Cardiogenetics <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> en-US <p><strong>PAGEPress</strong> has chosen to apply the&nbsp;<a href="" target="_blank" rel="noopener"><strong>Creative Commons Attribution NonCommercial 4.0 International License</strong></a>&nbsp;(CC BY-NC 4.0) to all manuscripts to be published.<br><br> An Open Access Publication is one that meets the following two conditions:</p> <ol> <li>the author(s) and copyright holder(s) grant(s) to all users a free, irrevocable, worldwide, perpetual right of access to, and a license to copy, use, distribute, transmit and display the work publicly and to make and distribute derivative works, in any digital medium for any responsible purpose, subject to proper attribution of authorship, as well as the right to make small numbers of printed copies for their personal use.</li> <li>a complete version of the work and all supplemental materials, including a copy of the permission as stated above, in a suitable standard electronic format is deposited immediately upon initial publication in at least one online repository that is supported by an academic institution, scholarly society, government agency, or other well-established organization that seeks to enable open access, unrestricted distribution, interoperability, and long-term archiving.</li> </ol> <p>Authors who publish with this journal agree to the following terms:</p> <ol> <li>Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.</li> <li>Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.</li> <li>Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.</li> </ol> (Paola Granata) (Tiziano Taccini) Fri, 19 Apr 2019 14:43:09 +0200 OJS 60 FLNC missense variants in familial noncompaction cardiomyopathy <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> 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 ##submission.copyrightStatement## Tue, 08 Oct 2019 14:07:32 +0200 Non-ischemic scar underlines ventricular arrhythmias in Kearns-Sayre syndrome <p>Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease in which cardiac involvement has been associated with poor prognosis. Although the most common clinical manifestation is progressive conduction system impairment, patients can suffer from ventricular arrhythmias. Yet, they show a high prevalence of sudden cardiac death, whose etiopathological mechanism is not completely understood. Cardiac magnetic resonance is a rising tool to detect subclinical heart involvement in many heart diseases and was recently able to detect nonischemic scar, which is an arrhythmogenic substrate, in patients affected by KSS.</p> Stefano Figliozzi, Alessandro Zorzi, Martina Perazzolo Marra, Alessandro Ruocco, Sabino Iliceto, Domenico Corrado, Chiara Calore ##submission.copyrightStatement## Mon, 29 Jul 2019 08:54:11 +0200 An unusual cause of right heart failure <p>Carcinoid syndrome is a paraneoplastic condition, which usually affects the lungs or gastrointestinal tract but uncommonly cardiac valves can be involved, causing carcinoid heart disease. We describe a case of a 60-year-old man presented with a twelve-month history of worsening shortness of breath and decreased exercise tolerance. Investigations confirmed grade 1 metastatic neuroendocrine carcinoma (carcinoid tumour) of likely gastrointestinal tract origin. Two months after diagnosis he underwent successful tricuspid valve replacement and pulmonary root replacement. Cytoreductive surgery of the right lobe of the liver and the ileal primary is planned. Cardiac surgery is the only definitive treatment for carcinoid heart disease and should be considered in all those with symptoms and evidence of severe valvular disease.</p> Paul Hill, Jagdip Sidhu, Rachel Bastiaenen ##submission.copyrightStatement## Wed, 24 Jul 2019 13:39:15 +0200 Response to Skinner: Risk stratification in hypertrophic cardiomyopathy: Time to think about the electrocardiogram <p>Not available</p> Juan Pablo Kaski ##submission.copyrightStatement## Wed, 24 Apr 2019 16:58:52 +0200