Down syndrome (DS) is one of the most
common chromosomal abnormalities. The
incidence of DS at birth in developed
countries has remained relatively stable
over the last 20 years, at approximately 1
per 1000 live births. DS is associated with
a number of congenital defects and is also at
increased risk of conditions that may
develop later in life, and thus requires multidisciplinary
care and close surveillance.
Congenital heart disease (CHD) is present
in 35%–50% of patients and is haemodynamically
significant in two-thirds.1 Early
diagnosis and treatment in expert centres
are essential for improving short-term and
long-term outcomes and avoiding important
complications, such as the development
of pulmonary arterial hypertension (PAH).