Work

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

Year: 2025

Type: article

Abstract: BACKGROUND: Von Hippel-Lindau (VHL) disease is a rare hereditary tumor syndrome with highly variable cardiovascular manifestations. CASE SUMMARY: We report a 57-year-old woman whose VHL diagnosis was triggered by Takotsubo syndrome, revealing an underlying pheochromocytoma. Genetic testing identified a pathogenic VHL mutation, also found in her son, who underwent prophylactic adrenalectomy. DISCUSSION: This case demonstrates how cardiovascular presentations can unmask hereditary tumor syndromes. Cascade genetic screening enabled lifesaving pre-emptive intervention in a family member. TAKE-HOME MESSAGES: Takotsubo syndrome may be the initial manifestation of VHL-associated pheochromocytoma. Systematic genetic evaluation and family screening are crucial in hereditary tumor syndromes.

Source: JACC Case Reports

DOI: 10.1016/j.jaccas.2025.105849

Authors: Elena-Mihaela Cordeanu, Corina Mirea, Michel Vix, Patrick Ohlmann, Dominique Stephan

Institution: Hôpitaux Universitaires de Strasbourg

Language: English

Topic: Adrenal and Paraganglionic Tumors

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $850