Genetics Flashcards
1
Q
Genes of long QT syndrome
A
KNCQ1
KCNH2
2
Q
Genes of short QT syndrome
A
KCNQ1
KCNH2
3
Q
Genes of brugada syndrom
A
SCN5A
SCN1b
4
Q
Genes of CPVT
A
RYR2
CASQ2
5
Q
Protein and genes of HCM
A
Sarcomeric proteins:
- Myosin binding protein-C (MYBP-C)
- Beta-myosins heavy chain (B-MHC)
- Troponin T
- Alpha tropomyosin
6
Q
Protein and genes in DCM
A
Cytoskeleton, sarcolemma, nuclear envelope
TTN
LMNA
MYH7
7
Q
Protein and genes in arrhythmogenic CMP
A
Desmosomal proteins:
- Plakoglobin
- Desmoplakin
8
Q
3 syndromes with aortic dissection, with genes
A
Marfan:
FBN1
Loeys-Dietz:
TGFBR1 or 2
Ehlers-Danlos:
COL3A1
9
Q
A