{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T09:14:36Z","timestamp":1791969276155,"version":"4.3.4"},"reference-count":55,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,7,5]],"date-time":"2022-07-05T00:00:00Z","timestamp":1656979200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010447","name":"DZHK (German Centre for Cardiovascular Research)","doi-asserted-by":"publisher","award":["81X2100230"],"award-info":[{"award-number":["81X2100230"]}],"id":[{"id":"10.13039\/100010447","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010447","name":"DZHK (German Centre for Cardiovascular Research)","doi-asserted-by":"publisher","award":["81Z0100301"],"award-info":[{"award-number":["81Z0100301"]}],"id":[{"id":"10.13039\/100010447","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010447","name":"DZHK (German Centre for Cardiovascular Research)","doi-asserted-by":"publisher","award":["81Z3100333"],"award-info":[{"award-number":["81Z3100333"]}],"id":[{"id":"10.13039\/100010447","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010447","name":"DZHK (German Centre for Cardiovascular Research)","doi-asserted-by":"publisher","award":["2019-043"],"award-info":[{"award-number":["2019-043"]}],"id":[{"id":"10.13039\/100010447","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010447","name":"DZHK (German Centre for Cardiovascular Research)","doi-asserted-by":"publisher","award":["01KX2140"],"award-info":[{"award-number":["01KX2140"]}],"id":[{"id":"10.13039\/100010447","id-type":"DOI","asserted-by":"publisher"}]},{"name":"kinderherzen-F\u00f6rdergemeinschaft Deutsche Kinderherzzentren e.V. (Bonn, Germany)","award":["81X2100230"],"award-info":[{"award-number":["81X2100230"]}]},{"name":"kinderherzen-F\u00f6rdergemeinschaft Deutsche Kinderherzzentren e.V. (Bonn, Germany)","award":["81Z0100301"],"award-info":[{"award-number":["81Z0100301"]}]},{"name":"kinderherzen-F\u00f6rdergemeinschaft Deutsche Kinderherzzentren e.V. (Bonn, Germany)","award":["81Z3100333"],"award-info":[{"award-number":["81Z3100333"]}]},{"name":"kinderherzen-F\u00f6rdergemeinschaft Deutsche Kinderherzzentren e.V. (Bonn, Germany)","award":["2019-043"],"award-info":[{"award-number":["2019-043"]}]},{"name":"kinderherzen-F\u00f6rdergemeinschaft Deutsche Kinderherzzentren e.V. (Bonn, Germany)","award":["01KX2140"],"award-info":[{"award-number":["01KX2140"]}]},{"name":"Berliner Sparkassen Stiftung Medizin","award":["81X2100230"],"award-info":[{"award-number":["81X2100230"]}]},{"name":"Berliner Sparkassen Stiftung Medizin","award":["81Z0100301"],"award-info":[{"award-number":["81Z0100301"]}]},{"name":"Berliner Sparkassen Stiftung Medizin","award":["81Z3100333"],"award-info":[{"award-number":["81Z3100333"]}]},{"name":"Berliner Sparkassen Stiftung Medizin","award":["2019-043"],"award-info":[{"award-number":["2019-043"]}]},{"name":"Berliner Sparkassen Stiftung Medizin","award":["01KX2140"],"award-info":[{"award-number":["01KX2140"]}]},{"name":"Erich and Hanna Klessmann foundation, G\u00fctersloh, Germany (HM)","award":["81X2100230"],"award-info":[{"award-number":["81X2100230"]}]},{"name":"Erich and Hanna Klessmann foundation, G\u00fctersloh, Germany (HM)","award":["81Z0100301"],"award-info":[{"award-number":["81Z0100301"]}]},{"name":"Erich and Hanna Klessmann foundation, G\u00fctersloh, Germany (HM)","award":["81Z3100333"],"award-info":[{"award-number":["81Z3100333"]}]},{"name":"Erich and Hanna Klessmann foundation, G\u00fctersloh, Germany (HM)","award":["2019-043"],"award-info":[{"award-number":["2019-043"]}]},{"name":"Erich and Hanna Klessmann foundation, G\u00fctersloh, Germany (HM)","award":["01KX2140"],"award-info":[{"award-number":["01KX2140"]}]},{"name":"\u201cF\u00f6rderverein des Herz- und Diabeteszentrums Nordrhein-Westfalen e.V.\u201d (SS)","award":["81X2100230"],"award-info":[{"award-number":["81X2100230"]}]},{"name":"\u201cF\u00f6rderverein des Herz- und Diabeteszentrums Nordrhein-Westfalen e.V.\u201d (SS)","award":["81Z0100301"],"award-info":[{"award-number":["81Z0100301"]}]},{"name":"\u201cF\u00f6rderverein des Herz- und Diabeteszentrums Nordrhein-Westfalen e.V.\u201d (SS)","award":["81Z3100333"],"award-info":[{"award-number":["81Z3100333"]}]},{"name":"\u201cF\u00f6rderverein des Herz- und Diabeteszentrums Nordrhein-Westfalen e.V.\u201d (SS)","award":["2019-043"],"award-info":[{"award-number":["2019-043"]}]},{"name":"\u201cF\u00f6rderverein des Herz- und Diabeteszentrums Nordrhein-Westfalen e.V.