular and cellular landscape of hypertrophic cardiomyopathy phenotypes: transition from obstructive to end-stage heart failure.Journal of molecular medicine (Berlin, Germany) · 2025Pooled it
- Phenotypic Spectrum of Subclinical Sarcomere-Related Hypertrophic Cardiomyopathy and Transition to Overt Disease.Circulation. Genomic and precision medicine · 2024Pooled it
- Echocardiographic evaluation of aortic root size in cats with hypertrophic cardiomyopathy.The Journal of veterinary medical science · 2026Article
- Three-dimensional echocardiography-derived myocardial mechanistic insights into obstructive hypertrophic cardiomyopathy with moderate septal hypertrophy.BMC medical imaging · 2026Article
- Mitral Valve Abnormalities as Predictors of Procedural Success in Alcohol Septal Ablation: A Pilot Study.Journal of clinical medicine · 2026Article
- Exploring Morphologic and Functional Variants in Hypertrophic Cardiomyopathy: An Echocardiographic and Doppler Review.Diagnostics (Basel, Switzerland) · 2025Review
- Hypertrophic Cardiomyopathy: Current Perspectives.Reviews in cardiovascular medicine · 2025Review
- The Evolving Role of Cardiac Imaging in Hypertrophic Cardiomyopathy: Diagnosis, Prognosis, and Clinical Practice.Biomedicines · 2025Review
- Hypertrophic cardiomyopathy.Nature reviews. Disease primers · 2025Review
- Mitral regurgitation in patients with hypertrophic cardiomyopathy: a case series.European heart journal. Case reports · 2025Article
- Assessment of myocardial work in sarcomere gene mutation carriers, healthy controls and overt nonobstructive hypertrophic cardiomyopathy.Echo research and practice · 2025Article
- Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice.European heart journal · 2024Review
- MYH7 mutation is associated with mitral valve leaflet elongation in patients with obstructive hypertrophic cardiomyopathy.Heliyon · 2024Article
- Mitral regurgitation mechanisms related to systolic anterior motion in hypertrophic cardiomyopathy.Journal of thoracic disease · 2024Article
- Mexican guidelines 2024 for the diagnosis and treatment of hypertrophic cardiomyopathy.Archivos de cardiologia de Mexico · 2024Article
- Valvular heart disease and cardiomyopathy: reappraisal of their interplay.Nature reviews. Cardiology · 2024Review
- Cardiovascular magnetic resonance insights into anomalies of the mitral valve apparatus in Fabry cardiomyopathy and hypertrophic cardiomyopathy.Frontiers in cardiovascular medicine · 2024Article
- Systolic anterior motion of the anterior mitral valve leaflet begins in subclinical hypertrophic cardiomyopathy.European heart journal. Cardiovascular Imaging · 2023Article
- Septal Myectomy Outcomes in Children and Adolescents With Obstructive Hypertrophic Cardiomyopathy.The Annals of thoracic surgery · 2023Article
- Histopathology of the Mitral Valve Residual Leaflet in Obstructive Hypertrophic Cardiomyopathy.JACC. Advances · 2023Article
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Abstract
Aims: Mitral valve (MV) abnormalities are recognized features of hypertrophic cardiomyopathy (HCM), and there is preliminary evidence suggesting they are intrinsic phenotypic manifestations of sarcomere mutations, present in mutation carriers without left ventricular (LV) hypertrophy (subclinical HCM). However, further study is required to characterize the nature of these changes and their functional impact. Thus, we performed comprehensive echocardiographic analysis of MV structure and function on a genotyped population. Methods and results: MV and papillary muscle echocardiographic parameters were measured in 192 genotyped individuals, including 50 overt HCM, 79 subclinical HCM, and 63 mutation-negative, healthy relatives as normal controls. Compared to controls, subclinical HCM subjects had elongated anterior MV leaflets relative to LV end-diastolic volume index (0.57 ± 0.02 vs. 0.51 ± 0.02 mm/mL/m2, P = 0.013) and anteriorly displaced papillary muscles [decreased papillary-septal separation (31.1 ± 0.7 vs. 34.2 ± 0.9 mm, P = 0.004) and relative antero-posterior position ratio of the papillary muscles (0.67 ± 0.01 vs. 0.71 ± 0.01, P = 0.011]. Similar findings were identified comparing overt HCM to controls. These MV changes were associated with an increased prevalence of systolic anterior motion (SAM) of the MV amongst subclinical HCM subjects. Conclusions: Sarcomere mutations are associated with primary abnormalities of the MV apparatus, specifically excess anterior leaflet length relative to LV cavity size and anterior displacement of the papillary muscles; both features predisposing to SAM. These abnormalities appear to be early phenotypic consequences of sarcomere mutations, observed in mutation carriers with normal LV wall thickness.
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