Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a girl who presented with gastrointestinal upsets with nausea, vomiting and occasional hypoglycaemic attacks during childhood is reported. At about 5 years of age generalised muscular weakness with severe amyotrophy, cardiomegaly with a cardiothoracic ratio of 0,63, left ventricular hypertrophy on electrocardiography and left ventricular dilatation with hypokinesis on echocardiography were observed. A few weeks later she developed severe cardiac failure. Muscle biopsy showed muscular dystrophy with lipid infiltration due to carnitine deficiency )serum carnitine 9 nmoles/ml, normal values: 46 +/- 6,9 nmoles/ml; muscle carnitine 0,27 nmoles/mg, normal values: 3,0 +/- 0,79 nmoles/mg fresh frozen weight). She improved rapidly with carnitine chlorhydrate and a diet low in lipids and high in medium chain triglycerides. Regression of muscular symptoms and cardiac failure was observed. After 13 months follow-up with no tonicardiac therapy she is much improved; the signs of heart failure have disappeared, the cardiothoracic ratio is now 0,55 and the electrocardiogramme and echocardiogramme are normal.
 ...
PMID:[Lipidic myopathy with severe cardiomyopathy caused by a generalized carnitine deficiency. Favourable course during carnitine hydrochloride treatment]. 11 7

There have been many studies which suggest that patients with heart failure were potassium depleted. This depletion has been attributed to the use of potent diuretics, and these are now given with either potassium supplements or potassium-retaining diuretics. A detailed examination of the studies suggests that the reported decrease in body potassium compared with the results in healthy persons is not due to the diuretics. It can be partly explained by a failure to match patients and controls in terms of age, and the remaining difference can be explained by muscle wasting. There is therefore no evidence of a potassium depletion in these patients with heart failure.
 ...
PMID:Potassium depletion in heart failure and its relation to long-term treatment with diuretics: a review of the literature. 34 54

A child with Refsum's disease presented with cardiac failure, marked muscle wasting, weakness and inco-ordination. Management with multiple plasma exchanges and dietary restriction of phytanic acid intake has reversed the disabling features of the disease, although levels still remain higher than target values. Low phytanic acid intake is being achieved by restriction of total fat to 10 to 12 g/day, while allowing free amounts of fruit and green vegetables.
 ...
PMID:A child with Refsum's disease: successful treatment with diet and plasma exchange. 246 31

In patients with Duchenne muscular dystrophy (DMD), heart failure appears in later stage of the disease due to myocardial degeneration and respiratory insufficiency, and sometimes causes death. However, there have been no adequate parameters which can be used easily to evaluate the grade of heart failure in DMD, except cardiac enlargement and pulmonary congestion observed by chest X-ray picture. Thus, we measured the plasma concentrations of atrial natriuretic peptide (ANP) in the patients with muscular dystrophy of various types, and studied a relationship between plasma ANP concentration and heart failure, expecting that it could be an index of heart failure in DMD patients. The plasma ANP concentrations in patients with DMD were 35.5 +/- 3.3pg/ml (mean +/- SE) and higher than in normal subjects (19.3 +/- 1.0pg/ml). In the patients with limb-girdle muscular dystrophy, facioscapulohumeral muscular dystrophy and neurogenic muscular atrophy, the plasma ANP concentration showed a tendency to elevate. However, no elevation of plasma ANP levels was observed in the patients with other types of muscular dystrophy. In DMD, number of the patients having a high plasma ANP concentration was increased with progress of disability grade, and decrease in serum creatine kinase activity and serum myoglobin concentration. There was a significant correlation (p less than 0.01) between plasma ANP concentration and cardiothoracic ratio or PEP/LVET, but no correlation between the concentration and respiratory failure. Immunohistochemistry of the atrial cardiac muscle of an autopsied DMD case revealed many ANP-positive atrial muscle cells, indicating the preservation of ANP-secreting function.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Secretion and clinical significance of atrial natriuretic peptide in patients with muscular dystrophy]. 252 1

Myotonia is defined as a persistent contraction of skeletal muscles after their stimulation. This contracture is not prevented or relieved by regional anaesthesia or muscle relaxants. The sensitivity to non-depolarizing muscle relaxants is usually normal. Suxamethonium, neostigmine, hypothermia, a rise in kalaemia should be avoided. There have been case reports of malignant hyperthermia in patients with myotonia congenita. Dystrophia myotonica is the second most frequent of the inherited muscle diseases, after Duchenne's dystrophy. The severity of the disease is due more to the muscular atrophy and the multiple organ involvement than to the abnormal contraction. Atrioventricular heart block and dysrhythmias are more common than heart failure. Prolonged apnoea and pneumonia are the main risks of anaesthesia. In severe cases, exists a restrictive respiratory insufficiency which is preceded by a fall in the maximum expiratory pressure. Dysphagias and inefficient coughing may occur early. An increased susceptibility to hypnotic drugs and opiates is a common feature. Spontaneous sleep apnoeas should be sought before anaesthesia, especially by using pulse oximetry. The anaesthetic implications are reemphasized.
 ...
PMID:[Anesthesia in myotonia]. 253 24