\u201d (SS)","award":["01KX2140"],"award-info":[{"award-number":["01KX2140"]}]},{"name":"German Federal Ministry of Education and Research (BMBF)","award":["81X2100230"],"award-info":[{"award-number":["81X2100230"]}]},{"name":"German Federal Ministry of Education and Research (BMBF)","award":["81Z0100301"],"award-info":[{"award-number":["81Z0100301"]}]},{"name":"German Federal Ministry of Education and Research (BMBF)","award":["81Z3100333"],"award-info":[{"award-number":["81Z3100333"]}]},{"name":"German Federal Ministry of Education and Research (BMBF)","award":["2019-043"],"award-info":[{"award-number":["2019-043"]}]},{"name":"German Federal Ministry of Education and Research (BMBF)","award":["01KX2140"],"award-info":[{"award-number":["01KX2140"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>Myocarditis is an inflammatory disease of the heart. Pediatric myocarditis with the dilated cardiomyopathy (DCM) phenotype may be caused by likely pathogenic or pathogenic genetic variants [(L)P] in cardiomyopathy (CMP) genes. Systematic analysis of immune disorder gene defects has not been performed so far. We analyzed 12 patients with biopsy-proven myocarditis and the DCM phenotype together with their parents using whole-exome sequencing (WES). The WES data were filtered for rare pathogenic variants in CMP (n = 89) and immune disorder genes (n = 631). Twelve children with a median age of 2.9 (1.0\u20136.8) years had a mean left ventricular ejection fraction of 28% (22\u201332%) and myocarditis was confirmed by endomyocardial biopsy. Patients with primary immunodeficiency were excluded from the study. Four patients underwent implantation of a ventricular assist device and subsequent heart transplantation. Genetic analysis of the 12 families revealed an (L)P variant in the CMP gene in 8\/12 index patients explaining DCM. Screening of recessive immune disorder genes identified a heterozygous (L)P variant in 3\/12 index patients. This study supports the genetic impact of CMP genes for pediatric myocarditis with the DCM phenotype. Piloting the idea that additional immune-related genetic defects promote myocarditis suggests that the presence of heterozygous variants in these genes needs further investigation. Altered cilium function might play an additional role in inducing inflammation in the context of CMP.<\/jats:p>","DOI":"10.3390\/jcdd9070216","type":"journal-article","created":{"date-parts":[[2022,7,5]],"date-time":"2022-07-05T10:21:33Z","timestamp":1657016493000},"page":"216","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis\u2014Further Impact of Heterozygous Immune Disorder Gene Variants?"],"prefix":"10.3390","volume":"9","author":[{"given":"Franziska","family":"Seidel","sequence":"first","affiliation":[{"name":"Max Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany"},{"name":"Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Berlin, 13353 Berlin, Germany"},{"name":"Experimental and Clinical Research Center, A Cooperation between the Max-Delbr\u00fcck-Center for Molecular Medicine in the Helmholtz Association and the Charit\u00e9-Universit\u00e4tsmedizin Berlin, 13125 Berlin, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, 10785 Berlin, Germany"},{"name":"Department of Pediatric Cardiology, Charit\u00e9-Universit\u00e4tsmedizin Berlin, 13353 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai Thorsten","family":"Laser","sequence":"additional","affiliation":[{"name":"Center for Congenital Heart Disease\/Pediatric Cardiology, Heart-and Diabetescenter NRW, University Clinic of Ruhr University Bochum, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0203-2498","authenticated-orcid":false,"given":"Karin","family":"Klingel","sequence":"additional","affiliation":[{"name":"Cardiopathology, Institute for Pathology and Neuropathology, University Hospital T\u00fcbingen, 72016 T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7947-2881","authenticated-orcid":false,"given":"Josephine","family":"Dartsch","sequence":"additional","affiliation":[{"name":"Max Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany"},{"name":"Experimental and Clinical Research Center, A Cooperation between the Max-Delbr\u00fcck-Center for Molecular Medicine in the Helmholtz Association and the Charit\u00e9-Universit\u00e4tsmedizin Berlin, 13125 