... disease. Transcatheter procedures may be an option, and a multidisciplinary approach to planning and hybrid management strategies can optimize outcomes in similar patients. Case report Aortic valve Genetic disorders Inherited metabolic disorders Valve replacement Abstract Background Morquio...

... on our site—for further information please contact [email protected]. Abstract Aims Little is known about the distribution and clinical course of patients with inherited arrhythmia syndrome (IAS) and concomitant atrial arrhythmias (AAs). The aim of the study is (i) to characterize...

... to develop therapies to modulate or correct their molecular substrates. In this review we examine the latest advancements in cardiac gene therapy, discussing the pros and cons of different molecular approaches and delivery vectors, with a focus on their therapeutic application in cardiac inherited diseases...

...Ivan Zeljkovic; Anaïs Gauthey; Martin Manninger; Katarzyna Malaczynska-Rajpold; Jacob Tfelt-Hansen; Lia Crotti; Elijah R Behr; Federico Migliore; Arthur Wilde; Julian Chun; Giulio Conte Graphical Abstract Graphical Abstract Sudden cardiac death Inherited arrhythmogenic diseases Inherited...

... is caused by inherited heart disease, especially among the young. An autopsy is crucial to establish a diagnosis of inherited heart disease, allowing for subsequent identification of family members who require cardiac evaluation. Autopsy of cases of unexplained sudden death in the young is recommended...

... as the pathologic or likely pathologic inherited variant, and between FHR and β-blocker exposure. Taking the results of these factors into account, we developed a FHR/GA model for the in utero prediction of LQTS in the context of a maternal/paternal pathogenic or likely pathogenic LQTS− variant. Because...

... death Genetic testing Inherited cardiomyopathies Filamin-C Case series Learning points Arrhythmogenic cardiomyopathy (ACM) is a myocardial disorder that is not due to ischaemic, valvular heart, or hypertensive disease and has a predisposition to arrhythmias and sudden cardiac death. Left...

... of seizures, epilepsy, or paralysis. Sequencing of mtDNA revealed an m.3243A>G mutation in the gene encoding mitochondrial transfer RNA leucine-1. She was diagnosed with maternally inherited diabetes and deafness (MIDD) with MCM and received oral high-dose taurine supplementation. However, she...

... 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...

.... Hypertrophic cardiomyopathy is a heart muscle disease that is often caused by disease-causing variants in sarcomere protein genes (‘sarcomeric HCM’) and more rarely by ‘non-sarcomeric’ causes such as RASopathy syndromes, neuromuscular diseases, inherited errors of metabolism, lysosomal storage diseases...

... system pacing is viable alternative to conventional cardiac resynchronization therapy using coronary sinus tributaries. Case report Physiological pacing LMNA cardiomyopathy Left ventricular systolic dysfunction Inherited cardiovascular condition Dilated cardiomyopathy Learning points Patients...

... cardiomyopathy (ACM) has been reported as the main cause of death in the North East of Italy. ²⁶ Studies in the UK and Australia indicate that SADS, characterized by a negative or normal post-mortem, is more common than previously thought, suggesting that inherited arrhythmia syndromes such as long...

... Inherited arrhythmias Case report For the podcast associated with this article, please visit https://dbpia.nl.go.kr/ehjcr/pages/podcast 10.1093/ehjcr/ytac018audio1.mp3 EHJ-CR podcast ytac018 6294343499001 Learning points Unexplained syncope is a common phenomenon in clinical practice...

... the utility of genetic testing using modern gene panels in patients with comparable phenotypes. We also demonstrate that optimal medical therapy with antiarrhythmic drugs, exercise restriction, ICD insertion, and catheter ablation can be useful in the management of ALVC with positive outcomes Inherited...

.../standard_publication_model ) Abstract Risk stratification of patients with inherited arrhythmia syndromes (IASs) can be challenging. Recent guidelines acknowledge a place for considering the implantable loop recorder (ILR) to outrule malignant arrhythmia as a cause of syncope in certain inherited arrhythmia patients who...

... in patients with evidence of conduction disorders and systemic infection. Gerbode defect Infective endocarditis Complete heart block Epidural abscess Inherited cardiac conditions Case report Learning points Have high index of suspicion for endocarditis in patients with evidence of conduction disorders...

... genetic testing requested in SADS cases 10/56 (18%)   13/56 (23%)   8/56 (14%)   25/56 (45%) Never   1–25%   25–49%   ≥50% 4/12 (33%)   6/12 (50%)   1/12 (8%)   1/12 (8%) NS   NS   NS   0.02 ICC, inherited cardiac condition; SUDY, Sudden Unexplained Death in the Young...

... that TBX5 variants associate with and modulate the intensity of the electrical phenotype in LQTS and BrS patients. Graphical Abstract Tbx5 Nav1.5 Ca-calmodulin kinase II β_IV-spectrin Inherited arrhythmogenic syndromes Tbx5 has also been associated in GWAS studies with cardiac conduction speed...

.../open_access/funder_policies/chorus/standard_publication_model ) Abstract The spectrum of inherited arrhythmogenic diseases (IADs) includes disorders without overt structural abnormalities (i.e. primary inherited arrhythmia syndromes) and structural heart diseases (i.e. arrhythmogenic ventricular...

... Paolo; Antonio Pelliccia; Giulia Frisso; Francesco Salvatore Co-first authors. Co-last authors. These authors should be considered joint corresponding authors. Corresponding author. Giuseppe Limongelli, Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University...