Cardiovascular abnormalities in the oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)

Abstract

We describe the phenotypic characteristics of 25 individuals with oculo-auriculo-vertebral spectrum (OAVS) and its variants, seen in Northern Ireland between 1969-1989, with special reference to cardiovascular defects. We report the type and prevalence of cardiovascular findings and also estimate the minimum prevalence rate of OAVS to be 1 in 45,000.

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. [4] The study of this condition is still controversial because the symptoms and the physical features vary greatly in range and severity from case to case.…”

“…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...…”

Golden-Har Syndrome

“…Hemifacial hypoplasia is a rare occurrence. Cardiac [4] and genitourinary [5] anomalies have also been reported.…”

Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum

“…12,13 Estimates of learning disability* (LD) in OAV/GS have often ranged from 5 to 15%, 2 but there have been some reports of higher rates. Morrison et al 14 described LD in 36% of a group of 25 patients with 'OAV spectrum and its variants'. However, in this study, exclusion of five patients, in which information about LD was not available, would have given a rate of 45%.…”