Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing | Zendy

Elisa Bombardieri | Zendy; Marianne Rohrbach | Zendy; Matthias Greutmann | Zendy; Gábor Mátyás | Zendy; Roland Weber | Zendy; Jovana Radulovic | Zendy; Margrit Fasnacht Boillat | Zendy; Andr Linka | Zendy; Gabriela De Pasquale | Zendy; Francesca Bonassin | Zendy; Christine H. Attenhofer Jost | Zendy

Open Access

Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing

Author(s) -

Elisa Bombardieri,

Marianne Rohrbach,

Matthias Greutmann,

Gábor Mátyás,

Roland Weber,

Jovana Radulovic,

Margrit Fasnacht Boillat,

Andr Linka,

Gabriela De Pasquale,

Francesca Bonassin,

Christine H. Attenhofer Jost

Publication year - 2020

Publication title -

schweizerische medizinische wochenschrift

Language(s) - English

Resource type - Journals

ISSN - 0036-7672

DOI - 10.4414/smw.2020.20189

Subject(s) - medicine , marfan syndrome , connective tissue , genetic testing , intensive care medicine , pathology , surgery

In this cohort a high percentage of patients fulfilling the revised Ghent criteria for MFS underwent genetic testing, often leading to or confirming the diagnosis of MFS. Other CTDs could be discriminated best by genetic testing. With respect to the diagnosis of MFS and related CTDs, the usefulness of the systemic score is limited, showing the importance of genetic testing, which enabled definitive diagnosis in 95% of tested patients. Patient education on medical treatment still has to be improved. (Trial registration no: KEK-ZH-Nr. 2013-0241).

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research