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)

Mitral valve clicks with or without late systolic murmurs were detected in genetically unrelated marital partners of 5 families. The first family represented 2 successive nonconsanguineous marital unions with 3 generations of mitral valve clicks. The second family included 1 natural and 2 adopted children with clinical and echographic evidence of mitral valve prolapse. The third family was comprised of asymptomatic parents, both with nonejection clicks and mitral valve prolapse, whose daughter presented 3 years previously with syncope, palpitations, and combined mitral and tricuspid valve prolapse. The fourth family had 3 members with auscultatory and ultrasonic manifestations of billowing mitral valve, whereas the fourth member had "silent mitral valve prolapse." The fifth family represented a mother with auscultatory and echographic evidence of mitral valve prolapse; her 14-year-old daughter had both mitral and tricuspid valve prolapse, whereas the son had a bicuspid aortic valve. Both children were products of a prior marriage, and her husband has symptomatic mitral valve prolapse. We conclude that matrimonial mitral valve prolapse probably reflects the purported (6--10%) prevalence of this disorder in the general population. The consequences of such marital union on progeny is currently unclear and warrants future investigation.
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PMID:All in the family: matrimonial mitral valve clicks. 724 29

Within one and a half year 24 patients with arrhythmias or chest pain were investigated to detect a mitral valve prolapse syndrome which was found in 9 cases by echocardiography. Within this group 6 patients complained of fatigue, dizziness, dyspnea or syncope, 6 had chest pain, 7 paroxysmal tachycardia and 2 patients premature beats. Auscultation revealed in 3 cases a systolic click, in 1 case a systolic click with late systolic murmur and in 5 cases a systolic murmur only. The ECG showed premature ventricular contractions in 2 patients, ST-T abnormalities in 6 patients. Echocardiography showed a late systolic prolapse in 6 and a pansystolic prolapse in 3 patients. In 3 cases also an angiography was performed and in this way a mitral valve prolapse detected; hemodynamics and coronary arteries were normal in all 3 cases but in one case a mitral insufficiency and in one case an asynergy of the anterior wall was found. Pathophysiology, clinical symptoms and phonocardiographic, echocardiographic and angiographic findings in mitral valve prolapse syndrome are discussed.
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PMID:[Mitral valve prolapse syndrome]. 744 4

Mitral valve prolapse (MVP), which occurs in about 3% of adults, is usually a primary, dominantly inherited condition. MVP may be diagnosed by auscultation of a mid-systolic click and late-systolic murmur that move dynamically with postural maneuvers. M-mode echocardiography confirms MVP by demonstrating late-systolic prolapse and two-dimensional echocardiography reveals leaflet billowing into the left atrium. Echocardiography identifies severe forms of MVP by documenting significant mitral regurgitation, enlargement and thickening of the mitral leaflets and annulus, and loss of leaflet apposition. In contrast to early reports, true "MVP syndrome" as revealed by controlled studies consists of low body weight and blood pressure, minor skeletal abnormalities, orthostatic hypotension, palpitations, and mitral regurgitation that is usually mild. Complications of MVP include progressive mitral regurgitation, infective endocarditis, orthostatic syncope, and possible risks of neurologic ischemia and arrhythmic sudden death. Risk factors we have identified for complications among patients with MVP include older age, male gender, the presence of mitral regurgitation, and possibly, higher weight and blood pressure. The cumulative risk of all complications of MVP by age 75 is from 5% to 10% for affected men and 2% to 5% for affected women. Patients with MVP who have neither a murmur nor Doppler evidence of mitral regurgitation may be reassured that their condition is benign. For other patients with MVP we have shown that oral antibiotic prophylaxis is cost-effective. The presence and severity of mitral regurgitation govern the frequency and intensiveness of follow-up.
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PMID:Recent developments in the diagnosis and management of mitral valve prolapse. 778 75

