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