Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?

Walsh, Timothy A.; Gopagondanahalli, Krishna Revanna; Malhotra, Atul

doi:10.1155/2017/3480980

Cited by 4 publications

(4 citation statements)

References 17 publications

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“…Two cases of CLE in WBS have been reported, however, the correlation between this is still to be confirmed (Walsh et al, 2017;Wong & Fiorino, 2012).…”

Section: Discussionmentioning

confidence: 93%

“…The association between WBS and respiratory diseases, in particular COPD and emphysema, is not well defined and has so far been reported in only two papers (Wan et al, 2010; Wojcik et al, 2017). Two cases of CLE in WBS have been reported, however, the correlation between this is still to be confirmed (Walsh et al, 2017; Wong & Fiorino, 2012).…”

Section: Discussionmentioning

confidence: 99%

“…An association between WBS and congenital lobar emphysema (CLE) was described in other two case reports (Walsh, Gopagondanahalli, & Malhotra, 2017;Wong & Fiorino, 2012).…”

mentioning

confidence: 89%

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Pulmonary function in Williams–Beuren syndrome: Spirometric data of 22 Italian patients

Pangallo

Cianci

Favuzza

et al. 2020

American J of Med Genetics Pt A

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Williams-Beuren syndrome (WBS) is caused by an haploinsufficiency of the 7q11.2 region which involves the elastin gene (ELN). A deficiency of elastin is a known pathophysiological mechanism of emphysema/chronic obstructive pulmonary disease (COPD). A previous study hypothesized a higher risk of COPD in WBS patients.Herein, this phenomenon was further investigated looking for a possible correlation between COPD and WBS. Dynamic lung volumes (forced vital capacity [FVC], FEV1, FEV1/FVC) were measured in 22 patients (age range 18.9 ± 7.4 years) affected with WBS, genetically confirmed, correlating these parameters to respiratory risk factors.Dyspnea, cough and wheezing were detected in 6/22 (27%) patients. Obstructive and restrictive patterns were identified in 6/22 (27%) and 2/22 (9%) cases, respectively with no evidence of irreversible obstruction. CVF, FEV1 and FEV1/CVF mean values were all normal, with values of 91.3% (n.v. > 80%), 84.2% (n.v. > 80%) and 0.82 (n.v. > 0.7), respectively. The severity of the comorbidities did not show a cause-effect relation with the respiratory patterns, nevertheless patients treated with anti-hypertensive drugs had poorer pulmonary function. Our findings are in accordance with previous observations, showing that emphysema/COPD is not a typical finding in young patients with WBS. However, a respiratory function assessment should be included in the follow-up of WBS patients, especially in adolescents/young adults under treatment with anti-hypertensive drugs.

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“…Two cases of CLE in WBS have been reported, however, the correlation between this is still to be confirmed (Walsh et al, 2017;Wong & Fiorino, 2012).…”

Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

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Pulmonary function in Williams–Beuren syndrome: Spirometric data of 22 Italian patients

Pangallo

Cianci

Favuzza

et al. 2020

American J of Med Genetics Pt A

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“…The condition occurs in 1:7500 live births [ 11 ], with elastin-mediated disease features including SVAS and early skin wrinkling [ 12 , 13 , 14 ]. While rare cases of congenital lobar [ 15 , 16 ] or adult onset emphysema [ 17 , 18 ] in people with WS have been published, cohort data has been limited. One study presented 16 young adults with WS and an average age of 20 years [ 17 ].…”

Section: Introductionmentioning

confidence: 99%

Airflow Obstruction in Adults with Williams Syndrome and Mice with Elastin Insufficiency

et al. 2022

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Williams–Beuren syndrome (WS) results from the deletion of 25–27 coding genes, including elastin (ELN), on human chromosome 7q11.23. Elastin provides recoil to tissues; emphysema and chronic obstructive pulmonary disease have been linked to its destruction. Consequently, we hypothesized that elastin insufficiency would predispose to obstructive features. Twenty-two adults with WS (aged 18–55) and controls underwent pulmonary function testing, 6 min walk, and chest computed tomography (CT). Lung and airspace dimensions were assessed in Eln+/− and control mice via microCT and histology. The forced expiratory volume in 1 s (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) were lower in adults with WS (p < 0.0001 and p < 0.05, respectively). The FEV1/FVC ratio was more frequently below the lower limit of normal in cases (p < 0.01). The ratio of residual volume to total lung capacity (RV/TLC, percent predicted) was higher in cases (p < 0.01), suggesting air trapping. People with WS showed reduced exercise capacity (p < 0.0001). In Eln+/− mice, ex vivo lung volumes were increased (p < 0.0001), with larger airspaces (p < 0.001). Together these data show that elastin insufficiency impacts lung physiology in the form of increased air trapping and obstruction, suggesting a role for lung function monitoring in adults with WS.

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<p>Congenital lobar emphysema: diagnosis and treatment options</p>

Demir¹,

Hangül²,

Köse³

2019

COPD

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Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?

Cited by 4 publications

References 17 publications

Pulmonary function in Williams–Beuren syndrome: Spirometric data of 22 Italian patients

Pulmonary function in Williams–Beuren syndrome: Spirometric data of 22 Italian patients

Airflow Obstruction in Adults with Williams Syndrome and Mice with Elastin Insufficiency

<p>Congenital lobar emphysema: diagnosis and treatment options</p>

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