1/590. A case of eosinophilic myocarditis complicated by Kimura's disease (eosinophilic hyperplastic lymphogranuloma) and erythroderma. This report describes a patient with eosinophilic myocarditis complicated by Kimura's disease (eosinophilic hyperplastic lymphogranuloma) and erythroderma. A 50-year-old man presented with a complaint of precordial pain. However, the only abnormal finding on examinatioin was eosinophilia (1617 eosinophils/microl). Three years later, the patient developed chronic eczema, and was diagnosed with erythroderma posteczematosa. One year later, a tumor was detected in the right auricule, and a diagnosis of Kimura's disease was made, based on the biopsy findings. The patient developed progressive dyspnea 6 months later and was found to have cardiomegaly and a depressed left ventricular ejection fraction (17%). A diagnosis of eosinophilic myocarditis was made based on the results of a right ventricular endomyocardial biopsy. The eosinophilic myocarditis and erythrodrema were treated with steroids with improvement of both the eosinophilia and left ventricular function. ( info) |
2/590. Antenatal diagnosis of Bart's hydrops fetalis [correction of homozygous alpha thalassemia]. A case report. OBJECTIVE: diagnosis of the Bart's hydrops fetalis [corrected]. METHOD: Bart's hydrops fetalis [corrected] was discovered by chance in the fetus of a female Chinese patient. Major intrauterine growth retardation, oligohydramnios, an immobile fetus, and cardiomegaly were the principal echographic signs. cordocentesis showed fetal anemia, and electrophoresis of fetal hemoglobin revealed the presence of Bart's hemoglobin. RESULT: As there is no known effective treatment, termination of pregnancy was proposed to the patient. CONCLUSIONS: Bart's hydrops fetallis [corrected] is a lethal condition. Early echographic signs (cardiothoracic index >0.50, placental thickening) can be screened during weeks 17-18 or even during weeks 13-14 of gestation. These signs would permit a reduction of invasive examinations in couples at risk. ( info) |
3/590. Right lateral transthoracic approach mimicking standard transesophageal echocardiographic views in a patient with giant left atrium. We describe the case of a patient with long-standing severe mitral periprosthetic regurgitation and a giant left atrium. The patient was referred for surgery. On the third postoperative day, after resuture of the dehiscence of the valve sewing ring, the patient complained of dyspnea. Transthoracic ultrasound examination was performed to eliminate pleural effusion. The severe right lateral displacement of an aneurysmatic left atrial cavity contacting with the thoracic wall allowed us to obtain excellent images of the posterior cardiac anatomy by a right lateral thoracic view. The new transthoracic approach made it possible to safely assess the atrial side of the mitral prosthesis, eliminating mitral regurgitation after surgery without transesophageal echocardiographic examination. ( info) |
4/590. Clinical manifestation and survival of patients with idiopathic bilateral atrial dilatation. We studied the histories of eight patients who lacked clear evidence of cardiac abnormalities other than marked bilateral atrial dilatation and atrial fibrillation, which have rarely been discussed in the literature. From the time of their first visit to our hospital, the patients' chest radiographs and electrocardiograms showed markedly enlarged cardiac silhouettes and atrial fibrillation, respectively. Each patient's echocardiogram showed a marked bilateral atrial dilatation with almost normal wall motion of both ventricles. In one patient, inflammatory change was demonstrated by cardiac catheterization and endomyocardial biopsy from the right ventricle. Seven of our eight cases were elderly women. Over a long period after the diagnosis of cardiomegaly or arrhythmia, diuretics or digitalis offered good results in the treatment of edema and congestion in these patients. In view of the clinical courses included in the present study, we conclude that this disorder has a good prognosis. ( info) |