Mitral valve prolapse (MVP) is usually a primary, dominantly inherited condition. Diagnosis may be made by auscultation of a midsystolic click and late-systolic murmur that move dynamically with postural maneuvers. Echocardiography confirms the diagnosis by demonstrating M-mode late-systolic prolapse and 2-D leaflet billowing into the left atrium. More severe forms of MVP can be detected echocardiographically by documentation of significant mitral regurgitation, enlargement and thickening of the mitral leaflets and anulus, and loss of leaflet apposition. In contrast to earlier reports, the true "MVP syndrome" consists of low body weight and blood pressure, minor skeletal abnormalities, orthostatic hypotension, palpitations and mitral regurgitation of variable degree. Complications of MVP include progressive mitral regurgitation, infective endocarditis, and possible risk of neurologic ischemia, arrhythmic sudden death, and orthostatic syncope. Risk factors for complications among MVP patients include older age, male gender, the presence of a mitral regurgitant murmur, and, possibly, higher weight and blood pressure. MVP patients with neither a murmur nor Doppler evidence of mitral regurgitation may be reassured that their condition is benign. For other MVP patients, the presence and severity of mitral regurgitation govern the frequency and intensiveness of needed follow-up.
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PMID:Mitral valve prolapse. 782 19

One encounters a variety of radiopaque foreign objects when reviewing plain film radiographs of the abdomen. Recognizing such devices can offer important clues about a patient's medical history. Accordingly, intrauterine contraceptive devices (IUCD), tubal sterilization, varicoceles, inferior vena cava (IVC) filtration, and vaginal pessaries are discussed with reference made to an IUD, tubal sterilization clips, embolization coils for bilateral varicoceles, an IVC filter, and a vaginal pessary in five attached anteroposterior radiographs of the lower abdomen and pelvis for five different patients. IUCDs confer long-term, passive, reversible, and inexpensive protection against unwanted pregnancy. They may, however, induce menstrual complications as well as an increased risk of pelvic inflammatory disease and ectopic pregnancy. They can also be spontaneously expelled from the uterus without being noticed by the client. An IUCD increases the risk of spontaneous abortion unless removed in cases where intrauterine pregnancy occurs. Complications at the time of insertion include pain, syncope, and uterine perforation. Tubal sterilization is an effective, though largely irreversible method of contraception. Complications include an increased risk of ectopic gestation in the event of pregnancy and the usual risks of hemorrhage, infection, injury to adjacent structures, and anesthesia-related complications. A varicocele is a dilation of the pampiniform venous plexus of the scrotum. They are more often unilateral than bilateral, occurring in up to 20% of men most often on the left side. Although most cases are probably insignificant, varicoceles can decrease sperm count and motility and cause abnormal morphology. Correction of varicoceles has been shown to improve sperm quality and can increase the chances of fertility. Percutaneous venous embolization techniques have recently been developed to that end. Procedural risks include perforation of the vein, intimal dissection, inadvertent embolization of vessels via collateral channels, and reactions to contrast media. IVC filters are a feasible alternative treatment for deep venous thrombosis and pulmonary embolism among patients in whom anticoagulants are contraindicated or for those in whom anticoagulation therapy has failed. Introduced via the femoral or jugular veins, they are permanent metallic devices placed within the lumen of the IVC to filter thrombi which migrate from the deep veins of the lower extremities. Contraindications to IVC filter insertion include severe coagulopathy and thrombosis involving all venous access routes, while complications include hematoma at the insertion site, migration or tilting of the device due to poor anchoring in the IVC wall, and vena cava obstruction. A pessary is a prosthetic device used to support pelvic structures when their natural support is lacking. They are usually made of plastic or rubber and inserted into the vagina to aid in the non-operative treatment of uterine prolapse, proctoceles, and cystoceles. They must be properly fitted and removed every few months for cleaning.
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PMID:Radiology rounds. Intrauterine contraceptive device. 821 57

