Source:http://linkedlifedata.com/resource/pubmed/id/19449412
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
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| pubmed:dateCreated |
2009-6-2
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| pubmed:abstractText |
Congenital heart defects (CHDs) have been estimated to occur in approximately 20% of patients with Brachmann-de Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470). We report on the results of a prospective echocardiographic evaluation of a cohort of 87 Italian BDLS patients with longitudinal follow-up from 5 to 12 years. A cardiac anomaly was identified in 29/87 (33.3%) including 28 (32.2%) patients with a structural CHD, and an additional patient (1.2%) with isolated non-obstructive hypertrophic cardiomyopathy (HCM). Of the 28 patients with a CHD, 12 (42.9%) had an isolated obstructive CHD, 10 of which were pulmonary stenosis (36%), 8 (28.6%) had an isolated left to right shunt, and the remainder showed a combination of structural anomalies. Overall incidence of pulmonary stenosis was 39% (11/28). Isolated late-onset mitral or tricuspid valve dysplasia, albeit hemodynamically insignificant, was detected at follow-up examination in 4 (14.3%) patients older than 10 years, previously known to be normal. In contrast to previous studies, only two patients required surgery, one for closure of a large perimembranous ventricular septal defect (VSD) and associated ASD closure (1), and another for VSD closure and relief of pulmonary valve stenosis (1). The remainder are receiving medical follow-up. We believe that the overall frequency (33.3%) and evidence of 4 late onset dysplastic valves anomalies justifies both echocardiographic assessment in all BDLS patients at the first diagnostic assessment, and later on during medical follow-up.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:status |
MEDLINE
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| pubmed:month |
Jun
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| pubmed:issn |
1552-4833
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| pubmed:author |
pubmed-author:AlloniVivianaV,
pubmed-author:CeredaAnnaA,
pubmed-author:CeruttiMartaM,
pubmed-author:ColliAnna MariaAM,
pubmed-author:DanziGian BattistaGB,
pubmed-author:GalliMaria AlbinaMA,
pubmed-author:GhigliaSilviaS,
pubmed-author:MaitzSilviaS,
pubmed-author:MilaniDonatellaD,
pubmed-author:PassariniAliceA,
pubmed-author:SalicePatriziaP,
pubmed-author:SalviniLauraL,
pubmed-author:SelicorniAngeloA
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| pubmed:copyrightInfo |
(c) 2009 Wiley-Liss, Inc.
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| pubmed:issnType |
Electronic
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| pubmed:volume |
149A
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1268-72
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| pubmed:meshHeading |
pubmed-meshheading:19449412-Adolescent,
pubmed-meshheading:19449412-Adult,
pubmed-meshheading:19449412-Child,
pubmed-meshheading:19449412-Cohort Studies,
pubmed-meshheading:19449412-De Lange Syndrome,
pubmed-meshheading:19449412-Echocardiography,
pubmed-meshheading:19449412-Female,
pubmed-meshheading:19449412-Follow-Up Studies,
pubmed-meshheading:19449412-Heart Defects, Congenital,
pubmed-meshheading:19449412-Heart Septal Defects, Atrial,
pubmed-meshheading:19449412-Heart Valve Diseases,
pubmed-meshheading:19449412-Humans,
pubmed-meshheading:19449412-Infant,
pubmed-meshheading:19449412-Italy,
pubmed-meshheading:19449412-Longitudinal Studies,
pubmed-meshheading:19449412-Male,
pubmed-meshheading:19449412-Prospective Studies,
pubmed-meshheading:19449412-Pulmonary Valve Stenosis,
pubmed-meshheading:19449412-Ventricular Outflow Obstruction,
pubmed-meshheading:19449412-Young Adult
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| pubmed:year |
2009
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| pubmed:articleTitle |
Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome.
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| pubmed:affiliation |
Division of Pediatrics, IRCCS Fondazione Policlinico Mangiagalli e Regina Elena, Milan, Italy. ambulatorio@gencli.it
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| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|