5/590. Sudden death due to ventricular septal defect. Ventricular septal defects (VSD) are usually considered non-life-threatening, usually closing spontaneously or causing symptoms of congestive heart failure, which can be surgically treated in time to save the patient's life. Despite the usually benign clinical course of VSD, serious arrhythmias occur in 16-31% of patients. Sudden death accounted for one-third of all deaths in a series of medically managed patients and occurred in 4.2% of patients in a study of VSD and arrhythmias. Cardiac hypertrophy is the common denominator in all cases reported in detail of VSD-associated sudden death. We have encountered four cases of sudden unexpected death from VSD in infants ranging in age from 1 week to 3 and (1/2) months. In each case there was cardiomegaly and in one case there was pulmonary arteriolar medial thickening, with extension of smooth muscle into small intralobular vessels. In half of our cases the attending physician was sued for malpractice. We believe that VSD in infants and young children are potentially life-threatening malformations which warrant careful clinical follow-up. ( info) |
6/590. 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. ( info) |
7/590. 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. ( info) |
8/590. Extrauterine pelvic arteriovenous malformation mimicking the clinical presentation of structural heart disease. A case is reported of an extrauterine pelvic arteriovenous malformation involving branches of the internal iliac arteries. cardiomegaly and a rough cardiac murmur were the clinical presentations mimicking a structural heart disease. A continuous bruit could only be detected by the diaphragm of the stethoscope applied firmly to the left lower abdomen. Multiple blood samplings from inferior vena cava, and iliac and femoral veins for determination of oxygen saturation may be necessary for suspected cases. However, selective arteriography remains the best method for diagnosing the presence, extent, and multiplicity of the lesions before surgery or percutaneous arterial embolization. ( info) |
9/590. Neonatal marfan syndrome: a case report. A case of neonatal marfan syndrome is presented. The patient was noted to have cardiomegaly and tricuspid regurgitation on antenatal ultrasound scan. She was born with long, slender fingers and toes, an aged appearance and non-paralytic hypotonia. Echocardiogram revealed a dilated right atrium, right ventricle, dysplastic tricuspid valve and severe tricuspid regurgitation. She subsequently died of severe heart failure. Post-mortem examination showed the pathological features of lobar emphysema and cystic medial necrosis of the aorta. These features supported the diagnosis of neonatal marfan syndrome. Nucleotide sequencing showed substitution of G by A at codon 1032 in exon 25 located in the long arm of chromosome 15. This resulted in the substitution of a cysteine by a tyrosine. A de novo mutation is suggested by the absence of affected family members. ( info) |
10/590. A novel deficiency of mitochondrial ATPase of nuclear origin. We report a new type of fatal mitochondrial disorder caused by selective deficiency of mitochondrial ATP synthase (ATPase). A hypotrophic newborn from a consanguineous marriage presented severe lactic acidosis, cardiomegaly and hepatomegaly and died from heart failure after 2 days. The activity of oligomycin-sensitive ATPase was only 31-34% of the control, both in muscle and heart, but the activities of cytochrome c oxidase, citrate synthase and pyruvate dehydrogenase were normal. Electrophoretic and western blot analysis revealed selective reduction of ATPase complex but normal levels of the respiratory chain complexes I, III and IV. The same selective deficiency of ATPase was found in cultured skin fibroblasts which showed similar decreases in ATPase content, ATPase hydrolytic activity and level of substrate-dependent ATP synthesis (20-25, 18 and 29-33% of the control, respectively). pulse-chase labelling of patient fibroblasts revealed low incorporation of [(35)S]methionine into assembled ATPase complexes, but increased incorporation into immunoprecipitated ATPase subunit beta, which had a very short half-life. In contrast, no difference was found in the size and subunit composition of the assembled and newly produced ATPase complex. Transmitochondrial cybrids prepared from enucleated fibroblasts of the patient and rho degrees cells derived from 143B. TK(-)human osteosarcoma cells fully restored the ATPase activity, ATP synthesis and ATPase content, when compared with control cybrids. Likewise, the pattern of [(35)S]methionine labelling of ATPase was found to be normal in patient cybrids. We conclude that the generalized deficiency of mitochondrial ATPase described is of nuclear origin and is caused by altered biosynthesis of the enzyme. ( info) |