Cardiogenetics https://pagepressjournals.org/index.php/cardiogen <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"><strong>The journal is completely free: no charge for publication.</strong></span></p> PAGEPress Scientific Publications, Pavia, Italy en-US Cardiogenetics 2035-8253 <p><strong>PAGEPress</strong> has chosen to apply the&nbsp;<a href="http://creativecommons.org/licenses/by-nc/4.0/" 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> Reverse Takotsubo syndrome, a case report of a rare cause for postpartum heart failure https://pagepressjournals.org/index.php/cardiogen/article/view/7671 Predominant causes for newly diagnosed postpartum heart failure are preeclampsia and peripartum cardiomyopathy. Being an anatomical variant of Takotsubo syndrome (TTS) reverse TTS in this period is rare. We present a 36 year old patient, who had delivered triplets by cesarean section. Because of postpartum bleeding she was administered sulprostone. Later she was transferred to the Intensive Care Unit with sudden development of dyspnea, tachypnea and tachycardia. Clinical symptoms, laboratory findings and chest radiograph showed signs of acute heart failure. Transthoracic echocardiography (TTE) revealed reverse TTS with moderately reduced left ventricular ejection fraction (LVEF 39%). The patient stabilized with loop diuretic, angiotensine-converting enzyme inhibitors and beta-blockade. Breast-feeding was discouraged and bromocriptine administered. Left ventricular function normalized (LVEF 60%) within four weeks. TTS should be considered in patients with early postpartum development of heart failure. Rapid cardiac recompensation after the start of adequate therapy and complete resolution of clinical symptoms and TTE findings are typical for postpartum TTS. Leo Kilian Philip Haaf Otmar Pfister Annina S. Vischer Olav Lapaire Thilo Burkard ##submission.copyrightStatement## http://creativecommons.org/licenses/by-nc/4.0 2018-10-02 2018-10-02 8 1 10.4081/cardiogenetics.2018.7671 A therapeutic genome editing primer for cardiologists https://pagepressjournals.org/index.php/cardiogen/article/view/7262 <p>Genome editing, or genome engineering is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome of a living organism using engineered nucleases, or <em>molecular scissors</em>. Genome editing is being rapidly adopted into all fields of biomedical research, including the cardiovascular field, where it has facilitated a greater understanding of lipid metabolism, electrophysiology, cardiomyopathies, and other cardiovascular disorders, has helped to create a wider variety of cellular and animal models, and has opened the door to a new class of therapies. In this review, we discuss the applications of <em>in vivo</em> genome-editing therapies for cardiovascular disorder.</p> Martina Caiazza Daniele Masarone Giuseppe Limongelli ##submission.copyrightStatement## http://creativecommons.org/licenses/by-nc/4.0 2018-05-16 2018-05-16 8 1 10.4081/cardiogenetics.2018.7262 Lamin-A/C variants found in patients with cardiac conduction disease reduce sodium currents https://pagepressjournals.org/index.php/cardiogen/article/view/7127 Variants in the <em>LMNA</em> gene, which encodes Lamin-A/C, have been commonly associated with cardiac conduction system diseases usually accompanying cardiomyopathy. We have seen two unrelated patients who presented with atrioventricular block (AVB) with or without cardiomyopathy. Genetic testing identified the <em>LMNA</em> missense variant c.1634G&gt;A (p.R545H) and the single nucleotide deletion c.859delG (p.A287Lfs*193). The deletion leads to a shift in the reading frame and subsequent protein truncation. Since impaired Na<sub>v</sub>1.5 function has been reported to cause AVB, we sought to investigate the effects of abnormal Lamins on Na<sub>v</sub>1.5 in HEK-293 cells using patch-clamp methods. Patch-clamp studies showed that p.R545H decreased the peak I<sub>Na</sub> by approximately 70%. The voltage-dependency of steady state inactivation was rightward shifted in the cells transfected with p.R545H. The p.A287Lfs*193 also decreased the peak I<sub>Na</sub> by approximately 62%. The voltagedependency of steady state inactivation was rightward shifted in the cells transfected with p.A287Lfs*193. Variants of the <em>LMNA</em> gene caused significant reduction of the peak I<sub>Na</sub> in HEK-293 cells, which may account for the patients’ AVB. Michael A. Olaopa Katherine G. Spoonamore Deepak Bhakta Zhenhui Chen Patricia B.S. Celestino-Soper Peng-Sheng Chen Tomohiko Ai Matteo Vatta ##submission.copyrightStatement## http://creativecommons.org/licenses/by-nc/4.0 2018-02-22 2018-02-22 8 1 10.4081/cardiogenetics.2018.7127 Risk of sudden cardiac death in childhood hypertrophic cardiomyopathy: Time to solve the mystery https://pagepressjournals.org/index.php/cardiogen/article/view/7201 Hypertrophic cardiomyopathy (HCM) is defined as left ventricular hypertrophy in the absence of loading conditions sufficient to cause the observed abnormality. The true prevalence in childhood is unknown; the aetiology is more heterogeneous than that seen in adult populations, and includes inborn errors of metabolism, malformation syndromes and neuromuscular syndromes. However, one of the greatest clinical challenges in managing young patients with HCM is identifying those at greatest risk of sudden cardiac death. Gabrielle Norrish Juan Pablo Kaski ##submission.copyrightStatement## http://creativecommons.org/licenses/by-nc/4.0 2018-01-29 2018-01-29 8 1 10.4081/cardiogenetics.2018.7201