Genetics and Cardiovascular Disease Flashcards
what are the cuases of congenital heart disease?
copy number variation
single nucleotide variation
CNV or SNV
multifactorial
teratogens
what is trisomy 21?
down syndrome?
what are the symptoms of turner syndrome?
coarctation of aorta
short stature
gonadal dysgenesis
puffy hands
symptoms of noonan syndrome
Pulmonary stenosis Short stature neck webbing cryptorchidism characteristic face Autosomal Dominant PTPN11 mutation
symptoms of cardio-facio-cutaneous
Noonan-like
Plus:
Ectodermal problems
Develomental delay
symptoms of Leopard syndrome
Noonan-like
Plus:
Multiple lentigenes
Deafness
symptoms of Costello syndrome
Noonan-like Plus thickened skin folds susceptible to warts cardiomyopathy Later cancer risk
what is the symptoms of 22q11 deletion syndrome?
CATCH22
Cardiac malnformation Abnormal facies Thymic hypoplasia Cleft palate Hypoparathyroidism 22 q11 deletion
what is williams syndrome?
Aortic stenosis (supravalvar) Hypercalcemia 5th finger clinodactyly characteristic face cocktail party manner Deletion of Elastin on chromosome 7 Deletion of contiguous genes LIM kinase
what is marfan syndrome?
Autosomal dominant Multisystem Connective tissue Fibrillin 1 gene chromosome 15q21
Tall stature/pectus
carinatum/arachnodactyly
Lens subluxation
Mild aortic root dilatation
what is the management of marfan?
echocardiogram
β blockers
Angiotensin II Receptor
Blockers
Prophyllactic aortic surgery if
Sinus of Valsalva exceeds
5.5 cm or 5% growth per year
(2 mm in adults)
Monitor aortic root frequently
in pregnancy if diameter
exceeds 4cm
