Supravalvular aortic stenosis as a non-syndromic familial disease. Relevance of familial screening

Int J Cardiol. 2014 Mar 15;172(2):511-2. doi: 10.1016/j.ijcard.2014.01.050. Epub 2014 Jan 23.

Authors

María Martín¹, Sandra Secades², Ana M Plasencia³, María Luisa Rodríguez², Cecilia Corros², Ana García-Campos², José Manuel García-Ruiz², Jesús M de la Hera², Carlos Morales⁴

Affiliations

¹ Cardiology Department, Hospital Universitario Central de Asturias, Spain. Electronic address: [email protected].
² Cardiology Department, Hospital Universitario Central de Asturias, Spain.
³ Genetics Department, Hospital Universitario Central de Asturias, Spain.
⁴ Cardiac Surgery Department, Hospital Universitario Central de Asturias, Spain.

PMID: 24491872
DOI: 10.1016/j.ijcard.2014.01.050

No abstract available

Keywords: Familial screening; Supravalvular aortic stenosis.

Publication types

Case Reports
Letter

MeSH terms

Adult
Aortic Stenosis, Supravalvular / diagnostic imaging
Aortic Stenosis, Supravalvular / genetics*
Echocardiography, Transesophageal
Female
Genetic Predisposition to Disease
Humans
Introns
Male
Mutation