Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of mitral stenosis with left atrial thrombus which rapidly arose and reduced within a month was reported. A 61-year-old female was admitted to our hospital on November 14, 1986 because of a syncopal attack due to ventricular tachycardia. On admission she had typical auscultatory signs of mitral stenosis, mild hepatomegaly and no neurological abnormality. Laboratory findings included coagulation studies were normal, and atrial fibrillation was noted on ECG. Heart catheterization revealed low cardiac output, the mitral orifice area to be 2.4 cm2 and left ventriculography showed mild mitral regurgitation. Ventricular tachycardia was controlled following improvement of heart failure. On two-dimensional echocardiography performed on December 24, left atrial thrombus was revealed which was not detected on December 3. Through the continuous administration of warfarin and aspirin to prevent the thrombus' growth, it markedly reduced in size, from 3 x 2 x 4.5 cm on December 24, 1986 to 1.5 x 1 x 2.5 cm on January 30, 1987 without systemic embolism. Then a mitral valve replacement and a left atrial thrombectomy were performed on February 3, with the removal of a red thrombus, partially organized, measuring 1 x 0.7 x 2.5 cm. This case is unique in its clinical outcome and further investigation is necessary for the management of patients as our case.
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PMID:[A case of mitral stenosis with left atrial thrombus arose and reduced in a short-term]. 266 32

Rheumatic mitral valve disease is not infrequently associated with tricuspid regurgitation (TR). To determine the fate of TR following closed mitral valvotomy (CMV), we examined the records of 23 patients with variable degrees of TR and significant mitral stenosis (MS). Based on angiocardiographic assessment of TR, patients were divided into two groups: group 1 (15 patients) had mild-to-moderate TR, while group 2 (eight patients) had severe TR. After valvotomy, dyspnea lessened in all patients. Right ventricular (RV) failure signs (jugular venous distension and hepatomegaly) and the amounts of diuretics used diminished in 12 of 15 patients in group 1. Group 2 patients showed insignificant improvement at one-year follow-up period. Cardiac recatheterization was performed in four of group 2 patients three to five years later primarily for persistence of RV failure signs. The mitral valve areas varied from 1.4 to 2.7 cm2. There was mild mitral regurgitation in two patients. There was no deterioration of the left ventricular ejection fraction, but TR was at least moderate in all cases.
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PMID:Fate of tricuspid regurgitation after closed valvotomy for mitral stenosis. 406 76

A 25-year-old man was admitted to Juntendo University Hospital with chief complaints of nocturnal dyspnea and shortness of breath on Sept. 22, 1983. He had no history of rheumatic fever or bacterial endocarditis. He was violently kicked in the chest while practicing Shorinji-Kempo (Karate) in July 1977. His heart murmur was first noticed in April 1978, but he was asymptomatic for six years after the accident until transient nocturnal dyspnea developed January 1983. Physical examination on admission revealed a grade 4/6 apical holosystolic murmur, a markedly accentuated third sound, and hepatomegaly of two finger breadth in the right midclavicular line. An electrocardiogram revealed sinus tachycardia (100/min), left atrial overload and left ventricular hypertrophy. Chest radiography showed slight cardiac enlargement with a cardiothoracic ratio of 55%, and slightly increased pulmonary vascular markings. Two-dimensional echocardiography showed a markedly prolapsed posterior mitral leaflet and fluttering in diastole. Cardiac catheterization showed elevated pressure of pulmonary capillaries (a: 16, v: 30, mean: 19 mmHg), the pulmonary artery and the right ventricle. Left ventriculography revealed grade four (Sellers) mitral regurgitation. Mitral valve replacement was performed on October 13, 1983. A chorda tendinae supporting the posterior leaflet of the mitral valve was found to be ruptured just above its origin from the posterior papillary muscle. Histological examination of the resected valve showed increased spongiosa tissue which mimicked so-called myxomatous changes, but it seemed preferable to interpret this as a "secondary change due to increased hemodynamic stress" rather than the "primary change".
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PMID:[Traumatic mitral insufficiency: a case report]. 406 43

