Adult Congenital Heart Disease — Viva

Q1: Define Eisenmenger syndrome. When does the shunt reverse and why must the defect NOT be closed? (2 min)

Eisenmenger syndrome is the physiological end-stage of an uncorrected left-to-right shunt in which chronic pulmonary over-circulation has produced irreversible pulmonary arterial hypertension at or above systemic level, with shunt reversal to right-to-left, central cyanosis, digital clubbing, and secondary erythrocytosis. The shunt reverses when PVR rises to meet and then exceed SVR — typically PVR at systemic level (PVR/SVR ratio near 1.0). The original left-to-right shunt murmur disappears because the pressure gradient is abolished.^[1]

The defect must not be closed because the shunt now serves as a 'pop-off' that decompresses the right ventricle. Closure removes the pop-off, abruptly raises RV afterload, and precipitates fatal right-heart failure. ESC 2020: complete closure is avoided when PVR is 5 Wood units or more; vasoreactivity testing is not recommended to decide ASD closure at that PVR.^[1]

Q2: Outline the bedside findings of secundum ASD and how you would investigate the patient. (3 min)

The bedside triad: wide, fixed split S2, pulmonary flow murmur (ejection systolic, 2nd-3rd left ICS), and an RV precordial heave at the lower left sternal edge.^[1] Additional features: palpable pulmonary artery pulsation in the 2nd left ICS, possible tricuspid diastolic flow murmur with very large shunts, atrial fibrillation in older adults.

Investigations:

• ECG: RSR' in V1 (incomplete RBBB), right-axis deviation, RV volume overload pattern.
• Chest X-ray: cardiomegaly, prominent pulmonary artery segment, plethoric lung fields, normal aortic knuckle.
• Transthoracic echocardiography (the key test): defines ASD type (secundum), size, shunt colour Doppler, estimates Qp:Qs, measures rims for device closure (need adequate aortic, SVC, IVC, posterior rims), and assesses RV size and pulmonary pressure from tricuspid regurgitant jet velocity.
• Cardiac MRI for RV volumes and great-vessel anatomy (especially if sinus venosus ASD or PAPVR suspected).
• Cardiac catheterisation if there is any concern about PVR — measure PA pressure, PVR, Qp:Qs, vasoreactivity before deciding on closure.^[1]

Closure indicated for symptomatic ASD or asymptomatic ASD with RV enlargement and PVR under 5 Wood units. Percutaneous device closure preferred for secundum ASD with stretched diameter 38 mm or less and a sufficient rim of 5 mm except towards the aorta. Surgical closure for primum/sinus venosus/coronary sinus defects, deficient rims, or associated anomalies (cleft mitral, PAPVR).^[1]

Q3: A 35-year-old man with repaired Tetralogy of Fallot is found to have a QRS duration of 195 ms. What is the significance and what is your management plan? (3 min)

A QRS duration of 180 ms or more in repaired TOF was 100% sensitive for documented sustained VT and sudden death in the 1995 Gatzoulis series. ESC 2020 lists QRS duration of 180 ms or more as a possible risk factor for ventricular arrhythmia and SCD. This patient needs:^[16][1]

1. ACHD specialist referral for full assessment.^[1]
2. Echocardiography and cardiac MRI to quantify pulmonary regurgitation and RV volumes. ESC 2020: normalisation of RV size after pulmonary valve replacement becomes unlikely once end-systolic index exceeds 80 mL/m² and end-diastolic index exceeds 160 mL/m² (the cut-off may not correlate with clinical benefit).
3. Holter monitoring for sustained VT.
4. Cardiopulmonary exercise testing for prognostic stratification.
5. Pulmonary valve replacement (PVR) — preferably percutaneous (Melody/Sapien) if RVOT anatomy is suitable, otherwise surgical. Reduces RV volumes and arrhythmic risk.
6. Electrophysiology referral for consideration of VT ablation or ICD implantation in selected patients.

The mechanism of late PR is the transannular patch used at original repair — it enlarges the RVOT but sacrifices pulmonary valve competence, producing chronic volume overload that dilates the RV over decades.^[16][1]

Q4: A 28-year-old woman with Eisenmenger syndrome from a VSD is requesting advice about pregnancy. Counsel her. (2 min)

Pregnancy should definitely be avoided in Eisenmenger syndrome (mWHO IV; ESC 2020 cardiac event rate 40–100%). Contemporary pooled maternal mortality in pulmonary-hypertension pregnancy is 7.6%, with 93% of deaths postpartum; Eisenmenger is associated with higher mortality.^[1][14]

Counselling points:

• The pregnancy should not proceed — offer termination if already pregnant.
• Provide highly effective contraception — levonorgestrel IUD (Mirena) or copper IUD is first-line (highly effective, oestrogen-free, safe in pulmonary hypertension). Progestogen-only pill is acceptable but less effective. Combined oral contraceptives are contraindicated (oestrogen raises thrombosis risk).
• Her bosentan therapy is itself teratogenic — a second reason to prevent pregnancy.
• If she insists on continuing, manage at a level 3 maternal medicine centre with joint ACHD-obstetric care, planned delivery, and targeted PAH therapy optimised.
• Provide written information and a follow-up ACHD contraception appointment.^[1][14]

Q5: A young man presents with upper-limb hypertension, radio-femoral delay, and rib notching on chest X-ray. Discuss the diagnosis and management. (2 min)

Diagnosis: coarctation of the aorta, classically juxta-ductal. The clinical triad — upper-body hypertension, radio-femoral delay, and rib notching (undersides of ribs 4–8 from dilated intercostal collaterals) — with the figure-of-3 sign on CXR (pre-stenotic dilatation of the left subclavian, coarctation notch, post-stenotic dilatation of the descending aorta) is diagnostic. Measure four-limb blood pressure (arm-leg systolic gradient over 20 mmHg is significant) and palpate all pulses. Screen for Turner syndrome in females, and screen for bicuspid aortic valve in all patients (and vice versa).^[1]

Management:

• CT or MR angiography to define anatomy (site, length, gradient, collaterals).^[1]
• Intervention indicated if catheter peak-to-peak gradient is 20 mmHg or more, or systolic arm-to-leg gradient is 20 mmHg or more, with anatomical coarctation, aneurysm, or re-coarctation.
• Stenting (covered stent preferred) is first-line for native or recurrent adult coarctation with suitable anatomy. Surgical repair for long-segment coarctation, aneurysm not amenable to stent, or co-existing arch disease.
• Lifelong surveillance for re-coarctation, aneurysm at repair site, persistent hypertension (beta-blocker first-line), and persistent hypertension, aneurysm and re-coarctation.^[1]

References4ShowHide

1. [1]Baumgartner H, De Backer J, Babu-Narayan SV, et al. 2020 ESC Guidelines for the management of adult congenital heart disease Eur Heart J, 2021.PMID 32860028
2. [6]Galiè N, Beghetti M, Gatzoulis MA, et al. Bosentan therapy in patients with Eisenmenger syndrome Circulation, 2006.PMID 16801459
3. [14]El Iskandarani M, Golamari R, Bettinotti BGM, et al. Pregnancy in patients with pulmonary hypertension J Thorac Dis, 2025.PMID 40809209
4. [16]Gatzoulis MA, Till JA, Somerville J, Redington AN Mechanoelectrical interaction in tetralogy of Fallot Circulation, 1995.PMID 7600655