Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The A 3243 G mutation of the mitochondrial tRNA(Leu) gene was found to segregate with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy, or renal failure in a large pedigree of 35 affected members in four generations. Presenting symptoms almost consistently involved deafness and recurrent attacks of migraine-like headaches, but the clinical course of the disease varied within and across generations. The A 3243 G mutation has been previously reported in association with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome (MELAS) and with diabetes mellitus and deafness. To our knowledge, however, hypertrophic cardiomyopathy is not a common feature in people with the A 3243 G mutation and renal failure has not been hitherto reported in association with this mutation. The present observation gives additional support to the variable clinical expression of mtDNA mutations in humans.
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PMID:Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. 747 62

In a 24-year-old woman with mitochondrial encephalomyopathy presenting hypertrophic cardiomyopathy, microscopical examination of myocardial biopsy specimen disclosed severe vacuolar degeneration of myocardium and aggregates of enlarged mitochondria with proliferated cristae. Limb muscle biopsy specimen showed "ragged-red fibers" light microscopically and enlarged abnormal mitochondria with markedly increased cristae ultrastructurally. Mitochondrial DNA analysis by polymerase chain reaction (PCR) revealed an A-to-G transition in the mitochondrial transfer RNA(Leu)(UUR) gene at nucleotide position 3,243 which is reported to be associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). However, the clinical features of this case, presenting mainly cardiac abnormalities, were not consistent with the typical MELAS.
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PMID:Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. 749 82

We describe a case of a 34-year-old male patient first hospitalized in February '93 for stroke (concomitant dilated-hypertrophic cardiomyopathy was noted), and then in April '93 for congestive heart failure. The presence of myopathy, encephalopathy, lactic acidosis and stroke episode allows for the diagnosis of MELAS syndrome, proven by a specific point mutation in mitochondrial DNA. In this case we were able to observe not only the electrocardiographic and echocardiographic features of hypertrophic cardiomyopathy, previously described in mitochondrial encephalomyopathies, but we were also able to monitor the rapid evolution of this cardiomyopathy towards the hypokinetic dilated form with severe impairment of systolic function; this transition was due to changes in the heart anatomy and structure with reduction in the left ventricular (LV) wall thickness and dilatation of all chambers. The remodeling of LV geometry seems to be not definite and capable of dynamic evolution, as suggested by clinical and echocardiographic findings evaluated six months after the hospitalization. In this patient, we obtained a mid-term favourable clinical outcome using inotropic drugs and Ubiquinone (coenzyme Q), an intermediate substrate of the energetic metabolism, which seems to be poorly synthetized because of the early enzymatic defects in the mitochondrial respiratory chain.
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PMID:[The MELAS syndrome and dilated-hypertrophic cardiomyopathy: a case report]. 764 13

An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) in a 56 yr-old woman is reported. Histopathologic abnormalities are shown widely in the heart, liver, kidney, pancreas and thyroid gland, other than the central nervous system and skeletal muscles that had been so far emphasized in the cases of MELAS. Particularly in the myocardium, focal fibrosis and a disarray of myofibrils were demonstrated, which closely resembled that seen in idiopathic hypertrophic cardiomyopathy. In addition, unique mitochondrial abnormality exhibiting a central glycogen aggregation with surrounding multiple radiating cristae was noted in some cardiomyocytes, which has never been reported in previous cases of MELAS. Thus, in MELAS, various histopathological abnormalities including the mitochondrial abnormalities may involve tissues other than those of the neuromuscular system.
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PMID:Severe mitochondrial cardiomyopathy and extra-neuromuscular abnormalities in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS). 765 35

To elucidate the morphologic characteristics of the left ventricle in patients with hypertrophic cardiomyopathy who developed atrial fibrillation, we studied left ventricular geometry by two-dimensional echocardiography in 92 patients with hypertrophic cardiomyopathy. These patients were divided into two groups; 24 patients with transient or persistent atrial fibrillation (group I) and 68 patients with sinus rhythm (group II). Left ventricular chamber size in group I was significantly smaller than that in group II. Left ventricular chamber size was correlated positively with stroke volume, and was correlated negatively with left ventricular end-diastolic pressure. The incidence of systemic thromboembolism in group I was 7.1% per patient year. In hypertrophic cardiomyopathy, the size of the left ventricle appears to have major pathophysiologic significance in the development of atrial fibrillation. In addition, since patients with hypertrophic cardiomyopathy who develop atrial fibrillation have a potential risk of systemic thromboembolism, prophylactic anticoagulant therapy should be performed in these patients.
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PMID:Mechanism of atrial fibrillation and increased incidence of thromboembolism in patients with hypertrophic cardiomyopathy. 766 71

Coronary heart disease (CHD) is the most common cause of death in Western industrialized countries. CHD is more common in individuals with clustering of coronary risk factors, e.g., hypertension and blood lipid abnormalities. There is a good rationale for the use of beta-blockers for prevention of myocardial infarction (MI) in high-risk groups, as beta-blockade decreases myocardial oxygen consumption and, by decreasing turbulent blood flow patterns, reduces endothelial shear forces, thus making plaque rupture (and the ensuing thrombotic events) less likely. Clinical trial data have shown beta-blockade to be effective in the prevention of cardiovascular end points. In both younger and older hypertensive patients there is a significant reduction in the incidence of stroke and in younger hypertensive patients there is about a 15% reduction in MI. Left ventricular hypertrophy (particularly by ECG) is significantly diminished. In secondary prevention of MI there is about 15% reduction after early and 25-30% reduction after late intervention with beta-blockers given post-MI. In both stable and unstable angina, beta-blockade appears to be beneficial not only in improvement of symptoms but also in prevention of hard cardiovascular end points. There are also promising data suggesting that beta-blockade is useful in endothelial protection and atheroma prevention, and benefits patients with hypertrophic cardiomyopathy and heart failure. beta-Blockers have evolved from early nonselective agents, e.g., propranolol, to modern highly beta 1-selective agents, e.g., bisoprolol. beta 1-Blockade is the essential element that leads to the above cardiovascular benefits in addition to improving the quality of life (similar to angiotensin-converting enzyme inhibitors).
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PMID:The beta 1 hyperselectivity in beta-blocker treatment. 775 68

