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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1991-6-21
pubmed:abstractText
Cardiovascular anomalies have been studied in 13 subjects (8 males and 5 females, average age 15 +/- 7 years) affected from fragile X syndrome. This group has been examined by standard-ECG, Holter-ECG, echocardiography (M-mode, B-mode, Doppler and color-Doppler). The results have been compared with a control group of 39 subjects (20 males and 19 females, average age 15 +/- 5 years), with non genetic mental retardation. Clinical examination, ECG and Holter did not show any significant pathological alteration compared with the results of the control group. In the study group echocardiography showed the following results: 10 subjects (77%) had mitral valve prolapse of the anterior leaflet (arching); 4 of which (31%) with associated posterior leaflet prolapse; 2 subjects (15%) with posterior aortic leaflet prolapse; 2 subjects (15%) with tricuspid septal leaflet prolapse; 3 subjects (23%) had mild pulmonary artery dilatation; 1 subject (8%) had a mild aortic regurgitation; in 9 subjects (69%), 3 of whom with pulmonary artery dilatation, has been found pulmonary valve regurgitation; 10 subjects (77%) had tricuspid valve regurgitation. In all subjects cardiac dimensions were within the normal range. The most important result, in accordance with literature, is the high prevalence of mitral valve prolapse. The prolapse is asymptomatic and silent. We have never found aortic root dilatation that was described by other Authors. The described anomalies could be ascribed at the dysfunction of the connective tissue. This theory has been confirmed by necropsy studies. Therefore, we suppose that these alterations, particularly the anterior mitral leaflet prolapse, are non casually associated with the fragile X syndrome.
pubmed:language
ita
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0393-1978
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
857-62
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
[Cardiovascular aspects of Martin-Bell syndrome].
pubmed:affiliation
IRCCS OASI Istituto per la Ricerca sul Ritardo Mentale e l'Involuzione Cerebrale, Servizio di Cardiologia, Troina, Enna.
pubmed:publicationType
Journal Article, English Abstract