التفاصيل البيبلوغرافية
| العنوان: |
Clinical Features and Outcomes for Danon Disease: Data from Global Registry. |
| المؤلفون: |
Escobedo, V.S.1 (AUTHOR), Nguyen, N.1 (AUTHOR), Teng, D.2 (AUTHOR), Bui, Q.M.2 (AUTHOR), Ma, G.S.2 (AUTHOR), Brambatti, M.2 (AUTHOR), Covarrubias, E.2 (AUTHOR), Taylor, M.3 (AUTHOR), Adler, E.A.2 (AUTHOR) |
| المصدر: |
Journal of Heart & Lung Transplantation. Apr2019 Supplement, Vol. 38, pS463-S463. 1p. |
| مصطلحات موضوعية: |
*CARDIOMYOPATHIES, *GENETIC disorders, *DISEASES, *NATURAL history |
| مصطلحات جغرافية: |
UNITED States, AUSTRALIA, UNITED Kingdom |
| مستخلص: |
Purpose Danon Disease (DD) is a rare genetic disorder that affects the cardiac, neurologic, and muscular systems in both men and women. Subjects affected typically develop hypertrophic cardiomyopathy (HCM) and end-stage heart failure requiring transplantation. DD is an X-linked disorder with women typically suffering milder disease presentations that develop later in life. Methods A global retrospective registry for DD was created to understand the disease's natural history. Data including the description of clinical features and age of symptom onset was collected from patients across the world (United States, United Kingdom, and Australia). Information was obtained via medical records and questionnaires that were collected from patients and/or their family. Results The registry includes a total of 33 patients with 54.5% being female. The major demographics of patients were Caucasian (96.9%) and from the United States (78.8%). Impartial of the affected organs, males experienced earlier symptoms compared to females (5.5 (2.0-12.0) vs 16.0 (11.5-27.0) years of age, p = 0.002) which resulted in an earlier DD diagnosis in males at (8.0 (4.0-12.0) vs 26.5 (13.0-41.0) years of age, p = 0.023). The frequency of HCM was higher in males as compared to females, (93.3% vs 44.4%) while females had a higher frequency of tachyarrhythmias compared to males (61.1% vs 13.3%). Dilated cardiomyopathy (DCM) was absent in males, however was the first symptom of cardiac disease in two female patients (11.1%). Four males (26.7%) and seven females (38.8%) underwent heart transplantation. Death occurred in one (5.6%) female due to post-transplant complications. Neurological symptoms, primarily manifesting as cognitive impairment were documented in 86.7% of males and 61.1% of females and had a similar age of onset (5.0 (4.0-10.0) vs 8.0 (7.0-15.0) years of age, p = 1). 87.9% of subjects presented with symptomatic skeletal myopathy which was more frequent in males (86.7% vs 64.3%). Conclusion Although DD is an X-linked disorder, significant cardiac morbidity develops in women. Females have a higher prevalence of DCM, which may be secondary to delayed symptom presentation and diagnosis. While DD is a rare diagnosis, healthcare providers should be aware that later clinical manifestations occur in women and should be considered in the differential diagnosis of heart failure. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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