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)

Among 119 cases of fatal dissecting aneurysm of the aorta, exclusive of those iatrogenically caused or associated with arachnodactyly or aortic stenosis, there were observed 11 cases of congenital bicuspid aortic valve (9%). The ages ranged from 17 to 69 years, five of the patients being 29 years old or younger. Among the latter, three had coarctation of the aorta and one had Turner's syndrome without coarctation. In one of the older patients, aortic insufficiency was present. Hypertension was either established or inferred from cardiac weight in 73% of the cases. In each case, cystic medial necrosis of the aorta was present. Prolapse of valves other than the aortic was observed in 45% of the cases with bicuspid aortic valve. Compared to an estimated incidence of bicuspid aortic valve of about 1 to 2% in the population, the high incidence among subjects with dissecting aneurysm suggests a causative relationship between bicuspid aortic valve and aortic dissecting aneurysm.
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PMID:Dissecting aortic aneurysm associated with congenital bicuspid aortic valve. 63 1

Strikingly similar abnormalities were present in two severely retarded children, an 8-year-old boy and a 12-year-old girl, who were first cousins once removed. Dysmorphic features included high bulging forehead with frontal upsweep of hair, flat, wide glabella and nasal bridge, maxillary hypoplasia, ptosis, dacryostenosis, dolichostenomelia, hyperextensible fingers with subluxation in proximal interphalangeal joints, hypoplastic external genitalia, and overconstriction of the shafts of all long bones. Both patients had unbalanced karyotypes, with duplication of the distal third of the short arm of chromosome 2, resulting from the same balanced reciprocal translocation prestne in both mothers: der (2), t(2;7)(p23;q36)mat. Seven additional translocation carriers were identified in four generations of this kindred.
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PMID:The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred. 98 8

Two first cousins, the offspring of consanguineous marriages, had features suggestive of Marden-Walker syndrome. Phenotypic similarities and differences for Schwartz-Jampel syndrome have been discussed. Main features of the Marden-Walker syndrome are failure to thrive, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly. Peculiar facies is due to blepharophimosis, congenital ptosis, hypoplastic mandible and low-set and malformed ears. Posterior median cleft of the palate as well as cardiac and renal anomalies were noted in the case reported by Marden and Walker. Our Case 2 had dextrocardia. The present report suggests autosomal recessive inheritance of this syndrome.
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PMID:Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. 122 20

Clinical, radiologic, electrocardiographic and 2-dimensional echocardiographic findings of fifty cases of mitral valve prolapse syndrome attending the Pediatric Cardiology clinic of I.C.H. and Childrens Hospital, Medical College, Kottayam over a period of ten years from 1980-1989 are presented. Mitral valve prolapse syndrome (MVPS) accounted for 2% of cardiac problems attending our pediatric cardiology clinic. Isolated MVPS constituted 64% of the cases. The common causes of secondary MVPS were Marfan Syndrome-18%, Atrial Septal Defect-10% and Rheumatic fever-8%. Associations of MVPS included Pectus excavatum (8%), Isolated arachnodactyly (2%) and Straight back syndrome (2%). 2-D echocardiogram demonstrated prolapse of both leaflets of Mitral valve in 44%, Isolated posterior mitral valve leaflet prolapse in 32% and Isolated anterior mitral valve leaflet prolapse in 24% of cases. No complications were seen during follow up.
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PMID:A clinical profile of mitral valve prolapse syndrome. 213 7

The association of primary mitral valve prolapse (MVP) with thoracic bony abnormalities has led to the suggestion that MVP may be a forme fruste of the Marfan syndrome. Echocardiographic, skeletal and anthropometric findings in 59 subjects with primary MVP and 59 age- and sex-matched patients with Marfan syndrome were compared with those in 59 control subjects. Subjects with mitral prolapse were similar to control subjects and differed (p less than 0.025 to p less than 0.001) from the patients with Marfan syndrome in aortic root dimensions, height, arm span, upper/lower segment ratio and prevalences of arachnodactyly, scoliosis and pectus carinatum. Subjects with mitral prolapse and patients with Marfan syndrome had similar body mass indexes and prevalences of pectus excavatum and straight back. All 3 groups were similar in arm span/height ratio. The 5 subjects with MVP and arachnodactyly had lower weights, smaller body surface areas and smaller aortic root dimensions, and were more likely to have scoliosis than subjects with MVP without arachnodactyly. Thus, primary MVP differs from the Marfan syndrome in all major skeletal and cardiovascular features.
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PMID:Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome. 291 33

Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understand simple directions, and acquire a limited vocabulary. In childhood, many are hyperactive. Clinical features include low birth weight, normal birth length, and initial poor feeding and thriving. Musculo-skeletal systems are affected: there are joint contractures, long thin limbs, and striking arachnodactyly. There is abnormal implantation of the thumb, increased space between the first and second fingers, and excess digital creases. Marfan syndrome was a provisional diagnosis for several cases prior to cytogenetic analysis. Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens dislocation is not observed. Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, microphthalmia, prominent nasal bridge, small mouth, thin upper lip with down-turned corners, and slight retrognathia. In older children, retrognathia is diminished and the nose becomes long and narrow. The new culture and chromosome banding techniques enable sorting of cases with the distal dup 9q phenotype into two groups. The cases with a longer dup 9q are more likely to develop with life-threatening congenital anomalies. The cases with the shorter dup 9q34 have a less severe long-term prognosis and will benefit, together with their parents, from special education. Female carriers of the inv ins(9) (q22.1q34.3q34.1) have about a 31% risk in each pregnancy to conceive a fetus affected by the dup 9q34 syndrome. A comparable figure is not yet available for male carriers.
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PMID:Duplication 9q34 syndrome. 661 95

