Mitral Valve Abnormalities Identified by Cardiovascular Magnetic Resonance Represent a Primary Phenotypic Expression of Hypertrophic Cardiomyopathy

Maron, Martin S.; Olivotto, Iacopo; Harrigan, Caitlin; Appelbaum, Evan; Gibson, C. Michael; Lesser, John R.; Haas, Tammy S.; Udelson, James E.; Manning, Warren J.; Maron, Barry J.

doi:10.1161/circulationaha.110.985812

Cited by 378 publications

(210 citation statements)

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“…42 Elongation of the mitral valve leaflets has been previously documented in gene-positive patients irrespective of LVH. 33 However, there have been no studies that have examined the variability in mitral valve leaflet lengths among the specific gene mutations. We have shown that there was no difference in both anterior and posterior mitral valve leaflet lengths between MYH7 and MYBPC3 gene mutations.…”

Section: Discussionmentioning

confidence: 99%

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Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy

Weissler‐Snir

Hindieh

Gruner

et al. 2017

Circ: Cardiovascular Imaging

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H ypertrophic cardiomyopathy (HCM) is the most commonly inherited monogenic cardiac disease with an estimated prevalence of 1:500.1 HCM is inherited as an autosomal dominant trait with a variable expression and age-related penetrance.2,3 In ≈35% to 60% of cases, HCM is caused by mutations in genes encoding sarcomere proteins. 4,5 To date, >1400 mutations in >13 genes have been identified, with the MYH7 (β-myosin heavy chain) and MYBPC3 (myosin-binding protein C) most commonly affected, accounting for >70% of genotyped families. 2,6See Editorial by Tower-Rader and Desai See Clinical PerspectiveAlthough thin-filament disease seems to have distinct phenotypic features in terms of left ventricular (LV) hypertrophy (LVH), cardiac magnetic resonance (CMR) late gadolinium enhancement (LGE) distribution, and diastolic abnormalities, 7 findings on the phenotypic differences between patients with MYH7 and MYBPC3 gene mutations have been inconsistent.Background-The 2 most commonly affected genes in hypertrophic cardiomyopathy (HCM) are MYH7 (β-myosin heavy chain) and MYBPC3 (β-myosin-binding protein C). Phenotypic differences between patients with mutations in these 2 genes have been inconsistent. Scarce data exist on the genotype-phenotype association as assessed by tomographic imaging using cardiac magnetic resonance imaging. Methods and Results-Cardiac magnetic resonance imaging was performed on 358 consecutive genotyped hypertrophic cardiomyopathy probands at 5 tertiary hypertrophic cardiomyopathy centers. Genetic testing revealed a pathogenic mutation in 159 patients (44.4%). The most common genes identified were MYH7 (n=53) and MYBPC3 (n=75); 33.1% and 47% of genopositive patients, respectively. Phenotypic characteristics by cardiac magnetic resonance imaging of these 2 groups were similar, including left ventricular volumes, mass, maximal wall thickness, morphology, left atrial volume, and mitral valve leaflet lengths (all P=non-significant). The presence of late gadolinium enhancement (65% versus 64%; P=0.99) and the proportion of total left ventricular mass (%late gadolinium enhancement; 10.4±13.2% versus 8.5±8.5%; P=0.44) were also similar. Conclusions-This multicenter multinational study shows lack of phenotypic differences between MYH7-and MYBPC3-associated hypertrophic cardiomyopathy when assessed by cardiac magnetic resonance imaging. Postmutational mechanisms appear more relevant to thick-filament disease expression and outcome than the disease-causing variant per se. (Circ Cardiovasc Imaging. 2017;10:e005311.

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Section: Discussionmentioning

confidence: 99%

“…Anterior mitral leaflet and posterior mitral leaflet lengths were measured in diastole in the 3-chamber view as described by Maron et al 33 …”

Section: Cmr Analysismentioning

confidence: 99%

Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy

Weissler‐Snir

Hindieh

Gruner

et al. 2017

Circ: Cardiovascular Imaging

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“…The method can be applied for follow-up since it is the most accurate method available today to follow changes in left ventricular size, mass and function, to determine left atrial size and function, and the severity of mitral regurgitation. The thickness of the mitral valve can also be defined [35,36] (fig. 2).…”

Section: Diagnostic Considerationsmentioning

confidence: 99%

Floppy Mitral Valve (FMV)/Mitral Valve Prolapse (MVP) and the FMV/MVP Syndrome: Pathophysiologic Mechanisms and Pathogenesis of Symptoms

Boudoulas¹,

Boudoulas

2013

Cardiology

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Mitral valve prolapse (MVP) results from the systolic movement of a portion or segments of the mitral valve leaflets into the left atrium during left ventricular systole. It is well appreciated today that floppy mitral valve (FMV) is the central issue in the MVP and mitral valve regurgitation (MVR) story. The term FMV refers to the expansion of the area of the mitral valve leaflets with elongated chordae tendineae, chordae rupture and mitral annular dilation. FMV/MVP occurs in a heterogeneous group of patients with a wide spectrum of mitral valve involvement from mild to severe. Two types of symptoms can be defined in FMV/MVP patients. In one group of patients, symptoms are directly related to progressive MVR. In the other group, symptoms cannot be explained by the degree of MVR alone; activation of the autonomic nervous system has been implicated for the explanation of symptoms in this group of patients which is referred to as the FMV/MVP syndrome. In this brief review, the natural history, pathophysiologic mechanisms and management of patients with FMV/MVP/MVR and FMV/MVP syndrome are discussed.

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“…Maron M.S. и коллеги на данных МР-исследований продемонс-трировали, что длина задней створки у пациентов с ГКМП значимо больше, чем у здоровых субъектов (14±4 против 10±3 мм, p<0,001) [32]. Некоторые ав-торы рекомендуют в качестве пограничного значения нормы длину задней створки 15 мм [23].…”

Section: в) избыточная длина задней створкиunclassified

Alcohol septal ablation: patient selection and rationality of its application

Kashtanov¹,

Chernyshev²,

Kardapoltsev³

et al. 2017

PKiK

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The article looks at some aspects of selecting patients with obstructive hypertrophic cardiomyopathy for alcohol septal ablation (ASA) procedure. Based on the world’s experience and in the context of evidence-based medicine, the current positions of ASA in complex treatment of obstructive hypertrophic cardiomyopathy are described. Received 29 September 2016. Accepted 9 January 2017.Funding: The study had no sponsorship.Conflict of interest: The authors declare no conflict of interest.Author contributionsData collection and analysis: Kashtanov M.G. Drafting the article: Kashtanov M.G. Critical revision: Kashtanov M.G., Idov E.M., Chernyshev S.D., Kardapoltsev L.V., Berdnikov S.V.

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Mitral Valve Abnormalities Identified by Cardiovascular Magnetic Resonance Represent a Primary Phenotypic Expression of Hypertrophic Cardiomyopathy

Cited by 378 publications

References 55 publications

Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy

Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy

Floppy Mitral Valve (FMV)/Mitral Valve Prolapse (MVP) and the FMV/MVP Syndrome: Pathophysiologic Mechanisms and Pathogenesis of Symptoms

Alcohol septal ablation: patient selection and rationality of its application

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