Clinical Profile of Cardiac Involvement in Danon Disease-Reference-Cited by-同舟云学术

Clinical Profile of Cardiac Involvement in Danon Disease

Published:2020-12 Issue:6 Volume:13 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Lotan Dor¹,Salazar-Mendiguchía Joel²³^ORCID,Mogensen Jens⁴^ORCID,Rathore Faizan⁵,Anastasakis Aris⁶,Kaski Juan⁷⁸,Garcia-Pavia Pablo⁹¹⁰⁸^ORCID,Olivotto Iacopo¹¹,Charron Philippe¹²¹³¹⁴¹⁵⁸^ORCID,Biagini Elena¹⁶^ORCID,Baban Anwar¹⁷⁸,Limongelli Giuseppe¹⁸⁸,Ashram Waddah⁵^ORCID,Wasserstrum Yishay¹,Galvin Joseph⁵^ORCID,Zorio Esther¹⁹^ORCID,Iacovoni Attilio²⁰^ORCID,Monserrat Lorenzo²¹^ORCID,Spirito Paolo²²^ORCID,Iascone Maria²³^ORCID,Arad Michael¹^ORCID,Mandel Chana,Morillas Herminio,Gonzalez-Lopez Esther,Dominguez Fernando,Marchetti Daniela,Pezzoli Laura,Anne Walsh Katie,McGorrian Catherine,Ditaranto Raffaello,Vitale Giovanni,Villard Eric,Richard Pascale,Monda Emanuele,Caiazza Martina,Passantino Silvia,Girolami Francesca,Drago Fabrizio,Adorisio Rachele,Field Ella,Freimark Dov,Baandrup Ulrik

Affiliation:

1. Leviev Heart Center, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Israel (D.L., Y.W., M.A.).

2. Cardiomyopathy Unit, Hospital Universitari de Bellvitge, Barcelona, Spain (J.S.-M.).

3. Health in Code, Spain (J.S.-M.).

4. Department of Cardiology, Odense University Hospital, Denmark (J.M.).

5. Department of Cardiology, University College Dublin School of Medicine, Mater Misericordiae University Hospital, Ireland (F.R., W.A., J.G.).

6. Unit of Inherited Diseases, Onassis Cardiac Surgery Center, Athens, Greece (A.A.).

7. Great Ormond Street Hospital Center for Inherited Cardiovascular Diseases, University College London Institute of Cardiovascular Science, United Kingdom (J.K.).

8. European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (J.K., P.G.-P., P.C., A.B., G.L.).

9. Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, CIBERCV, Madrid, Spain (P.G.-P.).

10. Universidad Francisco de Vitoria, Pozuelo de Alarcón, Spain (P.G.-P.).

11. Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy (I.O.).

12. Sorbonne Université, Paris, France (P.C.).

13. APHP, Centre de référence des maladies cardiaques héréditaires ou rares, Paris, France (P.C.).

14. INSERM UMR S1166, ICAN, Paris, France (P.C.).

15. Hôpital Pitié-Salpêtrière, Paris, France (P.C.).

16. Cardio-Thoracic-Vascular Department, S. Orsola Hospital, University of Bologna, Bologna, Italy (E.B.).

17. Pediatric Cardiology and Arrhythmia/Syncope Units, Bambino Gesù Children Hospital and Research Institute, Rome (A.B.).

18. Monaldi Hospital, AO Colli, Second University of Naples, Italy (G.L.).

19. Inherited Heart Diseases Unit and CaFaMuSMe Research Group, Hospital Universitari i Politècnic La Fe and IIS La Fe, Valencia and Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain (E.Z.).

20. Department of Cardiology, ASST Papa Giovanni XXIII, Bergamo, Italy (A.I.).

21. Health in Code, Hospital Marítimo de Oza, As Xubias, A Coruña, Spain (L.M.).

22. Hypertrophic Cardiomyopathy Center, Policlinico di Monza, Italy (P.S.).

23. Molecular Genetics Laboratory, A.O. Papa Giovanni XXIII, Bergamo, Italy (M.I.).

Abstract

Background: 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. Methods: Clinical and genetic data were collected in 16 cardiology centers from 8 European countries. Results: 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±11%) and 59% of women (LV ejection fraction, 28±13%). The risk of arrhythmia and heart failure was comparable among sexes. The age of first heart failure hospitalization was lower in men (18±6 versus 28±17 years; P <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. Conclusions: 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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference30 articles.

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