Cargando…

Danon disease: a case report and literature review

BACKGROUND: Danon disease (DD) is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and mental retardation. It is caused by a defect in the lysosomal-associated membrane protein-2 (LAMP2) gene, which leads to the formation of autophagi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xu, Jiamin, Li, Zhu, Liu, Yihai, Zhang, Xinlin, Niu, Fengnan, Zheng, Hongyan, Wang, Lian, Kang, Lina, Wang, Kun, Xu, Biao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8088694/ https://www.ncbi.nlm.nih.gov/pubmed/33933120 http://dx.doi.org/10.1186/s13000-021-01100-8

Ejemplares similares

Danon disease for the cardiologist: case report and review of the literature
por: D’souza, Ryan S., et al.
Publicado: (2017)

Case Report: Danon Disease: Six Family Members and Literature Review
por: Wang, Yuanyuan, et al.
Publicado: (2022)

Percutaneous intravenous catheter forceps biopsy in right atrial mass: two case reports and literature review
por: Chang, Lei, et al.
Publicado: (2022)

Progression of Danon disease with medical imaging: two case reports
por: Wang, Shuai, et al.
Publicado: (2021)

Danon Cardiomyopathy: Specific Imaging Signs
por: Miliou, Antigoni, et al.
Publicado: (2022)

Danon disease: Two patients with atrial fibrillation in a single family and review of the literature
por: Guo, Shaohua, et al.
Publicado: (2019)

A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms
por: Sun, Yu-Qing, et al.
Publicado: (2023)

Cardiovascular magnetic resonance findings in a case of Danon disease
por: Piotrowska-Kownacka, Dorota, et al.
Publicado: (2009)

Autophagy dysregulation in Danon disease
por: Nascimbeni, Anna Chiara, et al.
Publicado: (2017)

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature
por: Shalata, Adel, et al.
Publicado: (2023)

Psychotic symptoms in danon disease: A clinical case report
por: Tuneu, C. Massaneda, et al.
Publicado: (2021)

Circulating exosomal miR-144-3p inhibits the mobilization of endothelial progenitor cells post myocardial infarction via regulating the MMP9 pathway
por: Liu, Yihai, et al.
Publicado: (2020)

Empagliflozin protects against atherosclerosis progression by modulating lipid profiles and sympathetic activity
por: Liu, Yihai, et al.
Publicado: (2021)

Danon disease in a Sardinian family: different aspects of the same mutation—a case report
por: Pasqualucci, Daniele, et al.
Publicado: (2023)

Cone-rod dystrophy can be a manifestation of Danon disease
por: Thiadens, Alberta A. H. J., et al.
Publicado: (2012)

Clinical and molecular characterization of seven patients with Danon disease
por: Wang, Xuan-Ying, et al.
Publicado: (2021)

Dropped Head Syndrome Secondary to Danon Disease: A Case Report
por: Bhat, Vivek, et al.
Publicado: (2023)

Cardioprotective Roles of β-Hydroxybutyrate Against Doxorubicin Induced Cardiotoxicity
por: Liu, Yihai, et al.
Publicado: (2021)

A Nationwide Survey on Danon Disease in Japan
por: Sugie, Kazuma, et al.
Publicado: (2018)

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report
por: Novelli, Valeria, et al.
Publicado: (2020)

Cardiovascular magnetic resonance findings in Danon disease: a case series of a family
por: Liu, Xiaolong, et al.
Publicado: (2023)

Scintigraphy false‐positive results for cardiac amyloidosis in a patient with Danon disease
por: Antukh, Dmitry, et al.
Publicado: (2021)

Three female patients with Danon disease presenting with predominant cardiac phenotype: a case series
por: Mulder, Bart A, et al.
Publicado: (2019)

Cystoid macular edema in a patient with Danon disease
por: Mack, Heather G
Publicado: (2014)

Index of microcirculatory resistance predicts long term cardiac systolic function in patients with STEMI undergoing primary PCI
por: Qi, Yu, et al.
Publicado: (2021)

Lymphoma in Danon disease with chronic rhabdomyolysis treated with EPOCH-R: A case report
por: Porpaczy, Edit, et al.
Publicado: (2016)

Case Report: Identification of Mutations in LAMP2 in Two Chinese Infants With Danon Disease
por: Zhang, Luyan, et al.
Publicado: (2021)

Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease
por: Yang, Jee Myung, et al.
Publicado: (2020)

Human trophoblast-derived exosomes attenuate doxorubicin-induced cardiac injury by regulating miR-200b and downstream Zeb1
por: Ni, Jie, et al.
Publicado: (2020)

A modified extended Morrow procedure to relieve symptoms of the patient with Danon disease: a case report
por: Wu, Dongdong, et al.
Publicado: (2023)

Clinical manifestations and MRI features of Danon disease: a case series
por: Zhang, Yang, et al.
Publicado: (2023)

De novo LAMP2 insertion mutation causes cardiac-only Danon disease: A case report
por: Wang, James Jiqi, et al.
Publicado: (2022)

Characterisation of Lamp2-deficient rats for potential new animal model of Danon disease
por: Ma, Shuoyi, et al.
Publicado: (2018)

Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease
por: Li, Zongzhe, et al.
Publicado: (2021)

Left ventricular assist device implantation in an adult male with Danon disease
por: Kuroda, Kensuke, et al.
Publicado: (2019)

Four-dimensional echocardiography and left ventricular systolic strain measured via two-dimensional speckle-tracking for Danon disease: a case series
por: Changsheng, Ma, et al.
Publicado: (2021)

Detection of intracellular histological abnormalities using cardiac magnetic resonance T1 mapping in patients with Danon disease: a case series
por: Suzuki, Hideaki, et al.
Publicado: (2021)

Empagliflozin Alleviates Atherosclerosis Progression by Inhibiting Inflammation and Sympathetic Activity in a Normoglycemic Mouse Model
por: Liu, Yihai, et al.
Publicado: (2021)

Dilated Cardiomyopathy and Systolic Heart Failure in a Female Patient With Danon Disease
por: Stack-Pyle, Taylor J, et al.
Publicado: (2022)

Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease
por: Wang, Yongxiang, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_0vsjpq2vdu98ddb9e4im54gdpq