Congenital Heart Disease and Genetic Heart Disease Flashcards
what are the causes for congenital heart disease?
> chromosomal > micro-deletions > single gene > teratogens > multifactorial
name some chromosomal causes of heart disease
trisomies
monosomies
name some micro-deletions that cause congenital heart disease
22q11 deletion
Williams
what are the genetic mutations that cause downs syndrome?
trisomy 21:
> maternal non-disjunction
> translocation
> mosaic
what congenital defect is associated with downs syndrome?
atrio-ventricular defects
what is the genetic abnormality in turners syndrome?
45,X
what are the effects of turners syndrome?
> coarctation of the aorta
short stature
gonadal dysgenesis
puffy hands
what is neck webbing?
excess nuchal folds, a congenital skin fold that runs down the side of the neck to the shoulders.
what syndromes can cause neck webbing?
> turner syndrome > noonan syndrome > CFC syndrome > leopard syndrome > Costello syndrome
what does noonan syndrome cause?
> pulmonary stenosis > short stature > neck webbing > cryptorchidism > characteristic face
describe cardio-facio-cutaneous syndrome
it is noonan like with ectodermal problems and developmental delay
describe leopard syndrome?
it is noonan like with multiple lentigenes and deafness
describe Costello syndrome
it is noonan like with thickened skin folds, susceptibility to warts, cardiomyopathy and a later cancer risk.
what is the MAPK pathway?
mitrogen activated protein kinase pathway
what is the acronym for 22q11 deletion syndrome?
CATCH22: Cardiac malformation Abnormal facies Thymic hypoplasia Cleft palate Hypoparathyroidism 22q11 deletion (plus renal and psychiatric)
name two syndromes that are encompassed by 22q11 deletion syndrome
DiGeorge syndrome and shprintzen syndrome
what psychiatric problems are associated with 22q11 deletion syndrome?
> schizophrenic patients
depression
bipolar effective
what causes Williams syndrome?
> deletion of elastin on chromosome 7
deletion of contagious genes
LIM kinase
what does Williams syndrome cause?
> aortic stenosis (supravalvar) > hypercalcemia > 5th finger clinodactyly > characteristic face > cocktail party manner
give some examples of teratogens
> alcohol
antiepileptic drugs
rubella
maternal diabetes mellitus
what are the effects of foetal anticonvulsant syndromes?
> characteristic faces
malformation patterns
developmental delay
name three foetal anticonvulsant syndromes
> valproate
phenytoin
carbamazepine
is marfan syndrome autosomal dominant or recessive?
autosomal dominant
what does marfan syndrome affect?
it is a multisystem syndrome and connective tissue
