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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Echocardiographic and phonocardiographic findings in 35 patients with Marfan's Syndrome and ten patients without Marfan's or other clinically apparent connective tissue disorders but with angiographic and echocardiographic evidence of mitral prolapse are reported and compared. Echocardiography revealed aortic root dilatation and/or mitral valve prolapse in 97% of the patients with Marfan's Syndrome. Aortic root dilatation was found in 60% of this group (74% of males, 33% of females) while mitral valve prolapse was found in 91% (87% of males, 100% of females). The incidence of aortic dilatation and mitral prolapse in patients with Marfan's syndrome was essentially equal in children and adults of the same sex. None of the nine adults or one child with mitral prolapse but without evidence of Marfan's Syndrome or other clinically apparent connective tissue disorder had aortic root enlargement. Ausculatory examination and phnocardiography revealed abnormalities in 54% of the patients with Marfan's Syndrome. Aortic regurgitation was found in 23% of this group (35% of males, 0% of females) while mitral regurgitation and/or mitral clicks were found in 46% (39% of males, 58% of females). Aortic regurgitation was much more frequent in adult males with Marfan's Syndrome (7/14, 50%) than male children (1/9, 11%), while the incidence of abnormal mitral sounds was essentially the same in adults (33% of males, 60% of females) and children (43% of males, 57% of females) of the same sex with Marfan's Syndrome. Abnormal mitral sounds were more frequent in patients without Marfan's who had mitral prolapse (90%) than in those with Marfan's (46%). It appears that cardiac abnormalities are a consistent manifestation of Marfan's Syndrome and that ultrasound is a more sensitive indicator of these abnormalities in such patients than ausculation or phonocardiography.
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PMID:Aortic root dilatation and mitral valve prolapse in Marfan's syndrome: an ECHOCARDIOgraphic study. 115 78

A hitherto unrecognized case of van der Hoeve's syndrome complicated by Ebstein's anomaly, and prolapse of the mitral and aortic valves was reported. A 46-year-old woman presented with blue sclera, osteogenesis imperfecta and a hearing loss, which are typical symptoms of this syndrome. The electrocardiogram showed a type B WPW syndrome. The phonocardiogram showed a loud and widely split first heart sound, an accentuated protodiastolic extrasound, a decrescendo regurgitant systolic murmur, and a presystolic murmur. The x descent of the jugular phlebogram was obliterated by a markedly increased c wave. Based on M-mode and two-dimensional echocardiograms, 1) the interventricular septal motion was paradoxical and the closure of the tricuspid valve was delayed, 2) the septal tricuspid leaflet was displaced toward the apex from its normal annular insertion on the apical four-chamber view, 3) the three leaflets of the tricuspid valve were abnormally elongated, 4) the anterior mitral leaflet and the non-coronary cusp of the aortic valve were elongated and prolapsed. Doppler echocardiography detected severe tricuspid and mild mitral regurgitations. We suggest that the development of Ebstein's anomaly is possibly related to that of osteogenesis imperfecta genetically and that not only Ebstein's anomaly but a connective tissue disorder contributes to the elongated and prolapsed leaflets.
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PMID:[Van der Hoeve's syndrome with Ebstein's anomaly, and prolapse of the mitral and aortic valves: a case report]. 326 26

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

Ten patients with an average age of 58 years underwent valve replacement because of isolated mitral valve prolapse with severe regurgitation. None had clinical evidence of Marfan's syndrome or another systemic disease that would indicate that a primary connective tissue disorder was the cause of the prolapse. All 10 patients had a dome configuration of the posterior leaflet and one or more ruptured chordae related to it. The gross morphology of the resected specimens revealed marked deviations in chordal branching and the pattern of anchoring in each of the 10 cases, rendering the most severely affected parts of the leaflets less well supported. Similar changes occurred at sites remote from the principal abnormality. Microscopically, the dominant tissue change was myxomatous transformation within the affected leaflets and chordae with secondary changes at both atrial and ventricular surfaces. These findings could indicate that insufficient chordal support may have promoted the development of the floppy valve through a process of chronic undue and unbalanced stress on the valve tension and closure apparatus. The resultant degeneration of the connective tissues, histologically expressed as myxomatous transformation, may underlie stretching and thus redundance of the leaflets and eventually rupture of chordae. It is suggested that this sequence of events be considered as a possible pathogenetic mechanism of isolated mitral valve prolapse, particularly in the subset of aged patients.
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PMID:Isolated mitral valve prolapse: chordal architecture as an anatomic basis in older patients. 399 15

