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)

A 37-year-old woman with scapulohumeral muscular atrophy, rigid spine and cardiopathy is reported. Muscle weakness, advanced atrioventricular block and contractures at the neck, elbows and ankles had occurred during her childhood. An autosomal dominant mode of inheritance was suggested because her mother, sister and brother had the same disorder. Pleomorphic mitochondria had accumulated in the subsarcolemmal space of the skeletal muscle. There was no evident enzyme defect in the mitochondrial electron transport system. Although the clinical features had some similarity with those of Emery-Dreifuss muscular dystrophy or rigid spine syndrome, the pattern of inheritance and the muscle pathology differed.
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PMID:Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality. 291 28

Experimental and clinical experience with compounds containing antimony have shown that the trivalent compounds are generally more toxic than the pentavalent ones. APT can cause severe pain and tissue necrosis and is therefore not given by intramuscular or subcutaneous injection. APT has the actions and uses of AST, but it is less soluble and more irritating than the sodium salt which is therefore more suitable for intravenous use. Trivalent antimony compounds are toxic when used topically. Adverse effects are similar for all trivalent compounds, and include nausea, vomiting, weakness and myalgia, abdominal colic, diarrhoea, and skin rashes, including pustular eruptions. Hypersensitivity reactions also occur. Respiratory symptoms include cough, dyspnoea, and chronic lung changes. Cardiotoxicity is the most important and may produce arrhythmias, myocardial depression and damage, Stokes-Adams attacks, heart failure, and cardiac arrest. Hepatic damage and necrosis, as well as blood dyscrasias, may occur. Toxic effects on the kidney may follow chronic use. Continuous treatment with small doses of antimony may give rise to symptoms of subacute poisoning, similar to those of chronic arsenic poisoning, due to accumulation of antimony in the body, especially if trivalent compounds are used, because of their long biological half-lives. Reproductive disorders and chromosome damage have been reported; antimony compounds are, therefore, potentially toxic to reproduction and have mutagenic, and oncogenic potential. Antimony compounds should, therefore, not be used during pregnancy or in the presence of hepatic, renal, or heart disease. Pentavalent antimony preparations especially the organic compounds, together with non-metallic synthetic preparations, such as the diamidines, have now replaced APT for use in leishmaniasis. Because of the toxicity of antimony compounds, investigations have been undertaken to reduce their adverse effects by combining them with chelating agents. These preparations appear to have reduced the toxic effects of antimony without affecting the efficacy of the preparations. Liposome-encapsulated antimony products have, more recently, been shown to be much less toxic because of the reduced dose of the antimony compound required for effective therapy. The historical uses of antimony were based on the belief that the topical and systemic adverse effects, for example, skin eruptions and diarrhoea and vomiting, were signs that the condition being treated was responding by being brought to the surface to relieve congestion at the diseased area. There is no evidence in topical use, but there is evidence that such use can cause severe reactions.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Toxicity of antimony and its compounds. 330 36

The pathologic features of muscle and/or spinal cord were studied in 96 infants and children with contractures of multiple joints (arthrogryposis multiplex congenita), usually in association with other congenital abnormalities. Ninety of these infants had a neurogenic form of arthrogryposis, and six had primary muscle disease. The neurogenic form, unlike the myopathic form, was usually associated with other congenital abnormalities. The most frequently associated congenital changes were low-set ears, micrognathia, wide flat nose, short neck, congenital heart disease, high-arched palate, hypoplastic lungs, and cryptorchidism. Some of the associated abnormalities could be attributed to muscle weakness, occurring during intrauterine development. A variety of skeletal muscle changes were observed, including primary myopathic alterations, fiber type predominance and disproportion, hypoplasia, aplasia, and denervation atrophy. When the primary alterations were in the spinal cord, abnormalities of anterior horn cells of several distinct types were recognized--absence of cells, diminution, dysgenesis, degeneration, and axonal reaction. The changes in anterior roots corresponded to those of the anterior horn cells.
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PMID:Arthrogryposis multiplex congenita: spectrum of pathologic changes. 372 92

Five cases are described in which noninflammatory pulmonary arterial aneurysmal disease existed. In each case, severe pulmonary hypertension had been present. In one (woman, age 50 years), the pulmonary hypertension was of the primary type, while in each of the others, congenital heart disease was an underlying condition (atrial septal defect in three cases; each woman, age range 35 to 56 years) and complete transposition in the remaining case (boy, age ten). In one case with atrial septal defect, saccular aneurysm involving each major pulmonary arterial branch was considered to have resulted from atherosclerotic disease. In each of the remaining cases, cystic medial necrosis was present, and the aneurysmal disease was the result of laceration of a major pulmonary arterial segment. In one of the cases with atrial septal defect, the laceration was recent and extended through the full thickness of the pulmonary trunk in a circumferential manner. In the remaining three cases, lacerations were usually old and had not extended through the full thickness of the involved arterial segments. Saccular aneurysm formation (usually multiple) had resulted from weakness of the wall as a result of laceration and retraction of tissue.
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PMID:Pulmonary arterial aneurysm. A pathologic study of five cases. 380 35

