Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The indications for endomyocardial biopsy were evaluated from 116 consecutive cases. The diagnostic value of this invasive but well tolerated procedure was in agreement with data from the literature. An accurate diagnosis, unforseeable in 8% of the patients, was established in 12%. The diagnosis of apparently primary myocardiopathy with ventricular dilatation was confirmed in 45 out of 59 cases; there were 3 cases of myocarditis, 3 cases of restrictive cardiopathy (haemochromatosis, fibroplastic endocarditis) and 1 case of hypertrophic cardiopathy. No tissue abnormality was noted in 6 cases. An accurate diagnosis was obtained by biopsy in 1 case of "eosinophilic lung" without overt cardiac involvement. In malignant diseases treated with anthracyclines in doses reaching maximal theoretical total dosage (30 patients), severe tissue lesions were present in 10% of the cases, incipient haemochromatosis in 16.6% and subendocardial fibrosis in 3.3%. However, total doses of up to 600 mg/m2 could be administered to 90% of the patients. Myocardial lesions could be demonstrated in 1 of 2 patients with collagen disease. Endomyocardial biopsy therefore seems to be justified in myocardiopathies with ventricular dilatation, in some collagen diseases with a tendency to cardiac involvement and to monitor treatment with anthracyclines in total doses higher than the theoretical maximum dosage.
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PMID:[Right intraventricular biopsy. Indications and results. 116 cases]. 315 91

Peripheral pulmonary stenosis is frequently associated with congenital heart disease and seen in childhood. It is rather rarely discovered in adult patients. In adults, however, it is detected as an isolated congenital deformity or as part of generalized congenital cardiovascular disease and may also be caused by collagen disease. The chest x-ray and nuclear scan demonstrate the condition, but pulmonary angiography is essential for positive confirmation.
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PMID:[Radiological diagnosis of peripheral pulmonary stenosis (author's transl)]. 644 5

A 60-year-old man presented with sudden palpitations in September 1993, and was admitted to hospital with a diagnosis of atrial fibrillation and heart failure. The patient was suspected of having collagen disease, because of a positive test for antinuclear antibodies and a high sedimentation rate. He was referred to lou hospital. Chest radiographic findings were suggestive of cardiomegaly and cardiac murmurs were audible, which indicated the presence of heart disease. A chest Ct scan revealed a lesion surrounding the intramediastinal large vessels and the heart from the level of the confluence of the left brachiocephalic vein and the superior vena cava. Suspicion of a mediastinal tumor led the patient to be admitted to the respiratory department. Percutaneous needle biopsy with a Trucut needle revealed non-specific chronic inflammation. An abdominal CT scan showed that the lesion surrounding the descending aorta traversed the diaphragm, reached the renal pelvis along both renal arteries, and caused narrowing of the ureter and left hydronephrosis. Based on these findings, retroperitoneal fibrosis was diagnosed. Treatment with steroids caused the lesion to shrink.
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PMID:[Retroperitoneal fibrosis with involvement up to the mediastinal space]. 877 75

The role of the cardiac catheterization for diagnosis and treatment of pulmonary hypertension (PH) is very important. When mean pulmonary artery pressure increased more than 25 mmHg, then PH is defined. But this is measured accurately only by the catheterization. And we can discriminate the etiology of PH clearly by pulmonary capillary wedge pressure (Ppcw) or intra-cardiac shunt (L to R) by blood oxygen saturation step-up, and both parameters are obtained by this method. The etiology of PH is diagnosed as left sided heart failure, if Ppcw is increased more than 13 mmHg. PH is produced by congenital heart disease (ASD, VSD, PDA etc.), when the oxygen saturation step-up is recognized. And PH is induced by any pulmonary disease or pulmonary thrombo-embolism or collagen disease or liver cirrhosis or PPH, if Ppcw is normal and no oxygen step-up is recognized.
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PMID:[The role of cardiac catheterization for diagnosis and treatment of pulmonary hypertension]. 1141 Nov 19

A 51-year-old woman suffering from dyspnoea and refractory bilateral pleural effusions is discussed. The effusion was characterized as a transudate and cardiac decompensation and renal insufficiency were initially suspected. Diuretic agents were not effective and the patient required bilateral chest water-sealed drainage tubes for 4 months, after exclusion of neoplastic infiltration, collagen disease and other cardiac disorders. On echocardiogram, cardiac function and other findings were almost normal, except for shortening of deceleration time in transmitral flow velocity. To evaluate the reduced diastolic compliance, cardiac catheterization was performed, and revealed an elevated pressure in the right ventricle with a dip-and-plateau pattern, and constrictive pericarditis was diagnosed. The hydrothorax resolved after pericardiectomy and symptoms were alleviated. Three and a half years after surgery, the patient is well and taking only oral diuretics. The underlying mechanism of cardiac disorder appears to have been mixed restriction and constriction due to irradiation of her chest for breast cancer 13 years ago. Because the echocardiogram was within normal limits, the diagnosis was delayed. Radiation-induced constrictive pericarditis should be considered if there is an unexplained transudate effusion with a normal echocardiogram.
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PMID:A case of refractory bilateral pleural effusion due to post-irradiation constrictive pericarditis. 1242 Dec 46

