Danon disease: Two patients with atrial fibrillation in a single family and review of the literature

Guo,Shaohua; Zhou,Linghuan; Wang,Renping; Lv,Zhixin; Xu,Hongzun; Han,Baoli; Korantzopoulos,Panagiotis; Hu,Fuli; Liu,Tong

doi:10.3892/etm.2019.7777

Danon disease: Two patients with atrial fibrillation in a single family and review of the literature

Authors:
- Shaohua Guo
- Linghuan Zhou
- Renping Wang
- Zhixin Lv
- Hongzun Xu
- Baoli Han
- Panagiotis Korantzopoulos
- Fuli Hu
- Tong Liu
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Affiliations: Tianjin Key Laboratory of Ionic‑Molecular Function of Cardiovascular Disease, Department of Cardiology, Tianjin Institute of Cardiology, The Second Hospital of Tianjin Medical University, Tianjin 300211, P.R. China, Department of Cardiology, Shijiazhuang Great Wall Hospital of Integrated Traditional Chinese and Western Medicine, Shijiazhuang, Hebei 050035, P.R. China, First Department of Cardiology, University of Ioannina, Medical School, Ioannina 45110, Greece
Published online on: July 17, 2019 https://doi.org/10.3892/etm.2019.7777
Pages: 1527-1532
Copyright: © Guo et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The present study reports on a family with two members affected by Danon disease but having different phenotypes. The clinical manifestations of Danon disease include cardiomyopathy, skeletal myopathy and different degrees of intellectual disability that varies greatly among patients. The present case study reports on two siblings, an older sister and a younger brother, with Danon disease from an affected pedigree, presenting with distinctly different phenotypes. The sister was diagnosed with dilated cardiomyopathy at the age of 26 years with an unfavorable outcome, while her younger brother presented with hypertrophic cardiomyopathy in a relatively stable state. The two probands shared the same mutation, c.974delTinsAA in exon 8, in the lysosomal‑associated membrane protein‑2 gene. Of note, the two patients had a pre‑excitation pattern in the electrocardiogram on initial presentation and later developed atrial fibrillation (AF), which markedly aggravated heart failure. To the best of our knowledge, AF has not been widely reported in patients with Danon disease. The development of AF may have a prognostic value under these circumstances.

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