Von Hippel–Lindau syndrome with a rare complication of dilated cardiomyopathy: a case report

Background 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. Ca...

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Bibliographic Details
Published in:BMC cardiovascular disorders 2022-11, Vol.22 (1), p.1-489, Article 489
Main Authors: Yu, Ming, Du, Beibei, Yao, Shuai, Ma, Jianghong, Yang, Ping
Format: Article
Language:English
Subjects:
Angiotensin
Blood clots
Blood pressure
Cancer
Cardiac arrhythmia
Cardiac function
Cardiomyopathy
Cardiomyopathy, Dilated
Cardiovascular agents
Care and treatment
Case Report
Case reports
Catecholamines
Cerebellum
Complications and side effects
Computed tomography
Congestive heart failure
Cysts
Dilated cardiomyopathy
Disease
Diuretics
Dosage and administration
Dyspnea
Echocardiography
Ejection fraction
Electrocardiography
Genetic analysis
Genetic disorders
Genetic screening
Heart failure
Hereditary diseases
Hypertension
Kidneys
Magnetic resonance imaging
Metabolism
Missense mutation
Mortality
Mutation
Neprilysin
Patients
Pheochromocytoma
Prevention
Proteins
Respiration
Risk factors
Ventricle
VHL protein
Von Hippel-Lindau disease
Von Hippel–Lindau syndrome
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Summary:Background 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. Case presentation A 35-year-old male patient was admitted to the hospital with dyspnea. The patient had a history of cerebellar hemangioblastoma that had been resected, and a one-year history of hypertension. Echocardiography and cardiac magnetic resonance imaging demonstrated a dilated left ventricle, decreased systolic function, and nonischemic myocardial changes. Contrast-enhanced abdominal computed tomography showed pheochromocytoma, neoplastic lesions, and multiple cysts in the kidneys and pancreas. Genetic analysis revealed a missense mutation of the VHL gene, c.269 A > T (p.Asn90Ile), which was identified as the cause of the disease. Dilated cardiomyopathy and VHL syndrome type 2 were diagnosed. The patient was administered a diuretic, [alpha]-blocker, [beta]-blocker, and an angiotensin receptor neprilysin inhibitor (ARNI), but refused pheochromocytoma resection. At the six-month follow-up, the patient was asymptomatic with improved cardiac function. Conclusion 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 syndrome requires further investigation. Keywords: Von Hippel-Lindau syndrome, Congestive heart failure, Dilated cardiomyopathy, Pheochromocytoma, Case report
ISSN:1471-2261
1471-2261
DOI:10.1186/s12872-022-02913-1