Recent Progress in Basic Research on Cardiovascular Diseases Associated with Down Syndrome

Abstract

Among pediatric cardiologists and pediatric cardiac surgeons, Down syndrome is a well-known chromosomal abnormality because of its association with various cardiovascular diseases. Although there still remain several clinical questions regarding the fundamental mechanisms of higher occurrence of congenital heart diseases and pulmonary arterial hypertension in Down syndrome, the underlying molecular mechanisms of this syndrome on heart development and pulmonary vascular pathology are largely unknown. This review article aimed to introduce previous retrospective cohort studies on Down syndrome and the current state of basic research on cardiovascular diseases, including congenital heart diseases and pulmonary arterial hypertension associated with Down syndrome.