Influencia del gen CRELD1 en las cardiopatías congénitas de pacientes con síndrome de Down durante la pandemia por COVID -19.

Influence of the CRELD1 gene on congenital heart disease in patients with Down syndrome during the COVID -19 pandemic.

Abstract

Down syndrome is a pathology that, according to WHO, has a high worlwide and national incidence, frequently associated with congenital heart defects. It affects the human genetic material and it is caused by the nondisjunction of chromosome 21 (XY, + 21 or XX, + 21) or other alterations associated with the same chromosome (mosaicism, translocation). It manifests itself with peculiar characteristics in various areas of the body, among which congenital heart disease stands out, mainly atrioventricular septal defects (AVSD), caused by mutations in the CRELD1 gene. This gene contains 9 exons, encodes cell adhesion molecules and at the same time acts as a regulator of the calcineurin / NFATc1 signaling pathway, thus allowing correct cardiac morphogenesis. On the other hand,  DS  brings  with  it  defects in  the  immune  and  respiratory system,  with  vital importance today, given that deficiencies in their functioning increase vulnerability to Covid-19.