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Theisen","sequence":"additional","affiliation":[{"name":"Max Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany"},{"name":"Experimental and Clinical Research Center, A Cooperation between the Max-Delbr\u00fcck-Center for Molecular Medicine in the Helmholtz Association and the Charit\u00e9-Universit\u00e4tsmedizin Berlin, 13125 Berlin, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, 10785 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0019-6325","authenticated-orcid":false,"given":"Thomas","family":"Pickardt","sequence":"additional","affiliation":[{"name":"National Register for Congenital Heart Defects, 13353 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3051-1763","authenticated-orcid":false,"given":"Manuel","family":"Holtgrewe","sequence":"additional","affiliation":[{"name":"Core Unit Bioinformatics, Berlin Institute of Health (BIH), 10117 Berlin, Germany"},{"name":"Core Facility Bioinformatik, Charit\u00e9-Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health, 10117 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6899-7693","authenticated-orcid":false,"given":"Anna","family":"G\u00e4rtner","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann-Institute for Cardiovascular Research and Development & Clinic for Thoracic and Cardiovascular Surgery, Heart-and Diabetescenter NRW, University Hospital of the Ruhr University Bochum, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Berger","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Berlin, 13353 Berlin, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, 10785 Berlin, Germany"},{"name":"Department of Pediatric Cardiology, Charit\u00e9-Universit\u00e4tsmedizin Berlin, 13353 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Beule","sequence":"additional","affiliation":[{"name":"Max Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany"},{"name":"Core Unit Bioinformatics, Berlin Institute of Health (BIH), 10117 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9722-0007","authenticated-orcid":false,"given":"Hendrik","family":"Milting","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann-Institute for Cardiovascular Research and Development & Clinic for Thoracic and Cardiovascular Surgery, Heart-and Diabetescenter NRW, University Hospital of the Ruhr University Bochum, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Schubert","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Berlin, 13353 Berlin, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, 10785 Berlin, Germany"},{"name":"Center for Congenital Heart Disease\/Pediatric Cardiology, Heart-and Diabetescenter NRW, University Clinic of Ruhr University Bochum, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5925-9912","authenticated-orcid":false,"given":"Sabine","family":"Klaassen","sequence":"additional","affiliation":[{"name":"Max Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany"},{"name":"Experimental and Clinical Research Center, A Cooperation between the Max-Delbr\u00fcck-Center for Molecular Medicine in the Helmholtz Association and the Charit\u00e9-Universit\u00e4tsmedizin Berlin, 13125 Berlin, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, 10785 Berlin, Germany"},{"name":"Department of Pediatric Cardiology, Charit\u00e9-Universit\u00e4tsmedizin Berlin, 13353 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4744-5421","authenticated-orcid":false,"given":"Jirko","family":"K\u00fchnisch","sequence":"additional","affiliation":[{"name":"Max Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany"},{"name":"Experimental and Clinical Research Center, A Cooperation between the Max-Delbr\u00fcck-Center for Molecular Medicine in the Helmholtz Association and the Charit\u00e9-Universit\u00e4tsmedizin Berlin, 13125 Berlin, Germany"},{"name":"DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, 10785 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/s41569-020-00435-x","article-title":"Myocarditis and inflammatory cardiomyopathy: Current evidence and future directions","volume":"18","author":"Tschope","year":"2021","journal-title":"Nat. Rev. Cardiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1161\/CIRCULATIONAHA.113.001372","article-title":"Diagnosis and treatment of myocarditis in children in the current era","volume":"129","author":"Canter","year":"2014","journal-title":"Circulation"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1161\/CIRCOUTCOMES.112.965749","article-title":"Demographics, trends, and outcomes in pediatric acute myocarditis in the United States, 2006 to 2011","volume":"5","author":"Ghelani","year":"2012","journal-title":"Circ. Cardiovasc. Qual. Outcomes"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.ahj.2017.02.027","article-title":"Toward evidence-based diagnosis of myocarditis in children and adolescents: Rationale, design, and first baseline data of MYKKE, a multicenter registry and study platform","volume":"187","author":"Messroghli","year":"2017","journal-title":"Am. Heart J."