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

Prolapse of the mitral valve is described in two patients with the Ebstein's anomaly of the tricuspid valve. This association has not been described previously. It is probable, however, that this association is not a rare one, but that clinical features of the prolapsing mitral valve are obscured by those resulting from the malformed tricuspid valve. Opportunity also was provided to study anatomically the mitral valve of a patient known to have a systolic click and a late systolic murmur (the Barlow syndrome). Although there have been several anatomic descriptions of floppy mitral valve at necropsy, they have been extremely rare in patients known to have the classic auscultatory features of the Barlow syndrome.
 ...
PMID:Prolapse of the mitral valve is described in two patients with the Ebstein's anomaly of the tricuspid. 13 33

For half a century the systolic click and late systolic murmur lay dormant as innocent auscultatory curiosities. The thirteen years since Barlow related these phenomena to mitral leaflet prolapse have witnessed an astonishing information explosion. We have sought to bring together the accumulated data in this review. An Historical Perspective traces the evolution from the now abandoned "pericardial" or "extracardiac" phases, through the leafletchordal phase (redundancy), the myocardial phase (segmental left ventricular contraction abnormalities), to the anular phase (dilatation and faulty systolic contraction). Functional Anatomy is dealt with in terms of pathology, pathophysiology, hemodynamics, angiocardiography, echocardiography, and physical and pharmacological interventions. Clinical Manifestations are concerned with prevalence, natural history, symptoms, physical signs, electrocardiographic abnormalities and roentgen fingings. The four Major Complications- sudden death, infective endocarditis, spontaneous rupture of chordae tendineae, and progressive mitral regurgitation- are examined. Associated Cardiac Diseases, i.e., Marfan's syndrome, ostium secundum atrial septal defect and atherosclerotic coronary artery disease, are discussed, and a section on Treatment deals chiefly with prophylaxis for infective endocarditis and the management of arrhythmias and chest pain. A final section on Evolving Information considers etiologic concepts, the nature of left ventricular contration abnormalities, the cause of chest pain, the relationship to Marfan's syndrome and ostium secundum atrial septal defect, and the effect of aging and sex differences on leaflet chordal redundancy.
 ...
PMID:Mitral valve prolapse. 77 40

From 1969 to 1985, mitral valve repairs using Carpentier's technique were performed for acquired mitral valve incompetence. 72 patients required a reoperation 3 days to 13 years later (mean 5 +/- 3.5 years). The reoperation rate risk was dependent upon the etiology: Barlow 0.6 +/- 0.2% patient year, fibro-elastic deficiency 0.7 +/- 0.3, endocarditis 1.7% Rheumatic disease 4.6 +/- 1.4%. The risk of reoperation in Rheumatic disease is significantly higher (p less than 0.05) than in degenerative disease. The causes of failures could be categorized into two groups according to whether they are surgeon related or valve related: Group I, Prosthetic ring dehiscence or malposition 15%, anulus dilatation (when no ring was implanted) 4%, triangular resection of the anterior leaflet 4% residual prolapse 8.3%. Group II, Recurrent prolapse 16.6% valve stenosis 17%, leaflet retraction 35%. Failures in Group I can be reduced with "increased" experience as opposed to group II. At reoperation valve repair was possible in 15.3% of the cases whereas valve replacement was necessary in 84.7% with an overall operative mortality of 1.4%. We conclude that mitral valve repair in acquired mitral incompetence carries out a small risk of reoperation. Most of the repair failures are surgeon related in degenerative disease and valve related in rheumatic disease.
 ...
PMID:Failures in reconstructive mitral valve surgery. 194 82