We reported six patients with Marfan's syndrome, studied retrospectively from May 1990 to April 1992 in the department of Cardiology in Dakar. Morphological, cardiovascular, skeletal and ocular abnormalities have been reviewed. All the patients had been evaluated by echocardiography. Prevalence of Marfan's syndrome among congenital heart diseases during this period was 4.8%. The mean age was 27.6 years. The mean height was 1.80 m (range 1.38-2.02 m) for a mean weight of 62.8 kg. All the patients had dolichostenomely and arachnodactyly. Kyphosis or scoliosis was present in 5 cases. Chest deformities (pectus carinatum and excavatum) were present in 5 cases. 5 patients had hyperextensible joints. 5 patients had ocular abnormalities. Cardiac pathology was found in 5: mitral prolapse with insufficiency in 2; mitral prolapse with aortic dystrophy in 2; and isolated dilatation of ascending aorta in an other. One patient with diffuse Marfan's syndrome died of cardiac failure. Our study confirm polymorphic manifestations of Marfan's syndrome and the frequency of cardiac abnormalities which are the major determinants of life-prognosis in these patients. Echocardiography is very useful as a noninvasive method for defining the extent of cardiovascular involvement and following its course, for more appropriate treatment.
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PMID:[Cardiovascular manifestations of Marfan's syndrome apropos of 6 cases]. 865 85

The authors studied the prevalence of mitral valve prolapse (MVP) in the group of 656 children and adolescents (329 males and 327 females), who were a representative sample (obtained with the Monte Carlo method of statistical trials) of all newborns in the city of Maribor, Republic of Slovenia, in the period of 18 years (1976-1992). The results were considered positive in children and adolescents who in addition to possible history (chest pain, palpitations, dizziness, loss of consciousness, headaches, perspiration), probable auscultatory finding (mezzosystolic click and late systolic murmur), and suspected phonocardiographic and ECG findings, also had a positive M-mode echocardiographic finding. The criteria for MVP on M-mode echocardiography were taken from the literature: descending of mitral cusp, either anterior or posterior, of at least 3 mm below the line connecting points C and D. Children and adolescents were divided into six age groups (infants, toddlers, preschool children, early school age, children in puberty, adolescents). Assuming MVP as a cause of cardiac arrhythmias, beside standard ECG we also performed holter ECG monitoring in 61 children and adolescents (29 with MVP, 32 without MVP). The results were tested with standard statistical tools (chi 2-test, Student t-test, 2 x 2 Fisher chi 2-test). MVP was found in 71 patients (10.8%, 32 males and 39 females). As regards age and sex we found lower prevalence of MVP in male children (9.7%) compared to female children (11.9%). The highest prevalence was found in early school age, more so in females (14.2 vs 13.7). The differences were not statistically significant (p > 0.05). In both sexes most frequent was endosystolic prolapse (males 59.3%, females 51.3%). Most commonly both cusps are involved in the prolapse (males 78.1%, females 66.7%). Most frequently measured descending of the cusps was 3-4.5 mm (males 56.2%, females 48.7%). Negative auscultatory finding (silent MVP) was detected in 47.8% of the patients with MVP. Most patients with diagnosed MVP had no symptoms (71.8%). The prevalence of asymptomatic MVP declines with age in both sexes. The prevalence of arrhythmias, both in standard ECG and holter ECG, is higher in patients with MVP (6.8:0%--NS and 44.6%:9.3%--p < 0.05). The influence of constitutional changes (dolichostenomelia, asthenic constitution, genua valga) on the appearance of MVP is reflected in statistically significant difference in the Rohr' index in the group of patients with MVP in relation to the healthy group (p < 0.05). The higher prevalence of headache and dizziness in the group with MVP is statistically significant (p < 0.05).
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PMID:[The mitral valve prolapse syndrome in children and adolescents]. 991 77

An infant with neonatal Marfan syndrome is described who presented with arachnodactyly, distinctive dysmorphic features and prolapse of both atrioventricular valves and dilatation of both the aortic and pulmonary root. She died in cardiac failure shortly after pacemaker implantation, due to dysrhythmia and severe mitral insufficiency. At autopsy, apart from myxomatous changes of the valves and dilated aortic and pulmonary roots, an aneurysm of the sinus of Valsalva of the pulmonary valve and abnormal myxomatous connective tissue surrounding the AV node were also found. Molecular genetic studies showed a point mutation in the fibrillin 1 gene that creates a new N-glycosylation site, which has been described once before.
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PMID:Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. 1009 May 57

We report a series of 9 children with neonatal Marfan syndrome. The diagnosis was made on a striking facial dysmorphia associated with arachnodactyly type skeletal anomalies. They all had cardiovascular anomalies: aortic dilatation 9 times, and mitral and/or tricuspid valve prolapse 8 times. Three children underwent ascending aorta replacement with the Yacoub technique. There was one operative death in a young infant and the two survivors required further surgery for gross mitral insufficiency and an aneurysm of the horizontal aorta. Three children died before the age of 1 year from cardiac insufficiency linked to massive leaks of all the valves. The three youngest children in the series did not undergo any procedure and were followed up for a slowly growing dilatation of the initial aorta. The prognosis of neonatal Marfan syndrome is weighted with a heavy mortality. The timing of surgical intervention in case of excessive dilatation of the aortic root is difficult to determine. It depends not only on the aortic diameter but also on the aortic valve function and the existence of other mitral or tricuspid lesions. Surgical treatment for lesions of the initial aorta and the atrioventricular valves improves the short-term prognosis but the risk of re-intervention is higher.
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PMID:[Marfan syndrome in the newborn and infants less than 4 months: a series of 9 patients]. 1208 46


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