Genetics of Cardiac Disease Nov21 M1 Flashcards
trisomy 21 malformations other than cardiac
anal, duodenal atresia
strabismus
trisomy 21 mental characteristics
intellectual disability, very happy and social
trisomy 21 % withcongenital abnormalities
40%
trisomy 21 3 frequent congenital CVD
atrial and ventricular septal defects
common atrioventricular canal
patent ductus arteriosus
free trisomy 21 def as opposed to other
free = 3 chrom 21 other = translocation
2 causes of trisomy 21
translocation
non disjunction at meiosis 1 or 2
deletion of 22q11: problems other than cardiac
hypoplasia of thyroid (hypoCa) or thymus (immune deficiency).
Malformations like cleft palate, kidney, etc.
% heart malformations in 22q11 deletion
75%
3 frequent congenital heart malform in 22q11 deletions
tetralogy of Fallot
ventricular septal defect
interrupted aortic arch
Tetralogy of Fallot: 4 anomalies
malalignement VSD
Subvalvular or valvular PS
RV hypertrophy
Overriding aorta
important consequence of hypoCa in 22q11 deletion
seizures
22q11 inheritance
autosomal dominant (dominant bc is a deletion in one of a parent’s chrom 22)
other name for 22q11
DiGeorge syndrome
how diagnose DiGeorge
karyotyping + dysmorphic features
cardiomyopathy from mt disorder: problems other than cardiac
hypoglycemia, high lactic acid, floppy baby, hearing loss
cardiomyopathy from mt disorder: cardiac problem
hypetrophy, heart murmur
general principle in mt disorder
expect to have 3 organs affected that aren’t connected
5 steps in mt disorder investigation
- general biochem workup
- eval other organs
- biochem genetic workup (plasma a.a, urine organic acids)
- biopsy (specific to mt eval)
- molecular testing (DNA panels and mtDNA)
medication in cardiomyopathy from mt disorder
carnitine, riboflavin, coenzyme Q10
problems making it important to follow in cardiomyopathy from mt disorder
special management during crisis, surgery, anesthesia. symptomatic treamtent. genetic counselling
mitochondria and mtDNa numbers
5-10 mtDNA per mt
0-2000 mt per cell
mt proteins # and origin
- more 90% from nucleus
mtDNA role
37 genes. tRNA, proteins, rRNA