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........................................................................ 4.3.2 Clinical presentation and natural history Clinical presentation depends on the presence and size of the ASD and VSD and competence of the left-sided AV valve. Symptoms are not specific for an AVSD and are caused by intracardiac shunting (LR, RL, or bidirectional), PH, AV valve regurgitation, ventricular dysfunction, or LVOTO. Exercise intolerance, dyspnoea, arrhythmia, and cyanosis may be present. LVOTO (subvalvular) may be present or develop over time. Complete AV block may develop late.

The history of unoperated complete AVSD is that of Eisenmenger syndrome unless the VSD is only small (see sections 3.4.3 and 3.4.8). Unrepaired primum ASD (partial AVSD) is not uncommon in adults. The presenting clinical symptoms are that of an LR shunt at the atrial level (see section 4.1) and/or that of left-sided AV valve regurgitation (‘cleft’). Patients may still be asymptomatic, but symptoms tend to increase with age; most adults are symptomatic by 40 years of age.

4.3.3 Diagnostic work-up See section 3.3 for general principles. Clinical findings depend on the individual variant (see sections 4.3.1 and 4.3.2). • Echocardiography is the key diagnostic technique. It provides assessment of each anatomic component of the AVSD, of the AV valves and their connections, the severity and exact substrate of AV valve regurgitation, the magnitude and direction of intracardiac shunting, LV and RV function, PAP, and assessment of the presence/absence of LVOTO. • CMR is indicated when additional quantification of ventricular volumes and function, AV valve regurgitation, or intracardiac shunting is required for decision making. • Cardiac catheterization is required in case of non-invasive signs of PAP elevation (calculated systolic PAP >40 mmHg or indirect signs when PAP cannot be estimated) to determine PVR. • Exercise testing should be performed in patients with PAH to exclude desaturation.

4.3.4 Surgical/catheter interventional treatment Catheter closure of AVSDs is not feasible, and intervention is therefore surgical (defect closure, valve repair). In cases of residual interatrial or interventricular communications, endocardial pacing causes an elevated risk of paradoxical emboli; this should be taken into account when pacing is indicated. Epicardial pacing may be required. The expertise of a congenital cardiac surgeon is recommended for all kinds of AVSD defect closures and AV valve repairs.

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Figure 3 Management of ventricular septal defect. AR = aortic regurgitation; IE = infective endocarditis; LV = left ventricle/ventricular; Qp:Qs = pulmonary to systemic flow ratio; PAH = pulmonary artery hypertension; PVR = pulmonary vascular resistance; VSD = ventricular septal defect; WU = Wood units. aLV enlargement with increased stroke volume. bIncludes all patients with desaturation at rest (Eisenmenger physiology) or on exercise. cCareful individual decision in expert centres is required. Downloaded from academic.oup.com/eurheartj/article/42/6/563/5898606 by guest on 07 October 2026