This editorial refers to ‘Against all odds—late repair of multiple shunt lesions in a patient with Down syndrome: a case report’, by A. Arvanitaki et al. doi:10.1093/ehjcr/ytab234.
Patients with Down’s syndrome and shunt lesions have an increased risk (10 times)1,2 for developing pulmonary artery hypertension (PAH). Underlying pathogenesis is often multifactorial (altered pulmonary vascular structure, unfavourable anatomic characteristics of both upper and lower airway, respiratory comorbidity, angiogenic genetic factors related to chromosome 21) leading to the high risk for PAH during infancy.3,4 Typically, early repair of the particular lesion in the first 4–6 months is necessary to prevent patients from severe pulmonary vascular disease with persisting PAH.
The case described by Arvanitaki et al.5 reports a 3-year-old patient with Down syndrome and an unrepaired large perimembranous ventricular septal defect, a large persistent ductus arteriosus, and an atrial septal defect. Interestingly, haemodynamic assessment with acute vasodilator testing suggested operability and after thorough multidisciplinary team discussion, the patient underwent successful surgical repair.5
As pointed out by the authors,5 with the rising immigration from developing countries, more patients with unrepaired or a late diagnosis of congenital heart lesions are presented to our hospitals and clinics. Their treatment is often difficult and in particular large shunt lesions are a therapeutic challenge. The decision for permanent closure of the shunt lesion is often not easy and should be made with caution. A standardized and thorough preoperative and multidisciplinary workup is a key factor6 which is nicely presented by the authors.5
It is remarkable that the presented patient did not show clinical signs of PAH after surgical repair. However, it is known that even those who undergo successful repair of congenital heart disease can develop PAH later in life with poorer outcome than patients with Eisenmenger syndrome.7,8 Latus et al. have even shown a worse response to acute vasodilator testing in PAH patients with operated congenital heart disease compared to patients with idiopathic PAH. They speculated that the significantly impaired pulmonary vasoreactivity in operated congenital heart disease patients might negatively impact on the long-term outcome and suggested that these patients should be treated with a targeted drug therapy similar to patients with idiopathic PAH.9 The authors of the present case report discussed this nicely and recommended a regular long-term follow-up5 which we believe should be lifelong.
As acknowledged by the authors, assessment of the reversibility of PAH plays a major role for the management of patients with congenital heart disease and large shunt lesions.5 The current decision process is largely based on the clinical findings and haemodynamic results from heart catheterization and leaves a grey zone in some patients.5 However, beside data from cardiac catheterization and vasodilator testing, other indices such as biomarkers, genetic variants, and vascular stiffness markers (distensibility, compliance) could be important for the detection of irreversible pulmonary vascular disease.5,10–12 Although they are typically not part of the routine investigations at this stage, they might help improve the decision-making process in future.
In summary, Arvanitaki et al. deserve credit for their report which not only present a rare case but also excellently demonstrates and discusses the decision-making and treatment process in patients with a late presentation of large shunt lesions.
Lead author biography
Inga Voges is a consultant in paediatric and adult congenital heart disease at the University Hospital Schleswig-Holstein in Kiel (Germany) with exerpertise in cardiovascular MR and further special interest in paediatric cardiomyopathies. She is the secretary of the Association for European Paediatric and Congenital Cardiology imaging working group and a member of the pediatric and congenital heart disease executive committee of the SCMR. Dr Voges is highly involved in clinical research in the field of congenital heart disease and Cardiovascular MR imaging.
Conflict of interest: none declared.
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