Cardiovascular Evaluation of Adult PHA 1 Patients

Overview

Vascular and cardiac alterations are associated with aldosterone effects are evidenced in experimental models and aldosterone receptor blockade is of clear benefit in cardiac disease (heart failure). The study aims at assessing vascular and cardiac alterations in adults with a chronic increase in circulating aldosterone without hypertension. The investigated population will be patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor.

The study includes adult patients with mineralocorticoid receptor mutation as compared with not affected relatives. It includes also relatives of adult relative of patients with PHA1 in whom no mutation was found. Cardiovascular evaluation is conducted with cardiac and vascular ultrasound assessment and cardiac NMR, ambulatory blood pressure measurement. Protocol duration is 2 days . Detailed genetic study is conducted in family without identified mutation in MINERALORECEPTOR.

Conditions

Eligibility

Locations (1)

Outcomes