Cardiovascular Evaluation of Adult PHA 1 Patients (PHACARV)
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.
Pseudohypoaldosteronism Type 1
|Study Design:||Observational Model: Family-Based
Time Perspective: Cross-Sectional
|Official Title:||Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1|
- Cardiac or vascular abnormality at ultrasound or NMR evaluation [ Time Frame: day one ] [ Designated as safety issue: No ]
- Extracellular volume, biology, autonomic nervous system abnormality [ Time Frame: day one + day two ] [ Designated as safety issue: No ]
- New gene responsible for PHA1 [ Time Frame: day one ] [ Designated as safety issue: No ]
|Study Start Date:||May 2008|
|Study Completion Date:||May 2011|
|Primary Completion Date:||May 2011 (Final data collection date for primary outcome measure)|
patients without mineralocorticoid receptor mutation
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.