Prolapsed mitral valve prolapse (PMV) is classically associated with disorders of ventricular excitability whose significance is unclear. However, syncope can suggest the possibility of a serious ventricular arrhythmia. The objective of this study was to try to identify the mechanisms of dizziness and syncope associated with PMV. We report the results of programmed atrial and ventricular stimulation performed under baseline conditions and after administration of Isuprel in 56 patients with PMV: 27 patients had a history of presyncope or syncope (group I), 14 had spontaneous atrial or supraventricular tachycardias without dizziness or syncope (group II) and 15 were asymptomatic and investigated for VEBs or conduction disorders (group III). The following results were obtained: In group I, 6 patients experienced sustained inducible ventricular tachycardia (VT); an atrial tachycardia (atrial tachycardia and/or atrial fibrillation) (AT) was also induced in 5 of them. In another 19 patients, a supraventricular tachycardia (SVT) and/or AT was induced. A total of 24 atrial or junctional tachycardias were triggered in this group. In group II, AT and/or SVT were reproduced in 13 out of 14 cases (93%). In group III, AT was triggered in 3 patients (20%). SVT were induced by Isuprel while AT were triggered prior to administration of Isuprel, under baseline conditions, and 3 of them were reproduced during vagal manoeuvres. A ventricular arrhythmogenic effect was observed in two cases in group II while taking class I antiarrhythmics. In conclusion, spontaneous AT and SVT of PMV are easily inducible with a sensitivity of 93%, but are difficult to induce in asymptomatic subjects. The high incidence of TA and SVT in the case of unexplained presyncope in subjects without documented tachycardia therefore appears to be suggestive of a relationship between these presyncopes and AT or SVT. However, the search for VT should take precedence. SVT appear to be catecholaminergic while AT tend to be vagal.
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PMID:[Syncopes associated with mitral valve prolapse. Mechanisms]. 876 45

Mitral prolapse (MP) investigations were performed in 76 pilots. MP occurs in pilots rather frequently and in 15% may be responsible for syncope conditions resultant from cardiac arrhythmia, coronaroangiospastic and hypotonic responses to stress. MP diagnosis requires comprehensive examination combining clinical and special instrumental techniques providing more detailed picture in case of ultrasonic scanning, doppler echocardiography. Clinical complications of MP manifesting as cardiac arrhythmia and blockade, angiospasm etc. should be managed on individual basis, require expert evaluation and follow-up care.
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PMID:[Clinico-functional evaluation of the significance of mitral valve prolapse in flight personnel]. 882 50

We reviewed our clinical and echocardiographic experience in 70 consecutive patients with 73 cardiac myxomas, diagnosed over an 11 year period. There were 21 males and 49 females, ages ranged from 18 to 80 years. Only in 5.7% cases was the diagnosis of myxomas made clinically. 88.6% cases were initially diagnosed as having: mitral valve disease (70%), tricuspid valve disease (10%), ischemic heart disease (5.7%), cardiomyopathy (2.9%), and the remaining 5.7% were detected during family screening and follow-up. The mean duration of symptoms was 10.6 months. The commonest symptom was dyspnoea (80%), followed by constitutional symptoms (45.7%), embolization (30%), palpitation (25.7%), syncope (15.7%), pedal oedema (15.7%) and pain chest (12.9%). The sites of myxomas were as follows: left atrium, 58; right atrium, 9; and, biatrium, 3. All myxomas except 3 were attached to the interatrial septum. The site, size, shape, attachment, mobility, prolapse into ventricle, and surface characteristic of myxomas were accurately assessed by 2D-echocardiography and confirmed in all (65 of 70) who underwent surgery. When the morphological characteristic of myxomas were studied and correlated with clinical features large left atrial myxoma size was closely related with constitutional symptoms, congestive heart failure, with syncope and auscultatory findings suggestive of mitral valve disease, whereas smaller myxoma size and irregular surface were associated with embolization. Constitutional symptoms were only present in left atrial myxoma. Post-operative mean echocardiographic follow-up of 60 months showed no recurrence except in 2 with familial myxoma. We conclude that the majority of myxomas mimic many cardiovascular diseases and were detected in symptomatic patients, so a high index of clinical suspicion is important for its early and correct diagnosis. The size and appearance of the myxomas correlated with the presenting symptoms.
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PMID:Cardiac myxomas: clinical and echocardiographic profile. 957 52

