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 21-year-old man had acute aortic insufficiency three months after insertion of an aortic valve prosthesis. Chest roentgenography demonstrated abnormal orientation of the prosthesis. M-mode echocardiography showed dense, linear echoes from the prosthetic valve between the interventricular septum and the mitral valve, along with loss of normal poppet motion within the aortic root. At surgery, the prosthesis was found to be extensively disrupted, resulting in prolapse into the left ventricular outflow tract. Another valve replacement was performed with patient survival. Echocardiography appears to be a useful adjunct to established roentgenographic procedures in the diagnosis of major dehiscence of prosthetic aortic valves.
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PMID:Major dehiscence of a prosthetic aortic valve: detection by echocardiography. 44 45

A 21-year old women taking oral contraceptives suffered thromboembolic stroke associated with mitral valve prolapse. She had been using an unspecified oral contraceptive for 3 months postpartum, and had smoked a pack a day for 5 years. She complained of sudden right orbital headache, left-sided weakness and pain. Clinical exam showed left sided anopsia, facial paralysis, tongue protrusion, parietal sensory deficit, and loss of position sense. Computed tomography suggested a lesion near the right middle cerebral artery; and cerebral angiography revealed an 8 x 2 mm filling defect in that artery. A midsystolic click without a murmur was evident in the cardiac exam. Thickened, redundant mitral valve leaflets with marked prolapse, and a mass on the atrial side of the posterior leaflet appeared on the echocardiogram. The atrial thrombus was considered the source of the apparent embolism in the cerebral artery. Oral contraceptives have been found to increase the risk of thrombotic stroke and venous thromboembolism. Therefore, women with known mitral valve prolapse or leaflets may be advised not to use the pill.
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PMID:Embolic stroke in a woman with mitral valve prolapse who used oral contraceptives. 374 65

A 21 year old patient was operated for bilateral ptosis and external ophthalmoplegia at 13 years of age. At this time there were no signs of retinitis pigmentosa or atrioventricular block, features of the Kearns and Sayre Syndrome (1958) which were detected five years later. His bundle recording showed an intrahisian block (1 degree proximal and a complete distal block) with a trifascicular block, the latter persisting alone during a brief return to sinus rhythm. This is one of the rare cases of the Kearns and Sayre Syndrome with documented His bundle recordings and the only reported case with intrahisian block. The patient also suffered from bilateral neural deafness. The patient's condition remains stable after implantation of an isotopic cardiac pacemaker and he now leads a normal life. A review of 52 previously published cases shows that this rare condition appears to be caused by a mitochondrial abnormality, which, for an unknown reason, affects only the neuromuscular and cardiac conduction systems. The prognosis is poor when swallowing and respiration are affected, but this does not occur in all cases. As cardiac conduction abnormalities are the other life-threatening complication, cardiac pacing has greatly improved the prognosis of these patients.
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PMID:[Auriculo-ventricular block in the Kearns-Sayre syndrome. Apropos of a case]. 640 30

Cardiac involvement of mucopolysaccharidosis has not been well characterized by echocardiography. In this paper, we reported a case of Hunter syndrome with special reference to the noninvasive diagnosis of cardiac anomalies. A 21-year-old male of Hunter syndrome was referred to our noninvasive laboratory for the evaluation of his heart murmurs. He was strikingly dwarfed, 115 cm in height and 28 kg in weight, and had apparently Gargoyle-like facial appearance. Physical examination disclosed a mild funnel chest and a loud systolic murmur. Blood pressure was 98/56 mmHg and regular pulse rate was 100/min. The chest X-ray film revealed a shift of the heart to the left with a prominent pulmonary artery segment. There were no signs of pulmonary congestion. The electrocardiogram demonstrated right axis deviation, clockwise rotation and left atrial overload. In phonocardiograms, a basal ejection and an apical scratchy systolic murmurs were recorded. The latter was associated with a presystolic murmur and a loud first heart sound. A loud pulmonary second heart sound was also present. Outstanding findings were observed in the two-dimensional and M-mode echocardiograms, which showed remarkable thickening of both mitral valve leaflets with reduced opening. There was also generalized thickening of tricuspid and aortic valves, and endocardium of the free ventricular wall. Two leaflets of the tricuspid valve were visualized to prolapse, but the aortic valve motion appeared intact. In addition, echocardiograms revealed the dilatation of right-sided cardiac chambers and pulmonary artery, but the size of the left ventricle was rather small. Pulsed Doppler echocardiography demonstrated systolic turbulence in the right atrium in the vicinity of the tricuspid valve orifice. Stenotic turbulence was also recorded in the inflow tract of the left ventricle during diastole. Thus, the final diagnosis of predominant mitral stenosis associated with tricuspid valve prolapse and pulmonary hypertension was obtained. In conclusion, cardiac involvements in Hunter syndrome were precisely evaluated by noninvasive methods. Hunter syndrome may be considered as one of the etiologies producing mitral stenosis.
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PMID:[Echocardiographic manifestations of the heart in the Hunter syndrome: report of a case]. 682 Nov 4

