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18 Cards in this Set

  • Front
  • Back
Genetics of isolated CHD
multifactorial/polygenetic
closer relatives at greater risk
Is heart sensitive to genetic imbalance?
yes, CHD 2nd most common condition w/chromosome abnormality after MR
atrioventricular septal defect
think Down Syndrome
suprvalvular aortic stenosis
Williams syndrom
interupted aortic arch
22q11 deletion
pulmonic stenossi
Noonan Syndrome
Coarctation of the Aorta
Turner Syndrome 45 X
Velocardial facial syndrom
DiGeorge
22q11
conotruncal heart lesions
most common genetic cause of psychiatric illness, OCD, nasal speech
William Syndrome
supravalvular aortic stenosis
stellate irides jowly cheeks
HTN due to reanl artery stenosis
cocktail party personality
elastin isnt responsible
Marfan
dilated aortic root
what mutation can cause both DCM and HCM
B-myosin heavy chain mutation
Non compaction ventricular myocadium
associated with Barth syndrome
what has greater value: genetic test for CM or arrhythmias
arrhythmias, dramatically
Phenotype for LQTS:
risk for sudden unexplained cardiac death with clear physiological triggers (swimming, MVA,
99% familial
Treatmetn for LQTS
B blockers
good prognosis
Brugada Syndrom
RBBB and ST elevation
greater risk of V fib than LQTS
AD two genes associated
Anderson Tawil Syndrome
postasium sensitive periodic paralysis
frequent V arrythmias
Timothey Syndrome
Arrythmia due to mutaiton of gene encoding L type Ca channels treat with Ca chan blocker
Phenotype: hypoglycemia sundactyly, etc. abnormalities