Methods of determining whether a patient suffering froma pheochromocytoma is at risk of developing acatecholamine-induced cardiomyopathy

Pheochromocytomas produce and store catecholamines. The release of excessive amounts of catecholamine can lead to life-threatening catecholamine-induced cardiomyopathy (CIC). The aim of the inventors was to test the hypothesis that some genetic variations that beta1 and alpha-2c adrenergic receptors may impact the risk of developing CIC. Thirty-one patients, including 9 with a history of life-threatening CIC, were analyzed for alpha-2-adrenergic receptors: ADRA2C, beta-1 and beta-2 adrenergic receptors: ADRB1 and ADRB2 genotyping. Single-locus analysis revealed that variants in ADRA2C (alpha 2CDel322–325) and ADRB1 (rs1801252) were more common among patients with life-threatening catecholamine-induced cardiomyopathy than among controls (allele frequency, 0.44 vs. 0.05; P<0.001 0.28 vs. 0.09 p<0.05 respectively). The lack of alpha 2CDel322–325 polymorphism has a negative predictive value of 95% for the onset of CIC. Detection of such polymorphisms should be of valuable help in determining a therapeutic strategy in patients with paraganglioma at high risk of surgical complication.

Keywords: Paraganglioma, Catecholamine-inducd cardiomyopathy, genetic variants, Adrenergic receptors
Patent Application number: EP21 305 289.7 on 10/03/2021 and PCT/EP2022/056061 on 09/03/2022
Publications:
Endocr Relat Cancer 2022 Mar 1 Armar et al. Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy doi: 10.1530/ERC-21-0373. Online ahead of print.

Reference:

BIO21066-D1

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Pierre MAZOT
Pierre MAZOT
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Patent filling date: 2021-03-10

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