1/191. The syndrome of carnitine deficiency.Three cases of lipid storage myopathy and carnitine deficiency are presented. Two had a fatal course and were insensitive to cortisone and carnitine-replacement therapy. The two fatal cases had lipid accumulation in organs other than the skeletal muscles and carnitine was reduced in plasma, skeletal muscles, heart and liver. fibroblasts from one of these "generalized" cases of carnitine deficiency were grown from a skin biopsy. Carnitine level, fatty acids uptake and oxidation were not appreciably different between the patients' fibroblasts and those of controls.- - - - - - - - - - ranking = 1keywords = heart (Clic here for more details about this article) |
2/191. Myopathy in very-long-chain acyl-coa dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.A 30-year-old man suffered since the age of 13 years from exercise induced episodes of intense generalised muscle pain, weakness and myoglobinuria. fasting ketogenesis was low, while blood glucose remained normal. Muscle mitochondria failed to oxidise palmitoylcarnitine. Palmitoyl-CoA dehydrogenase was deficient in muscle and fibroblasts, consistent with deficiency of very-long-chain acyl-coa dehydrogenase (VLCAD). The gene of this enzyme had a homozygous deletion of three base pairs in exon 9, skipping lysine residue 238. fibroblasts oxidised myristate, palmitate and oleate at a rate of 129, 62 and 38% of controls. In contrast to patients with cardiac VLCAD deficiency, our patient had no lipid storage, a normal heart function, a higher rate of oleate oxidation in fibroblasts and normal free carnitine in plasma and fibroblasts. 31P-nuclear magnetic resonance spectroscopy of muscle showed a normal oxidative phosphorylation as assessed by phosphocreatine recovery, but a significant increase in pH and in Pi/ATP ratio.- - - - - - - - - - ranking = 10.127807207537keywords = cardiac, heart (Clic here for more details about this article) |
3/191. adolescent myopathic presentation in two sisters with very long-chain acyl-coa dehydrogenase deficiency.Two sisters were investigated at the ages of 20 and 13 years owing to persistently increased serum creatine kinase and recurrent episodes of rhabdomyolysis after emotional stress in the older and myalgias in the younger. The finding of increased levels of cis-5-tetradecenoic acid (C14:1) in plasma, severe hypocarnitinaemia and the absence of a pathological dicarboxylic aciduria in both sisters suggested a very long-chain acyl-coa dehydrogenase (VLCAD) deficiency. Reduced [1-(14)C]palmitate oxidation and deficient mitochondrial VLCAD activity in fibroblasts were found. mutation analysis revealed compound heterozygosity for Asp365His and Arg410His changes. This late-onset, milder clinical presentation differs from the other two more severe infantile phenotypes described, since there is no hypoglycaemia or cardiac disease. Fatty acid oxidation defects should be investigated in all cases with rhabdomyolysis beginning in adolescence or early adulthood.- - - - - - - - - - ranking = 1.8255614415073keywords = cardiac (Clic here for more details about this article) |
4/191. Familial skeletal myopathy with atrioventricular block.OBJECTIVE: We studied familial cases of skeletal myopathy with atrial fibrillation (Af) and atrioventricular (AV) block to compare the clinical features to other myopathies associated with cardiac abnormalities. methods: Neurologic, cardiologic, electrophysiologic, muscle pathology, and genetic studies were performed on the patients showing muscle weakness. patients: Four patients (a 63-year-old mother, 30 and 32-year-old sisters, and their maternal grandmother) and three healthy family members from three generations were studied. The mode of inheritance was suspected as autosomal dominant. RESULTS: Two sisters with congenital myopathy without rigid spine developed Af and AV block at the age of 28 and 18, respectively. The mother showed AV block, and underwent pacemaker implantation at the age of 63. The maternal grandmother had dilated cardiomyopathy, Af and severe lordosis. She died of stroke attacks and congestive heart failure at the age of 78. Muscle biopsy obtained from the mother and sisters showed myopathic changes without characteristic abnormalities. No mitochondrial dna mutations were found. Other inherited myopathies with cardiac complications were not suspected in this family. CONCLUSION: This Japanese family appears to belong to a new genetically heterogeneous group of autosomal dominant skeletal myopathy with severe AV block and Af.- - - - - - - - - - ranking = 4.6511228830146keywords = cardiac, heart (Clic here for more details about this article) |
5/191. Hypoglycemic coma masquerading thyrotoxic storm.A 59-year-old woman was hospitalized in hypoglycemic coma. Although hypoglycemia was promptly reversed, she was in a somnolent, restless state with tachycardia, tremor, profuse sweating, and high body temperature. Thyrotoxic storm was highly suspected and vigorous antithyroid regimens gradually brought her up to normal mental and cardiovascular states in several days. However, profound generalized myopathy necessitated the maintenance with a respirator. One month later, an episode of angina pectoris was followed by generalized convulsion, coma, and death in a few days. neuroimaging study disclosed posterior leukoencephalopathy syndrome. This case is instructive in that hypoglycemic coma may masquerade the major symptomatology of thyrotoxic storm, and that profound myopathy and angiopathic or angiospastic processes of the brain and the heart may interfere with the outcome.- - - - - - - - - - ranking = 1keywords = heart (Clic here for more details about this article) |