Kearns-Sayre syndrome (KSS) is a multisystem mitochondrial disorder characterized by the invariant triad: onset before 20, progressive external ophthalmoplegia and pigmentary retinal degeneration, plus at least one of the following: complete (or not) heart block, cereberal dysfunction and CSF protein above 100 mg/dl. Autopsies from patients with KSS revealed widespread tissue distribution mtDNA deletions. These deletions result in significantly lower activities of the enzymes of the respiratory chain. The same deletion of mitochondrial DNA present in skeletal muscle is found in myocardial tissue. An 18-year-old girl diagnosed with the KSS was admitted to our hospital because of an upper respiratory tract infection and dysphagia. ECG showed cardiac conduction defects. The patient had no history of syncope. At her surface ECG there was a complete RBBB (QRS duration approximately 130 ms), a clockwise rotation with an axis of approximately 90 degrees and a slight QT prolongation (420 ms). Echocardiography showed prolapse with thickening and degeneration of both mitral valve leaflets but without mitral regurgitation. The patient was started on a diet rich in potassium and pharmaceutical therapy with magnesium oxide (240 mg of elemental Mg p.o. per day), 1 g of calcium carbonate t.i.d., vitamin D (calcitriol 0.25 microg p.o. per day) and coenzyme Q(10) 100 mg daily and discharged 6 days later with slightly improved biochemical profile but apparent clinical improvement. Urgent pacemaker implantation was decided but unfortunately the patient died due to acute cardiac arrest 10 days later.
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PMID:Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayre syndrome. 1200 93

Norepinephrine (NE), a vital neurotransmitter in both the central and peripheral nervous systems, is synthesized by dopamine beta-hydroxylase (DBH) through the oxidation of dopamine (DA) to NE. DBH deficiency is a congenital disorder characterized by severe orthostatic hypotension, ptosis, and retrograde ejaculation. Biochemical features of the syndrome include elevated levels of dopamine, undetectable levels of DBH, undetectable tissue and circulating levels of NE and epinephrine. Molecular genetic analysis studies suggested that DBH deficiency is a Mendelian recessive disorder attributable to heterogenous mutations at the DBH locus. DBH deficiency has been treated effectively with L-threo-3,4-dihydroxyphenylserine (DOPS). DOPS is converted directly to NE through decarboxylation by L-aromatic amino acid decarboxylase (AADC), thereby bypassing DBH. Orthostatic intolerance is a syndrome characterized by lightheadedness, fatigue, altered mentation, syncope, and postural tachycardia. Biochemical features may include plasma NE concentration that is disproportionately high in relation to sympathetic outflow, decreased NE clearance with standing, resistance to the NE-releasing effect of tyramine, and increased sensitivity to adrenergic agonists. A subset of OI patients has pathophysiologic features that have been associated with a genetic polymorphism. The coding mutation, A457P, occurs in one of the alleles of norepinephrine transporter gene of a proband with OI and her family. Alpha-methyl dopa, beta blockers and clonidine, a partial agonist of alpha2-adrenoceptor that acts centrally to reduce sympathetic outflow and lower blood pressure, have been effective in the treatment of this condition. The identification of the genetic polymorphisms involved in the synthesis, transport, storage, and metabolism of the catecholamines may provide new insights into the diagnosis and management of autonomic, cardiovascular, endocrine and psychiatric disorders.
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PMID:The broader view: catecholamine abnormalities. 1210 62


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