Response to: Mitochondrial Cardiomyopathy Due to the MT-TI Variant m.4300A>G Requires Comprehensive Clinical and Genetic Workup

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

doi:10.1148/ryct.230144

Response to: Mitochondrial Cardiomyopathy Due to the MT-TI Variant m.4300A>G Requires Comprehensive Clinical and Genetic Workup

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 › Comment/Letter to the editor › Academic › peer-review

1 Citation (Scopus)

Abstract

We appreciate the interest in our article describing three siblings with a rare nonsyndromic form of mitochondrial cardiomyopathy. Indeed, MIDs are commonly associated with multisystem involvement. However, none of the siblings had any other phenotypical features of MID.
Following the identification of the MT-TI m.4300A>G variant, all siblings were seen by a specialized cardiologist and clinical geneticist, and sibling 1 and 2 underwent detailed evaluation for systemic features by a specialized team in MID. Besides the rheumatoid arthritis in sibling 2), no extracardiac features were noted.
[...]
Ultimately, we concur with the author regarding the necessity of a multisystem evaluation in MID. Nonetheless, we emphasize the existence and the pathophysiology associated with the cardiac specificity from MT-TI variants.

Original language	English
Pages (from-to)	1-2
Number of pages	2
Journal	Radiology: Cardiothoracic Imaging
Volume	5
Issue number	4
Early online date	17 Aug 2022
DOIs	https://doi.org/10.1148/ryct.230144
Publication status	Published - 2023

Bibliographical note

Response to Josef Finsterer MD, PhD (Neurology and Neurophysiology Center, Vienna)

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10.1148/ryct.230144

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485717/pdf/ryct.230144.pdf

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title = "Response to: Mitochondrial Cardiomyopathy Due to the MT-TI Variant m.4300A>G Requires Comprehensive Clinical and Genetic Workup",

abstract = "We appreciate the interest in our article describing three siblings with a rare nonsyndromic form of mitochondrial cardiomyopathy. Indeed, MIDs are commonly associated with multisystem involvement. However, none of the siblings had any other phenotypical features of MID. Following the identification of the MT-TI m.4300A>G variant, all siblings were seen by a specialized cardiologist and clinical geneticist, and sibling 1 and 2 underwent detailed evaluation for systemic features by a specialized team in MID. Besides the rheumatoid arthritis in sibling 2), no extracardiac features were noted. [...]Ultimately, we concur with the author regarding the necessity of a multisystem evaluation in MID. Nonetheless, we emphasize the existence and the pathophysiology associated with the cardiac specificity from MT-TI variants.",

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 = "Response to Josef Finsterer MD, PhD (Neurology and Neurophysiology Center, Vienna)",

year = "2023",

doi = "10.1148/ryct.230144",

language = "English",

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journal = "Radiology: Cardiothoracic Imaging",

issn = "2638-6135",

publisher = "Radiological Society of North America Inc.",

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T1 - Response to: Mitochondrial Cardiomyopathy Due to the MT-TI Variant m.4300A>G Requires Comprehensive Clinical and Genetic Workup

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 - Response to Josef Finsterer MD, PhD (Neurology and Neurophysiology Center, Vienna)

PY - 2023

Y1 - 2023

N2 - We appreciate the interest in our article describing three siblings with a rare nonsyndromic form of mitochondrial cardiomyopathy. Indeed, MIDs are commonly associated with multisystem involvement. However, none of the siblings had any other phenotypical features of MID. Following the identification of the MT-TI m.4300A>G variant, all siblings were seen by a specialized cardiologist and clinical geneticist, and sibling 1 and 2 underwent detailed evaluation for systemic features by a specialized team in MID. Besides the rheumatoid arthritis in sibling 2), no extracardiac features were noted. [...]Ultimately, we concur with the author regarding the necessity of a multisystem evaluation in MID. Nonetheless, we emphasize the existence and the pathophysiology associated with the cardiac specificity from MT-TI variants.

AB - We appreciate the interest in our article describing three siblings with a rare nonsyndromic form of mitochondrial cardiomyopathy. Indeed, MIDs are commonly associated with multisystem involvement. However, none of the siblings had any other phenotypical features of MID. Following the identification of the MT-TI m.4300A>G variant, all siblings were seen by a specialized cardiologist and clinical geneticist, and sibling 1 and 2 underwent detailed evaluation for systemic features by a specialized team in MID. Besides the rheumatoid arthritis in sibling 2), no extracardiac features were noted. [...]Ultimately, we concur with the author regarding the necessity of a multisystem evaluation in MID. Nonetheless, we emphasize the existence and the pathophysiology associated with the cardiac specificity from MT-TI variants.

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U2 - 10.1148/ryct.230144

DO - 10.1148/ryct.230144

M3 - Comment/Letter to the editor

C2 - 37693190

SN - 2638-6135

VL - 5

SP - 1

EP - 2

JO - Radiology: Cardiothoracic Imaging

JF - Radiology: Cardiothoracic Imaging

IS - 4

ER -

Response to: Mitochondrial Cardiomyopathy Due to the MT-TI Variant m.4300A>G Requires Comprehensive Clinical and Genetic Workup

Abstract

Bibliographical note

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Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI

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