Total body elemental composition was measured in 40 patients with well documented heart failure who were oedema-free on digoxin and diuretics. The results were compared with values for 20 patients with untreated essential hypertension matched for height, weight, age, and sex. Total body potassium alone was also measured in 20 normal subjects also matched for anthropomorphic measurements. Patients with hypertension had a very similar total body potassium content to that of normal subjects, but patients with heart failure had significantly reduced total body potassium. This could not be explained by muscle wasting because total body nitrogen, largely present in muscle tissue, was well maintained. When total body potassium was expressed as a ratio of potassium to nitrogen mass a consistent depletion of potassium was revealed in the group with heart failure. Potassium depletion was poorly related to diuretic dose, severity of heart failure, age, or renal function. Activation of the renin-angiotensin-aldosterone system was, however, related to hypokalaemia and potassium depletion. Such patients also had significantly lower concentrations of serum sodium and blood pressure. Serum potassium was related directly to total body potassium. Despite the absence of clinically apparent oedema total body chlorine was not consistently increased in heart failure, but the calculated extracellular fluid volume remained expanded in the heart failure group. Total body sodium was significantly increased in patients with heart failure, but less than half of this increase could be accounted for by extracellular fluid volume expansion. Potassium depletion in heart failure may account in part for the high frequency of arrhythmias and sudden death in this condition.
 ...
PMID:Total body electrolyte composition in patients with heart failure: a comparison with normal subjects and patients with untreated hypertension. 331 Oct 97

A family of Becker's muscular dystrophy with marked cardiomyopathy was studied. The propositus, a 16-year-old boy with marked pseudohypertrophy in calves, showed electrocardiographic abnormalities resembling those in the Duchenne's type. Radionuclide study and endomyocardial biopsy revealed remarkable degeneration of myocardium. His uncle, who also had slight proximal muscular atrophy and weakness, and calves' pseudohypertrophy, died of heart failure at the age of 47, and autopsy showed dystrophic changes in skeletal muscles and extensive myocardial damage. Severe cardiac involvement can occur in Becker's muscular dystrophy which has been known to have an essentially benign clinical course, and radionuclide investigation is useful for the detection of preclinical cardiac lesions in patients with muscular dystrophy.
 ...
PMID:A family of Becker's progressive muscular dystrophy with severe cardiomyopathy. 362 71

A 14-year old boy was admitted for signs of heart failure and scapuloperoneal muscle weakness. He fulfilled the clinical, functional and diagnostic criteria for dilated cardiomyopathy. There was also a moderate increase in pulmonary vascular resistance. The immunohistochemical examination of the heart muscle revealed a slightly positive phytohemagglutinin reaction and minimal IgM deposits without complement. The electron microscopy examination disclosed increased numbers of abnormal mitochondria disrupting the usual cell structure; the mitochondria were of various sizes with irregular and abnormal structure of the cristae. The scapuloperoneal spinal muscular atrophy was mild and diagnosed according to clinical and electromyographic findings. Light microscope examination of the skeletal muscle revealed hypotrophic fibers. This patient is presumed to have postinflammatory mitochondriopathy and is currently being managed on low-dose digitalis, diuretics and captopril.
 ...
PMID:Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. 769 85

A patient with cytoplasmic body myopathy presented muscle hypotonia from birth and developed progressive muscular atrophy and weakness, scoliosis, contracture of joints and cardiorespiratory failure. At the age of 17, he died of heart failure. Post mortem examination revealed severe hypertrophy of cardiac walls and generalized muscular atrophy. Microscopic examination showed many cytoplasmic bodies in skeletal muscle fibers and myofiber disarray in myocardium. No cases of cytoplasmic body myopathy with hypertrophic cardiomyopathy have been reported previously. It is suggested that the Z-line component is related to the formation of the cytoplasmic body in skeletal muscle and disarray in the cardiac muscle.
 ...
PMID:Cytoplasmic body myopathy with hypertrophic cardiomyopathy. 778 21

Type IV glycogenosis (polyglucosan body disease) is a rare congenital autosomal recessive inherited disorder, caused by lack of the branching enzyme (amylo-1,4-1,6 transglucosidase). This deficiency leads to storage of abnormal glycogen (polyglucosan bodies) in the liver and other tissues. The clinical onset of the disease is insidious with non-specific gastrointestinal symptoms followed by progressive hepatic failure. Usually patients die due to hepatic cirrhosis within 4 years. Sometimes myopathy of the heart and skeletal muscle is also present. In these cases, the clinical onset is often later than in typical cases. We report on two brothers with primarily cardiac manifestation and late onset of the disease. The older one started to suffer from progressive dilated cardiomyopathy at the age of 18 years, presenting with severe heart failure, hepatosplenomegaly, ascites and peripheral oedema. He also demonstrated myopathy and muscular atrophy especially of the shoulder and lower limbs. Initially he improved on medical therapy, but one year later severe heart failure recurred followed shortly afterwards by sudden cardiac death. Right heart and skeletal muscle biopsies were performed while he was alive. These, as well as the autopsy, revealed massive accumulation of polyglucosan bodies. In both heart and skeletal muscle, complete branching enzyme deficiency could be proven. His 14-year-old brother showed similar clinical findings of mild dilated cardiomyopathy. His muscle biopsy also revealed polyglucosan body myopathy. Thus, in young patients presenting with congestive cardiomyopathy, type IV glycogenosis has to be considered in the differential diagnosis.
 ...
PMID:A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy. 888 67


1 2 3 4 5 6 7 8 9 10 Next >>