The floppy mitral valve prolapses into the left atrium in such a dynamic manner that the prolapsing floppy mitral valve becomes a space-occupying lesion within the left atrium. A significant result of the floppy mitral valve prolapsing into the left atrium during left ventricular systole is the development of a "third chamber" located between the mitral annulus and the prolapsing mitral valve leaflets. Since the blood in the third chamber does not contribute to forward stroke volume, the third chamber may have significant effects on stroke volume and cardiac output. The floppy mitral valve/mitral valve prolapse dynamics also affect left ventricular papillary muscle tension and traction, altering the patterns of left ventricular contraction and relaxation, activating papillary muscle and left ventricular stretch receptors, and contributing to the production of cardiac arrhythmias. Floppy mitral valve innervation patterns with distinct nerve terminals provide a neural basis for brain-heart interactions, augmented by mechanical stimuli from the prolapsing floppy mitral valve. With the onset of mitral valvular regurgitation, and gradual progression of the mitral valve regurgitation from mild, to moderate, to severe, alterations in left atrial and left ventricular chamber size and performance occur, resulting in left atrial and left ventricular myopathy. As a connective tissue disorder, floppy mitral valve/mitral valve prolapse may be associated with abnormal structural and elastic properties of the aorta, with resultant changes in aortic function. Progression of mitral valve regurgitation and the aging process also affect aortic function indices in an adverse manner. The phenomena associated with floppy mitral valve dysfunction, with prolapse of the mitral valve into the left atrium and the unique, resultant forms of mitral valve regurgitation, are dynamic in nature. As the long-term natural history of these interrelated phenomena is being clarified, it is apparent that the floppy mitral valve/mitral valve prolapse/mitral valve regurgitation influences the circulation in a global fashion.
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PMID:Floppy mitral valve/mitral valve prolapse/mitral valvular regurgitation: effects on the circulation. 1143 20

It has been suggested that, apart from obstetric trauma, chronic straining at stool may also result in pudendal nerve damage, contributing to the etiology of genuine stress incontinence (GSI). The benign joint hypermobility syndrome (BJHS) has been associated with rectal as well as uterovaginal prolapse, suggesting that connective tissue abnormalities may also be implicated. This study was undertaken in order to further investigate whether - and if so, why - an association may exist between symptoms of obstructive defecation, lifetime constipation, chronic heavy lifting and lower urinary tract (LUT) dysfunction. Cases were female patients referred for urodynamic assessment with symptoms of LUT dysfunction. Controls were age-, sex- and postcode-matched community controls. Both cases and controls were assessed using a detailed questionnaire that also asked about symptoms of BJHS. Cases were also divided into their urodynamic classification of LUT dysfunction. All symptoms of obstructive defecation (52.3% vs 33.6%, P=0.00003), as well as chronic straining at stool (38.6% vs 23.4%, P=0.0005), were significantly more common in women with LUT dysfunction than in community controls. BJHS, chronic heavy lifting and a history of uterovaginal prolapse were significantly associated with patients with LUT and obstructive defecation compared to those with LUT dysfunction alone. Overall, symptoms of obstructed defecation were not more prevalent in any one urodynamic diagnostic group than in others. However, childhood constipation and current constipation were significantly more prevalent in women with voiding dysfunction than in those with other urodynamic diagnoses (16.7% vs 5.5%, P = 0.0030 and 13.0% vs 5.7%, P = 0.017). We concluded that women with LUT dysfunction are more likely to have symptoms of obstructive defecation than are community controls. Connective tissue disorders such as BJHS may be an important factor in this association.
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PMID:The association of obstructive defecation, lower urinary tract dysfunction and the benign joint hypermobility syndrome: a case-control study. 1285 57

