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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two brothers had nonobstructive hypertrophic cardiomyopathy, mental retardation, and vacuolar myopathy, and their mother died of cardiopathy at age 31. Seven families with this syndrome have been described; heredity appears to be X-linked dominant or autosomal dominant, with different expressivity in males and females. The biochemical cause of this lysosomal storage disease is unknown.
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PMID:Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. 358 32

Alcohol has acute and chronic cardiovascular effects. Acutely, alcohol depresses cardiac function and alters regional blood flow. Even when withdrawn from alcohol for several days, alcoholics may still manifest evidence of left ventricular dysfunction. In some alcoholics a severe muscle disorder may ensue with the clinical features of a dilated cardiomyopathy. The concomitant presence of a thiamine deficiency or cirrhosis may produce hemodynamic changes that can obscure the clinical features of alcohol-induced heart muscle disease. Alcoholics may also develop acute myocardial infarction with patent coronary arteries; some may have cardiac arrhythmias even without other evidence of heart disease. Although epidemiological studies suggest that moderate users of alcohol have fewer coronary events than teetotalers, such studies also demonstrate a relation between alcohol abuse and hypertension and an increased occurrence of coronary disease. Thus, the injurious cardiovascular effects of alcohol must be considered when establishing recommendations for its use.
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PMID:Cardiovascular effects of alcohol with particular reference to the heart. 639 13

Skeletal muscle fibers isolated from 50 muscle specimens from 10 children with cardiomyopathy of unknown cause are compared to those from 18 specimens from 5 patients with skeletal muscle myopathies, 45 specimens from 18 patients with congenital heart disease, and 15 specimens from 7 patients with no genetic, chromosomal, or cardiac disease. Muscle fibers from the myopathy specimens show increased nuclei/mm of fiber and increased nuclei/mm/micron of diameter (R value), as well as reduced surface area and volume of cytoplasm per nucleus, compared to control values. The values for cardiomyopathy deviate from normal in the same way as, but to a lesser degree than, those for myopathy--namely, in this material, diseases with cardiomyopathy tend also to produce mild myopathy. Since cardiac and skeletal muscle pathologic findings have not been adequately studied for the majority of the approximately 50 genetic disorders causing cardiomyopathy or otherwise affecting cardiac function described to date, the data indicate primarily that skeletal muscle biopsy will undoubtedly be more useful in cardiomyopathic disorders when the appropriate correlative studies of cardiac and skeletal muscle in such diseases have been done. Because larger biopsy specimens can be obtained, skeletal muscle merits further exploitation in biochemical research on basic mechanisms of disorders causing cardiomyopathy.
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PMID:Myopathic skeletal muscle fiber abnormalities in cardiomyopathies of childhood. 668 71

Scoliosis surgery in the adolescent is prolonged, painful and haemorrhagic. There are neurological risks and surveillance of the medulla is necessary throughout surgery. An anterior (Dwyer, Zielke) or posterior (Harrington, Cotrel-Dubousset, Luque) approach to the spinal column cas used. Surgery using a posterior approach is the more haemorrhagic. The haemorrhage is increased by poor positioning of the patient, by the duration of surgery and by taking the bone graft. Constant care should be given to blood economy, using controlled hypotension, haemodilution and peroperative autotransfusion of lost blood (Cell-Saver). The anaesthetic should provide excellent analgesic effects and must be compatible with regain of consciousness during surgery and/or or the use of evoked potential techniques. Complications at that time are those of the circulation and those of neurological origin and linked with hypothermia. In the presence of haemorrhage, the maintenance of total blood volume is difficult when there is cardiopathy (myopathy). Neurological complications should be detected sufficiently early for them to be reversible (sensori-motor evoked potentials and/or "wake-up test"). Hypothermia is constant and requires the systematic use of a heated mattress, a heated humidifier and the heating of infusions. The postoperative complications are respiratory in origin and are especially associated with neuro-muscular disease (postoperative artificial ventilation). The per- and postoperative difficulties demonstrate the importance of the preoperative examination and of the preparation of the operation (respiratory preparation). Finally, staged autotransfusion should be used, when possible, and should be part of the techniques of blood economy in a true transfusion strategy.
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PMID:[Anesthetic problems and postoperative care in the surgery for scoliosis]. 781 11

