Genetic testing for aortic valve stenosis

Open access


Aortic valve stenosis (AVS) is a congenital aortic defect in which the aortic lumen narrows due to thickening or calcification of the aortic valve without obstructing left ventricular outflow. Depending on the site of obstruction, AVS is classified as valvular, sub-valvular or supra-valvular. The prevalence of AVS is about 3% and increases with age. One in eight persons over the age of 75 years has moderate or severe AVS. AVS has autosomal dominant inheritance. It can be associated with mutations in the following genes: NOTCH1, SMAD6, SMAD4, and ELN. This Utility Gene Test was developed on the basis of the analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials, when available.

1. Czarny MJ, Resar JR. Diagnosis and Management of Valvular Aortic Stenosis. Clinical Medicine Insights Cardiology 2014; 8(Suppl 1): 15-24.

2. Roberts WC. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol 1970; 26(1): 72-83.

3. Kleinert S, Ott DA, Geva T. Critical discrete subaortic stenosis in the newborn period. Am Heart J1993; 125(4): 1187-89.

4. Darcin OT, Yagdi T, Atay Y, Engin C, Levent E, Buket S, Alayunt EA. Discrete Subaortic Stenosis: Surgical Outcomes and Follow-Up Results. Texas Heart Institute Journal 2003; 30(4): 286-92.

5. Vaideeswar P, Shankar V, Deshpande JR, Sivaraman A, Jain N. Pathology of the diffuse variant of supravalvar aortic stenosis. Cardiovasc Pathol 2001; 10(1): 33-37.

6. Stamm C, Friehs I, Ho SY, Moran AM, Jonas RA, del Nido PJ. Congenital supravalvar aortic stenosis: a simple lesion? Eur J Cardiothorac Surg 2001; 19(2): 195-02.

7. Patrice B. Supravalvular aortic stenosis. Orphanet encyclopedia 2003;

8. Nkomo VT, Gardin JM, Skelton TN, Gottdiener JS, Scott CG, Enriquez-Sarano M. Burden of valvular heart diseases: a population-based study. Lancet 2006; 368(9540): 1005-11.

9. Dutta P, Lincoln J. Calcific aortic valve disease: a developmental biology perspective. Current Cardiology Reports 2018; 20(4): 21.

10. Li DY, Brooke B, Davis EC, Mecham RP, Sorensen LK, Boak BB, Eichwald E, Keating MT. Elastin is an essential determinant of arterial morphogenesis. Nature 1998; 393(6682): 276-80.

11. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD; Centers for Disease Control and Prevention (CDC). Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep 2009; 58(RR-6): 1-37.

Journal Information


All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 29 29 29
PDF Downloads 14 14 14