Detection of intracellular histological abnormalities using cardiac magnetic resonance T1 mapping in patients with Danon disease: a case series.
Cardiac magnetic resonance
Case report
Danon disease
Extracellular volume fraction
Late gadolinium enhancement
Native T1
T1 mapping
Journal
European heart journal. Case reports
ISSN: 2514-2119
Titre abrégé: Eur Heart J Case Rep
Pays: England
ID NLM: 101730741
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
20
08
2020
revised:
26
10
2020
accepted:
09
04
2021
entrez:
16
7
2021
pubmed:
17
7
2021
medline:
17
7
2021
Statut:
epublish
Résumé
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. 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. 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.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
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.
Identifiants
pubmed: 34268477
doi: 10.1093/ehjcr/ytab145
pii: ytab145
pmc: PMC8276603
doi:
Types de publication
Case Reports
Langues
eng
Pagination
ytab145Informations de copyright
© The Author(s) 2021. Published by Oxford University Press on behalf of the European Society of Cardiology.
Références
Clin Neuropathol. 2014 Jul-Aug;33(4):284-91
pubmed: 24691104
Eur Heart J Case Rep. 2019 Jul 29;3(3):ytz132
pubmed: 31660500
J Cardiovasc Magn Reson. 2016 Nov 30;18(1):89
pubmed: 27899132
Radiology. 2018 Aug;288(2):398-406
pubmed: 29688154
Curr Cardiol Rep. 2017 Aug;19(8):65
pubmed: 28639223
J Cardiovasc Magn Reson. 2016 Jan 21;18:5
pubmed: 26795569
J Cardiovasc Magn Reson. 2012 Aug 02;14:54
pubmed: 22857649
Acta Neuropathol. 2015 Mar;129(3):391-8
pubmed: 25589223
Circ Heart Fail. 2014 Sep;7(5):843-9
pubmed: 25228319
Circ Genom Precis Med. 2019 Mar;12(3):e002395
pubmed: 30919683
Genet Med. 2011 Jun;13(6):563-8
pubmed: 21415759