The prevalence and clinical impact of pulmonary artery sling on school‐aged children: A large‐scale screening study

ORIGINAL RESEARCH ARTICLEPurpose: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS. Methods:In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations. Conclusion:Knowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.

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“…23 This would make pulmonary artery sling more common in MWS patients, and we can therefore consider it a sign that may lead us to suspect MWS.…”

Section: Discussionmentioning

confidence: 99%

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivanovski

Djurić

Caraffi

et al. 2018

Genetics in Medicine

131

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“…These patients present with significant airway obstruction and biphasic stridor, or with difficulty at intubation for another procedure. This abnormality frequently occurs concomitantly with congenital cardiovascular defects, particularly pulmonary artery slings, 67 can vary from a single complete ring to a segment that is the length of the trachea, and can include bronchial cartilage rings. Over the decades many procedures were used for treatment, with limited success and high mortality.…”

Section: Complete Tracheal Ringsmentioning

confidence: 98%

Pediatric Stridor

Ida

Thompson

2014

Otolaryngologic Clinics of North America

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Pediatric stridor is an important symptom of upper airway obstruction, and must be recognized early by evaluating physicians. Proper evaluation and management, both acutely and chronically, can provide improved outcomes and better quality of life for patients. This article discusses the physiology of stridor and its intimate relation to airway anatomy, the work-up of the stridorous child, and recent advances in treatment, and provides illustrative examples of common lesions.

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“…2,3,5,6 Likewise our patient, the male sex was predominant in many studies such as the series of Yu and Gikonyo who reported 72% and 60% of male patients respectively. 2,5 Although there are 3 theories to explain this vascular malformation, none is unanimous. The first one state it is a total absence of development of the LPA and the blood supply comes from the RPA.…”

Section: Discussionmentioning

confidence: 88%

“…The respiratory signs are not specific and may include wheezing, stridor, dyspnea on effort, coughing and recurrent infections of lower airways. 2 In ideal situation, 3 the diagnosis is made by echocardiogram while the bronchoscopy accesses the bronchial stenosis. The treatment is strictly surgical and classically consists of cutting the LPA then reimplanting it on the pulmonary artery (PA) main stem by sternotomy and cardiopulmonary bypass (CPB).…”

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confidence: 99%

The Management of Left Pulmonary Artery Sling in Senegal: Our Experience from One Case

Lèye

Ba²,

Mbengue

et al. 2017

Cardiovasc. j.

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Introduction:Pulmonary artery sling is a rare congenital heart disease in which the LPA is originating from the RPA then encircling the distal trachea and the right main bronchus. 1 This is a malformation that is often revealed while investigating respiratory distress and congenital heart disease in infants. The respiratory signs are not specific and may include wheezing, stridor, dyspnea on effort, coughing and recurrent infections of lower airways. 2 In ideal situation, 3 the diagnosis is made by echocardiogram while the bronchoscopy accesses the bronchial stenosis. The treatment is strictly surgical and classically consists of cutting the LPA then reimplanting it on the pulmonary artery (PA) main stem by sternotomy and cardiopulmonary bypass (CPB). Tracheal repair is indicated if the patient is clinically symptomatic. We report a case of PAS in a 5.5 years old boy diagnosed in the Department of Cardiology of the University Hospital of Fann Dakar then successfully repaired in Monaco. Case report:AD, a boy of 5.5 years old was admitted for dyspnea with stridor occurring on exercise. There was no dizziness, sweating or cyanosis. On the previous medical history, a recurring bronchitis is reported but there was no consanguinity and the pregnancy was followed up to deliverance. He was hospitalized twice at the ages of 2 months old and 3.5 months old respectively for dyspnea and stridor that were treated by salbutamol puff and physiotherapy. The physical examination showed a good growth regarding the weight (21 Kg) and height (121cm) which were corresponding to Z score -0.94. The cardiovascular examination was normal with oxygen saturation at 98%. The respiratory examination showed suprasternal retraction and expiratory wheezing. There were no abnormal findings in the liver, ENT and dental areas. On the chest X rays, cardiac outline, pulmonary

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The prevalence and clinical impact of pulmonary artery sling on school‐aged children: A large‐scale screening study

Cited by 62 publications

References 26 publications

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Pediatric Stridor

The Management of Left Pulmonary Artery Sling in Senegal: Our Experience from One Case

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