Pulmonary Hypertension with a High-Output Hemodynamic Profile in a Child with MELAS: A Case Report

Area of Science:

• Mitochondrial diseases
• Pediatric cardiology
• Rare diseases

Background:

• Pulmonary hypertension (PH) is rarely documented in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
• The hemodynamic characteristics of PH in MELAS syndrome remain poorly understood.

Purpose of the Study:

• To describe a case of pulmonary hypertension in a child diagnosed with MELAS syndrome.
• To investigate the hemodynamics and potential therapeutic strategies for PH in this specific context.

Main Methods:

• Case report of a 2-year-old Japanese girl.
• Diagnosis of PH during pneumonia treatment.
• Cardiac catheterization to assess hemodynamics.
• Genetic testing for MELAS confirmation (m.3243A>G mutation).

Main Results:

• The patient presented with PH and high cardiac output, confirmed by cardiac catheterization.
• MELAS syndrome was diagnosed due to multiorgan involvement and the m.3243A>G mutation.
• Therapeutic interventions for PH showed partial effectiveness.
• Oxygen supplementation was considered potentially beneficial without exacerbating the high cardiac output.

Conclusions:

• This case highlights the occurrence of PH with high cardiac output in a pediatric MELAS patient.
• Management of PH in MELAS may require tailored approaches, with oxygen therapy showing promise.
• Further research is needed to elucidate the pathophysiology and optimal treatment of PH in MELAS.