Mitochondrial cardiomyopathies: navigating through different clinical and management pictures between adult and paediatric forms.
Level 5 - mechanism / opinion, no new human data
Narrative review without systematic methodology
PubMed 40678571 · doi:10.3389/fcvm.2025.1621096
What was done
This is a narrative review synthesizing literature on cardiac involvement across the spectrum of mitochondrial diseases. The authors describe clinical presentations, differences between pediatric and adult manifestations, and diagnostic and management considerations based on age of onset.
What was found
The abstract reports summary epidemiological ranges from prior literature: mitochondrial diseases have an estimated prevalence of 5–12 per 100,000 individuals (1:5,000 at birth; 5–15 per 10,000 childhood-onset). Cardiac involvement is estimated to occur in 20%–40% of pediatric cases, manifesting as cardiomyopathy, conduction system disturbances, aortopathy, and pulmonary hypertension. No novel empirical data or comparative statistics are reported in the abstract.
Why it matters
Cardiac manifestations substantially contribute to mortality in mitochondrial diseases. Delineating pediatric and adult presentation patterns aids cardiologists in identifying underlying metabolic disorders when evaluating unexplained cardiac phenotypes.
Limits
This is a non-systematic narrative review providing broad background ranges rather than primary data. The abstract does not specify literature search methods, study quality evaluation, or quantitative synthesis.
Cited by
- supports Children with severe mitochondrial diseases frequently do not survive past age 25, with heart failure being a typical cause of death.