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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Noonan syndrome is a genetic condition inherited in an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic features of Turner's syndrome, but a normal Karyotype. The ophthalmological and orthoptic findings on 58 patients with Noonan syndrome are reported. External features were hypertelorism (74%), downward sloping palpebral apertures (38%), epicanthic folds (39%) and ptosis (48%). The orthoptic examination revealed strabismus in 48%, refractive errors in 61%, amblyopia in 33%, and nystagmus in 9% of cases. Sixty-three per cent of cases had anterior segment changes consisting of: Prominent corneal nerves (46%), anterior stromal dystrophy (4%), cataracts (8%) and panuveitis (2%). Fundal changes occurred in 20% of the study group, including optic nerve head drusen, optic disc hypoplasia, colobomas and myelinated nerves. Forty-seven per cent required non surgical treatment and a further 16% had undergone surgery for strabismus or ptosis. Only three patients had no visual defects. With such a high incidence of ophthalmic abnormalities it is clearly important that children with Noonan syndrome are screened by an ophthalmologist at an early age.
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PMID:Ocular manifestations of Noonan syndrome. 144 72

The authors describe the results obtained during retrospective examinations of 45 subjects who suffered from acute rheumatic fever 10-14 years before. Of these, 19 subjects were treated with prednisolone in the acute disease period, 16 with indomethacin, and 8 subjects with voltaren. The examinations were mostly randomized (30 subjects); no differences in the anti-inflammatory effect were discovered. Heart disease was found in 9 persons (20%). Of these, 6 were treated with prednisolone, 2 with indomethacin, and 1 with voltaren. The disease relapses were recorded in 4 of them, the signs of valvulitis in the past were shown only by 2 persons (echocardiographically). 12 persons (27%) had mitral valve prolapse which had not been diagnosed on the first admission to the hospital, with any clinical signs of hypermotility lacking. In 18 persons (40%) having no valve lesions (disease, prolapse), an x-ray examination revealed a slight increase of the heart size, estimated as a manifestation of postmyocardial cardiosclerosis. Thus, it has been shown that modern anti-inflammatory therapy does not prevent the development of heart disease. Apparently, its onset is related to specific proneness in some of the patients.
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PMID:[The results of a retrospective examination of patients with acute rheumatic fever]. 145 87

In a population-based study of 41 children with bacterial endocarditis (BE), diagnosed in the period 1970 through 1989 in eastern Denmark, we analyzed trends in the diagnosis of BE and in mortality, and searched for possible prognostic factors. During this period the delay in diagnosis from first symptom to treatment did not change, but the delay from admission to treatment was significantly prolonged from 0 to 3 days, despite the introduction of echocardiography (ECHO). There was a significant improvement in the prognosis, the mortality rate having decreased from 40 to 0% [95% confidence limits: 12-74 vs. 0-26 (0.01 less than p less than 0.02)]. The improved prognosis was not explained by changes in the etiology or pattern of antibiotic resistance and may reflect a milder course of BE in children. Children with "mild anomalies"--such as bicuspid aortic valve (n = 5), coarctation of the aorta (n = 2), and prolapse of the mitral valve (n = 2)--had a significantly poorer prognosis than children with other forms of congenital heart disease (CHD) (p = 0.004), a reminder of the importance of suspecting BE in all children with unexplained long-lasting or intermittent fever, because some may have unrecognized "mild" CHD.
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PMID:Bacterial endocarditis in children: trends in its diagnosis, course, and prognosis. 151 37

The clinical value of biplane transesophageal echocardiography (TEE) was assessed on basis of the experience of the first 100 cases. All studies were performed in awake patients, there was no complication or failure. There wee 43 males and 57 females, aged between 13 and 82 years. The indication of TEE was infective endocarditis in 33, congenital heart disease in 25, suspected tumor or thrombus in 18, search for source of embolism in 9, thoracic aortic pathology in 9, prosthetic valve dysfunction in 3 and other problems in 3 cases. Biplane technique provided additional information as compared to single plane TEE in the diagnosis of infective endocarditis (by the visualization of small vegetations and of mitral valve fenestration, and by the differentiation of mitral vegetation from prolapse or aneurysm), in the identification of source of embolism (by easier visualization of patent foramen ovale and of the left atrial appendage thrombus), in the imaging of ascending aorta, of right ventricular outflow tract and of the left ventricular endocardium. Biplane technique enhanced therapeutic decision making particularly in the indications of anticoagulant treatment and in planning certain cardiac operations. Biplane TEE is an easily acquired technique and it will replace single plane TEE in a number of indications.
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PMID:[Clinical use of biplane transesophageal echocardiography]. 157 40

