Characterization and Role of Mutations in Sodium-phosphate Cotransporters in Patients With Calcific Aortic Valve Disease

Region Örebro County

Status: Terminated

Conditions: Aortic Valve Stenosis

Study type: Observational

Funder types: Other

Identifiers

NCT01939678

2012-12

Details and patient eligibility

About

The purpose of this study is to investigate whether mutations in genes coding for Na/Pi-cotransporters are associated with aortic valve calcification. A patient population with premature aortic valve calcification treated with aortic valve replacement will be screened for mutations in these specific genes. Furthermore, aortic valve tissue received from the operations, will be examined for the presence of Na/Pi-cotransporters, and for molecular characterization of the transporters.

Enrollment: 3 patients

Sex: All

Ages: Under 65 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients with aortic valve calcification that will be treated with an aortic valve replacement.
• Age ≤ 65 years.
• Signed and dated informed consent.

Exclusion criteria

• Inability to provide informed consent
• Earlier radiation therapy of the thorax
• Severe renal disease (patients in treatment with dialysis)