Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI

Stephan Schoonvelde, Claudine Ruijmbeek, Judith Verhagen, Debby M.E.I. Hellebrekers, Marcel J.M. Kofflard, Michelle Michels, Alexander Hirsch*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)


Left ventricular hypertrophy (LVH) has a broad differential diagnosis. Pathogenic variants of mitochondrial DNA are a rare cause of LVH, and cardiac MRI is a powerful technique that may aid in differentiating such rare causes. This case report presents three siblings with a pathogenic variant of the mitochondrially encoded tRNA isoleucine (MT-TI) gene. A distinctive cardiac phenotype was detected with cardiac MRI. Extensive LVH and dilatation and decreased ejection fraction were observed with a pattern of increased T2 signal and extensive late gadolinium enhancement, which was remarkably consistent among all three siblings.
Original languageEnglish
Article numbere230014
JournalRadiology: Cardiothoracic Imaging
Issue number2
Publication statusPublished - 13 Apr 2023

Bibliographical note

Funding Information:
Supported in part by the Dutch Cardiovascular Alliance, an initiative with the support of the Dutch Heart Foundation (grant no. 2020B005), as part of the Double Dose project.

Publisher Copyright:
© RSNA, 2023.


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