CARDIOVASCULAR DISORDERS AMONG PERSONS WITH DOWN SYNDROME

Author(s):
Vis, J.C.; Engelen, K. van; Bouma, B.J.; Bilardo, C.M.; Blom, N.A. (0000-0002-4823-6974); Mulder, B.J.M.; Urbano, R.C.
Published
2010
Publication type
Article / Letter to editor

Abstract

Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most frequent chromosomal cause of intellectual disability (Frid, Drott, Lundell, Rasmussen, & Anneren, 1999). It is a multisystem disorder, characterized by various congenital defects, organic disorders, dysmorphic features, and other health-related problems (Roizen & Patterson, 2003). The heart is affected frequently and the association between Down syndrome and congenital heart disease was already recognized by Garrod in 1894 (Richards, 1965). Although a critical region on chromosome 21 as well as several candidate genes has been proposed, the genetic basis and pathogenesis of congenital heart defects in Down syndrome remain largely unknown. Cardiovascular disorders related to Down syndrome are numerous. Here, we review prenatal screening, intrauterine interventions, and management of congenital heart defects in early childhood. Moreover, we discuss cardiovascular manifestations in adulthood, in particular pulmonary arterial hypertension and cardiac surgery in adults with Down syndrome.

congenital heart-disease syndrome critical region atrial septal-defects pulmonary arterial-hypertension atheroma-free model gene-expression subclinical hypothyroidism nuchal translucency syndrome phenotypes vascular-disease
Date issued
2010-12-31
Language
English
Is part of
International review of research in mental retardation (2010), Vol. 39, p. 165-194
hdl
1887/110846
doi
10.1016/S0074-7750(10)39006-9