Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry
Por:
López-Sainz Á, Salazar-Mendiguchía J, García-Álvarez A, Campuzano Larrea O, López-Garrido MÁ, García-Guereta L, Fuentes Cañamero ME, Climent V, Peña-Peña ML, Zorio-Grima E, Jordá-Burgos P, Díez-López C, Brugada R, García-Pinilla JM and García-Pavía P
Publicada:
1 jun 2019
Ahead of Print:
11 ago 2018
Categoría:
Cardiology and cardiovascular medicine
Resumen:
Introduction and objectives: Danon disease (DD) is caused by mutations in the LAMP2 gene. It is considered a multisystemic disease characterized by hypertrophic cardiomyopathy with pre-excitation and extreme hypertrophy, intellectual disability, myopathy, childhood presentation, and worse prognosis in men. There are scarce data on the clinical characteristics and prognosis of DD.
Methods: We analyzed the clinical records of patients with DD from 10 Spanish hospitals.
Results: Twenty-seven patients were included (mean age, 31 +/- 19 years; 78% women). Male patients showed a high prevalence of extracardiac manifestations: myopathy (80%), learning disorders (83%), and visual alterations (60%), which were uncommon findings in women (5%, 0%, and 27%, respectively). Although hypertrophic cardiomyopathy was the most common form of heart disease (61%), the mean maximum wall thickness was 15 +/- 7 mm and dilated cardiomyopathy was present in 12 patients (10 women). Pre-excitation was found in only 11 patients (49%). Age at presentation was older than 20 years in 16 patients (65%). After a median follow-up of 4 years (interquartile range, 2-9), 4 men (67%) and 9 women (43%) died or required a transplant. Cardiac disease and adverse events occurred later in women (37 +/- 9 vs 23 +/- 16 and 36 +/- 20 vs 20 +/- 11 years, respectively).
Conclusions: The clinical characteristics of DD differ substantially from traditional descriptions: age at presentation of DD is older, the disease is not multisystemic in women, and pre-excitation is infrequent. (C) 2018 Sociedad Espanola de Cardiologia. Published by Elsevier Espana, S.L.U. All rights reserved.
Filiaciones:
López-Sainz Á:
Unidad de Insuficiencia Cardiaca y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda, Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain
Salazar-Mendiguchía J:
Servicio de Cardiología, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain
Departamento de Genética, Universidad Autónoma de Barcelona, Barcelona, Spain
García-Álvarez A:
Servicio de Cardiología, Institut Clínic Cardiovascular, Hospital Clínic, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Barcelona, Spain
Campuzano Larrea O:
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain
Centro Genética Cardiovascular, Institut d'Investigacions Biomèdiques de Girona, Girona, Spain
Departamento Ciencias Médicas, Facultad de Medicina, Universidad de Girona, Girona, Spain
López-Garrido MÁ:
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain
Servicio de Cardiología, Hospital Universitario Virgen de la Victoria, Málaga, Spain
García-Guereta L:
Servicio de Cardiología Pediátrica, Hospital Universitario La Paz, Madrid, Spain
Fuentes Cañamero ME:
Servicio de Cardiología, Hospital Infanta Cristina, Badajoz, Spain
Climent V:
Servicio de Cardiología, Hospital General Universitario de Alicante, Alicante, Spain
Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Alicante, Spain
Peña-Peña ML:
Unidad de Imagen y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Virgen del Rocío, Sevilla, Spain
Zorio-Grima E:
Unidad de Cardiopatías Familiares, Muerte Súbita y Mecanismos de Enfermedad (CaFaMuSMe), Instituto de Investigación Sanitaria La Fe, Valencia, Spain
Servicio de Cardiología, Hospital Universitario y Politécnico La Fe, Valencia, Spain
Jordá-Burgos P:
Servicio de Cardiología, Institut Clínic Cardiovascular, Hospital Clínic, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Barcelona, Spain
Díez-López C:
Servicio de Cardiología, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain
Brugada R:
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain
Centro Genética Cardiovascular, Institut d'Investigacions Biomèdiques de Girona, Girona, Spain
Departamento Ciencias Médicas, Facultad de Medicina, Universidad de Girona, Girona, Spain
Unidad Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain
García-Pinilla JM:
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain
Servicio de Cardiología, Hospital Universitario Virgen de la Victoria, Málaga, Spain
García-Pavía P:
Unidad de Insuficiencia Cardiaca y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda, Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain
Facultad de Ciencias de la Salud, Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcón, Madrid, Spain
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