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Cardiac Phenotype Characterization at MRI in Patients with Danon Disease: A Retrospective Multicenter Case Series

Xiaoyu Wei1, Lei Zhao1, Jiajun Xie1

  • 1From the Department of Radiology (X.W., X.Z., W.Y., H.L.) and Guangdong Cardiovascular Institute (Y.L.), Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, 106 Zhong Shan Er Lu, Guangzhou, Guangdong Province 510080, China; School of Medicine, South China University of Technology, Guangzhou, China (X.W., H.L.); Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Road, Chaoyang District, Beijing, China (L.Z.); Department of Radiology, Guangzhou First People's Hospital, School of Medicine, South China University of Technology, Guangzhou, China (J.X.); Department of Medical Statistics, School of Public Health, Sun Yat-sen University, Guangzhou, China (Z.D.); Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China (Y.W.); Department of Cardiology, West China Hospital, Sichuan University, Chengdu, China (Y.C.); Department of Magnetic Resonance Imaging, Fuwai Hospital and National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (M.L.); The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China (H.L.).

Radiology
|March 23, 2021
PubMed

Insights

Cardiac MRI reveals characteristic features of Danon disease (DD), a rare genetic disorder. This study highlights hypertrophy and specific late gadolinium enhancement patterns, aiding in DD diagnosis.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Danon disease (DD) is a rare X-linked dominant lysosomal glycogen storage disorder.
  • Cardiac manifestations of DD are not widely reported using cardiac MRI.

Purpose of the Study:

  • To evaluate the cardiac features of Danon disease using cardiac MRI observations.
  • To characterize the spectrum of cardiac phenotypes and MRI findings in a cohort of DD patients.

Main Methods:

  • A multi-center case series involving 16 patients diagnosed with Danon disease.
  • Cardiac MRI examinations were performed between January 2010 and May 2019.
  • Analysis included assessment of cardiac morphology, function, T2 signal, perfusion, and late gadolinium enhancement (LGE).

Main Results:

  • The most common phenotype was symmetric hypertrophic cardiomyopathy (56%), followed by asymmetric HCM (38%).
  • Characteristic LGE patterns included midbasal septum sparing (88%), apex involvement (100%), free wall involvement (94%), and extensive subendocardial enhancement (88%).
  • Abnormal T2 signal (44%) and resting perfusion defects (88%) were frequently observed.

Conclusions:

  • Cardiac MRI provides valuable insights into the cardiac manifestations of Danon disease.
  • Specific LGE patterns, particularly apex involvement and midbasal septum sparing, are highly suggestive of DD.
  • MRI findings aid in differentiating DD from other cardiomyopathies like sarcomeric HCM.

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