Coronary revascularization in a child with homozygous familial hypercholesterolemia

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Familial hypercholesterolemia (FH) is an inherited disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol.
• Genetic mutations, often in the LDL receptor gene, lead to impaired cholesterol metabolism and early cardiovascular disease.
• Homozygous FH (HFH) is a rare, severe form requiring aggressive management from a young age.

Observation:

• A pediatric patient with homozygous FH presented with symptoms of dyspnea and chest pain.
• Cardiac evaluation revealed significant coronary artery stenosis, a serious manifestation of uncontrolled hyperlipidemia.
• The patient underwent coronary artery bypass graft (CABG) surgery at 13 years of age.

Findings:

• This case represents one of the youngest individuals reported in the literature to undergo coronary revascularization.
• Early-onset severe coronary artery disease in homozygous FH necessitates timely and aggressive intervention.
• Successful surgical management, including CABG, can be performed in childhood for FH-related cardiac complications.

Implications:

• This case underscores the critical need for early diagnosis and intervention in homozygous FH patients.
• Aggressive lipid-lowering therapies and surgical options should be considered in pediatric patients with severe FH.
• Further research into long-term outcomes of early revascularization in pediatric FH is warranted.