Nov 19, 2015 · 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.

Nov 18, 2022 · Von Hippel–Lindau (VHL) syndrome is an autosomal dominant hereditary disease affecting multiple organs, with pheochromocytoma in 26% of cases. However, VHL syndrome with congestive heart failure and dilated cardiomyopathy as the primary clinical manifestations has been rarely reported.

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.

Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. [3] It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation.

Nov 18, 2022 · Cardiac involvement is an atypical manifestation in VHL syndrome. Early diagnosis with genetic screening is essential for avoiding life-threatening complications associated with VHL. The management of this rare manifestation of VHL …

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. Trans-thoracic echocardiography showed a dilated left ventricle with severely depressed ejection fraction, confirmed by MRI.

Von Hippel-Lindau (VHL) syndrome is an autosomal-dominant, multi-organ, familial neoplastic syndrome, which is caused by genetic aberrations of the tumor suppressor gene VHL.

Dec 19, 2016 · Our findings reveal VHL-HIF-mediated metabolic compartmentalization in the developing heart and the connection between metabolism and myocardial differentiation. These results highlight the importance of bioenergetics in ventricular myocardium specialization and its potential relevance to congenital heart disease.

Jul 21, 2011 · We show that acute Vhl gene inactivation also induced Epo gene expression in the heart, revealing cardiac tissue to be an extra-renal source of EPO. Indeed, primary cardiomyocytes and HL-1 cardiac cells both induce Epo gene expression when exposed to low O 2 tension in a HIF-dependent manner.

VHL is a rare genetic disorder that happens if you inherit a specific genetic mutation. Treatment is surgery to remove tumors. People with Von-Hippel Lindau disease have increased risk for several different types of cancerous and non-cancerous tumors. What is von Hippel-Lindau disease?