Niemann-Pick Disease (NPD) is a heterogeneous group of autosomal recessive disorders characterized by progressive accumulation of sphingomyelin and cholesterol in lysosomes. Six types of NPD have been described based on clinical presentation and involved organs. The primary defect in NPD types A and B is a deficiency of lysosomal acid sphingomyelinase (ASM). We present a case of a 5-year-old boy with type B NPD who had severe clinical manifestations, including heart involvement. He was first admitted to the hospital at 2 months because of vomiting, refusal to feed, lethargy, hepatomegaly and mild transaminasaemia. Liver biopsy at 12 months showed lipid accumulation and fibrosis. Investigations for lysosomal storage disorders revealed increased plasma chitotriosidase (549 nmol/h per ml, normal value 0-150). At 18 months, no detectable ASM activity was observed in cultured fibroblasts (normal range 23-226 nmol/h per mg protein) confirming NPD B. Pulmonary involvement was detected with high-resolution computerized tomography which revealed reticulonodular infiltrations and thickening of the interlobular septa. At 2 years growth retardation and kyphosis were noted. At 2.5 years he manifested neurodevelopment regression, indicating CNS involvement. Cardiac involvement (grade III mitral valve insufficiency) developed at 4 years and heart failure at 5 years. Genetic analysis revealed two mutations: a H421Y mutation that is common in Saudi Arabian and Turkish patients, and a W32X mutation, which has been found in other Mediterranean patients.
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PMID:Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. 1787 23

We present a 3-year-old boy affected with Hunter syndrome. When we first evaluated the patient glycosaminoglycans (GAG) in urine were elevated (94.6 ng/nmol/creatinine); the enzyme activity determined in serum was decreased (3.9 nmol/hxml) and the mutation found was N350H, exon 8. His clinical signs were coarse facial features, hepatomegaly (6 cm), splenomegaly (6 cm), elbow stiffness and hypospadias; dilatation of the perivascular spaces and white matter abnormalities, mitral regurgitation. After two weeks on enzyme replacement therapy (ERT) with idursulfase (IDS), the excretion of GAG was decreased to 36.2 ng/nmol/creatinine and the liver and spleen volumes were reduced to normal limits. He was subsequently noted to have a softer, finer skin, he had no further bouts of bronchitis, and his physical activity improved. This indicates that IDS in young children is well tolerated and that it has several effects which may confer clinical benefits with long-term therapy.
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PMID:Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome. 1839 23

There are so far only a few reported cases of acute fulminant hepatic failure resulting from acute cardiomyopathy. This is a rare occurrence, especially in patients that do not exhibit any signs and symptoms of acute cardiac decompensation. We report a case of fulminant liver failure with nondiagnostic work up for the common causes of liver failure. This patient had concurrent history of congestive heart failure, but did not have acute decompensation. Right upper quadrant sonogram revealed hepatomegaly of 15 cm, trace amount of perihepatic ascites, pericholecystic fluid, and also thickened edematous gallbladder wall with no stones, no common bile duct stones, and no portal vein thrombosis. Echocardiogram revealed dilated left atrium and ventricle, severe mitral regurgitation, severe tricuspid regurgitation, grade 4 diastolic dysfunction, diffuse hypokinesis of left ventricle, and severely and newly reduced systolic function with an ejection fraction of 10 percent (decreased from 25 percent on last ECHO 18 months prior). Liver biopsy demonstrated marked centrilobular hepatocyte necrosis and dropout accompanied by congestion, some areas of bridging necrosis and focal confluent necrosis which was suggestive of severe congestive hepatopathy. With initiation of heart failure medications, liver function improved significantly.
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PMID:A Case of Fulminant Hepatic Failure Secondary to Congestive Heart Failure Without Evidence of Acute Cardiac Decompensation. 2881 31