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)

The frequency and significance of mitral valve prolapse (MVP) were assessed in 35 patients with idiopathic ventricular tachycardia (VT) (12 with sustained VT and 23 with nonsustained VT). They were classified as MVP and non-MVP groups according to their results of two-dimensional echocardiography. The frequency and characteristics of MVP in idiopathic VT, symptoms during VT, QRS configurations on electrocardiogram during VT, and induction of VT in electrophysiologic study were evaluated. MVP was recognized in 12 (34.3%) of 35 patients with idiopathic VT, all of whom had mild prolapse of the anterior leaflet. The frequency of MVP in patients with sustained VT was higher than that in patients with nonsustained VT (58.3% vs 21.7%, p < 0.05). Of all the symptoms during VT, palpitation was most frequently observed in the MVP group (66.7%), while no characteristic symptom was observed in the non-MVP group. This symptomatic difference was considered to be attributable to different patterns of VT duration. QRS configurations during VT showed monomorphism in all patients. The right bundle branch block pattern was dominant in the MVP group (91.7%), while the left bundle branch block pattern was prominent in the non-MVP group (69.6%) (p < 0.01), suggesting that VT mainly originated in the left ventricle in the MVP group and in the right ventricle in the non-MVP group. The induction rate of VT by programmed ventricular stimulation was higher in the MVP group (58.3%) than in the non-MVP group (34.8%) (p < 0.07) and was considerably higher in patients with sustained VT (75.0%) than in patients with nonsustained VT (26.1%) (p < 0.01). However, there was no significant difference in the induction rates between patients with sustained VT in the MVP and non-MVP groups. The difference in the VT induction rates between the 2 groups may be related to other factors besides the duration of VT. In conclusion, the incidence of MVP was relatively high in patients with idiopathic VT, and the difference of the clinical and electrophysiologic characteristics of idiopathic VT may depend on whether MVP is present or not.
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PMID:[Mitral valve prolapse in idiopathic ventricular tachycardia: clinical and electrophysiologic characteristics]. 184 22

Episodic mitral regurgitation due to ischaemia of one or both papillary muscles was studied in a review of 39 cases with complementary investigations and compared with previously reported data. The condition occurred after myocardial infarction in 69 p. 100 of cases (usually after inferior infarction: 54 p. 100) associated with ischaemia of the controlateral territory; there was no history of myocardial infarction in 31 p. 100 of cases. The patients were usually elderly (73 years), often hypertensive (77 p. 100) and diabetic (62 p. 100). The clinical syndrome was that of severe anginal pain, mitral regurgitation and left ventricular failure which was critical in some cases. The ECG showed typical ST depression (4.1 +/- 1.6 mm) especially in the antero-lateral leads; left bundle branch block (28 p. 100) with left axis deviation (18 p. 100), sometimes associated with changes of chronic infarction (64 p. 100) was also recorded. Mitral regurgitation and left ventricular failure regressed almost completely in typical cases between attacks, whilst the ECG showed slight residual sub-endocardial ischaemia (ST depression of 1.5 +/- 0.4 mm) in 30 cases and/or subepicardial ischaemia observed in the anterolateral leads in 13 cases. Phonomechanographic recordings (n = 32) showed moderate mitral regurgitation (1-2/6), usually parasystolic (47 p. 100) or early and mid systolic (36 p. 100) in 87.5 p. 100 of cases between attacks, aggravated by handgrip exercise and improved by trinitrin administration. Echocardiography (n = 27) only showed mitral valve changes in 2 patients (increased density of the papillary muscle in 1 case and prolapse of the anterior leaflet in 1 case); however, segmental wall hypokinetic (51 p. 100) or dyskinetic (15 p. 100) motion, was common with increased left ventricular end diastolic dimensions (mean 56.3 +/- 8.0 mm) and decreased fractional shortening (mean 0.30 +/- 0.07) (67 p. 100). Left atrial dimensions were increased (mean 39.7 +/- 6.4 mm) in 52 p. 100 of patients. Thallium 201 myocardial scintigraphy (n = 32) showed hypofixation in 57 (36 p. 100) and a lacuna in 23 (14 p. 100) of the 160 segments analysed. Left ventricular angioscintigraphy (n = 27; 135 segments) showed hypokinesia in 72 segments (53 p. 100); 2.7 segments per patient), akinesia in 19 segments (15 p. 100; 0.7 segment per patient) and dyskinesia in 2 segments (1.5 p. 100); 0.1 segment per patient). The global ejection fraction was 46 +/- 13 p. 100. Coronary angiography (n = 8) showed significant diffuse atherosclerosis.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Paroxysmal mitral insufficiency caused by ischemic dysfunction of the papillary muscles. Apropos of 39 cases]. 391 82

