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. Conclusions: Danon disease presents earlier in men than in women and runs a malignant course in both sexes, due to cardiac complications.
Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry / Lotan D., Salazar-Mendiguchia 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., Zorio E., Iacovoni A., Monserrat L., Spirito P., Iascone M., et al.. - In: CIRCULATION. - ISSN 2574-8300. - ELETTRONICO. - 13:(2020), pp. E003117-670. [10.1161/CIRCGEN.120.003117]
Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry
Olivotto I.;Limongelli G.;Iacovoni A.;
2020
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. Conclusions: Danon disease presents earlier in men than in women and runs a malignant course in both sexes, due to cardiac complications.
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