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)

31 cases of ASD with mitral incompetence have been reviewed. The aetiology of the mitral incompetence is most frequently congenital, contrary to the classical view. The usual mitral defect is a combination of gaping of posterior commissure with a narrow valvular opening. The usual angiocardiographic picture is one of prolapse of the mitral valve. One of the characteristic findings, which has already been reported in the literature, is of redundant valve tissue, with myxomatous degeneration (one case confirmed histologically). Surgery is indicated in every case. Conservative mitral surgery gives satisfactory results in the mid-term.
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PMID:[Atrial spetal defects of the ostium secundum type with mitral valve insufficiency. Apropos of 31 cases]. 82 31

The prognosis for 45,X/46,XX mosaicism diagnosed prenatally has yet to be established. We report our experience with 12 patients in whom prenatal diagnosis of 45,X/46,XX mosaicism was detected by amniocentesis for advanced maternal age or decreased maternal serum alpha-feto protein and compared them with 41 45,X/46,XX patients diagnosed postnatally. The girls in the prenatal group range in age from 3 mo to 10 years. All have had normal linear growth. Four had structural anomalies including: ASD (n = 1); ptosis and esotropia (n = 1); labial fusion (n = 1); and urogenital sinus, dysplastic kidneys, and hydrometrocolpos (n = 1). Gonadotropins were measured in seven; one had elevated luteinizing hormone/FSH at 3 mo of age. One has developmental delay and seizures as well as ophthalmologic abnormalities. None would have warranted karyotyping for clinical suspicion of Turner syndrome. The prevalence of 45,X/46,XX mosaicism is 10-fold higher among amniocenteses than in series of postnatally diagnosed individuals with Turner syndrome, which suggests that most individuals with this karyotype escape detection and that an ascertainment bias exists toward those with clinically evident abnormalities. The phenomenon of a milder phenotype for the prenatal group is similar to that observed for 45,X/46,XY diagnosed prenatally. Prenatal counseling for 45,X/46,XX in the absence of such ultrasound abnormalities as hydrops fetalis should take into account the expectation of a milder phenotype (except, possibly, with respect to developmental delay) than that of patients ascertained postnatally. The same does not hold true for 45,x diagnosed prenatally.
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PMID:Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome. 766 95

The miniaturization of transesophageal echocardiography (TEE) probes, together with the development of the capability for biplane imaging from the esophagus, have increased the use of TEE in pediatric cardiology. The aim of this study was to evaluate the TEE findings in patients with ventricular septal defect (VSD) before and after closure primarily by means of pediatric biplane probes. This study group included 69 patients who underwent VSD closure as an isolated repair or as a part of a definitive repair of a more complicated lesion. Ages ranged from 6 days to 15.6 years (median 1 year, 4 months), with operative weights ranging from 2.9 kg to 68 kg (median 10 kg). Preoperative and follow-up transthoracic echocardiograms (TTE) were also performed. Intraoperative TEE was performed without complication in all 69 patients. Preoperative results: (1) anatomic findings: Two muscular VSDs were detected by matrix TEE but could not be observed by TTE. A patient with preoperative TTE diagnosis of an ostium primum ASD was found to have atrioventricular (AV) canal by TEE. In three of six AV canal type VSDs, both TTE and TEE demonstrated left ventricular-right atrial shunting (2) aortic regurgitation associated with VSD: Aortic regurgitation as a result of right coronary cusp prolapse was detected in one of five supracristal VSDs in which the biplane or matrix TEE was used.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Evaluation of ventricular septal defect by transesophageal echocardiography: intraoperative assessment. 812 6

Cardiac surgeons have hesitated to perform valvuloplasty for MR caused by elongated or ruptured chordae of the anterior leaflet (AL) of the mitral valve. We experienced three cases of successful chordal reconstruction (CR) to the AL last year. Two of them were due to elongation of all chordae tendineae to the AL. Four CRs, one chordal shortening, cleft closure and ring annuloplasty (AP) were performed in one case, and 8 CRs to the AL, two to the posterior leaflet, commissural closure and ring AP in another. In the third case 2 CRs combined with Reed's AP, closure of ASD and tricuspid AP were performed. The MR disappeared in one case and improved to grade I in others postoperatively. NYHA classes improved from class III or IV to I or II postoperatively. The MRs have not increased 6 to 12 months after the surgery. The CR with PTFE suture enabled to do the valvuloplasty for the chordal abnormalities of the AL without valve resection. This technique seems to be adequate for repairing a major prolapse of the AL caused by multiple chordal abnormalities.
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PMID:[Chordal reconstruction with polytetrafluoroethylene (PTFE) suture for mitral regurgitation caused by prolapsed anterior leaflet]. 828 11

We present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth-finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son has less striking facial features but was born with a small omphalocele, large ASD secundum, PDA, bilateral cryptorchidism right hydronephrosis, and a cystic left kidney. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized.
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PMID:Teebi hypertelorism syndrome: report of a family with previously unrecognized findings. 1243 2