Over 60 entries in the genetic catalog have cardiomyopathy features--32 autosomal dominant, 35 autosomal recessive and X-linked. Over 40 present in, or can have survival into, adult life. Major clinicopathologic categories of these cardiomyopathic disorders included: sudden death (13 entities); cardiac conduction disturbance important feature; associated myopathy or motor dysfunction; storage diseases with cardiac involvement; cardiac amyloidoses; and, other categories. Genes, abnormality of which can cause hypertrophic cardiomyopathy (HCM), have been identified on chromosomes 1, 14 and 15, the locus on chromosome 14 involving the B-myosin heavy chain gene, but at least one unidentified locus is known to exist and there is a suggestive locus on chromosome 16, so that HCM is not a single disease but a group of disorders with clinicopatholopic similarities. To investigate these aspects of HCM in some detail, sixty-six patients with "sharply demarcated" differential myocardial fiber bundle hypertrophy (DMBH), considered to be of significant degree, from a pediatric autopsy data base of approximately 8,000 cases, were reviewed. Twenty-three of the patients died suddenly, without antecedent significant cardiac dysfunction, seven had clinical congestive heart failure of varying duration, three were stillborn, six showed evidence of aspiration of amniotic sac content (three had history of fetal distress), five had ischemic bowel disease, three (two with clinical cerebral palsy and one with Ondine's curse syndrome) had cerebral atrophy and sclerosis and one had extensive more acute encephalomalacia, and a variety of other major "causes of death" were present. Whether all infants and children with DMBH meeting the criteria used, who do not have congenital heart disease, have dominant hypertrophic cardiomyopathy (HCM) cannot be established by studies of this type, but the "concentration" of a gene or genes for HCM in pediatric autopsy series because the strong effect of HCM on life expectancy is relevant to this possibility. The data raise the question that stillbirth, fetal distress with aspiration of amniotic sac content, ischemic bowel disease and cerebral atrophy and sclerosis may be hitherto underappreciated features of HCM in childhood, and that patients with HCM may be peculiarly liable to die with certain types of septic shock, such as acute meningococcemia. In the material of this study, sudden death was statistically more frequent in females than in males in childhood (p < .029).
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PMID:Cardiomyopathy in childhood and adult life, with emphasis on hypertrophic cardiomyopathy. 783 Nov 49

Myocardial involvement is frequently present in Xp21-linked muscular dystrophy, due to a lack of dystrophin in cardiac fibres. We describe a 41-yr-old man affected by dilated cardiomyopathy with sporadic episodes of myoglobinuria induced by effort and increased levels of serum creatine kinase. Very mild signs of skeletal myopathy were clinically evident. His mother was affected by an indefinite cardiopathy and suddenly died when she was 36 yr old. Muscle biopsy of the patient showed a dystrophic process. Dystrophin analysis together with a genetic DMD locus study led us to diagnose Becker type muscular dystrophy, with truncated dystrophin and a gene deletion extending from exon 45 to 48. Prevalent cardiac involvement in a Becker type mutation of the dystrophin gene further confirms clinical variability of dystrophinopathies.
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PMID:Prevalent cardiac involvement in dystrophin Becker type mutation. 798 95

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
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PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period. One patient had glycogen storage disease (GSD) type I (von Gierke disease) and seven patients had type IV GSD (Andersen disease). As previously reported [19], a 16.5-year-old-girl with GSD type I was successfully treated in 1982 by orthotopic liver transplantation under cyclosporine and steroid immunosuppression. The metabolic consequences of the disease have been eliminated, the renal function and size have remained normal, and the patient has lived a normal young adult life. A late portal venous thrombosis was treated successfully with a distal splenorenal shunt. Orthotopic liver transplantation was performed in seven children with type N GSD who had progressive hepatic failure. Two patients died early from technical complications. The other five have no evidence of recurrent hepatic amylopectinosis after 1.1-5.8 postoperative years. They have had good physical and intellectual maturation. Amylopectin was found in many extrahepatic tissues prior to surgery, but cardiopathy and skeletal myopathy have not developed after transplantation. Postoperative heart biopsies from patients showed either minimal amylopectin deposits as long as 4.5 years following transplantation or a dramatic reduction in sequential biopsies from one patient who initially had dense myocardial deposits. Serious hepatic derangement is seen most commonly in types I and IV GSD. Liver transplantation cures the hepatic manifestations of both types. The extrahepatic deposition of abnormal glycogen appears not to be problematic in type I disease, and while potentially more threatening in type IV disease, may actually exhibit signs of regression after hepatic allografting.
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PMID:Liver transplantation for type I and type IV glycogen storage disease. 831 29

Familial cases of childhood congestive cardiomyopathy with X linked recessive inheritance and abnormalities of heart muscle mitochondria have been previously reported. We report here three families with possible X linked congestive cardiomyopathy and specific mitochondrial abnormalities. The heart disorder presented as endocardial fibroelastosis with neonatal death in two brothers in one family, and as heart failure and death in infancy in two brothers in the other two families. In one family a maternal uncle may also have been affected. Pyodermia and neutropenia was reported in one of the boys. Electron microscopy of heart muscle after necropsy showed increased numbers of mitochondria and abnormal mitochondrial crystal condensations and paracrystalline inclusions in all sibships. Barth's syndrome has been mapped to Xq28 and includes cardiomyopathy, skeletal muscle myopathy, neutropenia, and mitochondrial abnormalities similar to those found in the three families reported here. Since the clinical picture differed in the three families, they may represent more than one entity.
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PMID:Possible X linked congenital mitochondrial cardiomyopathy in three families. 848 69

Giant cell myocarditis is a rare idiopathic inflammatory heart disease characterized histologically by multinucleated giant cells, and clinically by rapid progressive heart failure, arrhythmias, or sudden death, often within hours to days of initial symptoms. There are two previously reported cases of giant cell myocarditis with idiopathic orbital myositis. We report a similar case in a patient who also had vitiligo, a diagnostic endomyocardial biopsy, and survival because of a cardiac transplant. Giant cell myocarditis should be monitored for in the course of inflammatory orbital myopathy because of its life-threatening fulminant course.
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PMID:Orbital myositis, vitiligo, and giant cell myocarditis. 869 13


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