ArticleMolecular genetics & genomic medicine2019
Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.International journal of molecular sciences · 2023Review
- Danon Disease: EntireGenes · 2023Review
- Cardiovascular magnetic resonance findings in Danon disease: a case series of a family.Frontiers in cardiovascular medicine · 2023Article
- Sex-Related Differences in Genetic Cardiomyopathies.Journal of the American Heart Association · 2022Review
- Case Report: Danon Disease: Six Family Members and Literature Review.Frontiers in cardiovascular medicine · 2022Article
- Editorial: Epigenetic and transcriptional networks underlying ventricular and atrial arrhythmias.Frontiers in cardiovascular medicine · 2022Article
- Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series.ESC heart failure · 2021Article
- Clinical and molecular characterization of seven patients with Danon disease.Experimental and therapeutic medicine · 2021Article
- Case Report: A NovelFrontiers in cardiovascular medicine · 2021Article
- Article
- Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.ESC heart failure · 2020Article
- Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundCardiac involvement in Danon disease typically manifests as left ventricular hypertrophy (LVH) and ventricular preexcitation. This study aimed to identify patients with Danon disease among patients with LVH and concurrent electrocardiographic preexcitation.
methodsElectrocardiographic preexcitation was identified in 10 of 197 patients with unexplained LVH in whom genetic testing was performed using next-generation sequencing.
resultsThree (3/10, 30%) patients with Danon disease were found in association with different mutations in the gene of lysosome-associated membrane protein 2 (LAMP2). Compared to seven patients without Danon disease, these three patients presented with distinctive clinical phenotypes, including onset at an earlier age (20 ± 2 years vs. 53 ± 9 years, p < 0.001), more neurological involvements (100% vs. 0, p = 0.008), higher electrocardiographic voltages (10 ± 1 mV vs. 5 ± 1 mV, p < 0.001), wider QRS complexes (163 ± 5 ms vs. 115 ± 20 ms, p = 0.006), less common asymmetric hypertrophy (0% vs. 86%, p = 0.033), and more frequent elevation of three serum enzymes (creatine kinase, aspartate aminotransferase, and lactate dehydrogenase). Intracellular vacuoles accumulation with deficiencies of LAMP2 protein was found in both cardiac and skeletal myocytes of patients with Danon disease.
conclusionIn patients with coexistent LVH and ventricular preexcitation, Danon disease is common with distinctive clinical presentations. Comprehensive assessment of these resemble patients can provide valuable findings for early identification and clinical decision making of patients with Danon disease.
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