We show an exceptional case of a right aortic arch (RAA) in a patient with DiGeorge syndrome, breaking the rule that the first epiaortic vessel courses to the contralateral side of the aortic arch. Th Show more
We show an exceptional case of a right aortic arch (RAA) in a patient with DiGeorge syndrome, breaking the rule that the first epiaortic vessel courses to the contralateral side of the aortic arch. This is a RAA with an aberrant left subclavian artery (ALSA) and an isolated left carotid artery (ILCA) arising from the left pulmonary artery (LPA) via a left anterior ductus arteriosus (LADA), along with bilateral ductus arteriosus. This unique case highlights educational pitfalls in using a simple rule to define arch sidedness. Although challenging, echocardiographic diagnosis of such vascular anomalies is feasible in expert hands. The color-flow and Doppler pattern of the epiaortic vessels provide important information about their arrangement and connection to the aortic arch. Bilateral ductus arteriosus is often a marker of complex vascular anomalies, which are frequently associated with genetic syndromes. Show less
Angelo Auricchio, Andrea Demarchi, Tardu Özkartal+15 more · 2023 · Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · Oxford University Press · added 2026-04-24
To investigate the role of genetic testing in patients with idiopathic atrioventricular conduction disease requiring pacemaker (PM) implantation before the age of 50 years. All consecutive PM implanta Show more
To investigate the role of genetic testing in patients with idiopathic atrioventricular conduction disease requiring pacemaker (PM) implantation before the age of 50 years. All consecutive PM implantations in Southern Switzerland between 2010 and 2019 were evaluated. Inclusion criteria were: (i) age at the time of PM implantation: < 50 years; (ii) atrioventricular block (AVB) of unknown aetiology. Study population was investigated by ajmaline challenge and echocardiographic assessment over time. Genetic testing was performed using next-generation sequencing panel, containing 174 genes associated to inherited cardiac diseases, and Sanger sequencing confirmation of suspected variants with clinical implication. Of 2510 patients who underwent PM implantation, 15 (0.6%) were young adults (median age: 44 years, male predominance) presenting with advanced AVB of unknown origin. The average incidence of idiopathic AVB computed over the 2010-2019 time window was 0.7 per 100 000 persons per year (95% CI 0.4-1.2). Most of patients (67%) presented with specific genetic findings (pathogenic variant) or variants of uncertain significance (VUS). A pathogenic variant of PKP2 gene was found in one patient (6.7%) with no overt structural cardiac abnormalities. A VUS of TRPM4, MYBPC3, SCN5A, KCNE1, LMNA, GJA5 genes was found in other nine cases (60%). Of these, three unrelated patients (20%) presented the same heterozygous missense variant c.2531G > A p.(Gly844Asp) in TRPM4 gene. Diagnostic re-assessment over time led to a diagnosis of Brugada syndrome and long-QT syndrome in two patients (13%). No cardiac events occurred during a median follow-up of 72 months. Idiopathic AVB in adults younger than 50 years is a very rare condition with an incidence of 0.7 per 100 000 persons/year. Systematic investigations, including genetic testing and ajmaline challenge, can lead to the achievement of a specific diagnosis in up to 20% of patients. Heterozygous missense variant c.2531G > A p.(Gly844Asp) in TRPM4 gene was found in an additional 20% of unrelated patients, suggesting possible association of the variant with the disease. Show less