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e13548","DOI":"10.1111\/petr.13548","article-title":"Severe heart failure and the need for mechanical circulatory support and heart transplantation in pediatric patients with myocarditis: Results from the prospective multicenter registry \u201cMYKKE\u201d","volume":"23","author":"Schubert","year":"2019","journal-title":"Pediatric Transplant."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.ijcard.2022.03.026","article-title":"Clinical characteristics and outcome of biopsy-proven myocarditis in children\u2014Results of the German prospective multicentre registry \u201cMYKKE\u201d","volume":"357","author":"Seidel","year":"2022","journal-title":"Int. J. Cardiol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"e007405","DOI":"10.1161\/CIRCHEARTFAILURE.120.007405","article-title":"Management of Acute Myocarditis and Chronic Inflammatory Cardiomyopathy: An Expert Consensus Document","volume":"13","author":"Ammirati","year":"2020","journal-title":"Circ. Heart Fail."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e012531","DOI":"10.1161\/JAHA.119.012531","article-title":"RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy","volume":"8","author":"Degener","year":"2019","journal-title":"J. Am. Heart Assoc."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1056\/NEJMoa021715","article-title":"The incidence of pediatric cardiomyopathy in two regions of the United States","volume":"348","author":"Lipshultz","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1007\/s11886-022-01680-x","article-title":"State-of-the-Art of Endomyocardial Biopsy on Acute Myocarditis and Chronic Inflammatory Cardiomyopathy","volume":"24","author":"Ammirati","year":"2022","journal-title":"Curr. Cardiol. Rep."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e123","DOI":"10.1161\/CIR.0000000000001001","article-title":"Diagnosis and Management of Myocarditis in Children: A Scientific Statement From the American Heart Association","volume":"144","author":"Law","year":"2021","journal-title":"Circulation"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e003250","DOI":"10.1161\/CIRCGEN.120.003250","article-title":"Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis","volume":"14","author":"Seidel","year":"2021","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2636","DOI":"10.1093\/eurheartj\/eht210","article-title":"Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases","volume":"34","author":"Caforio","year":"2013","journal-title":"Eur. Heart J."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1161\/CIRCULATIONAHA.108.769489","article-title":"Predictors of outcome in patients with suspected myocarditis","volume":"118","author":"Kindermann","year":"2008","journal-title":"Circulation"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1161\/CIRCULATIONAHA.106.670554","article-title":"Connecting the missing link between dilated cardiomyopathy and viral myocarditis: Virus, cytoskeleton, and innate immunity","volume":"115","author":"Maekawa","year":"2007","journal-title":"Circulation"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1161\/CIRCRESAHA.117.310221","article-title":"Inflammatory Cardiomyopathic Syndromes","volume":"121","author":"Trachtenberg","year":"2017","journal-title":"Circ. Res."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"27","DOI":"10.4049\/jimmunol.0800861","article-title":"Cutting edge: Cardiac myosin activates innate immune responses through TLRs","volume":"183","author":"Zhang","year":"2009","journal-title":"J. Immunol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1016\/j.jacbts.2021.06.001","article-title":"Myopathic Cardiac Genotypes Increase Risk for Myocarditis","volume":"6","author":"Kontorovich","year":"2021","journal-title":"JACC Basic Transl. Sci."