A 40-year-old woman presented with profound muscle weakness resulting in failure to wean from a ventilator and persistent lactic acidosis after having recovered from a pneumonia complicated by adult respiratory distress syndrome, myocardial infarction, renal failure and shock. She had a 28 year history of chronic anemia and exercise intolerance. Anemia and thrombocytopenia persisted after admission. Nonobstructive hypertrophic cardiomyopathy was present. A stroke-like episode occurred. A mitochondrial myopathy with deficiencies in complexes IV and II was demonstrated, but no DNA defect has yet been found. This patient represents a distinct clinical presentation of a mitochondrial disorder characterized by late onset mitochondrial myopathy, chronic anemia, cardiomyopathy, and lactic acidosis.
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PMID:Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder. 809 86

Cine magnetic resonance imaging was used to analyze global and regional left ventricular function in seven patients with obstructive hypertrophic cardiomyopathy (HC) and 10 normal subjects. In patients with HC a 38% higher left ventricular mass index (106.4 +/- 20.2 gm/m2 vs 77.0 +/- 16.1 gm/m2, p < 0.005) associated with a lower end-diastolic volume index (44.9 +/- 8.9 ml/m2 vs 58.3 +/- 9.0 ml/m2, p < 0.005) resulted in an 85% higher mass-to-volume ratio (2.4 +/- 0.52 vs 1.3 +/- 0.57, p < 0.0005). Stroke volume did not differ significantly, whereas ejection fraction was higher (80.4% +/- 6.5% vs 65.4% +/- 7.2%, p < 0.0005) in patients with HC. Although early diastolic filling fraction was smaller in patients with HC (61.0% +/- 22.8% vs 68.4% +/- 14.6%), the difference did not reach significance because of substantial variability. In patients with HC (in contrast to normal subjects) the time to maximal wall thickening was shorter (p < 0.025) in the hypertrophied basal region of the ventricle (223 +/- 42 msec) than in the apical region (267 +/- 35 msec), reflecting asynchrony between these regions. Additionally, in patients with HC the standard deviation of the time to maximal wall thickening in the basal region was significantly higher when compared with that of normal subjects (40.0 +/- 24 msec vs 16.9 +/- 17 msec, p < 0.0005), reflecting asynchrony even within one region. Thus magnetic resonance imaging can detect regional left ventricular asynchrony, an important cause of impaired diastolic function, in patients with HC and normal global systolic function.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Detection of regional left ventricular asynchrony in obstructive hypertrophic cardiomyopathy by magnetic resonance imaging. 812 8

Because dual-chamber (DDD) pacing has been shown to be of benefit regarding symptoms, rest and pacing hemodynamics, and exercise duration in patients with obstructive hypertrophic cardiomyopathy (HC), the effect of DDD pacing was assessed in patients with nonobstructive HC who were significantly symptomatic despite medical management. Echocardiography, treadmill exercise testing, thallium-201 scintigraphy, radionuclide angiography, and invasive measurement of rest and semi-erect bicycle exercise hemodynamics were performed in 12 patients before and approximately 4 months after permanent DDD pacing. One patient died 3 months after pacemaker implantation, because of worsening diastolic heart failure. Of the remaining 11 patients, 10 improved regarding symptoms, and treadmill exercise duration was longer during DDD pacing than during the baseline study in sinus rhythm (6.8 +/- 2.8 to 8.5 +/- 2.8 minutes; p < 0.01), with a significant increase in the peak double product achieved (28.9 +/- 6.1 to 31.0 +/- 6.8 x 10(3); p < 0.05). However, there were significant reductions in cardiac (3.7 +/- 0.9 to 3.1 +/- 0.5 ml/min/m2; p < 0.01) and stroke volume (47.4 +/- 11.4 to 38.7 +/- 6.5 ml/beat/m2; p < 0.01) indexes, and a trend toward reduction in submaximal stroke volume index during DDD pacing as compared with the baseline study in sinus rhythm (44.7 +/- 13.5 to 40.9 +/- 10.9 ml/beat/m2; p = 0.097). No change in peak heart rate, cardiac or stroke volume index, mean blood pressure, or pulmonary artery or pulmonary capillary wedge pressure occurred with peak exercise during DDD pacing as compared with the initial exercise study in sinus rhythm.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Results of permanent dual-chamber pacing in symptomatic nonobstructive hypertrophic cardiomyopathy. 814 3

Cardiodynamics and myocardial contractile reserve were studied in 60 patients with hypertrophic cardiomyopathy by using radionuclide ventriculography at rest and during graded exercise test. All findings that characterize cardiodynamics (normal or higher overall ejection fraction and stroke volume or lower end-systolic volume, higher maximum ejection rate) show the contractility of the left ventricle in patients with hypertrophic cardiomyopathy which can be regarded to be more severe. During graded exercise test, in patients with hypertrophic cardiomyopathy three types of reactions were identified: (1) positive inotropic effect; (2) negative inotropic effect; (3) intermediate (deviation of major cardiodynamic parameters was no more than 20-25% of the baseline levels). Identification of the above types allows one to assess the presence and conditions of myocardial contractile reserve implementation in these patients and to objectivize the choice of corrective drugs.
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PMID:[Cardiodynamics and myocardial contractile reserve in patients with hypertrophic cardiomyopathy]. 830 75


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