Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study

Cardiac involvement in MELAS syndrome harboring the MTTL1 m.3243A > G mutation mostly entails cardiomyopathy, which was particularly evident in the cardiac MRI. Only one patient (1/11, 9.1%) had conduction defects. Thus, cardiac testing including cardiac MRI, echocardiography and ECG seems to be important for prognosis of MELAS patients.

Authors

Dietrich Stoevesandt
Axel Schlitt (ORCID: https://orcid.org/0000-0002-3956-3519)
Torsten Kraya (ORCID: https://orcid.org/0000-0002-6060-3810)
Philipp Röntgen

Institutions

Klinikum St. Georg (DE)
Paracelsus-Harz-Klinik Bad Suderode (DE)
University Hospital in Halle (DE)
Martin Luther University Halle-Wittenberg (DE)

Publication Details

Journal: Orphanet Journal of Rare Diseases
Published: 2025-02-10
DOI: https://doi.org/10.1186/s13023-025-03534-5
Citations: 4
Primary Topic: Mitochondrial Function and Pathology
Type: article
Field-Weighted Citation Impact: 3.22

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article

Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study

Dietrich Stoevesandt, Axel Schlitt, Torsten Kraya, Philipp Röntgen

Feb 10, 2025

4 citations

Orphanet Journal of Rare Diseases

Mitochondrial Function and Pathology

3.22

article

Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study

Dietrich Stoevesandt, Axel Schlitt, Torsten Kraya, Philipp Röntgen

February 10, 2025article en

4 citations

Abstract

Cardiac involvement in MELAS syndrome harboring the MTTL1 m.3243A > G mutation mostly entails cardiomyopathy, which was particularly evident in the cardiac MRI. Only one patient (1/11, 9.1%) had conduction defects. Thus, cardiac testing including cardiac MRI, echocardiography and ECG seems to be important for prognosis of MELAS patients.

Orphanet Journal of Rare DiseasesVol. 20(1)

Klinikum St. Georg (DE), Paracelsus-Harz-Klinik Bad Suderode (DE), University Hospital in Halle (DE), Martin Luther University Halle-Wittenberg (DE)

Good health and well-being

Openalex Percentile: Top 9%

Mitochondrial Function and Pathology

3.22

DOI Open Access PDF OpenAlex

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