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. 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.

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 A.; Hindieh W.; Gruner C.; Fourey D.; Appelbaum E.; Rowin E.; Care M.; Lesser J.R.; Haas T.S.; Udelson J.E.; Manning W.J.; Olivotto I.; Tomberli B.; Maron B.J.; Maron M.S.; Crean A.M.; Rakowski H.; Chan R.H.. - In: CIRCULATION. CARDIOVASCULAR IMAGING. - ISSN 1941-9651. - ELETTRONICO. - 10:(2017), pp. 0-0. [10.1161/CIRCIMAGING.116.005311]

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

Olivotto I.;Tomberli B.;
2017

Abstract

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. 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.
2017
10
0
0
Weissler-Snir A.; Hindieh W.; Gruner C.; Fourey D.; Appelbaum E.; Rowin E.; Care M.; Lesser J.R.; Haas T.S.; Udelson J.E.; Manning W.J.; Olivotto I.; Tomberli B.; Maron B.J.; Maron M.S.; Crean A.M.; Rakowski H.; Chan R.H.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1181110
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