Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2016;25(2):196-8.
doi: 10.1159/000442525. Epub 2015 Nov 19.

Cardiac Involvement in Von Hippel-Lindau Disease

Ernesto Valero  1 , Eva Rumiz, Mauricio Pellicer
Affiliations
Case Reports

Cardiac Involvement in Von Hippel-Lindau Disease

Ernesto Valero et al. Med Princ Pract. 2016.

Abstract

Objective: The 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 intervention: A 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.

Conclusion: This case report showed an atypical manifestation in a patient with VHL and underlines the importance of screening for pheochromocytoma in such patients.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Transthoracic echocardiography. a Apical view showing a dilated left ventricle (LV) with severely depressed ejection fraction at diagnosis. b Apical view showing normalization of the LV diameters with preserved ejection fraction 6 months after surgical resection.
Fig. 2
Fig. 2
Abdominal MRI showing two cystic masses (white boxes) at the left hypochondrium.
See this image and copyright information in PMC

References

    1. Lonser RR, Glenn GM, Walther M, et al. Von Hippel-Lindau disease. Lancet. 2003;361:2059–2067. - PubMed
    1. AlFadhli SM, Mohammed B, Yassin A. Germline mutation in the von Hippel-Lindau gene in Kuwait: a clinical and molecular study. Med Princ Pract. 2008;17:395–399. - PubMed
    1. Tsirlin A, Oo Y, Sharma R, et al. Pheochromocytoma: a review. Maturitas. 2014;77:229–238. - PubMed
    1. Prejbisz A, Lenders JW, Eisenhofer G, et al. Cardiovascular manifestations of phaeochromocytoma. J Hypertens. 2011;29:2049–2060. - PubMed
    1. Pappachan JM, Raskauskiene D, Sriraman R, et al. Diagnosis and management of pheochromocytoma: a practical guide to clinicians. Curr Hypertens Rep. 2014;16:442. - PubMed

Publication types