Key result
PCI successfully treats cardiogenic shock and early-onset MI in a 13-year-old with homozygous familial hypercholesterolemia.
Case Report (n=1)
This case highlights the critical need for early diagnosis of homozygous familial hypercholesterolemia, intensive lifelong lipid-lowering therapy, and family cascade screening to prevent premature coronary events.
Alerts clinicians to HoFH in pediatric STEMI; extends evidence of premature atherosclerosis in genetic hypercholesterolemia.
BACKGROUND: Homozygous familial hypercholesterolemia is an autosomal codominant genetic disorder leading to highly elevated low-density lipoprotein cholesterol and premature atherosclerosis. CASE SUMMARY: A 13-year-old boy with no comorbidities had acute chest pain and cardiogenic shock. Electrocardiogram documented anterior ST-segment elevation. Echocardiography revealed left ventricular ejection fraction of 35%. Lipid panel showed total cholesterol of 616 mg/dL and low-density lipoprotein cholesterol of 541 mg/dL. Physical examination was performed with widespread xanthomas and corneal arcus. Coronary angiography revealed severe left main and 2-vessel disease. He received successful elective percutaneous coronary intervention of the left main to left anterior descending with TIMI flow grade 3. CONCLUSIONS: This case points out the necessity of early diagnosis of homozygous familial hypercholesterolemia, intensive lifelong lipid-lowering therapy, and family cascade screening for averting premature coronary events.
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Siddiqui et al. (2026) conducted a case report in Homozygous familial hypercholesterolemia and early-onset myocardial infarction (n=1). Percutaneous coronary intervention was evaluated on Successful percutaneous coronary intervention with TIMI flow grade 3. Percutaneous coronary intervention successfully treated a 13-year-old boy presenting with cardiogenic shock and early-onset myocardial infarction due to homozygous familial hypercholesterolemia.
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