Pelvic Organ Prolapse (POP) is the hidden epidemic. Demographic studies have shown that women over the age of eighty are the fastest growing population segment in the United States and Canada. Over the next thirty years the rate of women who will seek treatment for POP will double. Risks for the development of POP have been categorized into factors that predispose, incite, promote, and decompensate. Connective tissue disorders may play a role in the pathogenesis which may involve a reduction in total collagen content secondary to increased collagenolytic activity. Eventually clinicians may be able to identify women who may be genetically predetermined to develop POP. The role of adjuvant materials in performing reconstructive pelvic surgery may improve success rates, but evidence based medicine and randomized controlled trials are currently lacking.
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PMID:Pelvic organ prolapse: demographics and future growth prospects. 1673 41

Marfan syndrome (MFS) is an inherited connective tissue disorder, transmitted as an autosomal dominant trait. Its phenotypic and clinical expression is variable and involves several body systems. The ocular, skeletal and cardiovascular systems are characteristically affected. Involvement of the cardiovascular system is the main cause of morbidity and mortality. The authors report the case of a thirteen-year-old girl, with MFS diagnosed at age five, referred to the pediatric cardiology department because of mitral regurgitation. In addition to severe mitral regurgitation due to prolapse of both mitral valve leaflets, diagnostic exams showed massive mitral annulus calcification and ostium secundum atrial septal defect (ASD). The patient underwent successful mitral valve repair and ASD closure surgery. In this report we highlight some features of MFS, stressing the cardiovascular aspects.
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PMID:Massive calcification of the mitral valve annulus in an adolescent with Marfan syndrome. A case report. 1719 Feb 41

Cutis laxa (CL) is an extremely inherited or acquired connective tissue disorder characterised by a markedly reduced systemic elastin content. Genital abnormalities in patients with CL have been rarely reported. We report such a case in a 48-year-old CL patient affected by genital prolapse, focusing on immunohistological and molecular biology assessment of elastin and collagen type I, III, VI content in the main uterine ligaments. The woman was referred to our department for the onset of a rapidly progressing genital prolapse and urinary incontinence. The patient underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy and sacrocolpopexy. Punch biopsies from both cardinal and uterosacral ligaments revealed a dramatic reduction in elastin and an increase in collagen type VI content. The present report seems to underline the central role exerted primarily by elastin in the supportive connective tissue and might contribute to the knowledge of extracellular matrix abnormalities at the basis of genital abnormalities in CL patients.
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PMID:Association of cutis laxa and genital prolapse: a case report. 1745 26

During the past 5000 years, ancient nomenclature and dogmas regarding the etiology of protrusions have accumulated. Whereas, in the abdomen, the Latin "hernia" supplanted Greek, it, based on content, persists in the pelvis as cystocele, rectocele, etc. Russell (Lancet 1:1519-1523, 1902) championed the congenital saccular theory of herniae, denying they could ever be acquired pathologically. Barring technical error, removal of the sac would cure. Despite dissent in the 1920s by Harrison, Keith, and Andrews, Russell's concepts held late into the twentieth century. We now know that pathology - systemic connective tissue disease - plays an important role in adult herniation. Tensionless prosthetic repair is usually required since the healing of damaged musculo-aponeurotic structures in abdomen or pelvis is impaired. Laparoscopists have declared sliding extraperitoneal prolapse of sacless kidney, ureter, bladder, and fat pad to be herniae. Similar vaginal protrusions should be denoted likewise. It is time gynecologists and herniologists join in the effort to develop antidotes for combating this pernicious co-morbidity which has been shown also to cause aneurysms, diverticulosis coli, skin changes, and emphysema. Prophylaxis should include exercise and going without cigarettes.
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PMID:Archaic terms and dogmas impeding care of abdominal and pelvic herniation. 1750 28


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