Cases reported "Cardiomegaly"

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1/106. Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy.

    A case of cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy is reported. The diagnosis was obtained by biventricular endomyocardial biopsy showing severely hypertrophied myocardiocytes with large periodic acid-Schiff and sudan black positive perinuclear vacuoles, shown at electromicroscopy to consist of lamellated cytoplasmic figures highly suggestive of Fabry's disease, and confirmed by diagnostic low activity of alpha-galactosidase A in the peripheral lymphocytes. Invasive approach was suggested by the occurrence of a long-standing atrial fibrillation that failed to determine deterioration of cardiac function. Differential diagnosis between hypertrophic cardiomyopathy and the cardiac variant of Fabry's disease is relevant for prognostic and therapeutic implications including the perspective of an enzyme replacement therapy.
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ranking = 1
keywords = cardiomyopathy
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2/106. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome.

    Cantu syndrome (hypertrichosis, osteochondrodysplasia, cardiomegaly) is a rare condition, previously reported in 13 patients. We report on two additional patients with this disorder. One of the patients had pulmonary hypertension of unknown cause which was responsive to steroid therapy. She also had unusual, deep plantar creases, not reported previously in Cantu syndrome. Autosomal recessive inheritance has been suggested previously on the basis of sib recurrence in one family and consanguinity in another. We have performed a segregation analysis based on all reported families to date; the data indicate autosomal recessive inheritance is unlikely. A new dominant mutation or microdeletion syndrome are more likely possibilities, sib recurrence possibly representing gonadal mosaicism.
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ranking = 0.0091308250394902
keywords = dysplasia
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3/106. Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years.

    To elucidate the clinical characteristics of aged patients with Becker muscular dystrophy (BMD), 4 patients with this disease who were over 50 years were examined. The ages at onset in all patients were later than 30 years. All were proven to have a deletion around exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. Two patients became wheelchair bound in their 40s or beyond, while the other 2 (aged 73 and 69, respectively) were still able to walk at the time of examination. Three of 4 patients had no obvious hypertrophy in their calves, which is known to be one of the characteristic clinical features in the juvenile BMD patients. serum creatine kinase levels were elevated in all patients, but not markedly (mean 444.8 /- 230.3 U/l; normal value < 180 U/l). Dilated cardiomyopathy was clinically apparent in 2 patients. We emphasize that some BMD patients are free of muscular symptoms until their 50s and are still self-supporting in their 60s or 70s.
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ranking = 0.16666666666667
keywords = cardiomyopathy
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4/106. Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantu syndrome): a new case with unusual radiological findings.

    We report on a new case of a syndrome first described by Cantu et al. [1982: Hum Genet 60:36-41] comprising congenital hypertrichosis, "coarse" facial appearance, and mild osteochondrodysplasia. Our case has some unusual radiological findings, namely proximal and distal megaepiphyses of long bones and advanced bone age.
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ranking = 0.0091308250394902
keywords = dysplasia
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5/106. Autosomal dominant inheritance in Cantu syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

    Cantu syndrome (CS) is characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and coarse facial appearance; autosomal recessive inheritance has been postulated. We report on a Mexican family with CS; the affected members are the 44-year-old father and his two children (a male and female), aged 14 and 4 years, respectively; each shows the classic characteristics, but the father and the brother also have a previously unreported feature, namely, a thick calvarium. This is the first reported instance of male-to-male transmission of CS. With the paternal age effect found in the reported sporadic cases and the segregation analysis [Robertson et al., 1999], autosomal dominant inheritance is more likely than autosomal recessive inheritance. The cases of affected sibs reported by Cantu et al. [1982] could be explained by parental gonadal mosaicism.
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ranking = 0.0091308250394902
keywords = dysplasia
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6/106. Congenitally unguarded tricuspid valve orifice with a giant right atrium and a massive clot in an asymptomatic adult.

