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Congenital heart disease flashcards

12 high-yield MRCP Part 1 cards from the Intellect Medicos Cardiology course. Try to answer each question before you open it — then study them properly with spaced repetition, which brings each card back just before you would forget it.

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1. Which maternal drug exposure in pregnancy is classically associated with Ebstein's anomaly?

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   Lithium.

   Why? In Ebstein's anomaly the tricuspid leaflets are displaced towards the apex, 'atrialising' part of the right ventricle and causing tricuspid regurgitation. First-trimester lithium exposure increases the risk, though the absolute risk is small.

2. Which heart sound finding is classic for an atrial septal defect?

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   Wide, fixed splitting of S2.

   Why? The left-to-right shunt keeps the right ventricle volume-loaded in both inspiration and expiration, so P2 is delayed by the same amount throughout the respiratory cycle.

3. Name the four features of tetralogy of Fallot.

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   Ventricular septal defect, overriding aorta, right ventricular outflow tract obstruction (pulmonary stenosis) and right ventricular hypertrophy.

   Why? Outflow obstruction forces deoxygenated blood from the right ventricle through the VSD into the aorta (right-to-left shunt), causing cyanosis. The chest X-ray shows a "boot-shaped" heart.

4. "Egg on a string" on a neonatal chest X-ray suggests which congenital lesion?

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   Transposition of the great arteries.

   Why? The aorta arises from the right ventricle and the pulmonary artery from the left, producing parallel circulations. The great vessels lie one in front of the other, giving a narrow mediastinum.

5. A 19-year-old woman with short stature and a webbed neck has hypertension in her arms, weak delayed femoral pulses and notching of the inferior ribs on chest X-ray. What is the diagnosis?

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   Coarctation of the aorta (associated with Turner syndrome).

   Why? The narrowed aorta causes high pressure proximally and low pressure distally (radio-femoral delay). Enlarged intercostal collateral arteries erode the inferior rib margins.

6. Which drug keeps the ductus arteriosus open in duct-dependent congenital heart disease, and which drugs close it in preterm infants?

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   Prostaglandin E1 (alprostadil) keeps it open. Indometacin, ibuprofen or paracetamol close it.

   Why? Prostaglandins keep ductal smooth muscle relaxed. Prostaglandin synthesis inhibitors remove that signal, so the duct constricts.

7. At cardiac catheterisation, an oxygen saturation step-up from 70% to 85% first appears in the right atrium. What lesion is likely?

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   Atrial septal defect.

   Why? Oxygenated left atrial blood shunts into the right atrium, so saturation rises from the RA onwards. A step-up first in the RV suggests VSD; first in the pulmonary artery suggests PDA.

8. A small, loud VSD with no haemodynamic effect has an eponymous name. What is it?

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   Maladie de Roger.

   Why? A small defect causes a high-velocity jet and a loud pansystolic murmur. Murmur loudness does not reflect size; large VSDs can have soft murmurs as pulmonary pressure rises.

9. Which cyanotic congenital heart disease commonly presents at birth, and which is the commonest cyanotic lesion overall (often presenting later)?

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   At birth: transposition of the great arteries. Overall: tetralogy of Fallot.

   Why? TGA creates parallel circulations, so cyanosis is severe from the first hours. In Fallot the degree of cyanosis depends on how severe the right ventricular outflow obstruction is.

10. What is the initial and the definitive management of transposition of the great arteries?

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    Initially, prostaglandin E1 to keep the duct open (± balloon atrial septostomy). Definitive: the arterial switch operation.

    Why? With parallel circulations, the baby only survives if blood mixes through the duct or an atrial opening until surgery.

11. What is the commonest cardiac defect in Down syndrome?

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    Atrioventricular septal defect (endocardial cushion defect).

    Why? It combines an ostium primum ASD, an inlet VSD and a common AV valve. An ostium primum ASD gives left axis deviation on the ECG.

12. 22q11.2 deletion (DiGeorge syndrome) is associated with which type of congenital heart lesions?

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    Conotruncal defects: tetralogy of Fallot, truncus arteriosus and interrupted aortic arch.

    Why? The deletion disrupts neural crest migration into the outflow tract and the third/fourth pharyngeal pouches (also causing thymic aplasia and hypocalcaemia).