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Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers

To evaluate the presence of myocardial structural alterations and subtle myocardial dysfunction during familial screening in asymptomatic mutation carriers without hypertrophic cardiomyopathy (HCM) phenotype. Sixteen HCM families with pathogenic mutation were studied and 46 patients with phenotype e...

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Published in:PloS one 2012-05, Vol.7 (5), p.e36115-e36115
Main Authors: Yiu, Kai Hang, Atsma, Douwe E, Delgado, Victoria, Ng, Arnold C T, Witkowski, Tomasz G, Ewe, See Hooi, Auger, Dominique, Holman, Eduard R, van Mil, Anneke M, Breuning, Martijn H, Tse, Hung Fat, Bax, Jeroen J, Schalij, Martin J, Marsan, Nina Ajmone
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Language:English
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Summary:To evaluate the presence of myocardial structural alterations and subtle myocardial dysfunction during familial screening in asymptomatic mutation carriers without hypertrophic cardiomyopathy (HCM) phenotype. Sixteen HCM families with pathogenic mutation were studied and 46 patients with phenotype expression (Mut+/Phen+) and 47 patients without phenotype expression (Mut+/Phen-) were observed. Twenty-five control subjects, matched with the Mut+/Phen- group, were recruited for comparison. Echocardiography was performed to evaluate conventional parameters, myocardial structural alteration by calibrated integrated backscatter (cIBS) and global and segmental longitudinal strain by speckle tracking analysis. All 3 groups had similar left ventricular dimensions and ejection fraction. Basal anteroseptal cIBS was the highest in Mut+/Phen+ patients (-14.0±4.6 dB, p
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0036115