Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An increased prevalence of mitral-valve prolapse occurs in several connective tissue dysplasias, including Marfan syndrome, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum. We evaluated 57 patients diagnosed as having the Stickler syndrome for mitral-valve prolapse by auscultation and two-dimensional echocardiography. The diagnosis was made on the basis of craniofacial and musculoskeletal abnormalities, sensorineural hearing loss, eye defects, and a family history of Stickler syndrome. Twenty-six patients (45.6%) had mitral-valve prolapse, including 11 of 22 females (50.0%) and 15 of 35 males (42.9%). The age range of our study population was 4 to 60 years. Prevalence of mitral-valve prolapse did not increase with age. Nine patients (34.6% of those with mitral-valve prolapse) had the click-murmur syndrome; only one of them was symptomatic. Because of the growing list of complications associated with mitral-valve prolapse, all patients with Stickler syndrome should be evaluated by auscultation, electrocardiogram, and echocardiography. Those with mitral-valve prolapse should be advised to have periodic follow-up and to instruct physicians caring for them of their need for antibiotic prophylaxis with certain surgical procedures.
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PMID:Prevalence of mitral-valve prolapse in the Stickler syndrome. 372 60

Previous studies have shown an association of sickle cell disease with generalized connective tissue disorders such as pseudoxanthoma elasticum. We recently documented an unexpectedly high prevalence of mitral valve prolapse, a connective tissue disorder, in sickle cell disease. To investigate this association, skin biopsies were analyzed from 32 sickle cell disease patients, 11 of whom had mitral prolapse. Total and type III collagen, collagen solubility, and uronic acid were not different between the patients with or without mitral prolapse (p greater than 0.05). Computerized morphometric quantitation of the volume fraction of elastic fibers was greater in sickle cell disease patients than in 10 normals (3.1 +/- 0.1 mean +/- SEM vs 2.0 +/- 0.3%; p less than 0.01) but less than in three patients with pseudoxanthoma elasticum (9.7 +/- 0.6%; p less than 0.001). Desmosine radioimmunoassay (an index of elastic fibers) was greater in sickle cell disease patients with mitral prolapse than those without (239.3 +/- 9.3 vs 171.7 +/- 25.4 ng/mg wet weight; p less than 0.02). Histopathologic grading showed a similar trend (p = 0.07). The combined probabilities of these three independent tests of elastic fiber quantity showed an increased elastic fiber concentration in mitral prolapse patients compared to those without mitral prolapse (p less than 0.02). Thus, there is no evidence for a specific collagen defect; rather, sickle cell disease appears to be associated with a spectrum of elastic tissue disorders, a feature that could predispose to mitral valve prolapse.
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PMID:Mitral valve prolapse in sickle cell disease: manifestation of a generalized connective tissue disorder. 398 3

The purpose of this study was to demonstrate the special features of cardiovascular effects in connective tissue disorders through a group of fifteen cases observed over a period of ten years. The group consisted of eleven cases of Marfan syndrome (or Marfan-like syndrome), two cases of pseudoxanthoma elasticum and two cases of Ehlers-Danlos disease. The cardiovascular lesions were as follows: 1) dissection of the ascending aorta which was confirmed and had been treated surgically in 2 cases; 2) aneurysmal dilatation of the ascending aorta in 5 cases; 3) moderate mitral valve prolapse, which was isolated in 2 other cases; 4) distention of the mitral valve in 2 cases; 5) mitral valve prolapse combined with tricuspid valve prolapse in 1 case; the mitral incompetence was severe and made it necessary to carry out mitral valve replacement; 6) moderate aortic valve prolapse combined with tricuspid prolapse in a case of type-I Ehlers-Danlos disease; 7) Fallot's tetralogy combined with Marfan's syndrome and treated surgically in one case; 8) severe hypertension with abnormalities of the iliac and renal arteries in one case of elastic pseudoxanthoma elasticum. In three cases complications occurred leading to death, extension of the dissection of the abdominal aorta and global recalcitrant heart failure respectively. The outcome in the other 12 cases, with a mean follow-up time of 3 and one half years (range: 3 years to 7 years) was not marked by complications.
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PMID:[Cardiovascular manifestations of hereditary dysplasias of connective tissue]. 851 93

A child with pseudoxanthoma elasticum had mitral valvar prolapse with severe regurgitation necessitating replacement with a prosthetic valve. Extensive formation of pannus caused obstruction of two mechanical valves, one after twenty months and the second after three years. Histology of the pannus was similar to the endocardial lesions that are considered unique to pseudoxanthoma elasticum.
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PMID:Formation of pannus on prosthetic valves in a child with pseudoxanthoma elasticum. 1201 27

Congenital cutis laxa is a rare generalized inherited elastosis, characterized by the appearance of premature aging and skin laxity with mild to severe systemic anomalies. Ocular manifestations include excess skin in the eyelids, ptosis and lower lid ectropion. Of the hyperelasticity syndromes - Ehlers Danlos, Pseudoxanthoma elasticum and cutis laxa - only cutis laxa has normal skin wound healing. The diagnosis must therefore be established before surgical options for treatment are considered. We report an unusual case of a 5-month-old male child with cutis laxa who presented with upper lid entropion secondary to severe redundant upper eyelid skin. An anterior lamellar repositioning procedure successfully corrected the lid margin malposition with complete relief of symptoms.
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PMID:Surgical correction of entropion and excess upper eyelid skin in congenital cutis laxa: a case report. 1204 99