A 12-year-old boy with chest pain and dyspnoea

Navarro, Libertad Latorre; Silva, Luis García-Guereta; Bravo-Burguillos, Elena Ruiz

doi:10.1136/heartjnl-2016-309394

Cited by 1 publication

(1 citation statement)

References 5 publications

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“…Although DD cardiomyopathy is a profound disease process characterized by rapid clinical deterioration leading to cardiac death in young patients <25 years, it is not suitable to ignore damage to other systems. Except for the classical traits of cardiomyopathy, skeletal myopathy and intellectual disability, DD patients may also suffer from other less prevalent symptoms, such as retinal disease (69% of males) 15 – 19 , hepatic disease 19 – 21 , respiratory disease (13/26, 50%), or gastrointestinal disease (20/26, 77%) 11 . Due to early death, birth and perinatal documents of DD patients are usually difficult to obtain.…”

Section: Discussionmentioning

confidence: 99%

Characterisation of Lamp2-deficient rats for potential new animal model of Danon disease

Zhang

et al. 2018

Sci Rep

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Danon disease (DD) is caused by the absence or malfunction of lysosomal-associated membrane protein 2 (LAMP2). Although Lamp2-deficient mice and DD patients have similar characteristics, these mice have clear limitations and are clinically inconsistent. The aim of our paper is to outline the characteristics of Lamp2-deficient rats and to contrast this model with currently available DD mouse models. The baseline levels of some serum enzymes were elevated in Lamp2y/− rats along with hypercholesterolemia and hyperglycaemia at 8 weeks. Echocardiography showed that IVSd (1.500 ± 0.071 vs. 2.200 ± 1.147, P < 0.01) and LVPWd (1.575 ± 0.063 vs. 1.850 ± 0.029, P < 0.01) were significantly increased, and GCS (−13.20 ± 0.4814 vs. −6.954 ± 0.665) and GRS (21.42 ± 1.807 vs. 7.788 ± 1.140) were sharply decreased. Meanwhile, substantial myocyte disruption, hypertrophic muscle fibres, interstitial fibrosis and microvascular hyperplasia could be observed in the heart tissue. Lamp2y/− rats also displayed abnormal behaviours in the open field and fear conditioning tests. Notably, Lamp2y/− rats manifested other system dysfunctions, such as retinopathy, chronic kidney injury and sterility. Based on these results, Lamp2-deficient rats exhibited greater similarity to DD patients in terms of onset and multisystem lesions than did mouse models, and these rats could be used as a valuable animal model for DD.

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