TY - JOUR
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 -