Between March, 1969 and March, 1984, 89 children aged from 2 to 12 years (mean: 8.3 +/- 2.5 years) and presenting with mitral valve regurgitation underwent valvuloplasty by the Carpentier technique. The cause of the regurgitation was rheumatic fever in 84 cases (94 p. 100), bacterial endocarditis in 4 cases and Barlow's disease in 1 case. Mitral valve regurgitation was divided into 3 types, namely: type I, normal valve motion (5 cases), type II, valve prolapse (74 cases) and type III, restricted valve motion due to fibrosis of the leaflets or chordae (20 cases). The hospital mortality rate was 2.3 p. 100 (2 deaths). The cumulative follow-up was 546 patients/years, and the actuarial survival rate at 10 years was 89.96 +/- 8.5 p. 100. At 10 years the actuarial thromboembolic complication rate was 2 p. 100, or 0.3 +/- 0.2 p. 100 per patient year, and the actuarial valvuloplasty deterioration rate was 27 +/- 8.5 p. 100. The risk of re-operation was 2.2 +/- 0.6 p. 100 per patient year. At 10 years 78.4 +/- 7.2 p. 100 of the children were free of all re-operation, and 69 p. 100 had no complication. Thus, whenever possible (i.e. in 90 p. 100 of the cases, according to our experience) and considering the satisfactory long-term results, all children with acquired mitral valve regurgitation should undergo mitral valvuloplasty as first-line treatment.
 ...
PMID:[Valvuloplasties for acquired mitral insufficiency in children (Carpentier's technic). Long-term results in 87 cases]. 312 87

It is not easy to evaluate the prognosis of mitral valve prolapse. First of all, a positive diagnosis is difficult: the clinical insufficiencies are ill-compensated by sonocardiography as it is less reliable than expected; the very existence of the "mitral valve prolapse" described by Barlow is being challenged. Secondly, the most severe complications of mitral prolapse are rare, with respect to its frequency. Some complications are currently well defined. Thus, severe mitral insufficiency, leading to valve replacement, affects elderly men more than young women, although the pathological lesions correspond to the same disease. Endocarditis is rare and only occurs when there is an audible murmur. Rhythm disorders are varied, with however, frequent junction tachycardias and a marked influence of catecholamines, which may explain the clinical effectiveness of beta-blockers. Unfortunately, severe complications are not as well known. Thus, the risk of sudden death and cerebral vascular accident cannot be figured out from large statistical studies. Only studies of some so called "risk" sub-groups, should allow a better knowledge of these two complications and a more effective prevention.
 ...
PMID:[Evaluation of the prognosis of mitral valve prolapse]. 332 56

Myxomatous mitral-valve prolapse (MMVP), also called Barlow disease, is a common cardiac abnormality and affects up to 5% of the population. It is characterized by an excess of tissue that leads to billowing of the mitral leaflets, sometimes complicated by prolapse. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Previous reports have proposed an autosomal dominant inheritance of the trait, with age- and sex-dependent expression. By systematic echocardiographic screening of the first-degree relatives of 17 patients who underwent mitral-valve repair, we have identified four pedigrees showing such an inheritance. Genomewide linkage analysis of the most informative pedigree (24 individuals, three generations) showed a significant linkage for markers mapping to chromosome 16p, with a two-point maximum LOD score for D16S3068 (Zmax=3.30 at straight theta=0). Linkage to D16S3068 was confirmed in a second family (Zmax=2.02 at straight theta=0) but was excluded for the two remaining families, thus demonstrating the genetic heterogeneity of the disease. Multipoint linkage analysis performed, with nine additional markers, on the two families with linkage gave maximum multipoint LOD scores of 5.45 and 5.68 for D16S3133, according to a conservative and a stringent model, respectively. Haplotype analysis defined a 5-cM minimal MMVP-1 locus between D16S3068 (16p11.2) and D16S420 (16p12. 1) and a 34-cM maximal interval between D16S404 and D16S3068 when recombination events were taken into account only in affected individuals. The identification of this locus represents a first step toward a new molecular classification of mitral-valve prolapse.
 ...
PMID:Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. 1052 Dec 88