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

A 21 year-old woman was admitted to our hospital because of chest and back pain after blunt chest trauma. On admission, consciousness was clear and a physical examination showed labored breathing. Her vital signs were stable, but her breathing gradually worsened, and artificial respiration was started. The chest roentgenogram and a subsequent chest computed tomographic scans revealed contusions, hemothorax of the left lung and multiple rib fractures. A transthoracic echocardiography (TTE) revealed normal left ventricular wall motion and mild mitral regurgitation (MR). TTE was carried out repeatedly, and revealed gradually progressive MR and prolapse of the posterior medial leaflet, although there was no congestive heart failure. After her general condition had recovered, surgery was performed. Intraoperative transesophageal echocardiography (TEE) revealed torn chordae at the posterior medial leaflet. The leaflet where the chorda was torn was cut and plicated, and posterior mitral annuloplasty was performed using a prosthetic ring. One month later following discharge, the MR had disappeared on TTE.
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PMID:Mitral valve plasty for mitral regurgitation after blunt chest trauma. 1148 Oct 26

A 21-year-old woman had congenital mitral regurgitation. Echocardiography showed absence of the anterolateral papillary muscle and corresponding marginal chordae. This rare abnormality was corrected by anterolateral commissural annuloplasty and insertion of artificial chordae to prevent prolapse of the anterior leaflet. Postoperatively, there was no regurgitation, and an appropriate mitral valve area was achieved.
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PMID:Congenital mitral regurgitation from absence of the anterolateral papillary muscle. 1160 74

A 21-year-old male is described with camptodactyly, skeletal changes, ptosis and infertility, which suggests a novel malformation syndrome distinct from other camptodactyly syndromes.
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PMID:Camptodactyly, skeletal changes, ptosis and infertility in a male: a new syndrome? 1166 8

A 21-year-old woman described proximal muscle weakness since early childhood. At age 16, she developed bilateral ptosis, progressive external ophthalmoplegia, and exercise intolerance. She harbored a heteroplasmic G12315A mutation in the mitochondrial DNA tRNA(Leu(CUN)) gene, which disrupts a highly conserved G-C base pair in the TPsiC stem of the molecule. Mutant mitochondrial DNA was 62% of total in muscle and 17% in blood. The mutation was undetectable in blood, urinary sediment, and hair follicles from the patient's mother. This second patient with G12315A and progressive external ophthalmoplegia confirms the pathogenicity of the mutation and helps to define the correlation between genotype and phenotype.
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PMID:Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA. 1239 39

Isolated left ventricular noncompaction cardiomyopathy (IVNC) is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects. A 21-year-old man presented to the emergency department with worsening exertional dyspnea during the previous 2 months. Two-dimensional and Doppler echocardiography revealed an enlarged left atrium (LA) and a markedly dilated left ventricle (LV) with preserved LV systolic function, severe mitral valve regurgitation, and prolapse due to chordae rupture. The myocardium of the LV and right ventricle (RV) had excessively prominent trabeculations and deep intertrabecular recesses. He is the first patient in Korea who has undergone mitral valve replacement surgery because of severe mitral valve regurgitation and prolapse due to chordae rupture accompanied by IVNC.
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PMID:Isolated left ventricular noncompaction cardiomyopathy accompanied by severe mitral regurgitation. 1999 46


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