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Current Cardiovascular Risk Reports

Published in:

10-02-2023 | Diseases of the neuromuscular synapses and muscles

Genetics of Mitochondrial Cardiomyopathy

Authors: Atif Towheed, Amy C. Goldstein

Published in: Current Cardiovascular Risk Reports | Issue 3/2023

Abstract

Purpose of Review

Primary mitochondrial disorders (PMD) are a heterogeneous group of individual genetic multi-systemic diseases that are challenging to diagnose and manage; currently, there is no cure or FDA-approved therapies for these progressive genetic syndromes. Among the many organs that may be affected by mitochondrial disorders, the heart is one of the most common, given its high energy requirements, leading to mitochondrial cardiomyopathies.

Recent Findings

Mitochondrial cardiomyopathies are due to underlying genetic defects in genes involved in mitochondrial functioning. These genes, which can be of nuclear or mitochondrial DNA, are either directly involved in the electron transport chain and oxidative phosphorylation or play a role in other mitochondrial pathways such as mitochondrial DNA (mtDNA) replication or maintenance of the inner mitochondrial membrane. Due to the high degree of variability and complexity, current therapeutic strategies are inadequately effective in treating mitochondrial cardiomyopathies. Further research, including longitudinal prospective natural history studies and large-scale randomized clinical trials, is warranted to determine the most effective therapeutic and pharmacologic strategies to address mitochondrial cardiomyopathies.

Summary

In this review, we present our current understanding of mitochondrial cardiomyopathies, diagnostic tools, and management.

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Title: Genetics of Mitochondrial Cardiomyopathy
Authors: Atif Towheed
Amy C. Goldstein
Publication date: 10-02-2023
Publisher: Springer US
Keywords: Diseases of the neuromuscular synapses and muscles
Cardiomyopathy
Acidosis
Myopathy
Published in: Current Cardiovascular Risk Reports / Issue 3/2023
Print ISSN: 1932-9520
Electronic ISSN: 1932-9563
DOI: https://doi.org/10.1007/s12170-023-00715-4

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Keynote webinar | Spotlight on medication adherence

Springer Medicine

Genetics of Mitochondrial Cardiomyopathy

Abstract

Purpose of Review

Recent Findings

Summary

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose of Review

Recent Findings

Summary

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ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page