title: Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome.
abstract: Congenital heart defects (CHDs) have been estimated to occur in approximately 20% of patients with Brachmann-de Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470). We report on the results of a prospective echocardiographic evaluation of a cohort of 87 Italian BDLS patients with longitudinal follow-up from 5 to 12 years. A cardiac anomaly was identified in 29/87 (33.3%) including 28 (32.2%) patients with a structural CHD, and an additional patient (1.2%) with isolated non-obstructive hypertrophic cardiomyopathy (HCM). Of the 28 patients with a CHD, 12 (42.9%) had an isolated obstructive CHD, 10 of which were pulmonary stenosis (36%), 8 (28.6%) had an isolated left to right shunt, and the remainder showed a combination of structural anomalies. Overall incidence of pulmonary stenosis was 39% (11/28). Isolated late-onset mitral or tricuspid valve dysplasia, albeit hemodynamically insignificant, was detected at follow-up examination in 4 (14.3%) patients older than 10 years, previously known to be normal. In contrast to previous studies, only two patients required surgery, one for closure of a large perimembranous ventricular septal defect (VSD) and associated ASD closure (1), and another for VSD closure and relief of pulmonary valve stenosis (1). The remainder are receiving medical follow-up. We believe that the overall frequency (33.3%) and evidence of 4 late onset dysplastic valves anomalies justifies both echocardiographic assessment in all BDLS patients at the first diagnostic assessment, and later on during medical follow-up.
authors.affiliation: Division of Pediatrics, IRCCS Fondazione Policlinico Mangiagalli e Regina Elena, Milan, Italy. ambulatorio@gencli.it
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Colli
authors.forename: Alice
authors.initials: A
authors.lastname: Passarini
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.forename: Anna
authors.initials: A
authors.lastname: Cereda
authors.forename: Marta
authors.initials: M
authors.lastname: Cerutti
authors.forename: Silvia
authors.initials: S
authors.lastname: Maitz
authors.forename: Viviana
authors.initials: V
authors.lastname: Alloni
authors.forename: Laura
authors.initials: L
authors.lastname: Salvini
authors.forename: Maria Albina
authors.initials: MA
authors.lastname: Galli
authors.forename: Silvia
authors.initials: S
authors.lastname: Ghiglia
authors.forename: Patrizia
authors.initials: P
authors.lastname: Salice
authors.forename: Gian Battista
authors.initials: GB
authors.lastname: Danzi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D003635:De Lange Syndrome / Q000150:complications / Q000628:therapy*; D004452:Echocardiography / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000150:complications / Q000628:therapy*; D006344:Heart Septal Defects, Atrial / Q000150:complications / Q000628:therapy*; D006349:Heart Valve Diseases / Q000150:complications / Q000628:therapy*; D006801:Humans; D007223:Infant; D007558:Italy / Q000453:epidemiology; D008137:Longitudinal Studies; D008297:Male; D011446:Prospective Studies; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000628:therapy*; D014694:Ventricular Outflow Obstruction / Q000150:complications / Q000628:therapy; D055815:Young Adult