Cardiovascular disorders among persons with down syndrome

Jeroen C. Vis*, Klaartje van Engelen, Berto J. Bouma, Catia M. Bilardo, Nico A. Blom, Barbara J M Mulder

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)165-194
Number of pages30
JournalInternational Review of Research in Mental Retardation
Issue numberC
Publication statusPublished - 27 Aug 2010

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