UMLS:C0018801 - FACTA Search

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Query: UMLS:C0018801 (heart failure)
72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two long-living brothers of dystrophin-related muscular dystrophy with an in-frame deletion of exon 3 of the dystrophin gene were described. Weakness of the lower extremities and pseudohypertrophy of calf muscles began at the age of 2 years in the elder brother and 4 years in the younger brother, respectively. Clinical symptoms progressed rapidly and both of them lost ambulation and became wheelchair bound at the age of 11-12 years. However, the progression of the disease process slowed in late teens, and now at the age of 36 and 33 years, respectively, they do not have respiratory or cardiac insufficiency, although they are disabled severely. Southern blotting with the entire dystrophin cDNAs, cDNA 1-2a, 2b-3, 4-5a, 5b-7, 8, and 9-14, revealed a single deletion of exon 3 in the 2 brothers. The mother was shown to be a heterozygote for this mutation. The unique clinical features of these brothers were presumed due to the following 2 factors: (1) a single deletion of exon 3 is an in-frame deletion of the dystrophin gene, and (2) exon 3 corresponds to a unique domain of the dystrophin molecule; the amino-terminal region which is highly homologous to the actin-binding-region of alpha-actinin. We consider that these 2 brothers are compatible with the so-called frame-shift hypothesis of Duchenne/Becker muscular dystrophy (DMD/BMD) phenotype, although they are diagnosed DMD by the classification method based on the patients' age of becoming permanently wheelchair bound.
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PMID:[Two long-living brothers of dystrophin-related muscular dystrophy with an in-frame deletion of exon 3 of the dystrophin gene--clinical features and diagnosis]. 189 67

Was reported a 23-year-old man with Becker muscular dystrophy (BMD), manifesting heart failure as an initial symptom. He had admitted to a hospital because of his sudden exertional dyspnea due to dilated cardiomyopathy. Because of elevated serum CK level, he had admitted to our hospital for further clinical evaluation. His uncle and male cousin were affected by a mild progressive muscle weakness since second decades. Physically, his intelligence was slightly below the average (WAIS total IQ 71). There was a slight weakness in his pelvic and shoulder girdle muscles. Pseudohypertrophy was observed in calves and tongue. Serum CK level was markedly elevated to ten times of the upper normal limits. Both EMG and muscle biopsy examinations revealed mild myopathic changes. Electrocardiogram showed tall R waves in leads V1 and V2, abnormal Q waves in I, aVL, V5 and V6 and flattened T waves in V5 and V6. On immunostaining of the biopsied skeletal muscle, patchy appearance of dystrophin on the surface membrane of the fiber was detected, which is consistent with BMD. Myocardiac damages in BMD are not always related either to the duration or the severity of the skeletal muscle weakness, as shown in our present case. The possibility that subclinical BMD is one of causes for dilated cardiomyopathy always must be considered.
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PMID:[A case of Becker muscular dystrophy presenting cardiac failure as an initial symptom]. 219 Jul 44

In 6 patients with dystrophin-verified Becker muscular dystrophy (BMD), 3 patients had dilated cardiomyopathy (DCM group). The other 3 patients (non-DCM group) also had ECG abnormalities including incomplete right bundle branch block, left ventricular enlargement and intraventricular conduction defect. Between DCM and non-DCM group, there was no prominent difference in ages at onset, mean duration and severity of muscular weakness. Serum CK levels, and molecular weight and amount of dystrophin also showed no significant difference between two groups. On reviewing 14 BMD patients, including 3 present patients with cardiomyopathy, the cardiac symptoms appeared from 4 to 41 years, averaging 17.1 years of age. The mean duration of muscle symptoms was 9 years, ranging from 0 to 33 years. There was no correlation between severity of muscle weakness and cardiomyopathy. Six patients died of heart failure and 3 received cardiac transplantation. Thus there was no characteristic clinical feature in BMD patients with cardiomyopathy except for very poor prognosis. Since the myocardial involvement is not related with clinical severity and duration of the disease, careful observation for cardiac function should be carried out in all BMD patients even in the early stage of muscle weakness.
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PMID:[Cardiomyopathy in Becker muscular dystrophy]. 226 4

The physiatrist can now be instrumental in prolonging the survival of individuals with neuromuscular disease by using respiratory muscle aids. As a result, morbidity and mortality from cardiomyopathy are likely to increase for patients with generalized myopathies. One hundred consecutive patients with dystrophin-deficient muscular dystrophy and a mean age of 17.2 yr (range, 5-41) satisfied criteria for having dilated cardiomyopathy (DCM) and received digitalis and diuretics. Nine of the 14 patients were symptom-free, despite left ventricular ejection fractions (LVEFs) of 25-40%. The five patients with symptomatic heart failure had severe ventricular dilatation, with LVEFs < 25%. Two of the five patients died of heart failure within 1 yr. For the remaining three patients, we evaluated the addition of the angiotensin-converting enzyme (ACE) inhibitor enalapril and, subsequently, the use of beta-blockers to the therapeutic regimen. Addition of these medications, never before attempted in the management of cardiomyopathy associated with generalized myopathic disease, complemented each other in relieving symptoms and reversing signs of congestive heart failure and DCM. We conclude that the combination of ACE inhibitor and beta-blocker deserves further exploration for inclusion in any management regimen for the treatment of muscular dystrophy-associated cardiomyopathy.
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PMID:A management trial for Duchenne cardiomyopathy. 757 10

