071 Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers

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Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†

AIMS Hypertrophic remodelling and systolic dysfunction are common in patients with mitochondrial disease and independent predictors of morbidity and early mortality. Screening strategies for cardiac disease are unclear. We investigated whether myocardial abnormalities could be identified in mitochondrial DNA mutation carriers without clinical cardiac involvement. METHODS AND RESULTS Cardiac m...

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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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Crypts predict the hypertrophic response in HCM mutation carriers

Objectives We BLOCKINused BLOCKINserial BLOCKINcardiovascular BLOCKINmagnetic BLOCKINresonance BLOCKINimaging BLOCKIN(CMR) BLOCKINin BLOCKINmutation BLOCKINcarriers to monitor LV mass, LV function, LV morphology and left atrial (LA) volumes to gain insight BLOCKINin BLOCKINthe BLOCKINnatural BLOCKINcourse BLOCKINof BLOCKINdevelopment BLOCKINof BLOCKINHCM.

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Point-mutation Detection of Mitochondrial Dna by Using Microfluidic System

Mitochondrial disorders are a group of complex and heterogeneous diseases that may be caused by molecular defects in mitochondrial genomes. Pathogenic mitochondrial DNA (mtDNA) mutations are usually present in the heteroplasmic form. The degree of mtDNA mutation heteroplasmy varies among different tissues. Thus, it is important to detect and quantify the degree of mutation heteroplasmy of mtDNA...

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Mitochondrial DNA, mitochondrial dysfunction, and cardiac manifestations.

Mitochondria, are the powerhouses of cells, have their own DNA (mtDNA), regulate the transport of metabolites and ions, and impact cell physiology, survival, and death. Mitochondrial dysfunction, including impaired oxidative phosphorylation, preferentially affects heart function due to an imbalance of energy supply and demand. Recently, mitochondrial mutations and associated mitochondrial dysfu...

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ژورنال

عنوان ژورنال: Heart

سال: 2012

ISSN: 1355-6037,1468-201X

DOI: 10.1136/heartjnl-2012-301877b.71