CLASP Flashcards
Introns are
Non-coding DNA
Exons are
Coding DNA
How do you correct QT interval for heart rate
SQR(R-R interval)
Genetics of long QT syndrome
Inheritance
LQTS1
LQTS2
Can be autosomal dominant or recessive
ECG finding on QT prolongation
QT interval >480ms
Mx of QT
Atenolol
Contraindications in long QT syndrome
Erythromycin/clarithromycin
Complication of long QT syndrome
Torsades de pointes
Missense mutation
Mutation results in amino acid change
Nonsense mutation
Mutation results in formation of stop codon
Frameshift mutation
Insertion or deletion of base changes the gene reading frame
Brugada syndrome
Key Triggers
Fever
Alcohol
Large meals
Sleep
Genetics of Brugada syndrome
Who more likely
SCN5A
Autosomal dominant
Seen more in males
Autosomal dominant inheritance of ARVC
Desmosomal genes
ARVC =
Arrhythmic right venticular cardiomyopathy
Genetics of ARVC
PKP2 gene
Formation of stop codon
Can be autosomal dominant or recessive
Autosomal recessive inheritance of ARVC
Non-desmosomal genes
Pathophysiology of ARVC
Fatty replacement of the myocardium
Presentation of ARVC (4)
Palpitations
Breathlessness
Syncope
Sudden death
Avoid in ARVC
Vigorous exercise
Management of ARVC (2)
Sotalol
Catheter ablation
ECG findings in Brugada syndrome
ST elevation
RBBB
Genes affected in HOCM
Sarcomere genes
Ix findings in HOCM (2)
LVH on ECG
Seen on echo
