What people with Down Syndrome can teach us about cardiopulmonary disease

Abstract

Down syndrome is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, Down syndrome is associated with cognitive impairment, congenital malformations ( particularly cardiovascular) and dysmorphic features. Immune disturbances in Down syndrome account for an enormous disease burden ranging from quality-of-life issues (autoimmune alopecia) to more serious health issues (autoimmune thyroiditis) and life-threatening issues (leukaemia, respiratory tract infections and pulmonary hypertension). Cardiovascular and pulmonary diseases account for ∼75% of the mortality seen in persons with Down syndrome. This review summarises the cardiovascular, respiratory and immune challenges faced by individuals with Down syndrome, and the genetic underpinnings of their pathobiology. We strongly advocate increased comparative studies of cardiopulmonary disease in persons with and without Down syndrome, as we believe these will lead to new strategies to prevent and treat diseases affecting millions of people worldwide.

Physical therapy in Down syndrome: systematic review and meta‐analysis

“…Down syndrome (DS) is the most common chromosomal abnormality (Megarbane et al 2009;Asim et al 2015;Colvin & Yeager 2017;Kazemi et al 2016). The estimated global incidence of this chromosomopathy is around 0.1% in live births (Mao et al 2003).…”

Niña con síndrome de Down e hipertensión pulmonar

“…La mayor susceptibilidad a la hipertensión arterial pulmonar es reconocida en el niño con síndrome de Down, sobre todo en residentes a altitudes relativamente altas como el altiplano mexicano, y que se presentan sin asociación necesaria con malformación cardiaca. 8 La inmadurez alveolar, con pocos alvéolos y distendidos, en un paciente con reflujo gastroesofágico propicia problemas de aspiración; en la paciente encontramos material aspirado en bronquiolos y alvéolos. Probablemente, el bronquio traqueal derecho haya contribuido a problemas de aspiración aunque en la autopsia estos se encontraron en ambos pulmones.…”

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

“…Down syndrome (DS) is the most common chromosomal abnormality among live‐born infants, with an incidence rate of 1 in 700–800 (Colvin & Yeager, 2017; Weijerman et al, 2008). As originally described by Garrod in 1894, DS is frequently associated with congenital heart defects (CHDs) (44–58%; Colvin & Yeager, 2017; Garrod, 1894; Roizen & Patterson, 2003; Weijerman et al, 2008), with a relatively fixed pattern of presentation (most commonly septal defects and less commonly transposition of the great arteries, univentricular physiology, or aortic coarctation [AoCo]) (Vis et al, 2009).…”

“…Down syndrome (DS) is the most common chromosomal abnormality among live‐born infants, with an incidence rate of 1 in 700–800 (Colvin & Yeager, 2017; Weijerman et al, 2008). As originally described by Garrod in 1894, DS is frequently associated with congenital heart defects (CHDs) (44–58%; Colvin & Yeager, 2017; Garrod, 1894; Roizen & Patterson, 2003; Weijerman et al, 2008), with a relatively fixed pattern of presentation (most commonly septal defects and less commonly transposition of the great arteries, univentricular physiology, or aortic coarctation [AoCo]) (Vis et al, 2009). According to previous studies, the most common CHDs in DS include atrioventricular septal defects (AVSDs, 17–43%), ventricular septal defects (VSDs, 11–33%), atrial septal defects (ASDs, 7–11%), and patent ductus arteriosus (PDA, 2–6%), followed by tetralogy of Fallot (ToF, 2–6%; Dennis, Archer, Ellis, & Marder, 2010; Kallen, Mastroiacovo, & Robert, 1996; Park et al, 1977).…”