Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry

Ángela López-Sainz, Joel Salazar-Mendiguchía, Ana García-Álvarez, Oscar Campuzano Larrea, Miguel Ángel López-Garrido, Luis García-Guereta, María Eugenia Fuentes Cañamero, Vicente Climent Payá, María Luisa Peña-Peña, Esther Zorio-Grima, Paloma Jordá-Burgos, Carles Díez-López, Ramón Brugada, José Manuel García-Pinilla, Pablo García-Pavía

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    2 Citations (Scopus)

    Abstract

    © 2018 Sociedad Española de Cardiología 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. Full English text available from: www.revespcardiol.org/en
    Original languageEnglish
    Pages (from-to)479-486
    JournalRevista Espanola de Cardiologia
    Volume72
    DOIs
    Publication statusPublished - 1 Jun 2019

    Keywords

    • Danon disease
    • Hypertrophic cardiomyopathy
    • Intellectual disability
    • Myopathy
    • Pre-excitation

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