Retrospective analysis highlights cardiovascular complications in children with methylmalonic acidemia and homocysteinemia, suggesting vigilance in diagnosis.
Key Points
Cardiovascular manifestations are critical and can lead to death, affecting children with methylmalonic acidemia and homocysteinemia.
Of 16 analyzed patients, 9 presented pulmonary hypertension, demonstrating significant cardiac risks associated with the condition.
A genetic connection is evident, as 14 cases confirmed CblC-type methylmalonic acidemia due to MMACHC gene mutations, suggesting targeted testing can aid diagnosis.
Knowledge about cardiovascular complications can guide early detection and treatment in patients showing atypical symptoms of these metabolic disorders.