Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI

Stephan A.C. Schoonvelde; Claudine W.B. Ruijmbeek; Judith M.A. 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 A.C. Schoonvelde
, Claudine W.B. Ruijmbeek
, Judith M.A. 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

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
Number of pages	4
Journal	Radiology. Cardiothoracic imaging
Volume	5
Issue number	2
DOIs	https://doi.org/10.1148/ryct.230014
Publication status	Published - 1 Apr 2023

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https://www.ncbi.nlm.nih.gov/pmc/articles/10141447Licence: Other

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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 = "Schoonvelde, \{Stephan A.C.\} and Ruijmbeek, \{Claudine W.B.\} and Verhagen, \{Judith M.A.\} 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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doi = "10.1148/ryct.230014",

language = "English",

volume = "5",

journal = "Radiology. Cardiothoracic imaging",

issn = "2638-6135",

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T1 - Mitochondrial Cardiomyopathy

T2 - Distinctive Cardiac Phenotype Detected with Cardiovascular MRI

AU - Schoonvelde, Stephan A.C.

AU - Ruijmbeek, Claudine W.B.

AU - Verhagen, Judith M.A.

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 - 2023/4/1

Y1 - 2023/4/1

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.

U2 - 10.1148/ryct.230014

DO - 10.1148/ryct.230014

M3 - Article

C2 - 37124643

SN - 2638-6135

VL - 5

JO - Radiology. Cardiothoracic imaging

JF - Radiology. Cardiothoracic imaging

IS - 2

M1 - e230014

ER -

Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI

Abstract

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