The Authors Reply A physical examination, laboratory test and computed tomography scan revealed sensorineural hearing loss, cerebellum atrophy, exophoria and intellectual disability. There was no involvement of the eye, gastrointestinal tract, kidney, bone marrow or skin. Unfortunately, we did not perform a biopsy of any tissues other than the myocardium and so cannot compare the heteroplasmy r...

We evaluated the clinical significance of serum carnitine concentrations in determining the severity of impaired myocardial fatty acid metabolism in idiopathic hypertrophic cardiomyopathy (HCM). We studied 56 asymptomatic or mildly symptomatic patients with HCM. Serum levels of free carnitine and acylcarnitine were measured by the enzymic cycling method. Myocardial scintigraphy with (123)I-labe...

BACKGROUND Several studies have shown that long-term right ventricular (RV) overload in animal models alters myocardial energy substrate metabolism. However, whether long-term RV volume overload alters this metabolism in the human is unclear. METHODS AND RESULTS We performed positron emission tomography with [(18)F]fluorodeoxyglucose (FDG) and single-photon emission tomography (SPECT) with [(...

A 62-year-old man presented to our hospital with chest pain. The electrocardiogram revealed ST-segment elevation in leads V1 through V3. The transthoracic echocardiogram showed akinesia of the anteroseptal wall (Fig. 1a). The coronary angiogram (Fig. 1b, c) revealed no significant stenosis or occlusion in the coronary artery. However, the left ventriculogram showed severe hypokinesis of the mid...

A 33-year-old man was admitted for general malaise and vomiting. An electrocardiogram showed a complete atrioventricular block and an echocardiogram showed right atrial dilatation and normal wall motion of left ventricle (LV). Gene analysis showed nonsense mutation in the STA gene, which codes for emerin, and Emery-Dreifuss muscular dystrophy was diagnosed. An endomyocardial biopsy of right ven...

AIM The clustering of dyslipidemia, impaired glucose tolerance and hypertension increases the morbidity and mortality from cardiovascular events. A class B scavenger receptor, CD36, is a receptor for oxidized LDL and a transporter of long-chain fatty acids. Because of the impaired uptake of oxidized LDL in CD36-deficient macrophages and from the results of CD36 knockout mice, CD36 deficiency (C...