Detection of intracellular histological abnormalities using cardiac magnetic resonance T1 mapping in patients with Danon disease: a case series

Author:

Suzuki Hideaki123ORCID,Morita Yoshiaki45,Saito Ryoko6ORCID,Tatebe Shunsuke1,Niihori Tetsuya7,Saiki Yoshikatsu8,Yasuda Satoshi15ORCID,Shimokawa Hiroaki19ORCID

Affiliation:

1. Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan

2. Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai 980-8573, Japan

3. Division of Brain Sciences, Department of Medicine, Hammersmith Campus, Imperial College London, Du Cane Raod, London W12 0NN, UK

4. Department of Diagnostic Radiology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan

5. National Cerebral and Cardiovascular Center, Suita, Japan

6. Department of Anatomic Pathology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan

7. Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan

8. Division of Cardiovascular Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan

9. Graduate School of Medicine, International University of Health and Welfare, Kozunomori 4-3, Narita 286-8686, Japan

Abstract

Abstract Background Danon disease is an X-linked dominant disorder with defects in the lysosome-associated membrane protein 2 (LAMP2) gene and is characterized histologically by intracellular autophagic vacuoles in skeletal and cardiac muscles. Cardiac magnetic resonance (CMR) T1 mapping potentially allows to differentiate intracellular and extracellular cardiac abnormalities with a combination of native T1 value and extracellular volume (ECV) fraction. Case summary We assessed CMR T1 mapping in two Danon disease patients (a 22-year-old man and his 48-year-old mother), who had a LAMP2 c.864G>A p. Val288Val mutation, and two blood relatives without Danon disease (his 47-year-old maternal aunt and 49-year-old father). The male patient underwent a left ventricular (LV) assist device implantation at 15 months after the image acquisition because he was inotrope dependent (INTERMACS profile 3) and had no noticeable psychological or musculoskeletal symptoms. His mother was in New York Heart Association Class II with mildly reduced LV ejection fraction (46%). The Danon group showed late gadolinium enhancement (LGE) in the anterior and posterolateral LV walls. In the interventricular wall, where evident LGE was not noted, the Danon group had high native T1 value, compared with the T1 value in the non-Danon group, and normal ECV fraction. Cardiac biopsy from the interventricular wall showed intracytoplasmic autophagic vacuoles, which are characteristics of Danon disease. Discussion This characteristic pattern of high native T1 and normal ECV fraction in the areas without LGE, which may reflect the existence of intracytoplasmic autophagic vacuoles, may support the differential diagnosis of Danon disease from other cardiomyopathies.

Funder

Grants-in-Aid program from the Japan Society for the Promotion of Science

Publisher

Oxford University Press (OUP)

Subject

Cardiology and Cardiovascular Medicine

Reference11 articles.

1. Danon disease: a phenotypic expression of LAMP-2 deficiency;Endo;Acta Neuropathol,2015

2. Danon disease: clinical features, evaluation, and management;D'souza;Circ Heart Fail,2014

3. Natural history of Danon disease;Boucek;Genet Med,2011

4. Increased myocardial native T1 and extracellular volume in patients with Duchenne muscular dystrophy;Soslow;J Cardiovasc Magn Reson,2016

5. Cardiac T1 mapping and extracellular volume (ECV) in clinical practice: a comprehensive review;Haaf;J Cardiovasc Magn Reson,2016

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