Airway in the oculo‐auriculo‐vertebral spectrum: Two cases and a review of the literature

McCarthy, Vincent P.; Zimo, Deborah A.; Lucas, Melinda A.

doi:10.1002/ppul.1115

Cited by 14 publications

(6 citation statements)

References 33 publications

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“…The prevalence of CHDs in OAVS ranges from 5% to 58%, 19 with septal and conotruncal defects occurring more commonly 1,19–24 . Other CHDs reported in OAVS include situs and looping defects, 19,25,26 and pulmonary anomalies associated with vascular malformations 19,24,27,28 …”

Section: Introductionmentioning

confidence: 99%

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

et al. 2021

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Oculo‐auriculo‐vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occurrence of copy number variants (CNVs) in a cohort of 19 unrelated OAVS individuals with congenital heart defect. Chromosomal microarray analysis identified pathogenic CNVs in 2/19 (10.5%) individuals, and CNVs classified as variants of uncertain significance in 7/19 (36.9%) individuals. Remarkably, two subjects had small intragenic CNVs involving DACH1 and DACH2, two paralogs coding for key components of the PAX‐SIX‐EYA‐DACH network, a transcriptional regulatory pathway controlling developmental processes relevant to OAVS and causally associated with syndromes characterized by craniofacial involvement. Moreover, a third patient showed a large duplication encompassing DMBX1/OTX3, encoding a transcriptional repressor of OTX2, another transcription factor functionally connected to the DACH‐EYA‐PAX network. Among the other relevant CNVs, a deletion encompassing HSD17B6, a gene connected with the retinoic acid signaling pathway, whose dysregulation has been implicated in craniofacial malformations, was also identified. Our findings suggest that CNVs affecting gene dosage likely contribute to the genetic heterogeneity of OAVS, and implicate the PAX‐SIX‐EYA‐DACH network as novel pathway involved in the etiology of this developmental trait.

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Section: Introductionmentioning

confidence: 99%

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

et al. 2021

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“…Cardiac laterality defects in the setting of visceral heterotaxia [Maat-Kievit et al, 1994;Gorgu et al, 1998;Lin et al, 1998] and pulmonary anomalies associated with vascular defects [Pierpont et al, 1982;Kumar et al, 1993;McCarthy et al, 2001] have been reported. Similar to what occurs in other genetic disorders, the presence and the type of CHD is the clinical feature which most commonly influences prognosis of individuals with OAVS [Hess et al, 1979].…”

Section: Introductionmentioning

confidence: 99%

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

Digilio

Calzolari

Capolino

et al. 2008

American J of Med Genetics Pt A

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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.

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“…Furthermore, a wide variety of vascular defects have been reported, including right ascending aorta, coarctation of the aorta, pulmonary stenosis, transposition of the great vessels, patent ductus arteriosus, a left superior vena cava and totally anomalous pulmonary venous return. Cases of a vascular ring have also been reported previously [9,10].…”

Section: Discussionmentioning

confidence: 81%

Respiratory complications and Goldenhar syndrome

Jacobs

Noordegraaf

Golding

et al. 2007

Breathe

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A 29-year-old female was referred to hospital with progressive asthmatic complaints. On presentation, the patient had been experiencing orthopnoea, an audible wheeze during daily activities, and sporadic coughing without sputum production. The patient had a history of recurrent airway infections and a 5-kg weight loss during the previous year, and had stopped smoking several years before. She was known to have oculo-auriculo-vertebral (OAV) syndrome, i.e. Goldenhar syndrome, which is a developmental disorder involving mainly first and second branchial arch anomalies.On physical examination, she was not dyspnoeic at rest, and had a respiratory rate of 14 breaths·min -1 , pulse 80 beats·min -1 , blood pressure 110/70 mmHg and temperature 37.9°C. The left hemifacial structures and the left hemithorax were underdeveloped. A chest examination revealed a systolic heart murmur grade 2/6 over the apex, and inspiratory and expiratory wheezing over both lungs. There was no oedema or clubbing. Arterial blood gas analysis showed a partial pressure of O 2 of 12.4 kPa and partial pressure of CO 2 of 4.5 kPa. Routine blood analysis and chemistry were normal. Chest radiography was performed (figure 1). Respiratory complications and Goldenhar syndrome Task 1Interpret the chest radiograph.

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Airway in the oculo‐auriculo‐vertebral spectrum: Two cases and a review of the literature

Cited by 14 publications

References 33 publications

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

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

Respiratory complications and Goldenhar syndrome

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