We present a 17-year-old boy with Becker muscular dystrophy (BMD) who developed hyperthermia and heart failure after general anesthesia. He presented clinical features of malignant hyperthermia (MH), and had masseter spasm and elevated body temperature (38.7 degrees C) with very high serum CK activity (107,000 IUl-1). Dystrophin tests confirmed a clinical diagnosis of BMD in the patient, i.e. faint and patchy immunostaining pattern of skeletal muscle, truncated dystrophin protein and a deletion of exons 3 and 4 of the dystrophin gene. To inquire into the mechanism of MH associated in the patient, we tested caffeine contracture reaction by the skinned fiber method. We found an increased sensitivity to caffeine only in type 1 muscle fibers. The rate of Ca(2+)-induced Ca2+ release (CICR) was normal, suggesting that the mechanism of "MH" observed in our patient with BMD is not the same as that of classical MH. A possible mechanism might be related to derangements of the sarcoplasmic reticulum membrane in BMD, which sensitize the membrane to caffeine or other agents.
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PMID:Malignant hyperthermia in a patient with Becker muscular dystrophy: dystrophin analysis and caffeine contracture study. 771 42

Hypertrophic cardiomyopathy is a heterogeneous disease with autosomal dominant Mendelian inheritance. In 1989, the 1st locus for hypertrophic cardiomyopathy was mapped to cardiac myosin genes located on chromosome 14q1. Soon, several mutations that cosegregated with inheritance of the disease were identified in the beta-myosin heavy chain gene, or MHY7. More than 30 missense mutations and 1 deletion mutation in the beta-myosin heavy chain gene have since been described. Recently, expression of both the mutant beta-myosin heavy chain mRNA and the mutant protein has been shown in the cardiac and skeletal muscles of individuals with hypertrophic cardiomyopathy. Characterization of the clinical features of beta-myosin heavy chain mutations has shown that certain mutations, such as Arg403Gln and Arg719Trp mutations, are associated with high rate of sudden cardiac death. In addition to the beta-myosin heavy chain gene, 3 new loci for hypertrophic cardiomyopathy have recently been described, but the candidate genes have not yet been identified. Dilated cardiomyopathy can be inherited as an autosomal dominant, autosomal recessive, and X-linked disease. The familial form of dilated cardiomyopathy comprises approximately 20% of the cases of idiopathic cardiomyopathy. Echocardiographic abnormalities such as left ventricular enlargement are present in 10% of asymptomatic relatives. No gene for familial dilated cardiomyopathy has been identified, but linkage studies using polymorphic, short-tandem repeat markers are ongoing. Dilated cardiomyopathy is a common manifestation of Duchenne/Becker muscular dystrophy. Heart failure is a common cause of death in the affected individuals. The gene responsible for this disease is the dystrophin gene located on X chromosome. There have been reports in these patients of several dystrophin-gene deletion mutations, which result in a decrease in the expression of the dystrophin protein in the cardiac and skeletal tissues. X-linked cardiomyopathy, in which the disease is restricted to the heart, has also been linked to the dystrophin gene. Myotonic dystrophy is an autosomal dominant disease that commonly involves the myocardium and the conduction tissue, resulting in conduction defects and heart failure. Sudden cardiac death is the most common cause of mortality in patients with myotonic dystrophy. Recently, the myotonin protein kinase gene located on chromosome 19 was identified as the gene responsible for this disease. Expansion of the number of trinucleotide repeats in the myotonin protein kinase gene results in myotonic dystrophy. Mutations in mitochondrial DNA have been associated with hypertrophic and dilated cardiomyopathy. The inheritance of mitochondrial cardiomyopathy is maternal and the disease is associated with certain systemic disorders.
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PMID:Molecular basis of hypertrophic and dilated cardiomyopathy. 818 May 12

Golden Retriever dogs manifest an X-linked, Duchenne-like, muscular dystrophy with a characteristic lack of dystrophin. Histologic findings have demonstrated the cardiac involvement in these dogs to be a model for the cardiac insufficiency in human Duchenne muscular dystrophy (DMD). The goal of this study was to assess the capability of radionuclide angiography (RNA) as an assessment tool to measure the ventricular dysfunction in these dogs. Three dogs, one normal and two with muscular dystrophy (MD), were studied by equilibrium gated blood pool. Red blood cells were labelled with 420 MBq of 99mTc. The three dogs lying on their left sides on the table, received no drugs and were not restrained in any manner. RNA left ejection fraction (EF) and echographic measurements of left ventricular fractional shortening (FS) were performed during the same session. EF values were 61%, 48%, 36% and FS values were 47%, 32%, 26%, respectively, for the control dog, the 6 month old MD dog and the 12 month old MD dog. This preliminary study demonstrates the potential usefulness of RNA for the non-invasive follow-up exams of specific therapy in a canine model of muscular dystrophy.
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PMID:Non-invasive evaluation of the cardiac function in golden retriever dogs by radionuclide angiography. 818 87

