Chromosomal 2q37 deletion syndrome, marked by developmental delays, distinctive facial features, and a spectrum of congenital anomalies, presents significant challenges in the cardiac management of affected individuals. This paper details the case of an 8-month-old male with 2q37 deletion syndrome, manifesting atrial and ventricular septal defects, patent ductus arteriosus, and right ventricular outflow tract stenosis, leading to a demanding postoperative course. Despite an initially stable post-surgery phase, the onset of junctional ectopic tachycardia necessitated prolonged veno-arterial extracorporeal membrane oxygenation support, highlighting the syndrome’s potential for intricate postoperative courses. The complexities encountered in this case, including extended renal replacement therapy and delayed thoracic closure, underscore the syndrome’s multisystem impact and the critical need for tailored, multidisciplinary care approaches. This report contributes to the growing body of knowledge on the cardiac implications of 2q37 deletion syndrome, emphasising the importance of individualised surgical strategies and the ongoing exploration of genotype–phenotype correlations in this rare genetic disorder.

Second trimester screening for congenital heart defects occurs during the routine 18–20 weeks’ anomaly scan in many countries. Most congenital heart defects can be prenatally detected by experts in foetal echocardiography working in tertiary centres with high-risk pregnancies. Many studies, however, have shown that detection rates obtained by experts are not reproducible in the low-risk peripheral practices where most of the foetal screening takes place. As the majority of foetuses with congenital heart defects are born to mothers with no identifiable risk factors, it is important that widespread screening of the low-risk population occurs. To facilitate this, standard protocols have been introduced in several countries, but they are not universal and have differing sensitivities depending on the screening views advocated and the area studied. Initially, only performing the four-chamber view (basic scan) was advocated. By adding the outflow tract views (extended scan), three-vessel, and laterality views, the sensitivity of the examination can be significantly increased. Unfortunately, the sensitivity of these extended protocols still does not meet that obtainable in experienced hands, reflecting the additional skill required to obtain these extended views. Thus, close links are required between the tertiary centres and the screening centres to teach and maintain the skills required to obtain and interpret the required views, and to support the sonographer’s commitment. Furthermore, an audit system is required to trace false-positive and -negative cases so that targeted interventions can be planned. This is important, as a missed case of prenatal congenital heart defect is potentially a missed opportunity to reduce postnatal morbidity and mortality.