A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations

Savina Mannarino, Eitan Keizman, Michele Pasotti, Alessia Claudia Codazzi, Elisabetta De Sando, Alessandro Giamberti

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Williams-Beuren syndrome (WBS) is a genetic disorder caused by elastin gene deletions, and is characterized by cardiovascular malformations, primarily including supravalvular aortic stenosis and peripheral pulmonary stenosis. We report a case of a neonate who developed severe discrete aortic coarctation, underwent multiple surgical interventions, and was subsequently diagnosed with WBS. Severe discrete aortic coarctation is a rare event in WBS newborns. An abnormally thick aortic wall is present in these patients and is the basis of the failure of the classical approach towards coarctation repair, which consists of end-to-end anastomosis as first surgical choice. Our case, and a very few similar previously documented cases, have all demonstrated recoarctation, which only aortic patch implantation was able to successfully repair. In light of this, we would also like to underline the importance of early WBS diagnosis. Therefore, even in mild syndromic phenotype such as low birth weight or facial dysmorphism that raise the suspicion of a genetic syndrome, it is advisable to perform fluorescent in situ hybridization analysis rather than merely karyotypic one.

Original languageEnglish
Article number120
Pages (from-to)6-7
Number of pages2
JournalPediatria Medica e Chirurgica
Volume37
Issue number2
DOIs
Publication statusPublished - 2015

Fingerprint

Williams Syndrome
Aortic Coarctation
Supravalvular Aortic Stenosis
Newborn Infant
Inborn Genetic Diseases
Pulmonary Valve Stenosis
Elastin
Gene Deletion
Low Birth Weight Infant
Therapeutics
Fluorescence In Situ Hybridization
Phenotype

Keywords

  • Aorta
  • Coarctation
  • Pediatric surgery
  • Williams Beuren syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery

Cite this

A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations. / Mannarino, Savina; Keizman, Eitan; Pasotti, Michele; Codazzi, Alessia Claudia; De Sando, Elisabetta; Giamberti, Alessandro.

In: Pediatria Medica e Chirurgica, Vol. 37, No. 2, 120, 2015, p. 6-7.

Research output: Contribution to journalArticle

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