Objectives: We investigated cardiac energetics in subjects with mutations in three different
familial hypertrophic cardiomyopathy (HCM) disease genes, some of whom were …

Friedreich's ataxia (FA) is the most common form of autosomal recessive spinocerebellar
ataxia and is often associated with a cardiomyopathy. The disease is caused by an …

Background Decreased mitochondrial respiratory chain function and increased oxidative
stress have been implicated in the pathogenesis of Friedreich ataxia (FRDA), raising the …

OBJECTIVES Our aim was to measure the cardiac phosphocreatine to adenosine
triphosphate ratio (PCr/ATP) noninvasively in patients and carriers of Xp21 muscular …

Background: Chronic heart failure (CHF) is associated with abnormalities of skeletal muscle
metabolism. This may be due to impaired oxygen delivery as a result of endothelial …

Cardiomyopathy is a frequent cause of morbidity and mortality in patients carrying the
A3243G transition in the mitochondrial DNA (mtDNA) tRNALeu (UUR) gene, the most …

Background: The Marfan syndrome is an inherited multisystem disorder caused by
mutations in fibrillin 1, with cardiovascular involvement being the most important feature of …

Introduction Coronary artery fistulae are rare abnormal congenital communications between
a coronary artery and a cardiac chamber or great vessel. The majority of adult patients are …

Introduction There is debate about the diagnostic profile of the heart failure population.
Diagnostic criteria for heart failure with reduced ejection fraction (HFREF) are variable and …

Introduction Chest pain is a common presentation to the ED. Differentiating those with an
Acute Coronary Syndrome from the majority without, within 4 hours, is a priority. Introduction …