Mitral valve repair in patients with mitral valve billowing and prolapse (Barlow) can be a demanding surgical procedure. A mitral valve repair method, which incorporates the complete resection of the middle scallop of the posterior leaflet, a sliding and folding plasty with the remaining lateral scallops combined with a triangular resection of the anterior leaflet and a ring-annuloplasty was developed, which maximizes predictable anatomic and physiologic efficacy of this repair and minimizes unpredictable results. A total of 37 consecutive patients underwent mitral repair with this method from 1996 to 1998, with consistently excellent results. Short-term follow-up information collected after 22.7 +/- 8.6 months showed one late death and 93.0% of all surviving patients in New York Heart Association functional class I or II. There were no late reoperations and no thromboembolic, bleeding, or other complications. No patient had recurrent mitral regurgitation.
 ...
PMID:Repair of mitral valve billowing and prolapse (Barlow): the surgical technique. 1551 7

Degenerative mitral valve disease is the most common cause of mitral regurgitation (MR) in developed countries. The most common etiologies of valvular regurgitation are Barlow's disease and fibroelastic deficiency. The mechanism of MR is type II dysfunction (leaflet prolapse) due to chordae elongation or rupture in most patients. Associated annular dilation is a common lesion in almost all patients with chronic MR. By means of segmental valve analysis, isolated posterior leaflet prolapse (P2 segment) is often observed in patients with fibroelastic deficiency, whereas the prolapse of multiple segments or bileaflet prolapse is typically seen in patients with Barlow's disease. In patients with degenerative mitral valve disease and severe MR, reconstructive surgery should be performed before the occurrence of clinical symptoms, atrial fibrillation, pulmonary hypertension, and left ventricular dysfunction or enlargement. The goals of reconstructive surgery are preservation or restoration of normal leaflet motion, creation of a large surface of coaptation, and stabilization of the entire annulus with a remodeling annuloplasty. Today, reconstructive techniques are standardized, reliable, and reproducible, and therefore should be applied systematically to all patients with degenerative valvular disease.
 ...
PMID:Principles of reconstructive surgery in degenerative mitral valve disease. 1787 3

Valvular dystrophies due to myxoid degeneration are common and potentially serious cardiac pathologies. They constitute a heterogeneous group of which the most usual is idiopathic mitral valvular prolapse (Barlow's disease). The majority of mitral valvular prolapses are sporadic, but there are several familial forms. Transmission is usually autosomal dominant with incomplete penetrance and variable expression. The first chromosomal location to be identified was on the 16p11-13 chromosome. Since then, two other loci have been identified on the 11p15.4 and 13q31-32 chromosomes. Our team has recently identified the first gene responsible for myxoid valvulopathy linked to the X chromosome, from a large family of 318 members. This is the gene that codes for filamin A, which is a cytoskeleton protein. The frequency of mutations in this gene is still unknown, but out of 7 families in which transmission was compatible with X-linked transmission, mutations were discovered in 4 of the families. Thanks to a genetic epidemiological approach, we have also demonstrated that there are familial forms of aortic stenosis, which are probably common. Identification of the genes implicated in these common forms of valvular pathology is important, as it will allow a better understanding of the pathophysiology of these valvular disorders and could lead to better therapeutic management in the future.
 ...
PMID:[Genetic aspects of valvulopathies]. 1822 15

We report the case of a 52-year-old man who was referred to surgery because of severe mitral and tricuspid regurgitation of Barlow's disease. In particular, the tricuspid valve was a 'four-leaflet valve' due to the presence of a small accessory leaflet between the septal and the posterior leaflets. The valve insufficiency was determined by prolapse of all leaflets (in particular of the anterior and posterior ones) associated with annular dilatation. The patient underwent both mitral and tricuspid valve repair. The tricuspid regurgitation was corrected by stitching together the middle point of the free edges of the tricuspid leaflets producing a 'four-leaflet clover-shaped' valve. Surgical and echocardiographic images of the repaired valve are reported.
 ...
PMID:'Four-leaflet clover repair' of severe tricuspid valve regurgitation due to complex lesions. 1860 54


1 2 3 Next >>