Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

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Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

BACKGROUND To evaluate the presence of myocardial structural alterations and subtle myocardial dysfunction during familial screening in asymptomatic mutation carriers without hypertrophic cardiomyopathy (HCM) phenotype. METHODS AND FINDINGS Sixteen HCM families with pathogenic mutation were studied and 46 patients with phenotype expression (Mut+/Phen+) and 47 patients without phenotype expres...

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Myocardial dysfunction in hypertrophic cardiomyopathy.

Cardiomyopathy To The Editor: We note with interest Nagueh et al’s1 recent observation that the reduction of tissue Doppler (TD) velocities in mitral annulus excursion was highly sensitive and specific for the detection of individuals carrying hypertrophic cardiomyopathy (HCM)–causing mutations in HCM families, even in the prehypertrophic phase. Any clinical tool that can reliably identify subt...

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Preclinical alterations in cardiac energetics amongst sarcomere mutation carriers in hypertrophic cardiomyopathy

Background Hypertrophic cardiomyopathy (HCM) is characterised by reduced myocardial tissue oxygenation (assessed using blood oxygen level dependent (BOLD) CMR imaging) during stress, as well as reduced myocardial perfusion reserve (MPRI) due to coronary microvascular dysfunction. In HCM gene carriers without the HCM phenotype, it has been suggested that only oxygenation is impaired. [1] It rema...

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Hypertrophic cardiomyopathy (HCM) is a disease state with characteristic pathologic changes most likely to result in abnormalities of diastolic function. Indeed, HCM may well be considered a “poster child” for diastolic dysfunction, because pronounced ventricular hypertrophy is associated with a reduced left ventricular (LV) cavity. The pressurevolume relationship would almost certainly be shif...

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ژورنال

عنوان ژورنال: PLoS ONE

سال: 2012

ISSN: 1932-6203

DOI: 10.1371/journal.pone.0036115