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Case Reports
. 2023 Apr 13;5(2):e230014.
doi: 10.1148/ryct.230014. eCollection 2023 Apr.

Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI

Stephan A C Schoonvelde  1 , Claudine W B Ruijmbeek  1 , Judith M A Verhagen  1 , Debby M E I Hellebrekers  1 , Marcel J M Kofflard  1 , Michelle Michels  1 , Alexander Hirsch  1
Affiliations
Case Reports

Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI

Stephan A C Schoonvelde et al. Radiol Cardiothorac Imaging. .

Abstract

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. Keywords: Cardiomyopathies, MR Imaging, Hypertrophic Cardiomyopathy, Mitochondrial, Inherited Cardiomyopathy, Left Ventricular Hypertrophy, Cardiovascular MRI, Late Gadolinium Enhancement Supplemental material is available for this article. © RSNA, 2023.

Keywords: Cardiomyopathies; Cardiovascular MRI; Hypertrophic Cardiomyopathy; Inherited Cardiomyopathy; Late Gadolinium Enhancement; Left Ventricular Hypertrophy; MR Imaging; Mitochondrial.

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Conflict of interest statement

Disclosures of conflicts of interest: S.A.C.S. No relevant relationships. C.W.B.R. No relevant relationships. J.M.A.V. No relevant relationships. D.M.E.I.H. No relevant relationships. M.J.M.K. No relevant relationships. M.M. No relevant relationships. A.H. No relevant relationships.

Figures

Images from cardiac MRI in the three siblings (S1, S2, and S3). (A, C) End-diastolic steady-state free precession cine images in the (A) four-chamber and (C) midventricular short-axis views. (B, D) Corresponding late gadolinium enhancement (LGE) images (white arrows highlight the LGE). All three siblings show concentric remodeling with a distinctive pattern of patchy LGE in almost all segments of the left ventricle. (E) T2-weighted turbo spin-echo image for S1 and T2 maps for S2 and S3. These images show an increased T2 signal within the myocardium, corresponding with areas of LGE (white arrows).
Figure 1:
Images from cardiac MRI in the three siblings (S1, S2, and S3). (A, C) End-diastolic steady-state free precession cine images in the (A) four-chamber and (C) midventricular short-axis views. (B, D) Corresponding late gadolinium enhancement (LGE) images (white arrows highlight the LGE). All three siblings show concentric remodeling with a distinctive pattern of patchy LGE in almost all segments of the left ventricle. (E) T2-weighted turbo spin-echo image for S1 and T2 maps for S2 and S3. These images show an increased T2 signal within the myocardium, corresponding with areas of LGE (white arrows).
Phenotypic evolution in sibling 1. Images from follow-up cardiac MRI in sibling 1 show the evolution of late gadolinium enhancement (LGE) and T2 signal. Images B and D were acquired 9 years after images A and C. (A, B) Short-axis LGE images. (C, D) T2-weighted turbo spin-echo images in the same orientation. White stars indicate LGE in A and B and T2 signal in C and D; note the evident increase of LGE and T2 signal in B and D, respectively.
Figure 2:
Phenotypic evolution in sibling 1. Images from follow-up cardiac MRI in sibling 1 show the evolution of late gadolinium enhancement (LGE) and T2 signal. Images B and D were acquired 9 years after images A and C. (A, B) Short-axis LGE images. (C, D) T2-weighted turbo spin-echo images in the same orientation. White stars indicate LGE in A and B and T2 signal in C and D; note the evident increase of LGE and T2 signal in B and D, respectively.
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