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.................................................................................................................................................................... 4.10.6 Follow-up recommendations All patients with TOF should have periodic cardiac follow-up in a specialized ACHD centre, which  in most patients  should be done annually. Follow-up evaluation needs to look for the complications listed in section 4.10.2. All patients should have CMR at regular intervals, dependent on the pathology found.

4.10.7 Additional considerations

• Exercise/sports: there are no restrictions in asymptomatic repaired patients with good haemodynamics. Patients at high risk for clinical arrhythmia/SCD, patients with advanced biventricular dysfunction, and patients with marked ascending aortopathy should be limited to low-intensity activity/sports and avoid isometric exercise. • Pregnancy: in unrepaired patients constitutes a considerable risk of maternal and foetal complications and death. The risk of pregnancy in repaired patients depends on their haemodynamic status (low in patients with good haemodynamics). In patients with significant residual lesions, there is a risk of arrhythmia and right heart failure. Pregnancy is unlikely to have an adverse long-term effect on cardiovascular function262 (see section 3.5.7). • IE prophylaxis: recommended only for high-risk patients (see section 3.4.6).

4.11 Pulmonary atresia with ventricular

septal defect 4.11.1 Introduction and background Adult patients with pulmonary atresia with VSD are a heterogeneous population in terms of underlying anatomy, physiology, and previous interventions. Pulmonary atresia þ VSD patients share the intracardiac anatomy of TOF but lack a direct communication between the RV and PAs. Microdeletion 22q11.2 is common (facial anomalies, nasal speech, and developmental delay).263 PA supply varies in pulmonary atresia þ VSD, and determines both clinical presentation and management (the complexity of the pulmonary vascular bed may make repair unattractive or impossible). Patients with discordant cardiac connections and/or a single ventricle physiology and their management will be discussed in the appropriate sections.

There are three patterns of PAs: • Unifocal with confluent, good-sized PAs supplied by a PDA. • Multifocal, with confluent but hypoplastic PAs (‘seagull’ appearance) supplied by multiple MAPCAs. • Multifocal with non-confluent or absent PAs supplied by MAPCAs. Surgical management is a heavily debated topic due to the lack of consensus on the optimal treatment. Patients with confluent, good-sized PAs and a pulmonary trunk (usually with valvular atresia) are suitable for a Fallot-like repair using a transannular patch. Patients with good-sized PAs but without a pulmonary trunk should undergo repair with a RVPA conduit. Patients with confluent but hypoplastic PAs often require an arterial shunt or reconstruction of the RVOT (without VSD closure), which may enhance PA growth, and then be reviewed at a later stage for repair using a valved conduit. Patients with non-confluent PAs with adequate, but not excessive, pulmonary blood flow in infancy can survive into adulthood without surgery. There are proponents of a staged unifocalization approach for this latter challenging group of infants, ultimately aiming for a conduit repair.264

4.11.2 Clinical presentation and natural history At adult age, clinical presentation for repaired patients is similar to those with TOF (see sections 4.10 and 4.14). Unrepaired patients present with exertional dyspnoea, fatigue, and progressive chronic cyanosis, due to decreased pulmonary blood flow from collateral stenosis, PA stenosis, increased PVR, or increasing ventricular end diastolic pressures.265 Cyanosis will eventually lead to multiorgan involvement (see section 3.4.8). A number of complications may occur in unrepaired patients: • Haemoptysis may be due to rupture of usually small collateral vessels and/or small PA thrombosis. • Chronic heart failure is usually multifactorial and may be due to chronic cyanosis, early excessive pulmonary blood flow, increased PVR, RV dysfunction, AR, and other causes. • Progressive dilation of the ascending aorta with increasing AR (rarely aortic dissection). • Endocarditis can be particularly compromising in patients with limited cardiovascular reserve and those with significant cyanosis. • Arrhythmia and SCD are not uncommon. • Segmental PAH.46

4.11.3 Diagnostic work-up See section 3.3 for general principles. • Clinical findings: cyanosis in unrepaired patients may be profound, even with minimal physical effort. Continuous murmurs at the back suggest MAPCAs. ECG findings include right-axis deviation and RVH. Chest X-ray may show a boot-shaped cardiac contour (‘empty PA bay’) with abnormal, decreased pulmonary vascularity (alternating with some areas of increased vascularity through large MAPCAs). • Echocardiography: findings in repaired patients depend on the type of repair (see sections 4.10 and 4.14). For unrepaired patients, absence of direct flow from the RV to PA, with continuous flow on multiple sites on colour Doppler from the MAPCAs, may be seen. 3D echocardiography can further aid in delineating anatomic pathology and biventricular size and function. TOE is useful in certain patients to evaluate valve anatomy when transthoracic imaging is challenging or when IE is suspected.266 • CMR, CCT, and cardiac catheterization are required to determine sources of pulmonary blood supply and size of PAs, to assess MAPCAs, and obtain haemodynamics. In repaired patients, CMR is used for requirements similar to patients with TOF [for RV volumes and function, PR, size, shape, and expansion of the PAs, and the size of the ascending aorta, and for residual shunt (Qp:Qs)]. 3D rotational angiography and 3D overlay imaging, as Downloaded from academic.oup.com/eurheartj/article/42/6/563/5898606 by guest on 07 October 2026