A 52-year-old woman with chronic progressive external ophthalmoplegia (CPEO) with familial hypercholesterolemia (FH) was reported. Her mother died from heart disease, and her elder sister has hypercholesterolemia with swelling of Achilles tendons. She had slowly progressive external ophthalmoplegia, bilateral ptosis, swelling of Achilles tendons since twenties. At 40 years of age, she was pointed out hypercholesterolemia. Physical examination was within normal limits except for bilateral swelling of Achilles tendons. Neurological findings showed bilateral ptosis, disturbance of eye movements, mild proximal muscle weakness and dysesthesia in bilateral hands. Routine laboratory findings were within normal limits except for high serum cholesterol level (512 mg/dl). In the biopsied muscle, there was mild variation in fiber size with several ragged-red fibers and focal cytochrome c oxidase defective fibers. Biochemical analysis of the biopsied muscle revealed normal values in the mitochondrial fraction. Southern blot analysis of the mitochondrial DNA (mtDNA) of the muscle disclosed mixed population of mtDNA, consisting of the normal one and partially deleted (4.9-kilobase). Southern blot analysis of the leukocytes from the patient against the cDNA of LDL receptor was normal at least using the restriction enzyme of BglII, XbaI, EcoRI, PvuII and BamHI. This case has CPEO with deleted mtDNA associated with familial hypercholesterolemia, which is caused to nuclear DNA abnormalities, and is thought to be an important case for us to study the relationship between deleted mtDNA and abnormal nuclear DNA in CPEO.
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PMID:[A case of chronic progressive external ophthalmoplegia associated with familial hypercholesterolemia]. 162 35

Refsum's disease is a polyneuropathy due to a hereditary error in the metabolism of a fatty acid, phytanic acid, usually leading to cardiac failure only at an advanced stage of the disease. The authors report the case of two brothers with Refsum's disease revealed by a heart failure before the clinical stage of the peripheral neuropathy. In the younger brother, the affection started at the age of 22 years by an acute pulmonary oedema which revealed a dilated, hypokinetic myocardiopathy, associated with retinitis pigmentosa, ptosis, anosmia and biological myolysis. The normal plasma concentration of phytanic acid measured several times led to the conclusion of Kearns-Sayre syndrome even if certain aspects were atypical (moderate conduction disorders, no characteristic aspect in the muscle biopsy). Five years later, the older brother, aged 28, presents a dyspnea on effort which leads to the discovery of a hypokinetic, hypertrophic myocardiopathy, slightly dilated, associated with cardiac conduction disorders, retinitis pigmentosa, anosmia and biological myolysis. The plasma concentration of phytanic acid being very high. Refsum's disease was diagnosed and the diagnosis of younger brother was corrected. From the study of these two cases, the characteristics of the cardiac disorders can be specified: the cardiopathy can reveal the disease and correspond to a dilated or hypertrophic myocardiopathy. The diagnosis of the disease can be difficult because the plasma phytanic acid may remain at normal level, thus requiring the assay of the activity of phytanate oxydase. The existence of ophthalmologic signs (retinitis pigmentosa or progressive ophthalmoplegia externa) associated with a myocardiopathy must systematically lead to a search for Refsum's disease, this diagnosis having fundamental therapeutic implications (died, even plasmapheresis).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Refsum's disease. Apropos of 2 cases disclosed by myocardiopathy]. 169 53

The authors present a review on the frequency and causes of cardiogenic systemic embolism and on the influence of damage of the central nervous system on the heart muscle. 10-20% of ischaemic cerebrovascular attacks are of cardioembolic origin. In patients with chronic atrial fibrillation the risk of a cerebrovascular attack is six times higher than in the corresponding population with a sinus rhythm. Views on the preventive administration of anticoagulants differ so far. In extensive myocardial infarctions of the anterior wall thrombi in the left ventricle are present in 30-40%. Thrombolytic treatment affects their formation; so far it is not clear whether it reduces the risk of embolization. With technical advances in echocardiography, and in particular transoesophageal echocardiography, attention is focused on abnormal findings in patients with cerebrovascular attacks without manifest heart disease. Most frequently in these patients a prolapse of the mitral valve is found, a foramen ovale patents, an aneurysm of the atrial septum, sometimes thrombi in the left auricula atrialis of an otherwise quite normal heart. A rare finding are cardiac tumours, systemic embolism being frequently their first clinical manifestation. An indicator of high risk of thromboembolism is probably a spontaneous echo contrast in the left atrium, detected reliably only from an oesophageal approach. In the second part the authors summarize contemporary knowledge on the effect of damage of the central nervous system on cardiac action. Cerebral injury or haemorrhage accompany kinetic disorders of the left ventricle of varying impact. Myocardial damage is caused by a high catecholamine level and can be prevented by administration of beta blockers.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Echocardiographic findings in cerebrovascular accidents]. 175 13