We report a 32-year-old female with eating disorder whose body weight was only 20 kg. She was admitted to the hospital with severe low nutrition, low proteinemia, liver dysfunction, hypokalemia and hypoglycemia. On the third hospital day, she had a high fever and Campylobacter fetus subsp. fetus (C. fetus) was isolated from the blood. After treatment with meropenem (1 g/day) intravenous drip injection, her condition improved. C. fetus sepsis is not common disease in Japan. A review of 37 cases of this disease in Japan revealed that the age range of adult patients was 20 to 60 years old. The male-to-female ratio was 4.6 to 1.0. Seventy-eight percent of the patients had underlying diseases which were composed of 11 patients with liver disease, 6 patients with blood dyscrasia and some with diabetes mellitus, heart disease, other malignant tumor and collagen disease. There was no case with eating disorder. All apparent sources of infection in Japan originate from eating raw food. Gastrointestinal symptoms were observed in only 16% of the patients. Recent recommendations for the treatment of C. fetus sepsis are to use gentamicin, imipenem and meropenem. Some strains of C. fetus have resistance to erythromycin, ciprofloxacin. The mortality of this infection is 14% in Japan.
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PMID:[Campylobacter fetus subsp. fetus sepsis: a case report and review of the literatures in Japan]. 1510 97

We report two cases of heterozygous Fabry disease with severe organ damage. Case 1 was a 47-year-old woman. In April 1977, at the age of 27 years, she had proteinuria and edema around the 26th week of her second pregnancy and was diagnosed as toxicosis of pregnancy. She had proteinuria after the delivery. In 1990, a renal biopsy showed zebra bodies under electron microscopic findings, and the patient was diagnosed as Fabry disease. In 1998, a myocardial biopsy showed identical findings. The patient developed severe hypertension and decreased renal function, and alpha-galactosidase enzyme replacement therapy was initiated. However, despite treatment, she was started on dialysis in 2004. Case 2 was a 40-year-old woman. In March 2003, the patient presented with severe hypertension. The patient had cerebral infarction, cardiac hypertrophy, old myocardial infarction and renal failure without diabetes mellitus, hyperlipidemia and collagen disease. The patient was diagnosed as Fabry disease from persistent numbness and pain in the four extremities, a family history of mortality due to heart disease, and skin biopsy findings. She is currently undergoing enzyme replacement therapy. It is generally known that female Fabry disease patients are asymptomatic or mildly symptomatic, as were the present two patients, but some can have marked organ disorders. Hence, even in female patients, it is necessary to consider Fabry disease as a causative disease of chronic renal failure.
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PMID:[Two cases of heterozygous Fabry disease]. 1691 64

Pulmonary hypertension is characterized by progressive involvement of the pulmonary vessels that leads to increased vascular resistance and consequently to right ventricular failure. Vascular lesions are a common factor in a wide spectrum of diseases, and their result, pulmonary hypertension, is a severe clinical condition with a poor prognosis that worsens the normal course of the diseases to which it is associated (COPD, collagen disease, sarcoidosis, and congenital or acquired heart disease). It is important for pulmonary hypertension to be diagnosed as early as possible because nowadays drugs can reduce mortality and improve the quality of life; furthermore, some types of pulmonary hypertension (e.g., chronic thromboembolism and those associated with some congenital heart diseases like left-to-right shunt) can be treated surgically. In cases of suspected pulmonary hypertension, imaging methods can confirm the diagnosis, suggest a cause, help choose the most appropriate treatment, and monitor the response to treatment. This review describes the approach to pulmonary hypertension using different imaging techniques; special emphasis is given to the role of multidetector CT (MDCT), which makes it possible to study all the organs in the thorax in a single acquisition. We review the radiological signs of pulmonary hypertension and the current (Dana Point) radiological criteria for classifying the type of hypertension based on alterations in the lung parenchyma, mediastinum, pleural spaces, and pericardium, as well as on the study of the chambers of the heart.
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PMID:[Pulmonary hypertension: the contribution of MDCT to the diagnosis of its different types]. 2092 8