Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Facioscapulohumeral muscular dystrophy is an autosomal dominant disorder with an incidence of 3 to 10 cases per million. The only type of cardiac involvement ascribed to this neuromuscular disorder is a unique form of heart disease--permanent atrial paralysis. However, reported cases of facioscapulohumeral muscular dystrophy probably represented instead what is now recognized as phenotypically similar Emery-Dreifuss dystrophy. Cardiac involvement, therefore, has not been convincingly reported in facioscapulohumeral muscular dystrophy, but because of the clinical similarity of that disorder to Emery-Dreifuss dystrophy and its genetic variants, a prospective investigation of the electrophysiologic properties of the atria and atrioventricular (AV) node and infranodal conduction was undertaken in 30 rigorously documented cases of facioscapulohumeral muscular dystrophy. All patients had a 12 lead surface electrocardiogram (ECG), 22 had a 24 h ambulatory ECG, 15 patients had two-dimensional echocardiographic/Doppler studies and 10 patients underwent 12 intracardiac electrophysiologic investigations. Left atrial, right atrial or biatrial P wave abnormalities were present in 60% of the surface ECGs. Evidence of abnormal AV node or infranodal conduction was present on intracardiac electrophysiologic study or surface ECG in 27% of patients. Atrial flutter or fibrillation was induced by single atrial extra stimuli in 10 of the 12 intracardiac electrophysiologic studies. Sinus node function was abnormal in three patients. This investigation provides the first secure evidence of cardiac involvement in facioscapulohumeral muscular dystrophy. The involvement is represented by relatively high susceptibility to induced atrial flutter or fibrillation during electrophysiologic study, together with less frequent evidence of abnormal sinus node function and abnormal AV node or infranodal conduction.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Facioscapulohumeral muscular dystrophy: evidence for selective, genetic electrophysiologic cardiac involvement. 229 71

Friedreich ataxia (FRA) is an autosomal recessive neuromuscular disorder in which nearly all affected homozygotes eventually develop significant cardiomyopathy and a substantial proportion also develop diabetes mellitus. Diabetes and early heart disease have been observed previously in close blood relatives of FRA patients. To test the hypothesis that FRA heterozygotes may have elevated rates of heart disease mortality and diabetes incidence, we compared the rates of these conditions in 1,191 adult blood relatives to those in 745 nonblood relative spouse controls in 27 families of FRA patients. We found no evidence for an excess of diabetes in the blood relatives. For three broad categories of circulatory disease mortality, the FRA blood relatives had significantly higher rates than the spouse controls. However, when each relative's prior probability of heterozygosity for the FRA gene was taken into account, the resulting estimates of relative risk of dying from circulatory disease for FRA heterozygotes compared to nonheterozygotes were not significantly elevated. Since the latter analysis provides the best test of the hypothesis, our data did not strongly support the hypothesis that FRA heterozygotes are at increased risk of cardiac death.
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PMID:Circulatory disease mortality and diabetes incidence in 27 families with Friedreich ataxia. 320 55

Two females mother and daughter, were affected by a neuromuscular disorder, characterized by slow progression, humeroperoneal weakness and wasting, limited neck flexion, elbow and ankle joint contractures, cardiopathy and myopathic pattern on EMG. Muscle histology and histochemistry showed type I fiber atrophy and predominance in both. Cardiac abnormalities, in the first case, were suggestive of a hypertrophic cardiomyopathy while in the second hypotension and chronic bradycardia were present. Neurological signs, EMG and morphology seemed to point to a genetic variant of the form of dystrophy named Emery-Dreifuss disease. The mode of transmission and cardiac abnormalities, however, raise the problem of variability even in this well-defined, usually X-linked, disorder.
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PMID:Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: a genetic variant of Emery-Dreifuss disease? 395 25

Myasthenia gravis is a neuromuscular disorder, and the severe complication of myasthenic crisis is a life-threatening condition, usually induced by stress such as fever, trauma or a surgical procedure. Simultaneous heart surgery and thymectomy in a patient with concomitant heart disease and myasthenia gravis has been previously reported. We report a female patient with rheumatic valvular disease and myasthenia gravis who received triple heart valve surgery and thymectomy simultaneously. In her early recovery, two episodes of myasthenic crisis occurred which were treated promptly with a successful surgical outcome.
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PMID:Simultaneous operation for multiple valvular disease and myasthenia in a woman. 2081 Mar 14

Strabismus surgery is one of the most common paediatric operation procedures. As associated with congenital syndrome, congenital heart disease and neuromuscular disorder, the anesthesiologic management has to be planned carefully. Considering high incidences of oculocardiac reflex (OCR) and postoperative nausea and vomiting (PONV) anesthesia can be performed to decrease both. Induction of anesthesia with ketamine or midzolam reduces risk of oculocardiac reflex, whereas propofol or remifentanil lead to higher incidences of OCR. A combination anti-emetic therapy from different drug classes is recommend to patients at high risk for nausea and vomiting like patients undergoing strabismus surgery. A combination therapy of ondansetron and dexamethasone lead to a risk reduction of PONV to at least 10 %. Further, the incidence of OCR and PONV is significantly reduced in children receiving peribulbar block on top of general anaesthesia.
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PMID:[Pitfalls of anesthesiologic management in paediatric strabismus surgery]. 2131 41