Immunoglobulin G4-related disease (IgG4-RD) is a systemic fibroinflammatory disease characterised by multiorgan lymphoplasmacytic infiltration, obliterative phlebitis and storiform fibrosis. It can be associated with cardiovascular pathology. The objective of this narrative review is to summarise the published literature on cardiovascular manifestations of IgG4-RD and to provide a basis for diagnosis and management of the condition by the practising cardiologist. We propose the following categorisations of cardiovascular IgG4-RD: aortitis, medium-vessel arteritis, pulmonary vascular disease, phlebitis, valvulopathy, pericarditis, myocardial disease and antineutrophilic cytoplasmic antibody-associated vasculitis. We also review herein developments in radiological diagnosis and reported medical and surgical therapies. Cardiovascular lesions frequently require procedural and/or surgical interventions, such as aortic aneurysm repair and valve replacement. IgG4-RD of the cardiovascular system results in serious complications that can be missed if not evaluated aggressively. These are likely underdiagnosed, as clinical presentations frequently mimic cardiovascular disease due to more common aetiologies (myocardial infarction, abdominal aortic aneurysm and so on). While systemic corticosteroids are the mainstay of IgG4-RD treatment, biological and disease-modifying agents are becoming more widely used. Cardiologists should be aware of cardiovascular IgG4-RD as a differential diagnosis, and understand the roles of corticosteroids, disease-modifying agents and biologicals, as well as their integration with surgical approaches. There are several knowledge gaps, including diagnosis, risk factors, pathogenesis and appropriate management in Ig4-RD of the cardiovascular system. Areas lacking well-conducted randomized trials include safety of steroids in the setting of vascular aneurysms and the role of disease-modifying drugs and biological agents in patients with established cardiovascular complications of this multifaceted enigmatic disease.

Key Clinical Message: We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM 2 . Our patient is compound heterozygous for pathogenic FITM 2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.

Background Patients with adult congenital heart disease (CHD) have various indications for anticoagulation (e.g., presence of Fontan circuit, atrial fibrillation due to surgical scar). Guidelines recommend vitamin K antagonists (VKA) for thromboprophylaxis in adult CHD, as trial data comparing safety/efficacy of direct oral anticoagulants (DOAC) to VKA are not available in this population. Methods PubMed/MEDLINE, Embase, Web of Science, and Google Scholar were searched for trials comparing DOAC with VKA in patients with ACHD. Outcomes of interest were efficacy endpoints (thromboembolic complications) and safety endpoints (bleeding complications). Results were meta-analyzed and sensitivity analyses were performed. Results A total of 4 retrospective studies comprising 6004 patients (2566 DOAC, 3438 VKA) were analyzed. Compared with VKA, DOAC did not cause a statistically significant difference in incidence of thromboembolism (risk ratio, RR, 0.76; 95% confidence intervals, CI, 0.28, 2.07); composite bleeding (RR 1.02, 95% CI 0.71, 1.47); major bleeding (RR 1.05, 95% CI 0.92, 1.21); minor bleeding (RR 1.12, 95% CI 0.51, 2.44); or intracranial bleeding (RR 0.86, 95% CI 0.50, 1.46). Numerically, the DOAC arm had fewer thromboembolisms/intracranial bleeds but more major/composite bleeds. However, upon removal of the largest study, the DOAC arm had fewer major/composite bleeds. Conclusions DOAC did not confer a significant increase in either thromboembolic or bleeding risk as compared with VKA. Sensitivity analysis showed notable heterogeneity among studies. Large-scale trials comparing DOAC with VKA in patients with adult CHD are needed.

Dextroposition is a rare cardiac malformation defined as heart shift to right of midline. ECG findings vary with degree of displacement within the chest cavity. We report the second known case of dextroposition with accessory pathway (posteroseptal in our patient), presenting as pre-excited atrial tachycardia. Abnormal anatomy complicates pathway localization/ablation. (Level of Difficulty: Intermediate.)