LQT Syndrome
QT prolongation and T-wave abnormalities on ECG
LQT inheritance
AD
Stress Echo ECG
Absence of normal shortening of QT interval
LQT1 gene
KCNQ1
LQT2 gene
KCNH2
LQT3 gene
SCN5A
Symptom onset LQT
Adolescents to young adult
Symptom onset LQT1
Swimming, exertion
LQT2 symptom onset
Auditory triggers, postpartum
LQT3 symptom onset
Sleep/ rest
Meds to avoid with LQT
Some ADHD drugs
Some antibiotics
Cocaine
LQT1 Treatment
Beta blockers
No competitive sports
No meds on list
LQT2 treatment
Beta blockers Avoid hypokalemia Avoid auditory triggers No competitive sports No meds on list
LQT3 treatment
Mexiletine
AICD
No competitive sports
No meds on list
Jarvell Lange Nielson inheritance and genes
AR, KCNQ1/KCNE2
Jervall Lange Symptoms
Congenital deafness
“Seizures”
Timothy Syndrome features
CHD
Syndactyly of fingers and toes
Long thin face
Neurodev problems
Timothy Syndrome inheritance and gene
AD, CACNA1C
Anderson-Tawil inheritance and gene
AD, KCNJ2
Anderson-Tawil Syndrome features
Periodic paralysis
Low set ears, ocular HTN
Short QT inheritance and genes
AD, KCNH2/KCNQ1/KCNJ2
Symptoms of SQT
Syncope, A-fib, SCD
Brugada syndrome inheritance
AD
Bruaga syndrome: mutations in —– genes
Ion channel
Diagnosis of Brugada syndrome
Procainamide challenge
ECG with Brugada pattern
Treatment for Brugada
ICD
CPVT
Episodic syncope occurring during exercise or acute emotion in individuals without structural cardiac abnormalities
Onset CPVT
7-9 yo
AD form CPVT gene
RYR2
AR form of CPVT gene
CASQ2
Treatment for CPVT
ICD
Genetic Testing Recommended for
LQT CPVT HCM DCM Sudden death
Genetic Testing not recommended for
Brugada
SQT
ARVC
LVNC