Patients with Becker muscular dystrophy (BMD) have milder muscular impairment and better prognosis than patients with Duchenne muscular dystrophy (DMD). Another difference is that while cardiac failure due to myocardial involvement is a frequent cause of death in BMD, respiratory failure is the most common cause of death in DMD. We examined cardiac function and the mechanism of cardiac failure in 21 BMD patients aged 3 to 63 years (mean, 40.4) by electrocardiography, mechanocardiography, echocardiography, and post-mortem examination. Diagnosis of BMD was made by characteristic symptoms, dystrophic change in muscle histology, and the followings: 1) a deletion in the dystrophin gene, 2) "patchy" staining of dystrophin on immunocytochemical analysis, 3) abnormal dystrophin size on Western blotting, and 4) presence of a definite carrier in the family. To be diagnosed as BMD, patients exhibited one or more of 1)-3). Patients who were diagnosed only by 4) had a relative who had been diagnosed as BMD by one of 1)-3). The control group included 43 DMD patients (age 4-26 years, mean 16.2) and 20 healthy males (age 15-60 years, mean 33.3). Electrocardiogram showed prominent Q waves in leads II, III, aVF and V6, and tall R in V1, suggesting myocardial injury in the posteroinferior and lateral walls. The ratio of ejection time to pre-ejection period (ET/PEP) decreased to 2.0-3.3 in BMD, and was significantly lower than that in DMD patients with comparable muscle weakness. Left ventricular dilatation became more prominent with age, and end-diastolic left ventricular dimension (EDLVD) averaged 52.3 mm.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical feature and mechanism of cardiac failure in patients with Becker muscular dystrophy]. 819 65

Familial hypertrophic cardiomyopathy (FHCM) is a heterogeneous disease with an autosomal dominant Mendelian inheritance and variable penetrance. Several mutations in the beta-myosin heavy chain (beta MHC) gene, the first gene identified for this disease, have been described that co-segregate with the inheritance of the disease. All the mutations in the beta MHC gene encode for the globular head of the myosin protein except for the deletion mutation which encodes for the carboxy-terminus (rod) of the protein. The clinical features associated with some of the mutations in the beta MHC gene have been characterized. A missense mutation in exon 13 of the beta MHC gene, is associated with a higher incidence of sudden cardiac death and severe form of the disease, while some others are associated with a more benign form of the disease. Recently, three other loci, on chromosomes 1q3, 11q11 and 15q2, for FHCM have been identified and research is ongoing to identify the candidate genes. Cardiac involvement in Duchenne/Becker muscular dystrophy (DMD), and myotonic dystrophy is common. Heart failure due to dilated cardiomyopathy and sudden cardiac death are the common causes of death in these disorders. The genes responsible for DMD and myotonic dystrophy are dystrophin and myotonin protein kinase genes located on chromosomes X and 19 respectively. The disease in DMD is due to deletion mutations in the dystrophin gene, while myotonic dystrophy is due to expansion of the GCT trinucleotide repeats in the myotonin-protein kinase gene. Familial dilated cardiomyopathy comprises 20% of cases of idiopathic dilated cardiomyopathy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Molecular genetics of cardiomyopathies. 837 3

Myocardial damage and cardiopulmonary functions in patients with Duchenne's muscular dystrophy (DMD) were assessed using thallium-201 myocardial single-photon emission computed tomography (SPECT) and technetium-99m multigated radionuclide angiography. Twenty-five patients with DMD were divided into 4 groups according to percent of perfusion defect (%PD) calculated by the bull's-eye method and age. PD was detected in 24 (96.0%) of 25 patients with DMD, and it spread from the left ventricular lateral wall to the anterior wall and/or interventricular septum. PD was detected even in a 6-year-old DMD boy. Patients in Group I (%PD > or = 10 and age < 15 years old) were shown to have a higher risk of left-sided heart failure without respiratory failure. Patients in Group II (%PD > or = 10 and age > or = 15) showed decreased pulmonary function and worsened arterial blood gas values as compared with Group IV (%PD < 10 and age > or = 15). There was no significant difference in cardiac function among the 4 groups. It is postulated that myocardial damage in Group II patients is dependent primarily on a deficiency of dystrophin and on chronic respiratory failure, and that some of them are at risk of cardiopulmonary failure. It is concluded that myocardial SPECT is useful for the early diagnosis of myocardial damage and evaluation of cardiopulmonary function in DMD patients.
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PMID:Evaluation of myocardial damage in Duchenne's muscular dystrophy with thallium-201 myocardial SPECT. 851 72

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