Perioperative morbidity in children with elastin arteriopathy

Latham, Gregory J.; Ross, Faith J.; Eisses, Michael J.; Richards, Michael J.; Geiduschek, Jeremy M.; Joffe, Denise

doi:10.1111/pan.12967

Cited by 39 publications

(21 citation statements)

References 29 publications

(67 reference statements)

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“…25 Individuals with biventricular outflow tract obstruction are at the greatest risk. 19,26 Sudden death in WS (1 per 1000 patient-years) 27 may be related to abnormalities of the coronary arteries (ostial or diffuse stenosis or dilatation) 28 or biventricular outflow…”

Section: Cardiovascularmentioning

confidence: 99%

Health Care Supervision for Children With Williams Syndrome

Morris

Braddock

2020

Pediatrics

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This set of recommendations is designed to assist the pediatrician in caring for children with Williams syndrome (WS) who were diagnosed by using clinical features and with chromosome 7 microdeletion confirmed by fluorescence in situ hybridization, chromosome microarray, or multiplex ligation-dependent probe amplification. The recommendations in this report reflect review of the current literature, including previously peer-reviewed and published management suggestions for WS, as well as the consensus of physicians and psychologists with expertise in the care of individuals with WS. These general recommendations for the syndrome do not replace individualized medical assessment and treatment. Williams syndrome (WS), also known as Williams-Beuren syndrome, is caused by a deletion of part of chromosome 7 and is a multisystem disorder that was first identified as a distinct clinical entity in 1961. 1 It is present at birth with a prevalence of 1 in 7500 2 and affects boys and girls equally. Children with WS usually come to the attention of pediatricians during infancy or early childhood. WS is characterized by dysmorphic facies (100%), cardiovascular disease (80%; most commonly supravalvular aortic stenosis [SVAS]), intellectual disability (75%), a characteristic cognitive profile (90%), and idiopathic hypercalcemia (15% to 45%). 1,3-7 The deleted portion of chromosome 7q11.23 seen in WS is 1.5 to 1.8 Mb and contains 26 to 28 genes. 3,4,8 It includes the ELN gene that codes for the structural protein elastin, which is an important component of the elastic fibers found in the connective tissue of many organs. The ELN deletion explains some of the characteristics of WS, such as some of the facial features, hoarse voice, inguinal hernia, bladder and bowel diverticula, cardiovascular disease, and orthopedic problems. The pathogenesis of other characteristics, such as intellectual disability, is likely attributable to deletion of contiguous genes in the region. Most deletions in the WS region are de novo. Affected individuals have a 50% chance of transmitting the deletion to offspring. A specific inversion

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Section: Cardiovascularmentioning

confidence: 99%

Health Care Supervision for Children With Williams Syndrome

Morris

Braddock

2020

Pediatrics

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“…Cognitive and behavioral deficits are common, and multiple organs and tissues can be affected (see Table ) . In addition, patients with WBS, in particular those with biventricular outflow tract obstruction and/or coronary ostial stenosis, are at risk for sudden death, especially when undergoing perioperative or periprocedural sedation, requiring careful anesthetic management and monitoring . The risk of death is also present in patients with elastin arteriopathy (due to mutation or deletion of the elastin gene) in the absence of other features of WBS.…”

Section: Genetic Architecture Of Chdmentioning

confidence: 99%

Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes

Russell

Chung

Kaltman

et al. 2018

JAHA

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“…However, the risk of cardiac arrest or sudden death is significant in SVAS patients, especially with severe biventricular outflow tract obstruction or age less than 3 years. 132 Myocardial perfusion imaging can assess CA perfusion without deep sedation. Although relatively low specificity in children is a major limitation, its usefulness in patients with SVAS has been reported in children as young as 2.5 years.…”

Section: Figure 26mentioning

confidence: 99%