Cardiac Phenotype and Tissue Sodium Content in Adolescents With Defects in the Melanocortin System.
Lia PuderSophie RothPhilipp KrabuschSusanna WiegandRobert OpitzMartin BaldChrista FlückEsther SchulzEgbert VossLajos MarkóPeter LinzFelix BergerDominik N MullerTitus KuehneMichael J LittRoger D ConePeter KühnenMarcus KelmPublished in: The Journal of clinical endocrinology and metabolism (2021)
Patients with POMC or MC4R mutations carriers had a lack of transition to hypertrophy, significantly lower cardiac muscle mass/BSA, and stored more Na+ within the subcutaneous fat tissue than nonmonogenic obese patients. The results point towards the role of the melanocortin pathway for cardiac function and tissue Na+ storage and the importance of including cardiologic assessments into the diagnostic work-up of these patients.