CASE REPORT article
Front. Pediatr.
Sec. Pediatric Endocrinology
Coronary artery bypass grafting in a 14-year-old with compound heterozygous LDLR familial hypercholesterolemia: a case report
Provisionally accepted
- First Hospital, Peking University, Beijing, China
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Familial hypercholesterolemia (FH), particularly homozygous or compound heterozygous forms, predisposes individuals to premature cardiovascular disease due to severely elevated low-density lipoprotein cholesterol (LDL-C). This case report describes a 14-year-old male with compound heterozygous pathogenic variants in the LDLR gene, diagnosed with FH with a strong family history of hypercholesterolemia. Despite early initiation of statins, the patient developed progressive angina pectoris. Coronary angiography revealed critical stenosis in the left main arteries, necessitating urgent coronary artery bypass grafting (CABG). Arterial vs venous conduit selection in pediatric HoFH warrants explicit rationale. Postoperatively, LDL-C levels remained elevated but were managed with adjunctive therapies, including PCSK9 inhibitor. Genetic testing confirmed compound heterozygosity, underscoring the aggressive nature of LDLR dysfunction. This case highlights the challenges of managing severe FH in pediatric patients, emphasizing the role of early genetic diagnosis, multimodal lipid-lowering therapy, and timely surgical intervention to prevent life-threatening complications. It also reinforces the necessity for lifelong monitoring and novel therapeutic strategies in compound heterozygous FH cases. This report contributes to the limited literature on CABG in pediatric FH, advocating for a multidisciplinary approach to optimize outcomes in this high-risk population.
Keywords: Familial Hypercholesterolemia, LDLR gene, Compound heterozygosity, coronary artery bypass grafting, pediatric cardiovascular disease
Received: 08 May 2025; Accepted: 05 Nov 2025.
Copyright: © 2025 Zhu, Zhang, Wang and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Chunjing Li, gogolion02@bjmu.edu.cn
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