Clinical appearance and misdiagnosis in 27 patients having associated preexcitation syndrome and mitral prolapse have been analyzed. Misdiagnosis of myocardial infarction, rheumatic and congenital heart disease, infectious-allergic myocarditis were most typical errors in this condition identification: in 9, 3 and 2 patients, respectively.
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PMID:[Causes of diagnostic errors in ventricular pre-excitation syndrome associated with mitral valve prolapse]. 187 57

Clinical and necropsy findings are described in 56 patients with mitral valve prolapse: 15 patients, aged 16 to 69 years (mean 39), died suddenly and mitral valve prolapse was the only cardiac condition found at necropsy (hereafter called isolated mitral valve prolapse); the remaining 41 patients had other conditions that were capable of being fatal. Of the latter 41 patients, 7, aged 17 to 59 years (mean 45), had associated congenital heart disease, and 34 patients, aged 17 to 70 years (mean 52), had no associated congenital cardiac abnormalities. Compared with the 34 patients without associated congenital heart disease and with nonmitral valve prolapse conditions capable in themselves of being fatal, the 15 patients who died suddenly with isolated mitral valve prolapse were younger (mean age 39 +/- 17 versus 52 +/- 15 years; p = 0.01), more often women (67% versus 26%; p = 0.008) and had a lower frequency of mitral regurgitation (7% versus 38%; p = 0.02). The 15 patients dying suddenly with isolated mitral valve prolapse also were less likely to have evidence of ruptured chordae tendineae (29% versus 67%; p = 0.04). The frequency of increased heart weight (67% versus 59%), a dilated mitral valve anulus (80% versus 81%), a dilated tricuspid valve anulus (17% versus 17%), an elongated anterior mitral leaflet (86% versus 54%), an elongated posterior mitral leaflet (79% versus 77%) and fibrous endocardial plaque under the posterior mitral leaflet (73% versus 63%) was similar between the two groups. The severity of the prolapse (mild 20% versus 11%; moderate 27% versus 58%; severe 53% versus 32%) also was similar between the two groups. Thus, persons with mitral valve prolapse dying suddenly without another recognized condition tend to be relatively young women without mitral regurgitation.
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PMID:Morphologic comparison of patients with mitral valve prolapse who died suddenly with patients who died from severe valvular dysfunction or other conditions. 199 30

To assess the value of intraoperative transesophageal echocardiographical Doppler color flow imaging (TEE-DCFI) during cardiac valvular surgery, 85 consecutive patients with 102 diseased valves for surgery were studied with pre-and post-operative TEE-DCFI. There were 34 women and 51 men with an age range of 15 to 55 years (mean age, 34.91 +/- 9.33 years). The etiology of valve lesion was rheumatic in 57 (AV 10, MV 47), prolapse in 9 (AV 2, MV 7), endocarditis in 21 (AV 12, MV 3, PV 2, prosthetic infection 4), prosthetic dysfunction in 14 (AV 5, MV 9), congenital in 1 (TV). Preoperative TEE-DCFI findings were helpful either in completing with some new information or changing the operation plan in 29 valves (28.43%) including abscess at aortic root in 1, perforation of aortic valve in 2, perforation of mitral valve leaflets in 5 patients with aortic valvular endocarditis, regurgitation or perivalvular leak of prosthetic valve in 4 MVs and 4AVs, left atrial thrombus detected in 8 and excluded in 3 patients with MV disease, small calcified vegetation on PV with normal valve function in 2 patients with congenital heart disease. Postoperative TEE-DCFI evaluation was performed in 53 patients with 70 diseased valves. There was only one mild regurgitation of mitral bioprosthesis and one mild perivalvular leak of aortic prosthesis detected among 40 replaced prosthetic valves. Of 30 valves repaired 23 (77%) valves had trivial or mild residual regurgitation (Group A) and 7 (23%) had moderate residual regurgitation (Group B). Postoperative congestive heart failure was seen in 6 (26.09%) of Group A and 5 (71.43%) of Group B (P less than 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[The value of using transesophageal echocardiographic Doppler color flow imaging in patients undergoing cardiac valvular surgery]. 208 76


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