{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T15:45:57Z","timestamp":1793202357773,"version":"4.5.0"},"reference-count":30,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>The X-linked Danon disease manifests by severe cardiomyopathy, myopathy, and neuropsychiatric problems. We designed this registry to generate a comprehensive picture of clinical presentations and outcome of patients with Danon disease in cardiomyopathy centers throughout Europe.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Clinical and genetic data were collected in 16 cardiology centers from 8 European countries.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      The cohort comprised 30 male and 27 female patients. The age at diagnosis was birth to 42 years in men and 2 to 65 in women. Cardiac involvement was observed in 96%. Extracardiac manifestations were prominent in men but not in women. Left ventricular (LV) hypertrophy was reported in 73% of male and 74% of female patients. LV systolic dysfunction was reported in 40% of men (who had LV ejection fraction, 34\u00b111%) and 59% of women (LV ejection fraction, 28\u00b113%). The risk of arrhythmia and heart failure was comparable among sexes. The age of first heart failure hospitalization was lower in men (18\u00b16 versus 28\u00b117 years;\n                      <jats:italic>P<\/jats:italic>\n                      &lt;0.003). Heart failure was the leading cause of death (10 of 17; 59%), and LV systolic dysfunction predicted an adverse outcome. Eight men and 8 women (28%) underwent heart transplantation or received an LV assist device. Our cohort suggests better prognosis of female compared with male heart transplant recipients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Danon disease presents earlier in men than in women and runs a malignant course in both sexes, due to cardiac complications. Cardiomyopathy features, heart failure and arrhythmia, are similar among the sexes. Clinical diagnosis and management is extremely challenging in women due to phenotypic diversity and the absence of extracardiac manifestations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circgen.120.003117","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T12:00:28Z","timestamp":1604577628000},"source":"Crossref","is-referenced-by-count":52,"title":["Clinical Profile of Cardiac Involvement in Danon Disease"],"prefix":"10.1161","volume":"13","author":[{"given":"Dor","family":"Lotan","sequence":"first","affiliation":[{"name":"Leviev Heart Center, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Israel (D.L., Y.W., M.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2171-8508","authenticated-orcid":true,"given":"Joel","family":"Salazar-Mendiguch\u00eda","sequence":"additional","affiliation":[{"name":"Cardiomyopathy Unit, Hospital Universitari de Bellvitge, Barcelona, Spain (J.S.-M.)."},{"name":"Health in Code, Spain (J.S.-M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8813-573X","authenticated-orcid":true,"given":"Jens","family":"Mogensen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Odense University Hospital, Denmark (J.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faizan","family":"Rathore","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University College Dublin School of Medicine, Mater Misericordiae University Hospital, Ireland (F.R., W.A., J.G.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aris","family":"Anastasakis","sequence":"additional","affiliation":[{"name":"Unit of Inherited Diseases, Onassis Cardiac Surgery Center, Athens, Greece (A.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Kaski","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital Center for Inherited Cardiovascular Diseases, University College London Institute of Cardiovascular Science, United Kingdom (J.K.)."},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (J.K., P.G.-P., P.C., A.B., G.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5470-2257","authenticated-orcid":true,"given":"Pablo","family":"Garcia-Pavia","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, CIBERCV, Madrid, Spain (P.G.-P.)."},{"name":"Universidad Francisco de Vitoria, Pozuelo de Alarc\u00f3n, Spain (P.G.-P.)."},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (J.K., P.G.-P., P.C., A.B., G.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iacopo","family":"Olivotto","sequence":"additional","affiliation":[{"name":"Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy (I.O.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1782-1118","authenticated-orcid":true,"given":"Philippe","family":"Charron","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Paris, France (P.C.)."},{"name":"APHP, Centre de r\u00e9f\u00e9rence des maladies cardiaques h\u00e9r\u00e9ditaires ou rares, Paris, France (P.C.)."},{"name":"INSERM UMR S1166, ICAN, Paris, France (P.C.)."},{"name":"H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France (P.C.)."},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (J.K., P.G.-P., P.C., A.B., G.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0295-0440","authenticated-orcid":true,"given":"Elena","family":"Biagini","sequence":"additional","affiliation":[{"name":"Cardio-Thoracic-Vascular Department, S. Orsola Hospital, University of Bologna, Bologna, Italy (E.B.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar","family":"Baban","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology and Arrhythmia\/Syncope Units, Bambino Ges\u00f9 Children Hospital and Research Institute, Rome (A.B.)."},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (J.K., P.G.-P., P.C., A.B., G.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Limongelli","sequence":"additional","affiliation":[{"name":"Monaldi Hospital, AO Colli, Second University of Naples, Italy (G.L.)."},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (J.K., P.G.-P., P.C., A.B., G.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1416-4594","authenticated-orcid":true,"given":"Waddah","family":"Ashram","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University College Dublin School of Medicine, Mater Misericordiae University Hospital, Ireland (F.R., W.A., J.G.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yishay","family":"Wasserstrum","sequence":"additional","affiliation":[{"name":"Leviev Heart Center, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Israel (D.L., Y.W., M.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3617-8738","authenticated-orcid":true,"given":"Joseph","family":"Galvin","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University College Dublin School of Medicine, Mater Misericordiae University Hospital, Ireland (F.R., W.A., J.G.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3608-4210","authenticated-orcid":true,"given":"Esther","family":"Zorio","sequence":"additional","affiliation":[{"name":"Inherited Heart Diseases Unit and CaFaMuSMe Research Group, Hospital Universitari i Polit\u00e8cnic La Fe and IIS La Fe, Valencia and Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain (E.Z.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0347-6672","authenticated-orcid":true,"given":"Attilio","family":"Iacovoni","sequence":"additional","affiliation":[{"name":"Department of Cardiology, ASST Papa Giovanni XXIII, Bergamo, Italy (A.I.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5776-0623","authenticated-orcid":true,"given":"Lorenzo","family":"Monserrat","sequence":"additional","affiliation":[{"name":"Health in Code, Hospital Mar\u00edtimo de Oza, As Xubias, A Coru\u00f1a, Spain (L.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4805-7319","authenticated-orcid":true,"given":"Paolo","family":"Spirito","sequence":"additional","affiliation":[{"name":"Hypertrophic Cardiomyopathy Center, Policlinico di Monza, Italy (P.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4707-212X","authenticated-orcid":true,"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, A.O. 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