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2913","DOI":"10.1016\/j.jacc.2015.10.049","article-title":"A Genetically Vulnerable Myocardium May Predispose to Myocarditis","volume":"66","author":"Campuzano","year":"2015","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1161\/hc3401.095198","article-title":"Advances in the understanding of myocarditis","volume":"104","author":"Liu","year":"2001","journal-title":"Circulation"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1016\/j.jacc.2017.01.043","article-title":"Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis","volume":"69","author":"Belkaya","year":"2017","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e015289","DOI":"10.1161\/JAHA.119.015289","article-title":"Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene","volume":"9","author":"Poller","year":"2020","journal-title":"J. Am. Heart Assoc."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e002744","DOI":"10.1161\/CIRCGEN.119.002744","article-title":"Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis: Highlights From Genetic Testing","volume":"13","author":"Ader","year":"2020","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e002373","DOI":"10.1161\/CIRCGEN.118.002373","article-title":"Desmoplakin Variant-Associated Arrhythmogenic Cardiomyopathy Presenting as Acute Myocarditis","volume":"11","author":"Reichl","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"3098","DOI":"10.1016\/j.jacc.2020.04.048","article-title":"Lymphocytic Myocarditis: A Genetically Predisposed Disease?","volume":"75","author":"Artico","year":"2020","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1161\/01.CIR.83.2.515","article-title":"HLA class II (DR and DQ) antigen associations in idiopathic dilated cardiomyopathy. Validation study and meta-analysis of published HLA association studies","volume":"83","author":"Carlquist","year":"1991","journal-title":"Circulation"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.jpeds.2008.05.050","article-title":"Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain","volume":"153","author":"Haerynck","year":"2008","journal-title":"J. Pediatrics"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"23208","DOI":"10.1074\/jbc.M109.047464","article-title":"A role for Toll-like receptor 3 variants in host susceptibility to enteroviral myocarditis and dilated cardiomyopathy","volume":"285","author":"Gorbea","year":"2010","journal-title":"J. Biol. Chem."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.ijcard.2019.10.006","article-title":"First paediatric cohort for the evaluation of inflammation in endomyocardial biopsies derived from congenital heart surgery","volume":"303","author":"Degener","year":"2020","journal-title":"Int. J. Cardiol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/S0046-8177(87)80363-5","article-title":"Myocarditis: The Dallas criteria","volume":"18","author":"Aretz","year":"1987","journal-title":"Hum. Pathol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"48","DOI":"10.3389\/fcvm.2019.00048","article-title":"Cardio-Immunology of Myocarditis: Focus on Immune Mechanisms and Treatment Options","volume":"6","author":"Maisch","year":"2019","journal-title":"Front. Cardiovasc. Med."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1161\/01.CIR.93.5.841","article-title":"Report of the 1995 World Health Organization\/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies","volume":"93","author":"Richardson","year":"1996","journal-title":"Circulation"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1111\/cge.13645","article-title":"Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3","volume":"96","author":"Kuhnisch","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"W162","DOI":"10.1093\/nar\/gkaa241","article-title":"VarFish: Comprehensive DNA variant analysis for diagnostics and research","volume":"48","author":"Holtgrewe","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1161\/CIRCULATIONAHA.119.037661","article-title":"Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy","volume":"141","author":"Mazzarotto","year":"2020","journal-title":"Circulation"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.jaci.2016.05.042","article-title":"Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders","volume":"139","author":"Sorte","year":"2017","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/s10875-019-00737-x","article-title":"Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee","volume":"40","author":"Tangye","year":"2020","journal-title":"J. Clin. Immunol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1007\/s10875-021-00980-1","article-title":"The Ever-Increasing Array of Novel Inborn Errors of Immunity: An Interim Update by the IUIS Committee","volume":"41","author":"Tangye","year":"2021","journal-title":"J. Clin. Immunol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.cardfail.2018.03.004","article-title":"Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline","volume":"24","author":"Hershberger","year":"2018","journal-title":"J. Card. Fail."