Publication:
Cardiac Phenotype and Tissue Sodium Content in Adolescents With Defects in the Melanocortin System.

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dc.contributor.authorPuder, Lia
dc.contributor.authorRoth, Sophie
dc.contributor.authorKrabusch, Philipp
dc.contributor.authorWiegand, Susanna
dc.contributor.authorOpitz, Robert
dc.contributor.authorBald, Martin
dc.contributor.authorFlück Pandey, Christa Emma
dc.contributor.authorSchulz, Esther
dc.contributor.authorVoss, Egbert
dc.contributor.authorMarkó, Lajos
dc.contributor.authorLinz, Peter
dc.contributor.authorBerger, Felix
dc.contributor.authorMüller, Dominik N
dc.contributor.authorKuehne, Titus
dc.contributor.authorLitt, Michael J
dc.contributor.authorCone, Roger D
dc.contributor.authorKühnen, Peter
dc.contributor.authorKelm, Marcus
dc.date.accessioned2024-10-06T18:49:51Z
dc.date.available2024-10-06T18:49:51Z
dc.date.issued2021-08-18
dc.description.abstractCONTEXT Pro-opiomelanocortin (POMC) and the melanocortin-4 receptor (MC4R) play a pivotal role in the leptin-melanocortin pathway. Mutations in these genes lead to monogenic types of obesity due to severe hyperphagia. In addition to dietary-induced obesity, a cardiac phenotype without hypertrophy has been identified in MC4R knockout mice. OBJECTIVE We aimed to characterize cardiac morphology and function as well as tissue Na+ content in humans with mutations in POMC and MC4R genes. METHODS A cohort of 42 patients (5 patients with bi-allelic POMC mutations, 6 heterozygous MC4R mutation carriers, 19 obese controls without known monogenic cause, and 12 normal weight controls) underwent cardiac magnetic resonance (CMR) imaging and 23Na-MRI. RESULTS Monogenic obese patients with POMC or MC4R mutation respectively had a significantly lower left ventricular mass/body surface area (BSA) than nonmonogenic obese patients. Left ventricular end-diastolic volume/BSA was significantly lower in POMC- and MC4R-deficient patients than in nonmonogenic obese patients. Subcutaneous fat and skin Na+ content was significantly higher in POMC- and MC4R-deficient patients than in nonmonogenic obese patients. In these compartments, the water content was significantly higher in patients with POMC and MC4R mutation than in control groups. CONCLUSION 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.
dc.description.numberOfPages11
dc.description.sponsorshipUniversitätsklinik für Kinderheilkunde
dc.identifier.doi10.48350/161518
dc.identifier.pmid34036349
dc.identifier.publisherDOI10.1210/clinem/dgab368
dc.identifier.urihttps://boris-portal.unibe.ch/handle/20.500.12422/57741
dc.language.isoen
dc.publisherOxford University Press
dc.relation.ispartofThe journal of clinical endocrinology and metabolism
dc.relation.issn1945-7197
dc.relation.organizationDCD5A442BADAE17DE0405C82790C4DE2
dc.relation.organizationDCD5A442C248E17DE0405C82790C4DE2
dc.relation.organizationDCD5A442C266E17DE0405C82790C4DE2
dc.subjectMC4R Monogenic obesity POMC cardiac function left ventricular function melanocortin pathway tissue sodium content tissue water content
dc.subject.ddc600 - Technology::610 - Medicine & health
dc.titleCardiac Phenotype and Tissue Sodium Content in Adolescents With Defects in the Melanocortin System.
dc.typearticle
dspace.entity.typePublication
dspace.file.typetext
oaire.citation.endPage2616
oaire.citation.issue9
oaire.citation.startPage2606
oaire.citation.volume106
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oairecerif.author.affiliationUniversitätsklinik für Kinderheilkunde
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oairecerif.author.affiliation2Department for BioMedical Research, Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie)
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unibe.date.licenseChanged2021-12-07 14:08:33
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