PAOLO ALBERTO GASPARINI; ELISA LODI; ELEONORA RODIGHIERO; JONATHAN JOSE' ROSERO MORALES; GIUSEPPE FANTINI; MARIA GRAZIA MODENA
Abstract
Background: Aarskog-Scott Syndrome (AAS), also known as facio-digital-genital dysplasia, is a rare syndrome mainly characterized by short stature, skeletal disorders and genitourinary ...
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Background: Aarskog-Scott Syndrome (AAS), also known as facio-digital-genital dysplasia, is a rare syndrome mainly characterized by short stature, skeletal disorders and genitourinary dysmorphisms (1).
Case report: We present the case of two caucasian male twins affected by AAS and Patent Foramen Ovale (PFO). The AAS diagnosis was genetically confirmed by the homozygous mutation on the FGD1 gene on exon 6, variant c.1327 C>T p. (Arg443 Cys). Twins described in this report would have been at a higher risk of CHD because of three elements: they were affected by AAS, they were born after IVF, and they were twins. Despite having all these characteristics, only a PFO was detected. 2021 European position paper (22) asserts that after an incidental finding of a PFO, conventional flight or diving should not be denied. In professional divers and selected military pilots performing intensive high-altitude flight activities, a primary PFO percutaneous closure should be recommended.
Conclusion: A first echocardiography evaluation should be performed on a child presenting malformations because of possible involvement of the heart; nevertheless, we do not believe that AAS patients should undergo a mandatory cardiological follow-up. The larger PFOs or those with significant resting shunts should require a follow-up based on specific patient characteristics.