The Kearns-Sayre (K-S) syndrome which includes the triad of progressive external ophthalmoplegia, pigment retinopathy, and disorder of cardiac conduction was first described in 1958. The mitochondria disorder is believed to be the cause of this syndrome. Involvement of the cardiac conduction system is the most importent prognostic factor in K-S syndrome. A 34-year-old male K-S syndrome patient, manifesting as ptosis and weakness of limbs since the age of 15 years, suffered from dizziness and weakness. Twelve-lead eletrocardiography (ECG) showed a 2:1 atrioventricular (AV) block with slow ventricular rate. Intermittent complete AV block, complete left bundle branch block and torsades de pointes were noted in Holter ECG. The electrophysiology study demonstrated prolonged HV interval (85 ms) on conduction beat and infra-His block on non-conduction beat. A VVIR mode of permanent pacemaker was implanted and the patient's condition was stable during this period of follow-up.
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PMID:Atrioventricular block in Kearns-Sayre syndrome: a case report. 1155 73

This study reports on experience with transcatheter closure of congenital ventricular septal defects (VSDs) with Amplatzer septal occluders. From January 2000 to April 2005, transcatheter Amplatzer device implantation was attempted in 122 patients with congenital VSD (30 with muscular, 87 with perimembranous, and 5 with residual postsurgical repair of conotruncal malformations). Patient mean age was 15 years (range, 6 months to 64 years), and mean weight was 35 kg (range, 5.8 to 102 kg). The VSD mean size was 7 mm (range, 4 to 16 mm), mean Qp/Qs was 2.1 (range, 1.3 to 4), and mean fluoroscopy time was 32 minutes (range, 5 to 129 minutes). All procedures were performed with the patient under general anesthesia and guided by fluoroscopy and transesophageal echocardiography. The device size chosen was usually 1- to 2-mm larger than the maximum defect size as assessed by either the echocardiographic or angiographic views that were judged most reliable. Amplatzer muscular devices were placed in 47 patients, and the membranous devices were placed in 72 patients. The procedure was not performed in 3 patients with perimembranous VSD because of the impossibility of achieving an adequate long sheath position in 1 patient, onset of complete atrioventricular (AV) block during catheter manipulation in 1 patient, and the presence of aortic valve prolapse preventing a safe device placement in 1 patient. Satisfactory device implantation was achieved in 119 of 122 patients (97.5%): a tiny smoke-like residual flow through the device was often seen immediately after the procedure (50%); residual shunting was detectable in 19% after 24 hours and in only 4% at 6 months. The following additional catheter interventions were performed simultaneously: balloon pulmonary valvuloplasty in 3 patients, device closure of atrial septal defects in 2 patients, coil occlusion of the arterial duct in 1 patient, stenting coarctation in 1 patient, and stenting of the right pulmonary artery in 1 patient. Minimal aortic regurgitation developed in 3 patients, and minimal tricuspid regurgitation in 3 patients; no patient required additional treatment. Device embolization occurred in 3 patients (1 patient with muscular VSD, 2 with perimembranous VSD); catheter retrieval and implantation of a second device was successfully performed in all patients. Transient left bundle branch block occurred in 2 patients, and transient first-degree AV block in 1 patient. Among the perimembranous VSD cases, complete AV block occurred acutely (within 48 hours) in 3 patients, requiring a pacemaker in 1 patient; complete heart block occurred in the other 2 patients after 5 and 12 months, requiring pacemakers. There was no mortality. Transcatheter closure of muscular and perimembranous VSDs offers encouraging results: 96% complete closure at midterm follow-up. Complications are limited; the most relevant appears to be device-related complete heart block in perimembranous VSD. Greater experience and long-term follow-up are required to assess the safety and effectiveness of this procedure as an alternative to conventional surgery.
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PMID:Transcatheter closure of congenital ventricular septal defect with Amplatzer septal occluders. 1639 93

Dynamin2 (DNM2) gene mutations may result in Charcot-Marie-Tooth disease and centronuclear myopathy. Here, we present a patient suffering from cardiomyopathy and centronuclear myopathy with repetitive discharges and mild axonal neuropathy due to DNM2 mutation. Detailed cardiological and neurological examinations, electrophysiological tests, muscle biopsy, and molecular genetic analysis were performed. The patient developed left bundle branch block at age 40 and was fitted with a pacemaker at the age of 43. The patient has severe heart failure, ptosis, strabism, facial and proximal muscle weakness. Electrophysiological investigations found myopathy, complex repetitive discharges, and axonal neuropathy. Skeletal muscle biopsy detected centronuclear myopathy and cytochrome C oxidase (COX) negative fibers. Genetic analysis detected a pathogenic c.1105C>T (p.R369W) DNM2 gene mutation and heteroplasmic multiple mitochondrial DNA (mtDNA) deletion. Our data broadens the phenotypic spectrum of DNM2 mutations. The presence of the multiple mtDNA deletions may provide new aspects to understanding the pathogenesis of multisystemic symptoms in patients with DNM2 mutations.
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PMID:The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. 2549 87