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)

Congenital pulmonary lymphangiectasia is a rare abnormality with dilatation of pulmonary lymphatics and the radiological pattern of a pulmonary interstitial syndrome. It is usually symptomatic at birth and is almost always lethal. We report the case of an infant with congenital pulmonary lymphangiectasis and congenital heart disease who is still alive at 11 years. This case is interesting from the pathogenic, nosologic and prognostic point of view.
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PMID:Diffuse pulmonary lymphangiectasis with heart defect discovered 4 months post-natally. 156 Sep 93

Congenital pulmonary lymphangiectasia is a rare abnormality with dilatation of pulmonary lymphatics and the radiological pattern of a pulmonary interstitial syndrome. It is usually symptomatic at birth and is almost always lethal. The authors report the case of an infant with congenital pulmonary lymphangiectasis and congenital heart disease who is still alive. This case report is interesting from the pathogenic, nosologic and prognostic point of view.
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PMID:[Diffuse pulmonary lymphangiectasia of late disclosure associated with cardiopathy]. 650 94

We report a very rare constitutional interstitial deletion of chromosome 1p defined within 1p34.3-36.11 bands with an intact pter. The diagnosis was made by standard cytogenetics and fluorescence in situ hybridization (FISH) studies on a cordocentesis specimen obtained at 21 weeks gestation. Termination of pregnancy was performed at 22 weeks gestation due to the ultrasound diagnosis of congenital heart disease. Autopsy confirmed congenital heart disease (cardiomegaly, Ebstein's anomaly, secundum atrial septal defect, subendocardial fibroelastosis), pulmonary lymphangiectasis, a high arched palate, short neck, and bilateral long proximally implanted thumbs. To our knowledge, this is the first case of del(1) (p34.3p36.11) diagnosed prenatally.
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PMID:A rare case of interstitial del(1)(p34.3p36.11) diagnosed prenatally. 1609 36

Pulmonary vein stenosis is a rare progressive narrowing of the extrapulmonary pulmonary veins, presenting predominantly in infancy and virtually always lethal. It typically arises following repair of congenital heart disease, particularly anomalous pulmonary venous return. Histologic characterization of pediatric pulmonary vein stenosis, not previously well described, may provide insight into the disease pathobiology. We retrieved archival lung specimens (biopsy, explant, or autopsy) from patients with pediatric pulmonary vein stenosis. Medical records were reviewed. Microscopic examination included hematoxylin and eosin (H&E)-stained slides, and for a subset of patients, elastic, trichrome, smooth-muscle actin, and D2-40. Groups with different clinical disease features were compared using Fisher's exact test. A total of 33 patients (median age, 7 months) had available tissue and 52% had congenital heart disease; 18% were premature. Within the lungs, interlobular septal veins showed thickened muscular coats (in 58%), proliferation/tortuosity (in 6%), and fibromyxoid intimal proliferation (in 3%). Associated arterial hypertensive changes were seen in 30 (91%). The one patient with intrapulmonary venous fibromyxoid intimal proliferation was the only patient with apparent primary familial disease. Lymphangiectasia and arterial medial hypertrophy were histologic features that correlated with clinical grouping. We conclude that in pediatric pulmonary vein stenosis, intrapulmonary pulmonary veins commonly show muscular thickening, best interpreted as venous hypertensive remodeling. Fibromyxoid intimal proliferation resembling that of the extrapulmonary pulmonary veins is uncommon. Awareness of intrapulmonary features in various clinical subtypes of pulmonary vein stenosis may be diagnostically and therapeutically informative considering that current catheter-based and surgical therapy is directed at the extrapulmonary component of pulmonary vein stenosis.
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PMID:Lung Pathology in Pediatric Pulmonary Vein Stenosis. 2645 37