TY - JOUR
T1 - Cardiovascular effects of aldosterone
T2 - Insight from adult carriers of mineralocorticoid receptor mutations
AU - Escoubet, Brigitte
AU - Couffignal, Camille
AU - Laisy, Jean Pierre
AU - Mangin, Laurence
AU - Chillon, Sylvie
AU - Laouénan, Cédric
AU - Serfaty, Jean Michel
AU - Jeunemaitre, Xavier
AU - Mentré, France
AU - Zennaro, Maria Christina
PY - 2013/8
Y1 - 2013/8
N2 - Background-High plasma aldosterone has deleterious cardiovascular effects that are independent of blood pressure, but the role of the mineralocorticoid receptor remains unclear. Renal pseudohypoaldosteronism type 1 is a rare autosomaldominant disease caused by NR3C2 loss-of-function mutations, which is characterized by renal salt loss and compensatory high renin and aldo secretion. We aimed to assess the cardiovascular outcomes in adults carrying NR3C2 mutations. Methods and Results-In this case-control study, 39 NR3C2 mutation carriers were compared with sex-and age-paired noncarriers. Patients underwent cardiac and vascular ultrasound, cardiac MRI with gadolinium injection, measurement of pulse wave velocity, extracellular water, 24-hour ambulatory blood pressure, and autonomous nervous system activity. Mutation carriers showed increased aldo and renin plasma levels (4.5-and 1.6-fold, respectively; P
AB - Background-High plasma aldosterone has deleterious cardiovascular effects that are independent of blood pressure, but the role of the mineralocorticoid receptor remains unclear. Renal pseudohypoaldosteronism type 1 is a rare autosomaldominant disease caused by NR3C2 loss-of-function mutations, which is characterized by renal salt loss and compensatory high renin and aldo secretion. We aimed to assess the cardiovascular outcomes in adults carrying NR3C2 mutations. Methods and Results-In this case-control study, 39 NR3C2 mutation carriers were compared with sex-and age-paired noncarriers. Patients underwent cardiac and vascular ultrasound, cardiac MRI with gadolinium injection, measurement of pulse wave velocity, extracellular water, 24-hour ambulatory blood pressure, and autonomous nervous system activity. Mutation carriers showed increased aldo and renin plasma levels (4.5-and 1.6-fold, respectively; P
KW - Aldosterone
KW - Mineralocorticoid
KW - Mutation
KW - Pseudohypoaldosteronism
KW - Receptors
KW - Rennin-angiotensin system
UR - http://www.scopus.com/inward/record.url?scp=84884523077&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84884523077&partnerID=8YFLogxK
U2 - 10.1161/CIRCGENETICS.113.000115
DO - 10.1161/CIRCGENETICS.113.000115
M3 - Article
C2 - 23852419
AN - SCOPUS:84884523077
SN - 1942-325X
VL - 6
SP - 381
EP - 390
JO - Circulation: Cardiovascular Genetics
JF - Circulation: Cardiovascular Genetics
IS - 4
ER -