TY - JOUR
T1 - Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry
AU - López-Sainz, Ángela
AU - Salazar-Mendiguchía, Joel
AU - García-Álvarez, Ana
AU - Campuzano Larrea, Oscar
AU - López-Garrido, Miguel Ángel
AU - García-Guereta, Luis
AU - Fuentes Cañamero, María Eugenia
AU - Climent Payá, Vicente
AU - Peña-Peña, María Luisa
AU - Zorio-Grima, Esther
AU - Jordá-Burgos, Paloma
AU - Díez-López, Carles
AU - Brugada, Ramón
AU - García-Pinilla, José Manuel
AU - García-Pavía, Pablo
PY - 2019/6/1
Y1 - 2019/6/1
N2 - © 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
AB - © 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
KW - Danon disease
KW - Hypertrophic cardiomyopathy
KW - Intellectual disability
KW - Myopathy
KW - Pre-excitation
U2 - 10.1016/j.recesp.2018.04.027
DO - 10.1016/j.recesp.2018.04.027
M3 - Article
VL - 72
SP - 479
EP - 486
ER -