Cardiology

Question 1

What cardiac conditions might present during the first 24 hours of life?

Answer 1

• Valvular regurgitation - most commonly EBSTEIN’S ANOMALY.
• Obstructed TAPVD
• TGA
• Single ventricle pathology eg. HLHS
• Truncus Arteriosus

Question 2

How would Ebsteins Anomaly present?

Answer 2

Cyanosis and Heart failure
Widely split S2
Soft systolic murmur LLSE (mitral regurg)

CXR - massive cardiomegaly

ECG - R atrial hypertrophy - peak p waves (P mitrale)

Question 3

How would obstructed TAPVD present?

Answer 3

Severe tachypnoea, resp distress
Cyanosis

NO MURMUR
Single S2
ECG - RV hypertrophy

Question 4

What cardiac conditions tend to present between 24 hours and 2 weeks?

Answer 4

Duct Dependent Lesions

• Pulmonary Atresia
• Critical Pulmonary Stenosis
• Critical Aortic Stenosis
• Hypoplastic Left Heart Syndrome
• Critical Coarctation

Question 5

What cardiac conditions present between 2-6 weeks?

Answer 5

VSD with Aortic Coarctation
Large VSD +/- PDA
Truncus Arteriosus

Question 6

How would Truncus Arteriosus present?

Answer 6

Cyanosis and congestive heart failure
Ejection systolic murmur at LLSE (mitral regurg)
Single loud S2
Wide pulse pressure with bounding pulses

ECG - biventricular hypertrophy

Associated with DI GEORGE syndrome

Question 7

What are the examination findings of an ASD?

What is the shunt size dependent on?

Answer 7

1. Hyper dynamic precordium
   Widely split S2
   Systolic Flow murmur
2. Size of the defect
   Compliance of the RV

Question 8

What dictates the degree of shunting in a VSD?

Answer 8

Size of the defect

The difference in pulmonary and systemic vascular resistance

Question 9

What is the Bernoulli Equation?

Answer 9

Allows calculation of the systolic pressure difference between 2 areas:

Diff. In P = 4 x distal velocity squared

Question 10

How would you calculate the Ejection Fraction?

Answer 10

EF = EDV- ESV/EDV

Question 11

What is the recurrence rate of congenital heart defects?

Answer 11

4% risk of recurrence if parent or sibling have a CHD
Increased risk with L sided lesions

Associated with other anomalies in 25-40%

Question 12

What are the clinical features of an AVSD?

Answer 12

Partial AVSD most common - MV cleft + primum ASD

• can be asymptomatic
• pansystolic murmur
• Widely split fixed S2
  ECG - superior axis

Complete AVSD = ASD, MV cleft + VSD

• pansystolic murmur
• congestive HF and pulmonary HTN

Question 13

Williams Syndrome?

Answer 13

Microdeletion on chr 17q11
- Elastin mutation

Widely spaced teeth with wide mouth
Overly friendly + cocktail party manner
Hypercalcaemia of infancy
ID, short stature
Renal artery stenosis

Supravalvular Aortic Stenosis
Branch pulmonary artery stenosis

Question 14

DiGeorge Syndrome?

Answer 14

Deletion at chr22q11

Congenital Heart defects
Abnormal facies
Thymus hypoplasia
Cleft palate
Hypoparathyroidism - HYPOCALCAEMIA

Truncus Arteriosus, Interrupted aortic arch

Question 15

Noonans syndrome?

Answer 15

Autosomal dominant
Mutation in RAS/MAP kinase

Ptosis
Hypertelorism
High forehead
Short stature
Neck webbing 

HYPERTROPHIC CARDIOMYOPATHY
Supravalvular pulmonary stenosis

Question 16

Alagille Syndrome?

Answer 16

Autosomal dominant
JAG1 gene mutation

Wide forehead, pointed chin
Conjugated jaundice - biliary duct hypoplasia
Butterfly vertebrae

Branch pulmonary artery stenosis
Tetralogy of Fallot

Question 17

Turners Syndrome?

Answer 17

45X diagnosed by Karyotype

Neck webbing
Short stature
Broad chest, widely spaced nipples
Cubits Valgus
DELAYED PUBERTY

Coarctation of the aorta
Bicuspid valve
Aortic stenosis