SUDDEN DEATH FORMATIVE Flashcards
why would helen be the only one in her family affected by the mutation?
what is the presymptommatic test you would offer to family?
PCR
what is the usual inheritance pattern for cardiac conditions?
multifactorial
eqn for calculating qt length
what are teh two most likely modes of inheritance for this family?
aut dom
multifactorial
what clincial investigations would show if the mutation was pathogenic or not?
look at function
look at effects on family
look at the same gene in mice
aut dom risk to children
50%
phenocopy
an individual showing features characteristic of a genotype other than its own, but produced environmentally rather than genetically
brugada
partial RBB tv1-3
what is brugada?
abnormal conduction disturbance causing range of arrhythmias
inheritance of brugada
aut dom
torsades de pointes
long qt
patient in afib with suspected tia. apart from ct brain what are the most important next steps?
echo
carotid doppler
carotid endarterectomy
