Congenital Heart Disease

Question 1

In the Foetal heart when does the Foramen ovale and Ductus Arteriosus demise?

Answer 1

Foramen Ovale: 6 months. (Closes through mechanism of breathing, lung volume expansion, thoracic pressure dropping, blood rushing into LA, LA pressure>RA, snap shut)

Ductus Arteriosus: 2 days - but can be as soon as hours.
(Closes due to increased O2 tension and low PGE [prostaglandins])

Question 2

What are the 5Ts of Cyanotic Heart Defects?

Answer 2

Truncus arteriosus - 1 arterial vessel overriding ventricles
Transposition of great vessels = 2 arteries switched
Tricuspid atresia (3)
Tetralogy of Fallot (4)
Total anomalous pulmonary venous return = 5 words

(Out of the five Ts, only Transposition presents with severe cyanosis within the first few hours of life

Question 3

Name three intrauterine risk factors for congenital heart disease

Answer 3

Maternal drug use - ETOH, Li, Thalidomide, phenytoin
Maternal infection - rubella
Maternal illness - DM, phenylketonuria (PKU)

Question 4

What is the main difference between acyanotic conditions (pink babies) and cyanotic conditions (blue babies)

Answer 4

Left to right shunts for acyanotic babies - oxygenated blood from lungs shunted back into pulmonary circulation.
Right to left shunts for cyanotic babies - deoxygenated blood is shunted into systemic circulation

Question 6

Name 3 acyanotic heart defects

Answer 6

ASD
VSD
PDA

Question 7

When does Transposition of the great arteries (TGA) present ?

Answer 7

Hours

Classic: Baby boy at W35 gestation, AGAR of 6/8. Within hours the neonate has become deeply cyanosis with SOB.
Loud S2 but no murmur
Hyperoxia test has PaO2<70%
CXR shows egg on string appearance of cardiac shadow

Question 8

When does Tetralogy of Fallot (TOF) present?

Answer 8

Months

Classic presentation: 2yo child develops intermittent cyanosis worsened by crying and feeding. Spells last 10 mins. Otherwise healthy. CXR has boot shaped heart. Harsh ejection systolic murmur at ULSE

Tet spells are acute hypoxemic attacks that exhibit bluish skin during episodes of crying or feeding. Emergency treatment of squatting or legs up to chest

Question 9

When does a large VSD present ?

Answer 9

6 weeks

Question 10

When does a Patent Ductus Arteriosus present? How would this present, and name 3 clinical findings.

Answer 10

8 Days

Presents: SOB tachypnoea and failure to thrive.
Findings:
Machinery/ continuous murmur at ULSE (turbulent flow at aorta)
Wide pulse pressure (like AR)
Collapsing bounding pulses ( like AR)

Question 11

When does infantile Aortic Coarctation present?

Answer 11

2 days

Question 12

What is the main risk factor of AVSD? Name two findings

Answer 12

Down Syndrome

Pansystolic murmur at LLSE - VSD (also peripheral oedema + loud p2)
Midsystolic murmur at ULSE - ASD ( widely split fixed S2, RV parasternal heave)

Question 13

What is Ebstein’s Anomaly and what is the classic risk factor for this Syndrome?

Answer 13

Tricuspid valve displaced closer to RV apex leading to ‘atrialisation’ of the RV. CXR shows extreme cardiomegaly.

Mother with bipolar affective disorder on lithium

Question 14

What is the main risk factor for Patent ductus arteriosus?

Answer 14

Prematurity e.g. W28 gestation

Question 15

What conditions can cause Eisenmenger’s syndrome?

Answer 15

VSD and PDA

Shunt reversal

Question 16

Name the components of TOF

Answer 16

Pulmonary stenosis
Right Ventricular hypertrophy
Overriding aorta
Ventricular septal defect

Question 17

No murmur but a single loud S2. What condition?

Answer 17

TGA

Question 18

Soft mid systolic murmur ULSE with widely split fixed S2

Answer 18

ASD

Question 19

Systolic ejection murmur ULSE with intermittent cyanotic spells

Answer 19

Tetralogy of Fallot

Question 20

Pansystolic murmur across entire praecordium

Answer 20

VSD

Question 21

Fever, truncal rash and cervical lymphadenopathy. What does the acronym Warm CREAM stand for?

Answer 21

Kawasaki Disease is an acute medium vessel vasculitis. Peak incidence 1-2 years, more more common in Asian kids. Leading cause of acquire heart disease in children.

Fever > 5 days (warm) + 4/5 of
Conjunctivitis
Rash - polymorphous truncal rash
Errhythematous rash palms/soles
Adenopathy (unilateral painful cervical lymphadenopathy)
Mucous membrane erythema (strawberry tongue)

Must use TOE at dx and at 6 weeks to screen for coronary dilatation/aneurysms.

Question 22

1 day old neonate has profound cyanosis and shock with weak pulses and cold peripheries

Answer 22

Hypoplastic left hear syndrome (HLHS)

Treat with PGE infusion

Question 23

Machinery murmur at ULSE with collapsing pulse

Answer 23

Patent ductus arteriosus

Question 24

15 yo girl with Turner’s Syndrome is noted by her GP to have high BP, particularly in her R arm.
CXR: rib notching
Systolic ejection murmur at ULSE

Answer 24

Aortic coarctation - post ductal leading to rib notching from collateral artery enlargement

Question 25

2 day old infant develops shock and cyanosis. He has diminished lower extremity pulses and radio femoral delay

Answer 25

Aortic Coarctation - pre ductal coarctation and thus duct dependent, presents in first few days when DA closes