1/321. Rapid progression of cardiomyopathy in mitochondrial diabetes.Cardiac involvement and its clinical course in a diabetic patient with a mitochondrial tRNA(Leu)(UUR) mutation at position 3243 is reported in a 54-year-old man with no history of hypertension. At age 46, an electrocardiogram showed just T wave abnormalities. At age 49, it fulfilled SV1 RV5 or 6>35 mm with strain pattern. At age 52, echocardiography revealed definite left ventricular (LV) hypertrophy, and abnormally increased mitochondria were shown in biopsied endomyocardial specimens. He was diagnosed as having developed hypertrophic cardiomyopathy associated with the mutation. However, at age 54, SV1 and RV5,6 voltages were decreased, and echocardiography showed diffuse decreased LV wall motion and LV dilatation. Because he had mitochondrial diabetes, the patient's heart rapidly developed hypertrophic cardiomyopathy, and then it seemed to be changing to a dilated LV with systolic dysfunction. Rapid progression of cardiomyopathy can occur in mitochondrial diabetes.- - - - - - - - - - ranking = 1keywords = heart (Clic here for more details about this article) |
2/321. Effect of disopyramide on left ventricular pressure gradient in hypertrophic obstructive cardiomyopathy in comparison with propranolol--a case report.The effect of intravenous administration of disopyramide (total dose 100 mg, bolus 20 mg every 5 minutes) was compared with that of propranolol (total dose 10 mg, bolus 2 mg every 5 minutes) in a patient with hypertrophic obstructive cardiomyopathy. Left ventricular pressure gradient (LVPG) was assessed by continuous wave Doppler flowmetry. LVPG markedly decreased (97 to 16 mmHg), and preejection period (PEP) increased with an increase in heart rate (HR) during disopyramide injection. No changes were observed in LVPG and PEP, and a decrease occurred in HR during propranolol administration. These results indicate that disopyramide produced greater effects on the reduction of LVPG than propranolol, a negative inotropic agent, did.- - - - - - - - - - ranking = 1keywords = heart (Clic here for more details about this article) |
3/321. Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid.OBJECTIVES: The purpose of this study was to describe the clinical and molecular features of a large family with maternally inherited cardiomyopathy (MICM). BACKGROUND: Recently, several mitochondrial deoxyribonucleic acid (mtDNA) point mutations have been associated with MICM. However, the distinctive clinical and morphologic features of MICM are not fully appreciated. This is partially due to the small size of the reported pedigrees, often lacking detailed clinical and laboratory information. methods: Clinical and genetic analysis of the family was carried out. RESULTS: echocardiography showed mostly symmetrical hypertrophic cardiomyopathy in 10 family members. The illness had an unfavorable course. Progressive heart failure occurred in three subjects, who eventually died; one individual underwent heart transplantation. Electrocardiographic or echocardiographic signs of cardiac hypertrophy in the absence of significant clinical complaints were observed in five subjects. neurologic examination was normal. The mutation was detected in blood from all available subjects. Abundance of mutated molecules ranged between 13% and 100% of total mtDNA genomes. The severity of the disease could not be foreseen by the proportion of mutation in blood. CONCLUSIONS: This report contributes a better description of the clinical aspects of MICM and provides important clues to distinguish it from hypertrophic cardiomyopathy. We suggest that mtDNA mutations, particularly in the transfer ribonucleic acid for isoleucin, should be systematically searched in patients with MICM. The identification of an underlying maternally inherited mitochondrial dna defect in familial cases of cardiomyopathy may considerably influence the management and genetic counseling of affected patients.- - - - - - - - - - ranking = 2keywords = heart (Clic here for more details about this article) |
4/321. Hypertrophic cardiomyopathy in Friedreich's ataxia.The cardiac findings in two sibs with Friedreich's ataxia are described. The clinical signs were suggestive of hypertrophic obstructive cardiomyopathy. During left heart catheterization a systolic pressure gradient across the left ventricular outflow tract could be provoked by an infusion of isoprenaline. Left ventricular angiocardiograms and echocardiograms showed gross thickening of the interventricular septum. In one patient a systolic anterior movement of the anterior leaflet of the mitral valve was seen. The importance of serial echocardiographic examination for patients with Friedreich's ataxia is emphasized.- - - - - - - - - - ranking = 1.4284702837235keywords = heart, valve (Clic here for more details about this article) |
5/321. Pre- and postoperative echocardiographic features of discrete subaortic stenosis.In two patients with discrete membranous subaortic stenosis, partial early systolic closure of the aortic valve was noted on the preoperative record. Postoperatively, this abnormality was found to be less pronounced. Narrowing of the left ventricular outflow tract was seen in the preoperative tracing in each patient. Echocardiograms taken after resection of the subaortic membrane showed widening of the left ventricular outflow tract as compared with the preoperative tracing. Thus, echocardiography may be of value in distinguishing between discrete subaortic stenosis and other forms of left ventricular outflow tract obstruction.- - - - - - - - - - ranking = 0.42847028372353keywords = valve (Clic here for more details about this article) |
