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)

A case of pulmonary thromboembolism with transient pulmonary hypertension of a rare cause is presented. In 24-year-old woman myasthenia was recognised on the ground of ptosis and fixation of eyes muscles from the 14th year of age. The treatment with mestinon was ineffective. Before planned thymectomy serious disturbances of heart rhythm and conduction were confirmed. Stimulator was implanted and thymectomy was done. No improvement of neurological state was observed despite the treatment with mestinone and prednisone. When she was 30 years old disease of lung appeared with fever, cough and parenchymal and pleural lesions of right lung. Antibiotic therapy was ineffective. CT scan and US examination revealed large thrombus inside the right auricle connected with stimulator electrodes. Embolisation of right pulmonary arteria was confirmed also. Treatment with heparin was ineffective and thrombectomy was performed. Exact neurological examination stated that the patient had no typical symptoms of myasthenia and that symptoms related with eyes and heart could be result of mitochondrial myopathy. Diagnosis was confirmed by EMG examination and muscle biopsy.
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PMID:[Pulmonary thromboembolism as a late complication of mitochondrial myopathy (Kearns-Sayer syndrome ]. 1505 81

Rigid spine syndrome (RSS) is a group of childhood-onset muscle disorders characterized by marked limitation of flexion of the spine. Various cardiac changes have been documented in case reports. This study reports on a cardiac evaluation of nine patients with the "vacuolar variant" of RSS. Noninvasive cardiac evaluation entailed creatine kinase levels, full-inspiration chest roentgenograms, standard 12-lead ECG, and 24-h ambulatory ECG recording, as well as M-mode and two-dimensional echocardiography with Doppler study. Heart auscultation was abnormal in five patients. Creatine kinase MB fraction was normal in all patients. Chest roentgenogram showed scoliosis (five of nine), kyphosis (one of nine), severe anterior-posterior flattening of the chest cavity (two of nine), elevated hemidiaphragm (one of nine), caved-in appearance of upper lobes (two of nine), and symmetry of lung volumes (one of nine). Twelve-lead ECG abnormalities indicated right-sided heart disease (three of nine). Echocardiogram showed mitral valve prolapse (five of nine) with regurgitation (three of five) and evidence of pulmonary hypertension (three of nine). Ambulatory ECG recorded paroxysmal tachyarrhythmias in hypoxic or hypercapnic patients (three of nine). There was no correlation between any cardiac abnormalities and patient weakness. Mitral prolapse/regurgitation may have a developmental association with this congenital myopathy. Findings of cor pulmonale were due to the restrictive chest wall defect and respiratory muscle weakness. Paroxysmal tachyarrhythmias were due to hypoxia or hypercapnia. There was no evidence of a primary cardiomyopathy.
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PMID:Rigid spine syndrome: a noninvasive cardiac evaluation. 1782 62

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.
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PMID:Principles of reconstructive surgery in degenerative mitral valve disease. 1787 3

The geometric and hemodynamic determinants of functional tricuspid regurgitation severity are mainly determined by septal leaflet tethering, septal-lateral annular dilatation, and the severity of pulmonary hypertension. Isolated significant tricuspid regurgitation can occur from isolated prolapse of valvar leaflets. Tricuspid prolapse has been found more frequently to be associated with mitral valve prolapse or with other cardiac and lung diseases and it has been rarely found as an isolated finding. Isolated primitive tricuspid prolapse appears in fact a relatively unknown anatomo-clinical entity and is of clinical importance, since this condition may be associated with significant tricuspid incompetence, a high incidence of cardiac arrhythmias, and possibly with bacterial endocarditis. We present a case of isolated prolapse of the tricuspid septal leaflet in an 11-year-old Italian boy. Also this case is illustrative of an isolated tricuspid prolapse.
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PMID:Isolated tricuspid prolapse in young child. 1865 32

