title: End-stage ischemic heart failure and Williams-Beuren syndrome: A unique scenario for pediatric heart transplantation.
abstract: WBS is a rare disorder caused by mutations in the chromosomal sub-band 7q11.23 involving the elastin gene. The clinical features (craniofacial, developmental, and cardiovascular abnormalities) are variable. The association with cardiac anomalies is a well-recognized feature, and SVAS is the most common cardiac defect found. End-stage ischemic heart disease is unusual in this setting but when it occurs, OHT remains the final therapeutic option. This decision can be difficult to determine, and it must be tailored to the individual patient based on the clinical status and concomitant cardiovascular and multisystem lesions. To date, no cases of OHT in patients with WBS have been described. We present a 14-month-old patient with WBS who developed severe LV dysfunction secondary to ischemia following a complex staged surgery for SVAS repair. He underwent successful OHT with no post-operative complications, and at three-month follow-up, he remains asymptomatic on standard immunosuppressive therapy. This case constitutes the first demonstration that OHT may be indicated for extended survival in selected children with WBS and we discuss the basic principles for extending the indication for OHT to this scenario as well as the particularities for post-transplant care.
authors.affiliation: Pediatric Cardiac Surgery Department, Gregorio Marañón Hospital, Madrid, Spain.|Gregorio Marañón Health Research Institute - Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, Spain.
authors.forename: María-Teresa
authors.initials: MT
authors.lastname: González-López
authors.affiliation: Pediatric Cardiac Surgery Department, Gregorio Marañón Hospital, Madrid, Spain.|Gregorio Marañón Health Research Institute - Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, Spain.
authors.forename: Ramón
authors.initials: R
authors.lastname: Pérez-Caballero-Martínez
authors.affiliation: Pediatric Cardiology Department, Pediatric Heart Institute - "12 de Octubre" Hospital, Madrid, Spain.
authors.forename: Miguel-Ángel
authors.initials: MÁ
authors.lastname: Granados-Ruiz
authors.affiliation: Pediatric Cardiac Surgery Department, Pediatric Heart Institute - "12 de Octubre" Hospital, Madrid, Spain.
authors.forename: Enrique
authors.initials: E
authors.lastname: García-Torres
authors.affiliation: Gregorio Marañón Health Research Institute - Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, Spain.|Pediatric Cardiology Department, Gregorio Marañón Hospital, Madrid, Spain.
authors.forename: Reyes
authors.initials: R
authors.lastname: Álvarez-García-Rovés
authors.affiliation: Gregorio Marañón Health Research Institute - Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, Spain.|Pediatric Cardiology Department, Gregorio Marañón Hospital, Madrid, Spain.
authors.forename: Nuria
authors.initials: N
authors.lastname: Gil-Villanueva
authors.affiliation: Gregorio Marañón Health Research Institute - Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, Spain.|Pediatric Cardiology Department, Gregorio Marañón Hospital, Madrid, Spain.
authors.forename: Manuela
authors.initials: M
authors.lastname: Camino-López
authors.affiliation: Pediatric Cardiac Surgery Department, Gregorio Marañón Hospital, Madrid, Spain.|Gregorio Marañón Health Research Institute - Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, Spain.
authors.forename: Juan-Miguel
authors.initials: JM
authors.lastname: Gil-Jaurena
mesh_terms: D006328:Cardiac Catheterization; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004549:Elastin / Q000235:genetics; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics / Q000601:surgery*; D006333:Heart Failure / Q000150:complications / Q000235:genetics / Q000601:surgery*; D016027:Heart Transplantation / Q000379:methods*; D006439:Hemodynamics; D006801:Humans; D007037:Hypothyroidism / Q000150:complications; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007223:Infant; D007511:Ischemia / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D016896:Treatment Outcome; D018487:Ventricular Dysfunction, Left / Q000235:genetics / Q000601:surgery; D018980:Williams Syndrome / Q000150:complications / Q000235:genetics* / Q000601:surgery
chemical_list: D007166:Immunosuppressive Agents; D004549:Elastin
keywords: Williams-Beuren; arterial stenosis; coronary stenosis; heart failure; heart transplantation; ischemia