Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry.

Fecha de publicación: 01/12/2020 Fecha Ahead of Print: 05/11/2020

Autores de IIS La Fe

Esther Zorio Grima

Autor

Participantes ajenos a IIS La Fe

Lotan D
Salazar-Mendiguchía J
Mogensen J
Rathore F
Anastasakis A
Kaski J
Garcia-Pavia P
Olivotto I
Charron P
Biagini E
Baban A
Limongelli G
Ashram W
Wasserstrum Y
Galvin J
Iacovoni A
Monserrat L
Spirito P
Iascone M
Arad M

Grupos

Cardiopatías familiares, muerte súbita y mecanismos de enfermedad (CAFAMUSME)

Investigador Principal

Aitana Braza Boils

Abstract

Background - The X-linked Danon disease (DD) 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 (DD) 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 yr. in males and 2-65 in females. Cardiac involvement was observed in 96%. Extracardiac manifestations were prominent in males but not in females. Left ventricular (LV) hypertrophy was reported in 73% of male and 74% of female patients. LV systolic dysfunction was reported in 40% of males (who had LVEF 34±11%) and 59% of females (LVEF 28±13%). The risk of arrhythmia and heart failure (HF) were comparable among genders. The age of first HF hospitalization was lower in males (18 ± 6 vs. 28 ±17 yr., p<0.003). HF was the leading cause of death (10/17, 59%), and LV systolic dysfunction predicted an adverse outcome. Eight males and 8 females (28%) underwent heart transplantation or received a left ventricular assist device (LVAD). Our cohort suggests better prognosis of female compared to male heart transplant recipients. Conclusions - DD presents earlier in males than females and runs a malignant course in both genders, due to cardiac complications. Cardiomyopathy features: heart failure and arrhythmia, are similar among the genders. Clinical diagnosis and management is extremely challenging in females due to phenotypic diversity and absence of extracardiac manifestations.

Datos de la publicación

ISSN/ISSNe:: 2574-8300, 2574-8300
Tipo:: Article
Páginas:: 660-670
DOI:: 10.1161/CIRCGEN.120.003117
Factor de Impacto:: 2,801 SCImago ℠
Cuartil:: Q1 SCImago ℠

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Métricas

Filiaciones

Lotan D:: Leviev Heart Center, Sheba Medical Center & Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
Salazar-Mendiguchía J:: Cardiomyopathy Unit, Hospital Universitari de Bellvitge, Barcelona & Health in Code, Spain
Mogensen J:: Department of Cardiology, Odense University Hospital, Denmark
Rathore F:: Department of Cardiology & University College Dublin School of Medicine, Mater Misericordiae University Hospital, Dublin, Ireland
Anastasakis A:: Unit of Inherited Diseases, Onassis Cardiac Surgery Center, Athens, Greece
Olivotto I:: Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy
Biagini E:: Cardio-Thoracic-Vascular Department, S.Orsola Hospital, University of Bologna, Bologna, Italy
Ashram W:: Department of Cardiology & University College Dublin School of Medicine, Mater Misericordiae University Hospital, Dublin, Ireland
Wasserstrum Y:: Leviev Heart Center, Sheba Medical Center & Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
Galvin J:: Department of Cardiology & University College Dublin School of Medicine, Mater Misericordiae University Hospital, Dublin, Ireland
Zorio E:: Instituto de Investigación. Inherited Heart Diseases Unit and CaFaMuSMe Research Group, Hospital Universitari i Politècnic La Fe and IIS La Fe, Valencia & Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain
Iacovoni A:: Department of Cardiology ASST Papa Giovanni XXIII Bergamo, Italy
Monserrat L:: Health in Code, Hospital Marítimo de Oza, As Xubias, A Coruña, Spain
Spirito P:: Hypertrophic Cardiomyopathy Center, Policlinico di Monza, Monza, Italy
Iascone M:: Molecular Genetics Laboratory, A.O. Papa Giovanni XXIII, Bergamo, Italy
Arad M:: Leviev Heart Center, Sheba Medical Center & Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

Keywords

cardiomyopathies; heart failure; hypertrophy; metabolic; sex characteristics

Proyectos asociados

RED INVESTIGACION (RECAVA)

RD06/0014/0004 . INSTITUTO DE SALUD CARLOS III; FUNDACION PARA LA INV BIOMEDICA- HOSPITAL GREGORIO MARAÑON; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2006