Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat–Wilson syndrome

Abstract

Mowat-Wilson syndrome is a genetic condition due to a mutation in the ZEB2 gene; it affects many systems including the cardiovascular system. The pulmonary arterial sling originates from a failure of development of the proximal portion of the left sixth aortic arch, resulting in an anomalous left pulmonary artery origin from the posterior wall of the right pulmonary artery and the left pulmonary artery crossing to the left lung between the trachea and the oesophagus. We present a 4-month-old infant with Mowat-Wilson syndrome and left pulmonary arterial sling, and discuss the association of these two rare conditions. Pulmonary arterial sling is significantly more frequent in patients with Mowat-Wilson syndrome than in the general population.

Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome

“…In addition, to ensure proper aortic arch development, E-cadherin signaling is required to be repressed by ZEB2 expression. This may represent the underlying pathophysiology of the cardiac anomalies commonly seen in MWS patients such as pulmonary artery sling and bicuspid aortic valve, which were also observed in affected individual 2 in the present study [Cano Sierra et al, 2018]. Considering all the anomalies involving the craniofacial skeleton, enteric ganglia, central nervous system, and aortic arches, it appears that MWS results from developmental defects of the neural crest cells and, therefore, is considered a neurocristopathy.…”

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies

“…16 This highlights the utility of a wide-scope diagnostic test such as clinical exome in the setting of patients with developmental delay/intellectual disability and multiple congenital malformations, and adds MWS to the long list of potential differential diagnoses of NS and related RASopathies. 17 In Colombia, as far as we know, only four cases of MWS have been published, [18][19][20][21] from which, only one reported the genetic variant and it was a 2q22.32-q22.3 deletion, 19 including the KYNU, ARHGAP15, GTDC1 and ZEB2 genes. Hence, this is the first report of the c.2761C>T, (p.Arg921Ter) genetic variant in the country.…”

A rare association of left pulmonary artery sling with right pulmonary hypoplasia and total anomalous pulmonary venous connection

“…Only a few reports have described the association of left pulmonary artery sling with chromosomal abnormalities, such as trisomy 18 10 and 21. 11 Recently, Cano Sierra et al 12 reported that pulmonary arterial sling is significantly more frequent in patients with Mowat-Wilson syndrome than in the general population. Mowat-Wilson syndrome, a multiple congenital anomaly/mental retardation syndrome, is a genetic condition due to a mutation in the Zinc finger E-box-binding homeobox 2 (ZEB2) gene, previously called ZFHX1B (SIP1) on chromosome 2.…”