Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders.
Level 3 - non-randomized controlled study
Cohort follow-up study comparing clinical outcomes in patients with versus without cardiovascular involvement.
PubMed 32736646 · doi:10.1186/s13023-020-01466-w
What was done
A cohort study evaluated 86 pediatric patients (30 males, 56 females; mean age 6.4 ± 8.58 years) diagnosed with primary mitochondrial disorders (PMD) over two decades at a single tertiary referral center. Investigators evaluated the prevalence, clinical characteristics, and long-term prognostic impact of cardiovascular involvement (CVI) over a mean follow-up period of 5.4 ± 4.3 years.
What was found
CVI was detected in 31 patients (36%), with a mean onset age of 5.7 ± 7.8 years (including 14 in the pre- or neonatal phase, representing the first sign of PMD in 42% of those with CVI). Prevalent conditions were hypertrophic, non-compaction, and dilated cardiomyopathies, along with pulmonary arterial hypertension, and were more frequent in males and patients with Barth, TMEM70, or MELAS syndromes. Adverse cardiac events occurred in 19% of children with CVI. All-cause mortality was significantly higher in patients with CVI compared to those without CVI (45.1% vs 21.8%; p < 0.01). Female sex, age of onset < 5 years, acute heart failure at presentation, and diabetes were independent predictors of outcome.
Why it matters
Cardiac manifestations affect over one-third of pediatric mitochondrial disease patients, frequently represent the initial clinical presentation, and significantly worsen survival, underscoring the need for early cardiac surveillance and targeted management.
Limits
The study is limited by a small sample size (86 patients, 31 with CVI) from a single tertiary referral center, introducing potential referral bias. Specific effect sizes, hazard ratios, and confidence intervals for independent predictors were not reported in the abstract.
Cited by
- supports Children with severe mitochondrial diseases frequently do not survive past age 25, with heart failure being a typical cause of death.