Work

Case Report: A rare coexistence with severe aortic root dilatation and nutcracker phenomenon in pediatric Marfan syndrome

Year: 2026

Type: article

Abstract: Marfan syndrome (MFS) is a multisystem connective tissue disorder affecting the cardiovascular, ocular, and skeletal systems. We report a case of a 13.5-year-old boy who presented with excessive linear growth. Diagnostic evaluations revealed severe aortic root dilatation, repeatedly positive occult blood in urine, and ultrasonographic findings suggestive of left renal vein entrapment. Genetic testing identified a pathogenic variant in the FBN1 gene. The patient was ultimately diagnosed with Marfan syndrome complicated by left renal vein entrapment syndrome (nutcracker phenomenon). The co-occurrence of severe aortic root dilatation and left renal vein entrapment syndrome in childhood Marfan syndrome is relatively uncommon. This case may provide valuable insights for clinical diagnosis and management.

Source: Frontiers in Pediatrics

DOI: 10.3389/fped.2026.1790656

Authors: Xiaoyu Qiao, Yanyu Chen, Danyan Su, Lifeng Shang, Yusheng Pang

Institutions: Shanghai Children's Medical Center, First Affiliated Hospital of GuangXi Medical University, Guizhou Provincial People's Hospital

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801