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

doi:10.1148/ryct.230014

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 journal › Article › Academic › peer-review

1 Citation (Scopus)

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.

Original language	English
Article number	e230014
Journal	Radiology: Cardiothoracic Imaging
Volume	5
Issue number	2
DOIs	https://doi.org/10.1148/ryct.230014
Publication status	Published - 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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10.1148/ryct.230014

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10141447/pdf/ryct.230014.pdf

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title = "Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI",

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.",

author = "Stephan Schoonvelde and Claudine Ruijmbeek and Judith Verhagen and Hellebrekers, {Debby M.E.I.} and Kofflard, {Marcel J.M.} and Michelle Michels and Alexander Hirsch",

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: {\textcopyright} RSNA, 2023.",

year = "2023",

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day = "13",

doi = "10.1148/ryct.230014",

language = "English",

volume = "5",

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T2 - Distinctive Cardiac Phenotype Detected with Cardiovascular MRI

AU - Schoonvelde, Stephan

AU - Ruijmbeek, Claudine

AU - Verhagen, Judith

AU - Hellebrekers, Debby M.E.I.

AU - Kofflard, Marcel J.M.

AU - Michels, Michelle

AU - Hirsch, Alexander

N1 - 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.

PY - 2023/4/13

Y1 - 2023/4/13

N2 - 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.

AB - 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.

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DO - 10.1148/ryct.230014

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JF - Radiology: Cardiothoracic Imaging

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Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI

Abstract

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