Random

Question 1

MYH7

Answer 1

Hypertrophic Cardiomyopathy (HCM)

• • along with MYBPC3, most common HCM genes
• if R403Q mutation, increased risk of sudden death

…. OR

Non-Compaction Cardiomyopathy (NCCM)
– autosomal dominant; causes 15% of NCCM

Question 2

MYBPC3

Answer 2

Hypertrophic Cardiomyopathy (HCM)

along with MYH7, most common HCM genes

Question 3

TTN

Answer 3

Dilated Cardiomyopathy (DCM)

sarcomeric protein

Question 4

TNNT2

Answer 4

Dilated Cardiomyopathy (DCM)

• TNNT2 mutations may be associated with early-onset and aggressive disease, but late onset has also been reported.

Question 5

LMNA

Answer 5

Dilated Cardiomyopathy (DCM) 
    ---> with arrhythmias like atrial fibrillation, risk of sudden cardiac death, often require a pacemaker

(and the very rare Emery-Dreifuss muscular dystrophy)

Question 6

SCN5A

Answer 6

Dilated Cardiomyopathy (DCM)

Question 7

TAZ

Answer 7

Barth syndrome
(3-Methylglutaconic aciduria type II) – congenital cardiomyopathy, underdeveloped skeletal musculature and muscle weakness, short stature, and neutropenia

OR..

Non-Compaction Cardiomyopathy (NCCM)
– autosomal dominant

Question 8

GLA

Answer 8

Fabry

X-linked

left ventricular hypertrophy

Question 9

KCNQ1

Answer 9

Long QT syndrome (Jervell and Lange-Nielson syndrome)

• -> recessive QT syndrome with deafness
• -> J and L-N can be caused also by KCNE1; compound heterozygosity possible

Short QT Syndrome (rare, similar to long QT, distinguishable only on EKG. can be assoc w SIDS)

Question 10

KCNH2

Answer 10

Long QT syndrome

Short QT Syndrome (rare, similar to long QT, distinguishable only on EKG. can be assoc w SIDS)

Question 11

KCNE1

Answer 11

Long QT syndrome (Jervell and Lange-Nielson syndrome)

• -> recessive QT syndrome with deafness
• -> J and L-N can be caused also by KCNQ1; compound heterozygosity possible (in 33%!)

Question 12

Compound heterozygosity in

KCNE1 and KCNQ1

Answer 12

Long QT syndrome (Jervell and Lange-Nielson syndrome)

–> recessive QT syndrome with deafness

Question 13

KCNJ2

Answer 13

Short QT Syndrome (rare, similar to long QT, distinguishable only on EKG. can be assoc w SIDS)

Question 14

SCN5A

Answer 14

Brugada syndrome

Dilated Cardiomyopathy (DCM)

Question 15

BMPR2

Answer 15

Pulmonary Arterial Hypertension (PAH)

75%

Question 16

ACVRL1

Answer 16

Pulmonary Arterial Hypertension (PAH) … AND … Hereditary hemorrhagic telangiectasia (HHT)

HHT:multiple arteriovenous malformations (AVMs)

• If close to the surface of the skin, bleed with slight trauma
• Recurrent nosebleeds
• GI bleeding
• Complications of AVMs in the brain, liver, or lungs

Question 17

PKP2

Answer 17

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

ARVD/C

Question 18

DSG2

Answer 18

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

ARVD/C

Question 19

RYR2

Answer 19

CPVT
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)-

autosomal dominant – causes most cases; recessive form exists

catecholaminergic – happens when you have adrenaline/high emotion
polymorphic – induces changes in pace of…
ventricular tachycardia – fast heart rhythm

Question 20

TTR

Answer 20

Transthyretin (TTR) amyloidosis

high de novo rate (66%)

peripheral and autonomic sensorimotor neuropathy, cardiomyopathy, vitreous opacities, and CNS amyloidosis
…due to accumulation of abnormal protein in the body

Question 21

ELN

Answer 21

Williams Syndrome

Caused by:
contiguous gene deletion of the Williams-Beuren syndrome critical region (WBSCR) that encompasses the elastin gene (ELN), in 99% of patients.

Question 22

CHD7

Answer 22

CHARGE syndrome

Question 23

PRKAG2

Answer 23

HCM (hypertrophic cardiomyopathy) with Wolf-Parkinson-White syndrome

Question 24

LAMP2

Answer 24

HCM caused by Danon Syndrome (X-linked)

Question 25

PSEN1, PSEN2

Answer 25

alzheimer disease (95-100% penetrance; autosomal dominant)

Question 26

APP

Answer 26

alzheimer disease (95-100% penetrance; autosomal dominant) APP= amyloid beta precursor protein