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

Abstract

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.

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study

“…However, we did not find any patients with these cytogenetic abnormalities. Thus, our results were similar to those of Tasse et al 6 and Digilio et al 7 As already described in the literature, we also observed cases of OAVS relating to drug or teratogenic exposure in pregnancy in our sample. These included one patient with gestational exposure to fluoxetine 29 and another to retinoic acid.…”

Craniofacial abnormalities in goldenhar syndrome: a case report with review of the literature

“…Despite the reported frequency of cardiovascular alterations ranging from 5% to 58%, [17][18][19][20] this patient had no cardiovascular alterations. Similarly, other systemic abnormalities including pulmonary, genitourinary, and/or gastrointestinal were not present in our patient.…”

“…[7] In the early 1990's, this condition was better understood and it was agreed that, this syndrome may exhibit a wide range of anomalies that includes eye anomalies, [7] disturbance of the central nervous system, cleft lip/cleft palate, [7] facial asymmetry, developmental dental disturbances, [12] skeletal anomalies, [7] mental retardation, [4,11,13] vertebral [14][15][16] and congenital heart anomalies, [17][18][19][20] growth abnormalities, [21] pulmonary abnormalities, [15] and labyrinthine, tracheoesophageal, [15] renal [15,16,22] and genitourinary abnormalities [ Table 1]. [17,20] Its estimated prevalence is 1-9/100,000, [13] with an incidence of 1 in 25,000-45,000 births, [28] with a male to female ratio of 3:2.…”

“…Bilateral [14] 3 Anopthalmos/micropthalmos [15,16,24,25] 10-53 Strabismus/nystagmus [4,24] Duane retraction syndrome [14,24] Decreased corneal sensation [4,14,16] Cataract and iris abnormalities [4,15,16] Neuroparalytic keratitis Dacryostenosis [24] Proptosis [16] Auricular abnormalities [20,23,25,26] 82-100 External ear [20,26] 82-100 Preauricular appendages and pits [19,25,26] 53-90 Bilateral [14] 30 Ear abnormalities Microtia [25,26] 50-100 Bilateral [26] 18-50 Anotia [25] 16.60 Atresia of outer ear canal Stenosis of outer ear canal Middle ear [18,26] 67-75 Incomplete development of the tympanic cavity Opacifi ed middle ear Agenesis of the middle ear Hypoplasic/agenesis of the tympanic cleft Hypoplastic/displaced ossicular chain Widened or decreased tympanic cavity …”

“…Corpus callosum dysgenesis [27] 12 Frontal hypodensities [27] 12 Mental retardation [3,15,20] 23-82 Intracranial dermoid/calcifi cations [15] 30 Encephalocele [15] 13 Facial nerve paralysis [2,3,20,24] 12 Asymmetric lateral ventricles [15] Hidrocephalus due to aqueduct of sylvius stenosis [24] Corpus callosum lipoma [24] Hypoplastic/absence of septum pellucidum [15] Hypothalamic hamartoma [24] Open myelomeningocele Arnold-Chiari malformation Frontal lobe dysplasia Calcifi ed anterior falx cerebri seizures Cardiac abnormalities [2,9,17,[18][19][20]24] 5-58 Conotruncal/outlet defects [2,19,24] 38.5-45 Fallot's tetralogy [15,24] 15-50 Intraventricular communication with pulmonary atresia [24] 8 Transposition of great vessels [2] Double inlet of the left ventricle Septal defects [2,19,24] 23-32 Interatrial communication ostium secundum Interventricular communication Atrioventricular septal defect Others Patent ductus arterious [19] 4 Pulmonary artery stenosis [19] 4 Cor triatriatum [24] Dextrocardia Contd...…”