General Study Notes

Question 1

Coarctation of the aorta in a female suggests which genetic condiiton?

coarctation = narrowing

Answer 1

Turner syndrome

Question 2

What testing should be ordered for congenital heart disease?

Answer 2

• CMA (eg: 22q11 del)
• multigene congenital heart panel (eg: NKX2-5)
• karyotype (eg: Turner)

Question 3

What is cardiomyopathy?

Answer 3

heart muscle disease
* cardio = heart
* myo = muscle
* pathy = disease

Question 4

Catecholaminergic polymorphic
ventricular tachycardia gene

arrhythmic disorder

Answer 4

RYR2

Question 5

arrhythmogenic right ventricular cardiomyopathy (ARVC) genes

cardiomyopathy

Answer 5

PKP2, DSP, DSC2, TMEM43, DSG2

Question 6

Familial hypercholesterolemia genes

Answer 6

LDLR, APOB, PCSK9

Question 7

What are the no brainers for genetic testing in the cardiac setting?

Answer 7

• early age
• sudden death
• all HCM patients need to be offered genetic testing
  *

Question 8

What genetic testing option is best for cardiomyopathies?

Answer 8

multi-gene panel

indications: early age, sudden death, HCM (100%)

Question 9

What genetic testing should be offered for vascular/aortopathies?

Answer 9

multi-gene panel
make sure to include Marfan, LDS

Question 10

What genetic testing should be offered for dyslipidemia?

Answer 10

multi-gene panel
1. FH panel (4 genes) if profile fits
2. larger dyslipidemia panels (~28-30 genes)

Question 11

What genetic testing should be offered for arrythmias?

Answer 11

multi-gene panel

Question 12

Pulmonic stenosis is associated with

Answer 12

Noonan Syndrome

Question 13

Loeys-Dietz syndrome and aortic dissection

Answer 13

• occurs at smaller aortic diameter than in Marfan
• repair recommended earlier

Question 14

LDS vascular diseae (is/is not) limited to aortic root

Answer 14

LDS vascular diseae (is/is not) limited to aortic root

Question 15

Most common genetic mutation for DCM

Answer 15

TTN

neuromuscular implications

Question 16

HCM genes

Answer 16

• MYH7 (dominant negative)
• MYBPC3 (haploinsufficent)

Question 17

ARVC

Answer 17

• DSC2
• AD
• AR: + keratoderma with wooly hair

Question 18

RCM

Answer 18

no increase in mass

Question 19

CHARGE gene

Answer 19

CHD7

Question 20

CHARGE acronym

Answer 20

• coloboma of the eye
• heart defects
• atreasis choanae (nasal passage blockage)
• R restriction of growth
• G genital anomalies
• E ear anomales HL

Question 21

ARVC

Answer 21

• changes myocytes to fatty fibrous tissues
• lads to arrythmias
• desmosomal genes (PKP2, DS…)

Question 22

Left Ventricular Non-compaction (LVNC)

Answer 22

sponge

Question 23

Peripartum cardiomyopathy gene

Answer 23

BAG3

Question 24

ACTA2 and MYH11

Answer 24

Aortopathies due to smooth muscle cell dysfunction
Deleterious variants in genes involved in muscle function causes familial thoracic aortic aneurysm and dissection (FTAAD)