34_Genetics Flashcards
DiGeorge Syndrome is indicated by:
Truncus Arteriosus (1 trunk)
Interruption in aortic arch
4 abnormal heart structures-pulm stenosis, right ventricular hypertrophy, overriding aorta, vsd (tetralogy of Fallot)
Aberrant rt. subclavian
Deletion at 22q11.2
Williams Syndrome is indicated by:
Pulmonary artery stenosis
Developmental delay
Hypercalcemia
Deletion at 7q11.23
Monogenic Syndromes Associated with Congenital Heart Disease? Indications?
Elastin- pulmonic stenosis
JAG1- pulm artery stenosis, Jaundice
PTPN11- short stature, pulm valve defect, HCM
TBX5- arm/hand defect, atrial septal defect, conduction abnormal
Gene affected in Holt Oram?
TBX5
Gene affected in Noonan/Leopard?
PTPN11
Gene affected in Alagille?
JAG1
I have 11 pairs of ribs and a large head, not to mention my irregular heart beat?
Neonatal WolfParkinsonWhite Syndrome
Isolated HCM…
Most common genetic cardiac disease
Most common cause of SCD in young ppl
May not detect hypertrophy until puberty(penetrance vary w/ age)
Autosomal Dominant usually
What are 3 most frequent gene mutations in HCM? And the sarcomeric proteins they code for?
MYH7 - beta myosin heavy chain
MYBPC3- myosin-binding protein C
TNNT2- cardiac troponin T
What gene is most frequently mutated in Dilated Cardiomyopathy and is associated with conduction disease?
Lamin A/C
Usually suggests need for AICD
The Q interval can be extended by decreasing Na channel activity and increasing K channel activity (T/F)
False. The reverse is true. Remember that the K influx leads to hyperpolarization
Sleep or rest alone is a trigger for which LQT event?
LQT3 (SCN5A)
Treat with Na channel blockers (mexiletine/flecainide)
Pace to avoid VT from bradycardia
AICD
Sleep or rest with an auditory stimuli is a trigger for which LQT event?
LQT2 (KCNH2)
Avoid hypokalemia and auditory triggers
Emotion, swimming or physical activity is a trigger for which LQT event?
LQT1 (KCNQ1)
Treat with b-blockers, no sports
Brugada Syndrome
RBBB, ST elevation in v1-v3
AutoDom
Mutation in SCN5A
SCD d/t VF
