Pulmonary hypertension--a new manifestation of mitochondrial disease

Area of Science:

• Pediatric Hepatology
• Mitochondrial Diseases
• Cardiology

Background:

• Mitochondrial respiratory chain (RC) abnormalities are a known cause of multiorgan disease in children, often presenting as liver failure within the first year of life.
• While cardiorespiratory complications are recognized, pulmonary hypertension has not been previously associated with RC defects.

Observation:

• Two pediatric patients with confirmed mitochondrial RC liver disease developed severe pulmonary hypertension.
• One patient developed pulmonary hypertension post-liver transplantation, while the other presented with it in the neonatal period.

Findings:

• This case series suggests a link between mitochondrial RC liver disease and the development of pulmonary hypertension in children.
• Pulmonary hypertension may be an underrecognized manifestation of mitochondrial RC dysfunction.

Implications:

• Pulmonary hypertension should be considered in the differential diagnosis of children with mitochondrial liver disease.
• This finding expands the spectrum of known complications for pediatric mitochondrial disorders, highlighting the need for multidisciplinary care.