Document Detail

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
MedLine Citation:
PMID:  18553555     Owner:  NLM     Status:  MEDLINE    
The oculo-auriculo-vertebral spectrum (OAVS) is a non-random association of microtia, hemifacial microsomia with mandibular hypoplasia, ocular epibulbar dermoid, and cervical vertebral malformations. Congenital heart defects (CHDs) have been reported in 5-58% of the patients. We analyze the frequency and anatomic features of CHD in a series of 87 patients with OAVS examined between January 1990 and February 2007 with normal chromosomes, ranging in age between 0.1 and 16.8 years. A twin pregnancy occurred in eight cases (dizygotic in six cases and monozygotic in two). CHDs were diagnosed in 28/87 (32%) patients, and classified into categories of postulated developmental mechanisms including 9 (32%) atrial and ventricular septal defects, 11 (39%) conotruncal defects, 4 (14%) targeted growth defects, two (7%) with situs and looping defects, one (4%) with a left-sided obstructive lesion and one (4%) with patent ductus arteriosus. As noted in other series, the most common individual CHDs were ventricular septal defect (six patients) and tetralogy of Fallot (TOF) (classic or with pulmonary atresia) (six patients). Comparing the frequencies of CHDs groups observed in the OAVS patients with the findings of the Emilia-Romagna Registry which ascertained CHDs prevalence in the general population, conotruncal defects, targeted growth defects, and heterotaxia were significantly associated with OAVS.
M Cristina Digilio; Flaminia Calzolari; Rossella Capolino; Alessandra Toscano; Anna Sarkozy; Andrea de Zorzi; Bruno Dallapiccola; Bruno Marino
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-23     Completed Date:  2008-08-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1815-9     Citation Subset:  IM    
Copyright Information:
2008 Wiley-Liss, Inc.
Medical Genetics and Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy.
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MeSH Terms
Child, Preschool
Diseases in Twins / genetics
Goldenhar Syndrome / complications*,  genetics*
Heart Defects, Congenital / complications*,  genetics*,  pathology
Heart Septal Defects, Ventricular / complications,  genetics
Tetralogy of Fallot / complications,  genetics
Twins, Dizygotic
Twins, Monozygotic

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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