some test - rubyred

[ArchivalUser]

What test we should do if , family history of those disease +
bicuspid aortic valve
cystic fibrosis
HOCM
Renal artery stenosis
Marfan syndrome

[ArchivalUser]

biscuspid aortic valve--turner

CF--CFTR gene

HOCM--sarcomere (myosin globin chain--Autosomal Dominant)

Renal artery stenosis--NOT SURE (FMD in young female patient and atherosclerosis in older male)

Marfan--X linked--MVP; Berry aneursym;

[ArchivalUser]

i wanted to know,
if someone has those disease, what test for other family member?
bicuspid valve--- echo for other family member or not?

[ArchivalUser]

biscuspid aortic valve--turner--doesn't require a test for other family members.

CF--can check for the CFTR gene mutation in siblings and Family or work them up for their allele like Aa.

HOCM--AD--so definitely check other family members via echo

Renal artery stenosis--not sure

Marfan--x-linked--can check other family members via looking for the chromosome X abnormality.

Q's to my knowledge typically look for treating patient and their future kids, but if anything with AD or X linked --you can do a family hx --typically genotyping or echo ie HOCM

[ArchivalUser]

thanks. Marfan is x linked or AD?

[ArchivalUser]

Ahh so sorry!! its AD!!