We evaluated factors affecting mortality and quality of life in 1,013 patients with acute stroke followed for 2 to 8 years. In cerebral infarction, the major determinants for short-term mortality were impaired consciousness, leg weakness, and increasing age. The major determinants for long-term mortality were low level of activity at hospital discharge, advanced age, male sex, heart disease, and hypertension.
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PMID:Prognosis of acute stroke. 380 2

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

We questioned 113 patients with subsequently diagnosed sustained ventricular tachycardia (VT) regarding the symptoms that prompted their seeking hospital treatment, eliciting the following: 15% of patients had lost consciousness, 15% had near syncope, 35% had mild lightheadedness and 35% had no cerebral symptoms. Patients with preexisting congestive heart failure or a VT rate of 200 beats per minute or greater more often lost consciousness. Other symptoms included palpitations in 57% of patients, chest pain in 27%, dyspnea in 25%, weakness in 6%, nausea or diaphoresis in 3% each and flushing in 2%. In approximately 50% of patients who had mild lightheadedness or no cerebral symptoms, their condition was incorrectly diagnosed as supraventricular tachycardia based on the absence of severe symptoms during the tachycardia. In some patients, VT may be associated with mild or atypical symptoms. The differentiation of supraventricular from ventricular tachycardia should be based on electrocardiographic criteria and should not be influenced by the nature or severity of a patient's symptoms. The severity of cerebral symptoms is at least partially related to the VT rate and a patient's underlying heart disease.
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PMID:Clinical symptoms in patients with sustained ventricular tachycardia. 399 9

The authors examined 33 coronary heart disease patients with the syndrome of pacemaker weakness (SPW) aged 54 to 82 years. In 18 of the patients the clinical and electrocardiographic manifestations of the SPW were intermittent and appeared simultaneously with exacerbation of coronary heart disease. Patients with the SPW but without a history of myocardial lesions displayed the hyperdynamic type of the circulation. Even with normal and elevated parameters of the central hemodynamics they showed decreased adaptational capabilities of the body in relation to exercise. The development of circulatory insufficiency in the SPW to a large extent stems from myocardial lesions following the previous heart disease.
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PMID:[Various features of the clinical picture and central hemodynamics of patients with the sick sinus syndrome]. 652 Dec 22

In 2793 respondents aged 65 and over in a survey of a geographically defined community, who were asked about falls in the preceding twelve months, the estimated annual prevalence rate (persons) of falls was 28.0%. Standardized for age, the rate was twice as high in women as in men. Rates increased with age but more steeply in men than in women. Compared with non-fallers, fallers had been in more recent contact with their general practitioner, showed higher prevalence of problems with mobility and daily living, a more frequent history of stroke and heart disease, and had more episodes of non-rotatory vertigo, double vision, faints and blackouts and episodes of weakness or numbness. Fallers also showed more frequent evidence suggestive of cognitive impairment. More fallers than non-fallers were taking diuretics and tranquilizers and these associations merit further study.
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PMID:Factors associated with falls in the elderly: a community study. 727 Mar 21

Clinical characteristics of ten patients with Friedreich's disease are presented. Two cases were members of the same family, another patient had a brother with the disease, and in two cases there was consanguinity. The dominant inheritance pattern was absent in all cases. Initial symptoms and clinical signs were present under 5 years of age in six cases, and in three of them under 2 years of age. As reported in other series, in our cases the disorder first appeared in the legs. Other early manifestations included skeletal deformities and dysarthria, as well as diplopia, paresthesias and dizziness. Friedreich's ataxia results from pyramidal tract degeneration and changes in the cerebellum. Babinski sign was present in nine patients. Other findings were: muscular weakness, distal amyotrophy and distal dystonia. Two patients suffered epileptic attacks with typical EEG pattern. Kyphoscoliosis and pes cavum were constant skeletal deformities. ECG revealed signs of myocardial ischemis in nine patients, although none of them had symptomatology of heart disease. Glucose tolerance test carried out in three cases showed diabetic curves. Results of nerve speed conduction were as follows: normal in one case; decreased sensitive speed conduction in four cases, and decrease of both sensitive and motor speed conduction in other four cases. EMG showed signs of chronic denervation in three cases. These results coincide with those published by other authors.
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PMID:[Friedreich's disease. Clinical study of ten cases (author's transl)]. 737 33


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