Congenital heart conditions

Question 1

Congenital heart condition associated with single gene mutations

Answer 1

Tetralogy of Fallot

Question 2

Congenital heart defect associated with down syndrome

Answer 2

Common AV canal –> large primum ASD, VSD, and common AV valve

Question 3

Congenital heart defects associated with Turner syndrome

Answer 3

Bicuspid aortic valve
Coarctation of the aorta

Question 4

Congenital heart defect associated with Williams syndrome

Answer 4

Supravalvular AS

Question 5

Congenital heart defects associated with DiGeorge syndrome

Answer 5

Congenital abnormalities of the cardiac outflow tract –> tetralogy of Fallot, truncus arteriosus

Question 6

Characteristics of Williams syndrome

Answer 6

Mental retardation
Hypercalcemia
Short stature
Facial abnormalities
HTN

Question 7

Features of DiGeorge syndrome

Answer 7

Cardiac abnormalities
Abnormal facial appearance
Thymic aplasia
Cleft palate
Hypocalcemia

Question 8

Pathogenesis of DiGeorge syndrome

Answer 8

Deletion in chromosome 22 affecting TBX1 transcriptional factor causes abnormal development of 4th pharyngeal arch, and 3rd-4th pharyngeal pouches

Question 9

Congenital heart defects associated with poorly controlled GDM

Answer 9

Transposition of great vessels
VSD

Question 10

Congenital heart defects associated with alcohol intake in pregnancy

Answer 10

PV stenosis
VSD

Question 11

Congenital heart defects associated with maternal rubella infection during gestation

Answer 11

PDA
PV stenosis

Question 12

Congenital heart defect associated with maternal lithium use

Answer 12

Ebstein anomaly

Question 13

Complications of L to R shunts

Answer 13

Volume overload in R heart
Pulmonary HTN
LV hypertrophy
Shunt reversal

Question 14

Types of R to L shunts

Answer 14

Tetralogy of Fallot
Transposition of the great arteries
Tricuspid atresia
Persistent truncus arteriosus
Total anomalous pulmonary venous return

Question 15

Clinical signs of R to L shunt

Answer 15

Hypoxemia
Cyanosis
Hypertrophic osteoarthropathy
Polycythemia

Question 16

Complications of R to L shunt

Answer 16

Secondary polycythemia
Digital clubbing
Increased risk of infective endocarditis before or after corrective surgery
Metastatic abscesses
Cyanosis

Question 17

Most common ASD in down syndrome

Answer 17

Of ostium primum

Question 18

Most common type of ASD

Answer 18

Of septum secundum

Question 19

Clinical findings in adults with ASD

Answer 19

RV heave
Widened, fixed S2
Systolic murmur at upper-left sternal border
Decreased stamina and palpitations due to atrial tachyarrhythmias resulting from RA enlargement

Question 20

Conditions when PFO becomes clinically significant

Answer 20

Pulmonary HTN
RHF

Question 21

Risk factor with PFO

Answer 21

Paradoxical embolism

Question 22

Congenital diseases associated with VSD

Answer 22

Cri du chat syndrome
Fetal alcohol syndrome

Question 23

Early symptoms of HF in infants with large VSD

Answer 23

Tachypnea
Poor feeding
Failure to thrive
Frequent lower respiratory infections

Question 24

Harsh holosystolic murmur best heard at the L sternal border. Mid-diastolic rumbling murmur can be heard at the apex.

Answer 24

VSD

Question 25

Reasons for closure of ductus arteriosus after birth

Answer 25

Increased arterial oxygenation Decreased pulmonary vascular resistance Declining levels of prostaglandin E2

Question 26

Reasons for delayed or absent closure of ductus arteriosus

Answer 26

Hypoxia - respiratory distress or heart disease When associated with other congenital defects

Question 27

Medication used to close PDA

Answer 27

Indomethacin

Question 28

Adult remnant of ductus arteriosus

Answer 28

Ligamentum arteriosum

Question 29

Eisenmenger syndrome

Answer 29

Reversal of a L to R shunt

Question 30

Results from anterosuperior displacement of the infundibular septum

Answer 30

Tetralogy of Fallot

Question 31

Four cardinal features of Tetralogy of Fallot

Answer 31

Pulmonary infundibular stenosis RV hypertrophy Overriding aorta VSD

Question 32

Reason for RV hypertrophy in tetralogy of Fallot

Answer 32

Due to high pressure load placed on RV by pulmonary stenosis

Question 33

Manifestations of Tet spells

Answer 33

Irritability Cyanosis Hyperventilation Occasionally syncope or convulsions

Question 34

Reason for Tet spells

Answer 34

Systemic vasodilation results in an increased R to L shunt in tetralogy of Fallot

Question 35

S2 in tetralogy of Fallot

Answer 35

Single, no split

Question 36

Murmur in tetralogy of Fallot

Answer 36

Systolic ejection murmur heard best at the upper L sternal border

Question 37

CXR findings in tetralogy of Fallot

Answer 37

Prominent RV and decreased size of main pulmonary A segment --> boot shaped heart

Question 38

ECG findings in tetralogy of Fallot

Answer 38

RV hypertrophy with R axis deviation

Question 39

Surgical treatment of transposition of great vessels

Answer 39

Creation of interatrial communication using balloon catheter

Question 40

Common trunk for aorta, pulmonary A, and coronary arteries. Associated with VSD.

Answer 40

Persistent truncus arteriosus

Question 41

Downward displacement of an abnormal tricuspid valve into an underdeveloped RV. Divides RV into atrialized dilated portion and functional reduced portion.

Answer 41

Ebstein anomaly

Question 42

Tubular hypoplasia of the aortic arch proximal to PDA

Answer 42

Infantile form of coarctation of the aorta

Question 43

Discrete ridge-like infolding of the aorta just opposite to the ligamentum arteriosum distal to the arch vessels

Answer 43

Adult form of coarctation of the aorta

Question 44

Compensatory alterations in uncorrected coarctation of the aorta

Answer 44

LV hypertrophy Dilation of collaterals from intercostal arteries

Question 45

When will systolic BP in the R arm is greater than the L arm

Answer 45

Coarctation of aorta proximal to branching of L subclavian A

Question 46

Murmur of aortic coarctation

Answer 46

Midsystolic ejection murmur, may be audible over chest and/or back

Question 47

CXR findings in aortic coarctation

Answer 47

Notching of inferior surface of ribs

Question 48

Possible complications proximal to aortic coarctation

Answer 48

Increased UE SBP Dilation of aortic root and dissection Increased risk for developing berry aneurysms --> increased cerebral blood flow

Question 49

Possible complications distal to aortic coarctation

Answer 49

Decreased in SBP and pulse amplitude in LE Leg claudication HTN --> activation of RAAS Collateral circulation

Question 50

Group of heart defects characterized by involvement of the atrial septum, ventricular septum, and 1 or both of the AV valves

Answer 50

Endocardial cushion defects