Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

M. Cristina Digilio, Flaminia Calzolari, Rossella Capolino, Alessandra Toscano, Anna Sarkozy, Andrea De Zorzi, Bruno Dallapiccola, Bruno Marino

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1815-1819
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number14
Publication statusPublished - Jul 15 2008


  • Cardiovascular malformations
  • Congenital heart defect
  • Conotruncal heart defects
  • Facio-auriculo-vertebral spectrum
  • Goldenhar syndrome
  • Hemifacial microsomia
  • Oculo-auriculo-vertebral spectrum
  • Tetralogy of Fallot

ASJC Scopus subject areas

  • Genetics(clinical)


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