    Congenitally unguarded tricuspid valve orifice, a variant of tricuspid valve dysplasia, is a rare malformation with protean manifestations. This report describes an asymptomatic adult who, on echocardiographic examination ordered in view of an abnormal 12-lead surface electrocardiogram and plain chest X-ray, was found to have an unguarded tricuspid valve orifice with a giant right atrium (12 x 10 cm), intense spontaneous echo contrast and a large right atrial clot.
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ranking = 0.001826165007898
keywords = dysplasia
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7/106. The initial Trinidad experience with Cine MRI in clinical cardiology.

    We describe the initial Trinidad experience with magnetic resonance imaging (MRI) and Cine MRI as a diagnostic tool in clinical cardiology. Six patients from the following categories were referred for Cine MRI evaluation: congenital heart disease, valvular heart disease, aortic diseases, cardiomyopathy and intracardiac mass. All patients underwent echocardiography. MRI and Cine MRI were performed on all patients using a Siemens Magnetom 1.0 Tesla MR system at MRI trinidad and tobago Ltd. Selected patients underwent angiography and/or computed tomography (CT) scanning. Clinical data and images of the six patients evaluated are described. MRI and Cine MRI provided excellent anatomical and functional details of the heart and aorta in five patients with dissection of the aorta, aneurysm of the ascending aorta, suspected left ventricular apical thrombus, infiltrative cardiomyopathy and arrhythmogenic right ventricular dysplasia. Technical difficulty was experienced with one patient who had a congenital defect (common atrium). In this study, Cine MRI provided excellent images in all but one patient. This new noninvasive technique enhanced diagnostic capabilities and facilitated management in patients with certain cardiovascular diseases.
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ranking = 5.9342289072865
keywords = ventricular dysplasia, right ventricular dysplasia, arrhythmogenic right ventricular dysplasia, arrhythmogenic, arrhythmogenic right, cardiomyopathy, dysplasia
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8/106. Further case of Cantu syndrome: exclusion of cryptic subtelomeric chromosome aberrations.

    Cantu syndrome consists of hypertrichosis, osteochondrodysplasia, and cardiomegaly, and has been reported in 18 patients to date. We report an infant with Cantu syndrome. In addition to typical findings, he had relatively mild radiological and cardiological manifestations. Previously undescribed findings included pyloric stenosis and elevated alkaline phosphatase levels. brain scans showed bilateral calcification of the Arteriae thalamostriatae and widening of the outer liquor spaces and lateral ventricles. Because the propositus is the youngest patient reported to date, our findings refine the clinical spectrum of Cantu syndrome in neonates and young infants. The etiology and mode of inheritance of Cantu syndrome are unknown. Most cases are sporadic. Microdeletions have been discussed as a possible cause of Cantu syndrome. Recently, several syndromes with multiple congenital anomalies and mental retardation have been shown to be caused by subtelomeric chromosome aberrations. We excluded the presence of a cryptic subtelomeric chromosome anomaly in our patient by fluorescence in situ hybridization (FISH) screening with locus-specific probes.
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ranking = 0.001826165007898
keywords = dysplasia
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9/106. Severe heart failure from light chain cardiomyopathy (cardiac amyloidosis).

    Primary (AL)amyloidosis is characterized by clonal production of immunoglobulin with subsequent deposition in several organs. We describe the clinical features of a 66-year old female who was referred to our department for congestive heart failure. One year before, she was examined and found to have diastolic dysfunction of the left ventricle. We could evaluate the diagnosis of primary amyloid cardiomyopathy by echocardiography, doppler echocardiography and laboratory findings and confirmed the diagnosis by biopsy of the rectum mucosa. Clinical outcome was poor, because therapy is poor.
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ranking = 0.83333333333333
keywords = cardiomyopathy
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10/106. A rare case of alstrom syndrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography.

    alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, and obesity; with diabetes, and hepatic and renal dysfunction later on in life. Since the first description of the syndrome in 1959, there have been fewer than 100 reported cases in the world. We report a case of a 7-month-old girl whose initial presentation of alstrom syndrome was a rapidly progressive severe dilated cardiomyopathy, diagnosed by echocardiography. Unique characteristics of the cardiomyopathy in alstrom syndrome and the important role of echocardiography in alstrom syndrome and other genetically transmitted disorders, especially with known cardiovascular manifestations, is discussed.
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ranking = 1.1666666666667
keywords = cardiomyopathy
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