Deficiencies in the activity of cytochrome c oxidase (COX), the terminal enzyme in the respiratory chain, are a frequent cause of autosomal recessive mitochondrial disease in infants. These patients are clinically and genetically heterogeneous, and all defects so far identified in this group have been found in genes coding for accessory proteins that play important roles in the assembly of the ...

There are few reports concerning interferon induced myocardial dysfunction. A known case of multiple myeloma who was receiving interferon alpha (IFA) for 14 months was brought to the emergency room in frank: pulmonary edema. After treatment of heart failure and discontinuation of interferon alpha, he remained asymptomatic thereafter. Another case of chronic active hepatitis on IFA complain...

background: dilated cardiomyopathy is associated with a progressive deterioration in cardiac function and eventually death. initial interest in this hypothesis was to create another large animal model for dilated cardiomyopathy in addition to pigs and dogs . methods: after the induction of anesthesia to 10 female sheep, a carotid-jugular shunt was created in all the animals via a 1-cm fistula b...

Abstract This case refers to a 69–year–old woman with history of hypertrophic cardiomyopathy (HCM) severe mid–ventricular obstruction complicated by apical aneurysm and restrictive phenotype. patient had no left ventricular outflow tract previous examinations showed moderate mitral regurgitation (MR) suboptimal echocardiographic follow–up. ICD was previously implanted for primary prevention. Di...

left ventricular non-compaction cardiomyopathy is a rare congenital cardiomyopathy that affects both children and adults. since the clinical manifestations are not sufficient to establish diagnosis, echocardiography is the diagnostic tool that makes it possible to document ventricular non-compaction and establish prognostic factors. we report a 47-year-old woman with a history of dilated cardio...

Introduction: Cardiac transthyretin (ATTR) amyloidosis is a progressive and fatal infiltrative cardiomyopathy (ATTR-CM) characterized by congestive cardiac failure, often with preserved left ventricular ejection fraction, significant risk of conduction disease. Diagnosis delayed or missed due to poor specificity echocardiography the historical requirement for histological diagnosis, frequently ...

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, which is caused by a multitude of mutations in genes encoding proteins of the cardiac sarcomere (1). Apical hypertrophic cardiomyopathy (AHCM) is an uncommon type of HCM. The sudden cardiac death is less likely to occur in the patients inflicted with AHCM (2). Herein, we presented the case of a 29-year-old man ...