Publications by authors named "A Polge"
Background: Cardiovascular diseases (CVDs) are currently the leading cause of maternal death in Western countries. Although multidisciplinary cardio-obstetric teams are recommended to improve the management of pregnant women with CVD, data supporting this approach are scarce.
Aims: To describe the characteristics and outcomes of pregnant patients with CVD managed within the cardio-obstetric programme of a tertiary centre.
(1) Transcatheter closure of perimembranous ventricular septal defects (PmVSD) is becoming more attractive and effective with the development of new occluders. The aim of this study was to report a single-center experience in PmVSD closure using the Lifetech Konar-multifunctional occluder (MFO). (2) From March 2019 to October 2022, 43 consecutive patients were enrolled in the study.
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- Mutations in the ANK2 gene linked to autism have been identified since 2012, but detailed clinical descriptions were lacking until now.
- This Research Letter presents the first comprehensive characterization of a patient with autism caused by a novel mutation in the ANK2 gene.
- The findings aim to enhance understanding of ANK2-related autism and improve its diagnosis in the future.*