Ryuichiro Anan

Cardiac involvement in mitochondrial diseases : A study on 17 patients with documented mitochondrial DNA defects

BACKGROUND Mutations of mitochondrial DNA have been demonstrated as causes of human mitochondrial diseases. While these disorders typically involve multiple organs, the effect of mitochondrial mutations on the heart has not been systematically studied. METHODS AND RESULTS We studied mitochondrial mutations and cardiac changes in 17 patients with Kearns-Sayre syndrome; ocular myopathy; myoclonus epilepsy with ragged red fibers (MERRF); and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Cardiac involvement was evaluated by chest radiograph, ECG, His-bundle electrogram, and echocardiogram. All 3 patients with Kearns-Sayre syndrome had large deletions of mitochondrial DNA and disturbances in cardiac conduction. ECG abnormalities were found in 2 of 6 patients with ocular myopathy who showed large deletions of mitochondrial DNA. All 3 patients with MERRF had an A-to-G mutation at nucleotide position 8344; 2 had cardiomegaly, asymmetrical septal hypertrophy, and diffuse hypokinesis of the left ventricle. One patient with asymmetrical septal hypertrophy developed dilated cardiomyopathy 2 years later. All 5 patients with MELAS had an A-to-G mutation at nucleotide position 3243, and 2 had symmetrical left ventricular hypertrophy with or without abnormal wall motion. CONCLUSIONS The clinical features of cardiac involvement in mitochondrial diseases vary in the different subgroups of these disorders. Particular mitochondrial mutations can cause characteristic cardiac abnormalities.

A De Novo Mutation in α-Tropomyosin That Causes Hypertrophic Cardiomyopathy

Background Two missense mutations in the gene for α-tropomyosin have been described that segregate with hypertrophic cardiomyopathy in single families. To confirm that these mutations are the cause of the disease, we have investigated the origins of one of these mutations, Asp175Asn, in a third and unrelated family. Methods and Results The presence or absence of an α-tropomyosin mutation and the haplotypes of the flanking chromosomal regions were determined for members of a family with hypertrophic cardiomyopathy. Haplotypes were constructed by use of an intragenic polymorphism and 10 flanking polymorphisms spanning a region of 35 centimorgans. The Asp175Asn missense mutation was present in the proband and his two affected offspring but not in any of the proband’s three siblings. Although both parents were deceased, the haplotypes of the four parental chromosomes could be reconstructed. One parental chromosome was transmitted to two offspring: one bearing the Asp175Asn mutation (the affected proband) and ...

Intracardiac thrombus, superior vena cava syndrome, and pulmonary embolism in a patient with Behçet's disease: a case report and literature review

A 26-year-old woman with intermittent fever was admitted to our hospital, and gradually developed facial edema. Examinations including computed tomography, transesophageal echocardiography, digital subtraction angiography, and pulmonary perfusion scintigraphy revealed intracardiac thrombus, superior vena cava syndrome, and pulmonary embolism. Clinical findings and laboratory data led us to make a diagnosis of Behçets disease. Combination of intracardiac thrombus, superior vena cava syndrome, and pulmonary embolism are rare complications in Behçets disease. Behçets disease should be considered in the differential diagnosis of intracardiac mass of the right heart, and early diagnosis and treatment are essential for the management of Behçets disease especially with large-vessel manifestations. In addition to a case report, we review the literature and report the characteristics of intracardiac thrombus in Behçets disease.