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Chronic Thromboembolic Pulmonary Hypertension and Assessment of Right Ventricular Function in the Piglet
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Cardiac Involvement in Von Hippel-Lindau Disease

Ernesto Valero1, Eva Rumiz, Mauricio Pellicer

  • 1Department of Cardiology, Hospital Clx00ED;nico Universitario, Valencia, Spain.

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre
|November 20, 2015
PubMed

Insights

This case report emphasizes screening for pheochromocytoma in Von Hippel-Lindau (VHL) disease patients presenting with heart failure. Early diagnosis and treatment of pheochromocytoma can improve cardiovascular outcomes in VHL patients.

Area of Science:

  • Endocrinology
  • Cardiology
  • Oncology

Background:

  • Von Hippel-Lindau (VHL) disease is a rare genetic disorder predisposing individuals to various tumors.
  • Cardiovascular manifestations are not commonly associated with VHL disease.

Observation:

  • A 22-year-old woman with VHL disease presented with acute decompensated heart failure.
  • Echocardiography revealed a dilated left ventricle with severely reduced ejection fraction.
  • Elevated urinary catecholamines and metanephrines, along with abdominal masses, indicated pheochromocytoma.

Findings:

  • Surgical resection confirmed pheochromocytoma and clear cell renal carcinoma.
  • Post-surgery, the patient's cardiac function significantly improved.
  • Genetic analysis identified a de novo VHL gene mutation.

Implications:

  • This case highlights an atypical presentation of VHL disease with significant cardiovascular impact.
  • Routine screening for pheochromocytoma is crucial in VHL patients with cardiovascular symptoms.
  • Prompt diagnosis and management of pheochromocytoma can lead to favorable cardiac recovery.
Abstract

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