Cardiogenetics 2019-04-19T14:43:09+02:00 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> Atrial myxoma and Williams-Beuren syndrome. An incidental association? 2019-04-19T14:43:08+02:00 Giuseppe Limongelli Fiorella Fratta Annapaola Cirillo Adelaide Fusco Tommaso Marrazzo Stefania Tramonte Martina Caiazza Giuseppe Caianiello Maria Giovanna Russo <p>We report the case of a 15 years old girl with Williams-Beuren syndrome and atrial mixoma.</p> 2019-04-17T15:59:41+02:00 ##submission.copyrightStatement## Reverse Takotsubo syndrome, a case report of a rare cause for postpartum heart failure 2019-01-03T13:41:00+01:00 Leo Kilian Philip Haaf Otmar Pfister Annina S. Vischer Olav Lapaire Thilo Burkard 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. 2018-10-02T15:58:11+02:00 ##submission.copyrightStatement## A therapeutic genome editing primer for cardiologists 2019-01-03T13:41:02+01:00 Martina Caiazza Daniele Masarone Giuseppe Limongelli <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> 2018-05-16T11:22:47+02:00 ##submission.copyrightStatement## Lamin-A/C variants found in patients with cardiac conduction disease reduce sodium currents 2019-01-03T13:41:03+01:00 Michael A. Olaopa Katherine G. Spoonamore Deepak Bhakta Zhenhui Chen Patricia B.S. Celestino-Soper Peng-Sheng Chen Tomohiko Ai Matteo Vatta 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. 2018-02-22T10:52:33+01:00 ##submission.copyrightStatement##