Genetics

Question 1

Marfan gene

Answer 1

Fibrillin 1 (FBN1)

Question 2

Andersen-Tawil syndrome gene and manifestations

Answer 2

KCNJ2 autosomal dominant

LQT7
hypokalemic periodic paralysis
micrognathia
syndactyly

Question 3

Most common mutation for short QT syndrome (SQT1)

Answer 3

KCNH2

Question 4

Barth syndrome manifestations and gene

Answer 4

TAZ (tafazzin), X-linked

LVNC or DCM
Neutropenia
Short stature

Question 5

Loeys-Dietz involves mutations in this pathway

Answer 5

TGFBR1 + TGFBR2

(TGF-beta receptor)

Question 6

Gene associated with bicuspid aortic valve and early calcification

Answer 6

Notch 1

Question 7

Jervell and Lange-Nielsen Syndrome gene and manifestations

Answer 7

KCNQ1
Congenital deafness, LQTS

Question 8

Timothy Syndrome

Answer 8

LQT8
Mutation: CACNA1C
Autism, syndactyly

Question 9

Cantu syndrome manifestations and gene

Answer 9

ABCC9

Hypertrichosis
Osteochondrodysplasia
Cardiomegaly/LVH
Pericardial effusions

Question 10

Holt Oram gene + manifestations

Answer 10

TBX5 (AD)

Secundum ASD
VSD
Conduction abnormalities
Upper limb anomalies (triphalangeal thumb, radius hypoplasia, etc)

Question 11

Most common gene/protein implicated in DCM

Answer 11

titin (TTN)
(giant sarcomeric scaffolding protein, 10-20% of DCM cases)

Question 12

Fabry pathophys

Answer 12

X-linked GLA mutation -> deficiency of alpha-galactosidase A -> glycosphingolipid deposition (eg globotriaosylceramide) in small vessels

Question 13

Brugada mutation

Answer 13

SCN5A loss of function

Question 14

CPVT most common mutation

Answer 14

RYR2

(VT may look bidirectional)

Question 15

Most common mutation in Noonan syndrome

Answer 15

PTPN11 (AD or sporadic)

(Pulmonic stenosis > HCM)

Question 16

vascular EDS mutation

Answer 16

COL3A1

(TAA, joint hypermobility, translucent skin)

Question 17

Mutation seen with TAA + PDA

Answer 17

MYH11

(myosin heavy chain 11)

Question 18

Most common mutation for familial TAA

Answer 18

ACTA2

(a/w early onset CAD + stroke)

Question 19

2 most common mutations in HCM

Answer 19

MYBPC3
MYH7

Question 20

Danon mutation, inheritance, and manifestations

Answer 20

LAMP2

X-linked dominant

In boys: LVH -> DCM, skeletal myopathy, intellectual disability

Question 21

Pompe disease gene + manifestations

Answer 21

(GSDII)

GAA mutation -> lysosomal enzyme acid-alpha-glucosidase deficiency

Infantile cardiomegaly, hepatomegaly, weakness

Question 22

DiGeorge mutation and manifestations

Answer 22

22q11.2 microdeletion

Conotruncal defects (Tet, Truncus, Arch)
VSD