6/191. Acute myopathy of intensive care in a child after heart transplantation.PURPOSE: Acute myopathy of intensive care has been described infrequently in children and never after organ transplantation. We report a case of acute myopathy of intensive care in a child after heart transplantation. CLINICAL FEATURES: An 11-yr-old girl, with no previous medical history, developed acute cardiomyopathy leading to cardiac shock. family history revealed four cases of unidentified myopathy and/or cardiomyopathy. Preoperatively, while muscle biopsy was near normal, myocardial biopsy revealed non specific mitochondrial disorders. A few days after heart transplantation, she developed acute hypotonia and flaccid quadriplegia, consistent with the diagnosis of acute myopathy of intensive care. Nerve conduction studies were normal, electromyography showed myopathic changes and a new muscle biopsy from quadriceps femoris showed severe loss of myosin filaments and ATPase activity in type 2 fibres. A large laboratory screening failed to demonstrate a metabolic disease or a known myopathy. muscle strength recovered progressively in three weeks allowing home discharge. A few months later, she was free of symptoms and muscle biopsy showed full histopathological recovery. CONCLUSION: Acute myopathy of intensive care can occur in children after heart transplantation. It should be suspected in the presence of muscle weakness and difficulty in weaning from ventilatory support. electromyography confirmed a myogenic process and muscle biopsy allowed diagnosis. Full clinical and histopathological recovery usually occur within three weeks.- - - - - - - - - - ranking = 8.8255614415073keywords = cardiac, heart (Clic here for more details about this article) |
7/191. Interferon treatment for dilated cardiomyopathy and striated myopathy associated with hepatitis c virus infection based on serial measurements of serum concentrations of cardiac troponin t.The present authors recently suggested, on the basis of studies using polymerase chain reaction (PCR), that hepatitis c virus (HCV) infection is involved in the etiology or pathogenesis of cardiomyopathic disorders. They have also reported that the serum concentration of cardiac troponin t is an indicator of ongoing myocyte degeneration in patients with dilated cardiomyopathy (DCM) and hypothesized that its serial measurement may be a marker of therapeutic efficacy. This is the first case report of DCM and striated myopathy, associated with HCV infection, treated with interferon therapy guided by monitoring of serial serum concentrations of cardiac troponin t. Positive-plus strands of HCV rna were found in the patient's myocardium, as well as plus and minus strands in the quadriceps muscle specimens. serum levels of creatine kinase (CK), CK-MB and cardiac troponin t fell as serum HCV titers decreased during treatment with interferon, whereas conventional treatment of heart failure had no effect. Monitoring of serial serum concentrations of cardiac troponin t may allow the earlier diagnosis and treatment of patients with HCV-associated cardiomyopathy and improve their clinical course.- - - - - - - - - - ranking = 15.604491532059keywords = cardiac, heart (Clic here for more details about this article) |
8/191. Minicore myopathy in children: a clinical and histopathological study of 19 cases.Minicore myopathy is a congenital myopathy characterized by multifocal areas of degeneration in muscle fibres. genetic heterogeneity expected on the basis of clinical variability awaits further resolution. We reviewed 19 cases in order to further delineate the phenotype. Marked hypotonia was the predominant presenting feature, with evidence of antenatal onset in 30% of cases. Weakness was most pronounced axially and proximally, often more severely affecting the shoulder girdle. Mild facial involvement was frequent. Varying degrees of scoliosis were obvious in all patients older than 10 years. In addition, two patients who were also the most severely affected had complete external ophthalmoplegia. One patient showed marked distal involvement. Respiratory failure developed in half of all patients after 10 years of age and correlated strongly with the degree of scoliosis. Cardiac involvement occurred mainly secondary to respiratory impairment. The course appeared static in most cases. Loss of independent walking was observed only in one case at the age of 10 years. On ultrasound scan, differential involvement within the quadriceps was documented in several patients. Variability in fibre size, type 1 predominance and atrophy with occasional type 2 hypertrophy were prominent but nonspecific histological changes. Apart from typical minicores, a marked increase in internal nuclei was the most prominent histological feature. With the exception of one family in which two generations were affected, inheritance appeared autosomal-recessive or sporadic in all cases.- - - - - - - - - - ranking = 266.73980567175keywords = hypertrophy (Clic here for more details about this article) |
9/191. Diaphragmatic cramp as a possible cause of noncardiac chest pain and referred mandibular pain.The initial assumption that sudden acute chest pain may be of cardiac origin is justifiable, but when this proves not to be the case the patient is left with little explanation of the cause. It is suggested here that diaphragmatic cramp may be a cause of some undiagnosed noncardiac chest pains associated with mandibular referred pain. The phrenic nerve provides both motor and sensory innervation to the diaphragm, while the trigeminal nerve carries sensation from the mandibular teeth. Both nerves originate in separate nuclei close together in the lower medulla. Interconnections between these nuclei and others higher up in the brain may provide one explanation for this problem.- - - - - - - - - - ranking = 10.953368649044keywords = cardiac (Clic here for more details about this article) |
10/191. Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.desmin myopathy is a familial or sporadic disorder characterized by intracytoplasmic accumulation of desmin in the muscle cells. We and others have previously identified desmin gene mutations in patients with familial myopathy, but close to 45% of the patients do not report previous family history of the disease. The present study was conducted to determine the cause of desmin myopathy in a sporadic patient presenting with symmetrical muscle weakness and atrophy combined with atrioventricular conduction block requiring a permanent pacemaker. A novel heterozygous R406W mutation in the desmin gene was identified by sequencing cDNA and genomic dna. Expression of a construct containing the patient's mutant desmin cDNA in SW13 (vim-) cells demonstrated a high pathogenic potential of the R406W mutation. This mutation was not found in the patient's father, mother or sister by sequencing and restriction analysis. Testing with five microsatellite markers and four intragenic single nucleotide polymorphisms excluded alternative paternity. Haplotype analysis indicates that the patient's father was germ-line mosaic for the desmin mutation. We conclude that de novo mutations in the desmin gene may be the cause of sporadic forms of desmin-related cardiac and skeletal myopathy.- - - - - - - - - - ranking = 9.1278072075366keywords = cardiac (Clic here for more details about this article) |
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