Abstract：
AIMS:To investigate the clinical spectrum, cardiovascular magnetic resonance imaging (cMRI) characteristics, including T1 and extracellular volume fraction, and outcomes of Danon disease to facilitate further understanding of the phenotype of patients with Danon disease. MATERIALS AND METHODS:The study comprised six male patients 8-23 years old recruited to the study between 2014-2019. The clinical presentation, laboratory examinations, pathology/genetic analysis, electrocardiography (ECG), echocardiography, and cCMRI characteristics were summarised. RESULTS:Five out of six patients suffered from hypertrophic cardiomyopathy (HCM) phenotype of Danon disease, while one patient had dilated cardiomyopathy (DCM) phenotype. Left ventricular (LV) and left atrial (LA) function were impaired at strain measurement. Diffuse and focal late gadolinium enhancement (LGE) were observed separately in the LV walls of three patients and right ventricular (RV) insertion points of the remaining three patients. Furthermore, values for the native T1 (mean 1313.3 ms) and extracellular volume fraction (ECV; mean 39.17%) of three patients were increased. CONCLUSIONS:Both dilated and hypertrophic cardiomyopathy may be the phenotypes of Danon disease. Comprehensive cCMRI played a unique role in the diagnosis and grading severity and risk factors of Danon disease in vivo, especially by using robust quantitative strain analysis, T1 mapping, and further ECV calculation.
journal_name
Clin Radioljournal_title
Clinical radiologyauthors
He J,Xu J,Chen L,Ji K,Fan X,Zhao S,Lu Mdoi
10.1016/j.crad.2020.04.012subject
Has Abstractpub_date
2020-09-01 00:00:00pages
712.e1-712.e11issue
9eissn
0009-9260issn
1365-229Xpii
S0009-9260(20)30168-9journal_volume
75pub_type
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