Multisystemic Presentation of Von Hippel–Lindau Disease Revealed by Pheochromocytoma and Takotsubo Syndrome

Figures

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  Figure 1. Multimodal Imaging Findings Revealing VHL-Associated Pheochromocytoma (A to D) Contrast-enhanced CT imaging (axial, coronal, sagittal, 3D volume rendering) demonstrating a large heterogeneous left adrenal mass (red circles) measuring 6 × 6 × 6 cm, with characteristic features of pheochromocytoma. (E and F) 18F-DOPA PET-CT fusion images (axial, coronal, sagittal) showing intense uptake in the left adrenal mass, confirming catecholamine-secreting tumor activity with no evidence of metastatic disease. 3D = 3-dimensional; 18F-DOPA = 18F-dihydroxyphenylalanine; CT = computed tomography; PET = positron emission tomography; VHL = von Hippel–Lindau.

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  Figure 2. Family Pedigree and Genetic Cascade Screening Results for Von Hippel–Lindau Disease Three-generation pedigree showing the inheritance pattern of VHL disease. Squares = males; circles = females; filled symbols = VHL-positive with pheochromocytoma; pink shading = probable de novo mutation. The proband (II-2, age 57) carries a pathogenic VHL mutation (c.340C>T) with multisystemic manifestations including pheochromocytoma and Takotsubo syndrome. Given the absence of VHL-related disease in previous generations, this likely represents a de novo mutation. Cascade genetic screening identified the mutation in her elder son (III-1, age 26), who underwent prophylactic adrenalectomy in 2024, while her younger son (III-2, age 25) tested negative. This case demonstrates the lifesaving potential of genetic cascade screening in hereditary tumor syndromes, enabling pre-emptive intervention before symptom development. HTN = hypertension; MI = myocardial infarction; VHL = von Hippel–Lindau.