Cardiogenetics, Volume 3, Issue 1

Rare diseases are a heterogeneous group of conditions including genetic syndromes, inherited metabolic diseases, and neuromuscular disorders with various expression and different organ involvement. [...]

The heart may be involved in a number of systemic syndromes. The pericardium, myocardium, heart valves, and coronary arteries may be involved either singly or in various combinations. In most cases the cardiac manifestations are not the dominant feat...

Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life. In...

Cholesterol deposition plays a central role in atherogenesis. The accumulation of lipid material is the result of an imbalance between the influx and efflux of cholesterol within the arterial wall. High levels of plasma low-density lipoprotein-choles...

Knowledge on the molecular background of mitochondrial disorders has accumulated during the past two decades, but clinical and molecular features of mitochondrial cardiomyopathies (CMPs) are only starting to be characterized. We studied the detailed...

Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The genetic defect leads to progressive intracellular accumulation of Gl3 in various tissues, including heart, kidney, vascular endothelium and the ne...

Tissue Doppler and deformation imaging, including Doppler-derived strain and speckle tracking, have significantly improved our understanding of cardiac mechanics in both physiological and pathological states. The various modes of left ventricular def...

Accentuated J waves have been associated with idiopathic ventricular tachycardia and fibrillation (VT/VF) for nearly three decades. Prominent J waves characterize both Brugada and early repolarization syndromes leading to their designation as J wave...

There is a need to evidence the cost of genetic testing and know their profitability in order to establish criteria for priorizing access to genetic testing for these diseases. We determinated the cost per positive genotyping in 234 index cases with...

LMNA mutations are amongst the most important causes of familial dilated cardiomyopathy. The most important cause of arrhythmogenic right ventricular cardiomyopathy (ARVC) is desmosomal pathology. The aim of the study was to elucidate the role of LMN...