Mitral valve prolapse may involve 1 leaflet or 2 leaflets, yet management guidelines do not differentiate posterior leaflet (PML) from bileaflet (BML) prolapse. We hypothesized that patients with BML have a prolonged natural history with more severe atrial and ventricular enlargement but less severe mitral regurgitation (MR) compared to patients with PML. Patients with mitral valve prolapse undergoing mitral repair were identified and preoperative characteristics were recorded. Patients with predominant PML prolapse (n = 304) versus BML prolapse (n = 131) were identified based on preoperative echocardiographic and intraoperative findings. Timing of operation was based on standard guidelines. Despite being equally symptomatic, patients with BML differed significantly from those with PML in being younger (54 vs 60 years, p <0.0001), more likely to be women (51% vs 24%, p <0.0001), and having a larger valve (37 vs 32 mm, p <0.0001). Despite similar cardiac function and dimensions, patients with BML had less severe MR (24% vs 13% with <4+ MR, p = 0.01) and less severe pulmonary hypertension (14% vs 31%, p <0.0001) at time of operation. In conclusion, patients with BML often meet indications for mitral valve repair with similar cardiac enlargement but less MR than patients with PML prolapse. Patients with BML prolapse may benefit from timing mitral repair based more on symptomatic 3+ MR or cardiac enlargement and less on presence of severe MR.
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PMID:Comparison of need for operative therapy in patients with mitral valve prolapse involving both leaflets versus posterior leaflet only. 2283 12

Mitochondrial disorders (MIDs) may occasionaly go along with dysmorphism but hand deformities, as in the following case, have been only rarely reported. A 72 year old female with ptosis, hypoacusis, tremor, myopathy, diabetes mellitus, arterial hypertension, severe cardiac disease, pulmonary hypertension, gastric carcinoid, hepatopathy, generalised atherosclerosis, anemia, polyarthrosis, and hyperlipidemia, additionally presented with brachydactylia. Upon neurological work-up a MID was suspected. The family history was positive for diabetes but negative for brachydactylia or other features of a MID. MIDs may be associated with brachydactylia. Skeletal deformities may be a phenotypic manifestation of MIDs.
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PMID:Brachydactylia as a phenotypic feature of mitochondrial disorder. 2345 27

A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and pulmonary hypertension. Multiplex ligation-dependent probe amplification (MLPA) demonstrated duplication of the subtelomeric region of chromosome 16p and deletion of the subtelomeric region of chromosome 4q, suggesting a translocation between 4q and 16p. The karyotype of his parents was normal and their MLPA analysis also indicated a de novo imbalance. He had microcephaly, high frontal hairline, thin blond hair, bilateral blepharophimosis and palpebral ptosis, short nose, everted upper lip, cleft palate, micrognathia, cupped anteverted ears, hypoplastic distal phalanges and bilateral inguinal hernia. He also had pulmonary hypertension with tricuspidal regurgitation; cavernous liver hemangioma anomalies have been previously described in association with dup16p. We concluded that pulmonary and other vascular anomalies can be a feature of dup16p. We believe this is the first confirmed case of a 16p subtelomeric duplication with vascular anomalies identified in Albania.
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PMID:16p subtelomeric duplication with vascular anomalies: an Albanian case report and literature review. 2405 35

Introduction: Mitral valve prolapse (MVP) is a common valve pathology with a spectrum of disease from isolated prolapse to myxomatous, multi-scallop Barlow's disease. The main complications relate to progression of mitral regurgitation, endocarditis, sudden death, and stroke. The timing of intervention in patients with asymptomatic severe mitral regurgitation is controversial. Areas covered: This article reviews the pathophysiology, genetics, clinical features, diagnostic imaging, complications, long-term outcomes, and indications for intervention in MVP. Expert commentary: Several key dilemmas in the management of MVP remain. Factors which influence progression of mitral regurgitation are unclear and therefore, we have no therapeutic targets to prevent progression. Evidence-based methods to reduce the risk of sudden death, stroke, and endocarditis have not been identified. In symptomatic patients with severe mitral regurgitation valve surgery is recommended. In asymptomatic patients, careful risk stratification incorporating markers of left ventricular dysfunction, atrial fibrillation, pulmonary hypertension, and valve reparability is required to identify the optimal timing of intervention.
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PMID:Mitral valve prolapse. 3048 38


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