ArticleMedical principles and practice : international journal of the Kuwait University, Health Science Centre2016
Cardiac Involvement in Von Hippel-Lindau Disease.
Article in Medical principles and practice : international journal of the Kuwait University, Health Science Centre, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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3 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.
- Tumor Necrosis is Associated with an Increased Metastatic and Cardiovascular Risk in Paragangliomas: A Single-Center Series and Meta-Analysis Comparing Necrosis and Cystic Degeneration in Paragangliomas.Endocrine pathology · 2026Pooled it
- Von Hippel-Lindau syndrome with a rare complication of dilated cardiomyopathy: a case report.BMC cardiovascular disorders · 2022Article
- Clinical, surgical, pathological and follow-up features of kidney cancer patients with Von Hippel-Lindau syndrome: novel insights from a large consortium.World journal of urology · 2021Article
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Authors and funding
3 authors at 2 institutions in 1 country.
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Abstract
objectiveThe aim of this case report was to highlight the importance of ruling out pheochromocytoma in a patient with Von Hippel-Lindau disease (VHL) and cardiovascular manifestations. CLINICAL PRESENTATION AND
interventionA 22-year-old woman with type IIb VHL presented with signs and symptoms of acute decompensated heart failure. Transthoracic echocardiography showed a dilated left ventricle with severely depressed ejection fraction, confirmed by MRI. Urinary catecholamine and metanephrine tests had elevated levels and an abdominal MRI showed the presence of two cystic masses at the left hypochondrium. Surgical resection of both masses was performed, confirming the diagnosis of pheochromocytoma and clear cell renal carcinoma on histology. Six-month echocardiography showed a left ventricle with normal diameters and preserved ejection fraction. Genetic analysis revealed a germline mutation (exon 3 deletion of VHL). As there was no family history of VHL, it was determined to be a de novo mutation.
conclusionThis case report showed an atypical manifestation in a patient with VHL and underlines the importance of screening for pheochromocytoma in such patients.
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