Cardiogenetics 2020-07-10T20:56:22+00:00 Paola Granata Open Journal Systems <p><strong>Cardiogenetics</strong>&nbsp;publishes high quality original research papers, review articles, short reports, news and views, with the aim of connecting the scientific (bench) to the clinical (bedside) world.</p> <p>As an essential resource to general physicians, cardiologists, and geneticists,&nbsp;<em>Cardiogenetics</em>&nbsp;primary purpose is to report Original Research in the following areas: Clinical and molecular aspects of inherited heart diseases (IHDs): genotype-phenotype findings; follow-up data from IHD clinics; clinical findings from large and informative families with IHDs; studies on molecular imaging in IHDs; Clinical and molecular aspects of rare diseases: clinical, imaging and molecular findings of rare diseases (RDs) with cardiovascular involvement; Pharmacogenetics and Pharmacogenomics: studies involving new drugs or well known therapies in IHDs, RDs, and cardiovascular medicine; genetic/genomic profile and response to therapies; Stem cells studies: clinical trials and experimental studies involving cell studies/cell therapy.</p> <p>A space will be given to negative studies in cardiogenetics: this space will be dedicated to clinical, molecular, cellular, pharmacological studies with a solid scientific background, but leading to negative results.</p> <p><strong>Cardiogenetics</strong> will also welcome: Review articles: To be oriented towards all the aspects of cardiogenetics (clinical, molecular, cellular, pharmacological); Clinical and Experimental Cases/Hypothesis: Clinical (single) cases regarding IHDs or RDs; single experimental design with positive and/or negative results; Methods and Techniques: Experimental plan and/or new techniques in the field of molecular genetics, stem cells, pharmacogenomics, etc; Images in Cardiogenetics: Images and/or videos regarding “particular” clinical features, molecular imaging, and experimental (molecular, etc.) results; News and Views: commentary, summary, reports of outstanding articles in other journals for the general public; Interactive Clinical Cases: Interesting cases with 3-5 questions.</p> <p class="p1"><span class="s1">This journal does not apply charge for publication to Authors as it is supported by institutional funds.</span></p> Assessment of disease-associated missense variants in RYR2 on transcript splicing 2020-07-10T20:56:19+00:00 Damilola Olubando Huw Thomas Minoru Horie Raymond T. O’Keefe Luigi Venetucci William Newman <p>Heterozygous <em>RYR2</em> missense variants cause catecholaminergic polymorphic ventricular tachycardia. Rarely, loss of function variants can result in ventricular arrhythmias. We used splice prediction tools and an <em>ex vivo</em> splicing assay to investigate whether <em>RYR2</em> missense variants result in altered splicing. Ten <em>RYR2</em> variants were consistently predicted to disrupt splicing, however none altered splicing in the splicing assay. In summary, missense <em>RYR2</em> variants are unlikely to cause disease by altered splicing.</p> 2020-06-01T15:35:01+00:00 ##submission.copyrightStatement## Sudden cardiac death in young athletes: Literature review of molecular basis 2020-07-10T20:56:20+00:00 Cristina Mazzaccara Bruno Mirra Ferdinando Barretta Barbara Lombardo Olga Scudiero Giulia Frisso <p>Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue among medical personnel, sports communities and laypersons alike, and generates significant media attention. The most frequent cause of SCD is a hidden inherited cardiomyopathy, the athletes may not even be aware of. Predictive medicine, by searching the presence of pathogenic alterations in cardiac genes, may be an integrative tool, besides the conventional ones used in cardiology (mainly electro and echocardiogram), to reach a definitive diagnosis in athletes showing signs/symptoms, even borderline, of inherited cardiomyopathy/ channelopathy, and in athletes presenting family history of SCD and/or of hereditary cardiac disease. In this review, we revised the molecular basis of the major cardiac diseases associated to sudden cardiac death and the clinical molecular biology approach that can be used to perform risk assessment at DNA level of sudden cardiac death, contributing to the early implementation of adequate therapy. Alterations can occur in ion channel genes, in genes encoding desmosomal and junctional proteins, sarcomeric and Z-disc proteins, proteins for the cytoskeleton and the nuclear envelope. The advent of next generation sequencing (NGS) technology has provided the means to search for mutations in all these genes, at the same time. Therefore, this molecular approach should be the preferred methodology for the aforementioned purpose.</p> 2020-04-07T10:59:09+00:00 ##submission.copyrightStatement## Ranolazine treatment for refractory angina in a patient with Hutchinson-Gilford progeria syndrome and end stage aortic stenosis 2020-07-10T20:56:21+00:00 Giuseppe Limongelli Emanuele Monda Giovanbattista Capozzi Martina Caiazza Maria Giovanna Russo <p>Management of symptoms in patients with inoperable aortic stenosis is often hard in clinical practice. We report a case of a patient with Hutchinson-Gilford progeria syndrome and end-stage aortic stenosis, considered not suitable for surgical or percutaneous approach, to whom the administration of ranolazine resulted in a considerable improvement of angina, refractory to other treatments.</p> 2020-01-30T00:00:00+00:00 ##submission.copyrightStatement## FLNC missense variants in familial noncompaction cardiomyopathy 2020-07-10T20:56:22+00:00 Jaap I. van Waning Yvonne M. Hoedemaekers Wouter P. te Rijdt Arne I. Jpma Daphne Heijsman Kadir Caliskan Elke S. Hoendermis Tineke P. Willems Arthur van den Wijngaard Albert Suurmeijer Marjon A. van Slegtenhorst Jan D.H. Jongbloed Danielle F. Majoor-Krakauer Paul A. van der Zwaag <p>The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (<em>FLNC</em>) have been linked to HCM and DCM. We expand the spectrum of <em>FLNC</em> related cardiomyopathies by presenting two families with likely pathogenic <em>FLNC</em> variants showing familial segregation of NCCM and concurrent coarctation of the aorta and/or mitral valve abnormalities.</p> 2019-10-08T14:07:32+00:00 ##submission.copyrightStatement##