Cardiogenetics 2020-03-27T20:48:24+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> Ranolazine treatment for refractory angina in a patient with Hutchinson-Gilford progeria syndrome and end stage aortic stenosis 2020-03-27T20:48:21+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 2020-03-27T20:48:22+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## Non-ischemic scar underlines ventricular arrhythmias in Kearns-Sayre syndrome 2020-03-27T20:48:23+00:00 Stefano Figliozzi Alessandro Zorzi Martina Perazzolo Marra Alessandro Ruocco Sabino Iliceto Domenico Corrado Chiara Calore <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> 2019-07-29T08:54:11+00:00 ##submission.copyrightStatement## An unusual cause of right heart failure 2020-03-27T20:48:24+00:00 Paul Hill Jagdip Sidhu Rachel Bastiaenen <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> 2019-07-24T13:39:15+00:00 ##submission.copyrightStatement##