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"270ra6","DOI":"10.1126\/scitranslmed.3010134","article-title":"Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease","volume":"7","author":"Roberts","year":"2015","journal-title":"Sci. Transl. Med."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: Predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Gaertner, A., Burr, L., Klauke, B., Brodehl, A., Laser, K.-T., Klingel, K., Tiesmeier, J., Schulz, U., zu Knyphausen, E., and Gummert, J. (2022). Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant a-Dystroglycan Pattern. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23126685"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/s41569-019-0284-0","article-title":"Genetics of dilated cardiomyopathy: Practical implications for heart failure management","volume":"17","author":"Rosenbaum","year":"2019","journal-title":"Nat. Rev. Cardiol."},{"key":"ref_46","first-page":"1198","article-title":"The Quest for Antiinflammatory and Immunomodulatory Strategies in Heart Failure","volume":"106","author":"Tschope","year":"2019","journal-title":"Clin. Pharmacol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/humu.20656","article-title":"Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations","volume":"29","author":"Schwabe","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2666","DOI":"10.1172\/JCI129827","article-title":"Cilia, mitochondria, and cardiac development","volume":"129","author":"Chaudhry","year":"2019","journal-title":"J. Clin. Investig."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"127","DOI":"10.3389\/fgene.2019.00127","article-title":"Opportunities and Challenges for Molecular Understanding of Ciliopathies\u2014The 100,000 Genomes Project","volume":"10","author":"Wheway","year":"2019","journal-title":"Front. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"e202102089","DOI":"10.1083\/jcb.202102089","article-title":"Teasing out function from morphology: Similarities between primary cilia and immune synapses","volume":"220","author":"Douanne","year":"2021","journal-title":"J. Cell Biol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1016\/j.ajhg.2018.10.016","article-title":"Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus","volume":"103","author":"Fassad","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"14279","DOI":"10.1038\/ncomms14279","article-title":"X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3","volume":"8","author":"Olcese","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"10814","DOI":"10.1038\/s41598-020-66453-4","article-title":"The transcriptional signature associated with human motile cilia","volume":"10","author":"Patir","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Pala, R., Jamal, M., Alshammari, Q., and Nauli, S.M. (2018). The Roles of Primary Cilia in Cardiovascular Diseases. Cells, 7.","DOI":"10.3390\/cells7120233"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"2342","DOI":"10.1161\/CIRCULATIONAHA.117.028752","article-title":"Fibroblast Primary Cilia Are Required for Cardiac Fibrosis","volume":"139","author":"Villalobos","year":"2019","journal-title":"Circulation"}],"container-title":["Journal of Cardiovascular Development and Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2308-3425\/9\/7\/216\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:42:59Z","timestamp":1760139779000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2308-3425\/9\/7\/216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,5]]},"references-count":55,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,7]]}},"alternative-id":["jcdd9070216"],"URL":"https:\/\/doi.org\/10.3390\/jcdd9070216","relation":{},"ISSN":["2308-3425"],"issn-type":[{"value":"2308-3425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,5]]}}}