TY - JOUR
T1 - Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
AU - Digilio, M. Cristina
AU - Calzolari, Flaminia
AU - Capolino, Rossella
AU - Toscano, Alessandra
AU - Sarkozy, Anna
AU - De Zorzi, Andrea
AU - Dallapiccola, Bruno
AU - Marino, Bruno
PY - 2008/7/15
Y1 - 2008/7/15
N2 - 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, conotaincal defects, targeted growth defects, and heterotaxia were significantly associated with OAVS.
AB - 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, conotaincal defects, targeted growth defects, and heterotaxia were significantly associated with OAVS.
KW - Cardiovascular malformations
KW - Congenital heart defect
KW - Conotruncal heart defects
KW - Facio-auriculo-vertebral spectrum
KW - Goldenhar syndrome
KW - Hemifacial microsomia
KW - Oculo-auriculo-vertebral spectrum
KW - Tetralogy of Fallot
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U2 - 10.1002/ajmg.a.32407
DO - 10.1002/ajmg.a.32407
M3 - Article
C2 - 18553555
AN - SCOPUS:48949118168
VL - 146
SP - 1815
EP - 1819
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 14
ER -