ArticleExperimental and therapeutic medicine2019
Danon disease: Two patients with atrial fibrillation in a single family and review of the literature.
Article in Experimental and therapeutic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Clinical manifestations and MRI features of Danon disease: a case series.BMC cardiovascular disorders · 2023Article
- The Biology of Lysosomes: From Order to Disorder.Biomedicines · 2023Review
- A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.Pharmacogenomics and personalized medicine · 2023Article
- Case Report: Danon Disease: Six Family Members and Literature Review.Frontiers in cardiovascular medicine · 2022Article
- Four-dimensional echocardiography and left ventricular systolic strain measured via two-dimensional speckle-tracking for Danon disease: a case series.European heart journal. Case reports · 2021Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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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