6/321. An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's disease.glycogen storage disease type ii (Pompe's disease) is a rare inherited metabolic disorder, which often leads to infantile death from severe cardiomyopathy. This case of sudden death illustrates the features of the cardiac findings in the disorder, resulting from massive lysosomal accumulation of glycogen in the heart and other tissues. Pompe's disease should be considered in cases of unexplained infantile cardiomyopathy.- - - - - - - - - - ranking = 1keywords = heart (Clic here for more details about this article) |
7/321. Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency.Glycogen storage disease confined to the heart due to cardiac phosphorylase kinase deficiency causes a fatal infantile cardiomyopathy. cardiomegaly can be detected in utero and is progressive. Electrocardiographic and echocardiographic findings are characteristic but not specific; these include large QRS complexes, short PR interval, and a hypertrophic nonobstructive pattern. Conclusive diagnosis requires biochemical analysis of myocardium, which may not be possible premortem due to the amount of tissue required. Pathologic examination of a standard cardiac biopsy can provide a presumptive diagnosis. There is no current treatment except a heart transplant. Infants succumb to heart failure and/or respiratory compromise due to pulmonary compression. This is a rare entity; only three cases have been reported to our knowledge. We report two additional cases.- - - - - - - - - - ranking = 3keywords = heart (Clic here for more details about this article) |
8/321. Myopathy in very-long-chain acyl-coa dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.A 30-year-old man suffered since the age of 13 years from exercise induced episodes of intense generalised muscle pain, weakness and myoglobinuria. fasting ketogenesis was low, while blood glucose remained normal. Muscle mitochondria failed to oxidise palmitoylcarnitine. Palmitoyl-CoA dehydrogenase was deficient in muscle and fibroblasts, consistent with deficiency of very-long-chain acyl-coa dehydrogenase (VLCAD). The gene of this enzyme had a homozygous deletion of three base pairs in exon 9, skipping lysine residue 238. fibroblasts oxidised myristate, palmitate and oleate at a rate of 129, 62 and 38% of controls. In contrast to patients with cardiac VLCAD deficiency, our patient had no lipid storage, a normal heart function, a higher rate of oleate oxidation in fibroblasts and normal free carnitine in plasma and fibroblasts. 31P-nuclear magnetic resonance spectroscopy of muscle showed a normal oxidative phosphorylation as assessed by phosphocreatine recovery, but a significant increase in pH and in Pi/ATP ratio.- - - - - - - - - - ranking = 1keywords = heart (Clic here for more details about this article) |
9/321. torsades de pointes in a case of hypertrophic cardiomyopathy with special reference to the pathologic findings of the heart including the conduction system.A clinicopathologic study was performed in a 77-year-old female with hypertrophic cardiomyopathy who had experienced recurrent syncopal attacks due to Torsades de Pointes (TdP) following QT prolongation and atrioventricular block. She died suddenly two years later while eating dinner. Pathologic findings of the heart showed a dilated and hypertrophied left ventricle. The heart weighed 550 g. There were two foci of localized endocardial fibroelastosis (EFE) beneath the aortic valve, one with a size of 3.5 x 3.5 cm, and the other (2 x 1 cm) located on the upper ventricular septum. Histologic findings showed hypertrophy and disarray in the left ventricular myocardium. The conduction system using serial sectioning revealed remarkable bilateral bundle branch fibrosis and hypertrophied purkinje fibers in the left bundle branch adjacent to the EFE on the ventricular septum. These findings were thought to be related to the occurrence of TdP.- - - - - - - - - - ranking = 6.4284702837235keywords = heart, valve (Clic here for more details about this article) |
10/321. Fixed left ventricular outflow tract obstruction in presumed hypertrophic obstructive cardiomyopathy: implications for therapy.BACKGROUND: A subset of patients presenting with a presumed diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) have a fixed left ventricular outflow tract (LVOT) obstruction. Recognition of this pathophysiologic abnormality is important in choosing therapy. methods: Of patients referred for treatment of HOCM, 4 had fixed LVOT obstruction. Clinical and echocardiographic data and surgical findings were reviewed. RESULTS: In the 4 patients with clinical features consistent with HOCM or HOCM-like conditions, echocardiography showed fixed LVOT obstruction with an early-peaking LVOT Doppler signal or absence of severe systolic anterior motion of the mitral valve. The causes of fixed obstruction included accessory mitral tissue with associated fibrous ring (1 patient), fixed subaortic tunnel stenosis (2 patients), and a discreet subaortic ridge (1 patient). After surgical relief of the fixed LVOT obstruction, all patients had relief of the ventricular outflow tract gradient. CONCLUSIONS: Not all patients with a presumed diagnosis of HOCM have isolated dynamic LVOT obstruction but may have isolated or additional fixed obstruction. Careful two-dimensional and Doppler echocardiography are needed to identify this subset of patients who are best treated surgically.- - - - - - - - - - ranking = 0.42847028372353keywords = valve (Clic here for more details about this article) |
| | Next -> |