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

A patient with typical Marfan's syndrome was monitored by echocardiography, which detected (in 1978) a prolapse of the mitral valve complicated by severe cardiac insufficiency, necessitating valve replacement. Seven years later an aneurysm of the ascending aorta (60 mm) was detected which caused prolapse of the aortic valve with valvular insufficiency, combined with prolapse of the tricuspid valve and a calcified foramen ovale the permeability of which was verified by peripheral injection of contrast medium. Echocardiography, notably two-dimensional, is an excellent examination for regular and atraumatic monitoring of Marfan's syndrome and detection of cardiovascular complications.
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PMID:[Echocardiographic monitoring of Marfan's syndrome. Triple valvular prolapse and calcified permeable foramen ovale]. 374 Jul 76

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

Twelve patients (5 male and 7 female; mean age 17.7 +/- 12.3 years, range 5 to 42) with Marfan's syndrome and 48 of their first degree relatives (16 male and 22 female; mean age 29.8 +/- 17.3 years, range 4 to 60) were evaluated for cardiac abnormalities by echocardiography. Of the patients with Marfan's syndrome, aortic valve prolapse was present in 1, tricuspid valve prolapse in 4, mitral valve prolapse in 12 and aortic root dilation in 10. Of the 48 first degree relatives of these 12 patients, tricuspid valve prolapse was diagnosed in 3, mitral valve prolapse in 15 and aortic root dilation in 12; aortic valve prolapse was not observed in any of these subjects. Of the 60 persons studied in these 12 kindreds, 28 (47%) had cardiac involvement. Among the 28 with cardiac involvement, aortic valve prolapse was observed in 1 (3.5%), tricuspid valve prolapse in 7 (25%), mitral valve prolapse in 27 (96%) and aortic root dilation in 22 (79%). Mitral valve prolapse was also present in the seven subjects with tricuspid valve prolapse and one with aortic valve prolapse. In 32 of the 60 persons studied in the 12 families, at least one abnormality of the cardiac, skeletal or ophthalmologic system was observed. Nineteen subjects were younger than 18 years of age; all had cardiac involvement associated with Marfan's syndrome. The notably earlier presentation of cardiac involvement in young persons may be responsible for a shorter life span in this group.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Echocardiographic study of cardiac abnormalities in families of patients with Marfan's syndrome. 404 26

We report the echocardiographic features of nine patients with Marfan syndrome. Six men and three women. Average age: twenty nine years. Sixty six per cent had aneurysmatic enlargement of the aortic root. One hundred per cent of the cases had aortic insufficiency, enlargement of the left ventricular diameter, decrease of the ejection fraction, and decrease in circunferential shortening; mitral prolapse, (in 6) and signs of high pulmonary artery pressure (in 4 cases). Hemodynamic studies performed in 46 per cent of the patients correlated well with the echocardiographic features. Autopsy performed in the patients who died, corroborated the cardiovascular abnormalities. We conclude that the use of the echocardiogram is a useful non-invasive technique for the early evaluation of the cardiovascular features in the Marfan syndrome.
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PMID:[Marfan syndrome and echocardiography]. 624 64

Two-dimensional echocardiography (2-D echo) was performed in 86 consecutive patients with mitral valve prolapse (MVP) and in 25 normal subjects. In normal subjects, mitral leaflet thickness was 3.5 +/- 0.8 mm (mean +/- standard deviation) and the mitral leaflet thickness to aortic wall thickness ratio was 1.0 +/- 0.2. Patients with MVP were separated into 2 groups: those with normal mitral thickness (less than or equal to mean + 2 SD observed in normal subjects, i.e., less than or equal to 5.1 mm) and normal mitral thickness to aortic wall thickness ratio (less than or equal to mean + 2 SD observed in normal subjects, i.e., less than or equal to 1.4) (group I) and others in whom these values were increased (group II). In group I, mitral thickness was 3.6 +/- 0.6 mm and mitral thickness to aortic wall thickness ratio was 1.1 +/- 0.1, and in group II, mitral thickness was 8.8 +/- 1.2 mm and mitral thickness to aortic wall thickness ratio was 2.2 +/- 0.5. The only significant cardiovascular abnormalities in group I were mitral regurgitation in 2 patients and tricuspid valve prolapse in 1 patient. In group II, 7 patients had clinically significant mitral regurgitation, 8 had aortic root abnormalities, 4 had tricuspid valve prolapse and 6 had Marfan's syndrome. Cardiovascular abnormalities were present in 60% (18 of 30) of patients in group II and in 6% (3 of 56) of patients in group I (p less than 0.001). Two-dimensional echo enabled the identification of a subset of patients with MVP who had thickened mitral leaflets. These patients had an increased incidence of cardiovascular abnormalities.
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PMID:Identification of the increased frequency of cardiovascular abnormalities associated with mitral valve prolapse by two-dimensional echocardiography. 650 98

Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understand simple directions, and acquire a limited vocabulary. In childhood, many are hyperactive. Clinical features include low birth weight, normal birth length, and initial poor feeding and thriving. Musculo-skeletal systems are affected: there are joint contractures, long thin limbs, and striking arachnodactyly. There is abnormal implantation of the thumb, increased space between the first and second fingers, and excess digital creases. Marfan syndrome was a provisional diagnosis for several cases prior to cytogenetic analysis. Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens dislocation is not observed. Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, microphthalmia, prominent nasal bridge, small mouth, thin upper lip with down-turned corners, and slight retrognathia. In older children, retrognathia is diminished and the nose becomes long and narrow. The new culture and chromosome banding techniques enable sorting of cases with the distal dup 9q phenotype into two groups. The cases with a longer dup 9q are more likely to develop with life-threatening congenital anomalies. The cases with the shorter dup 9q34 have a less severe long-term prognosis and will benefit, together with their parents, from special education. Female carriers of the inv ins(9) (q22.1q34.3q34.1) have about a 31% risk in each pregnancy to conceive a fetus affected by the dup 9q34 syndrome. A comparable figure is not yet available for male carriers.
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PMID:Duplication 9q34 syndrome. 661 95

A family in which the five members including the identical twins had a mitral valve prolapse was described. None of these members had any known stigmata of Marfan syndrome and their auscultatory findings were different each other. M-mode echocardiograms disclosed a midsystolic buckling of the mitral valve in the identical twins, their parents and the mother's brother, but all were asymptomatic. Electrocardiograms revealed a wandering pacemaker in two members. The index case was a 13-year-old girl whose apical late systolic murmur was detected incidentally by the mass screening examination for cardiac diseases. Both the inhalation of amyl nitrite and injection of methoxamine induced the augmentation of this murmur and made it holosystolic. The identical twin of the index case had multiple apical non-ejection clicks. However, a mitral regurgitant murmur was not induced by pharmacological provocations. Two-dimensional echocardiograms revealed prolapse of both the anterior and posterior mitral valve leaflets in both of them. Their mother had a late systolic click and the mother's brother had a cardiopulmonary murmur. The abnormal auscultatory findings were not observed in their father. This familial study suggested the genetic background and the various clinical manifestations of mitral valve prolapse.
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PMID:Mitral valve prolapse in five members of a family including the identical twins. 664 6

Polygraphic (including apexcardiograms and carotid pulse tracings) and M mode echocardiographic examinations were carried out in 34 symptomatic patients with Marfan's syndrome; similar studies were performed in 32 relatives and in 34 young patients with kyphoscoliotic disease. The purpose of these investigations was to determine the association between cardiac and oculoskeletal abnormalities and to identify specific patterns of disease with a poor prognosis. Polygraphic tests showed significant changes in all patients with Marfan's syndrome: 74% showed the apical systolic click and murmur of mitral valve prolapse; 48% had the diastolic murmur of aortic regurgitation; isolated mitral valve prolapse was found in 52%, 26% had isolated aortic regurgitation, and 22% had a combination of the two. Echocardiographic changes were also found in all patients: 79% had aortic root dilatation; 48% fluttering of the anterior mitral leaflet; 79% mitral valve prolapse, mostly pansystolic; 34% both mitral prolapse and aortic root dilatation; and 34% left ventricular dilatation. The severities of the cardiac and oculoskeletal abnormalities were not correlated. The high prevalence of mitral valve prolapse found in these patients, which did not vary with age or sex, was also present in their relatives: mitral prolapse was present in 38% and aortic dilatation, with or without regurgitation, in 14%. Four of the relatives had clearcut Marfan's syndrome, and at least four others a forme fruste. The metacarpal index was abnormal in 41% of the relatives; ocular abnormalities were rare. In kyphoscoliotic patients only an increase in the prevalence of mitral prolapse (18.2% in women, none in men) was found. These findings underline a complex pattern of association between cardiac, ocular, and skeletal abnormalities in patients with Marfan's syndrome and confirm an appreciable inheritability of several of the markers of the disease.
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PMID:Cardiac, skeletal, and ocular abnormalities in patients with Marfan's syndrome and in their relatives. Comparison with the cardiac abnormalities in patients with kyphoscoliosis. 669 72

The past decade has seen a notable resurgence of interest in the systolic click-murmur syndrome. Previously regarded as extracardiac and benign, it is now clear that these auscultatory findings are central to a disorder characterized by abnormal systolic herniation (prolapse) of the mitral leaflets into the left atrium. Although it may be the result of diverse etiologies, the usual case represents an idiopathic, hereditary disorder of the valve leaflets with pathologic findings similar to those in Marfan's syndrome. The condition is very common and generally benign, and asymptomatic; however, a wide variety of clinical manifestations has been described, with a clinical picture at times indistinguishable from that of coronary artery disease. The small subset of patients at risk for malignant arrhythmias and sudden death has yet to be fully characterized. Although noninvasive techniques generally suffice for the diagnosis of MVP, left ventricular cineangiography is the definitive procedure. It remains for future studies in symptomatic and asymptomatic patients to define the relation between severity of MVP, its clinical manifestations, and its prognosis.
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PMID:Mitral valve prolapse--a review. 698 85


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