ESPE Abstracts (2022) 95 P1-86


1Charité Universitätsmedizin Berlin, Berlin, Germany; 2Universitätsspital Bern, Bern, Switzerland; 3University of Michigan, Ann Arbor, USA

Pro-opiomelanocortin (POMC) and the melanocortin-4-receptor (MC4R) are playing a key role within the leptin-melanocortin-pathway and thereby for satiety regulation. Mutations within these genes are leading to hyperphagia and early-onset obesity. However, observations of cardiac abnormalities including left ventricular dilatation and reduced contractibility in the MC4R knockout mouse model and reports about a reduced blood pressure in human MC4R variant carriers, led us to investigate in detail the cardiac function of patients with mutations in the genes POMC and MC4R. We characterized the cardiac phenotype of patients with homozygous or compound homozygous POMC mutations and patients with heterozygous MC4R mutations using cardiovascular MRI and 23Na-MRI and compared the results to non-monogenic obese and normal weight controls. Additionally, we analyzed the blood pressure in a cohort of obese patients with heterozygous MC4Rmutations. We observed a significant lower left ventricular mass/body surface area (LV mass/BSA) as well as reduced absolute LV mass. Moreover, the LV end-diastolic volume/BSA was significantly decreased and the skin Na+ content and skin water content were increased in MC4R- and POMC-variant carriers. We observed no altered blood pressure values in patients with heterozygous MC4R mutations compared to age- and weight-matched controls. In conclusion, we identified cardiac abnormalities in this group of patients with mutations in the genes POMC and MC4R. In combination with the results of related animal models, this might point towards a complex connection between these genes of the leptin melanocortin pathway and heart function. Additionally, the results demonstrate the relevance to include cardiologic assessments into the diagnostic work-up of these group of patients.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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