MARIA GRAZIA MODENA; ELISA LODI; ELEONORA RODIGHIERO; PAOLO ALBERTO GASPARINI; JONATHAN JOSE' ROSERO MORALES; GIUSEPPE FANTINI
Abstract
Aarskog-Scott syndrome (AAS) is a rare syndrome mainly characterized by short stature, skeletal disorders and genitourinary dysmorphisms.
We present the case of two caucasian male dichorionic ...
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Aarskog-Scott syndrome (AAS) is a rare syndrome mainly characterized by short stature, skeletal disorders and genitourinary dysmorphisms.
We present the case of two caucasian male dichorionic twins < 1 years old affected by AAS and a patent foramen ovale (PFO). It was reported that AAS is probably associated with an increased risk of CHD and children affected by this syndrome should undergo cardiological evaluation.
Nevertheless, the few AAS-related CHD were only described over 25 years ago in patients without genetic diagnosis and were mainly reported as mild, with spontaneous resolution and that represent the most frequent CHD that can be found among the general population. The absence of genetic diagnosis of AAS among the AAS-related CHD could possibly imply that the patients studied were affected by other syndromes phenotypically similar to AAS, but genotypically different, thus, the certain correlation of AAS and increased risk of CHD has not been identified.
0/60 genetically confirmed AAS patients of different ages showed CHD.
Among the genetically confirmed AAS patients described in literature, the only candidates for an echocardiographic follow-up might be the children from our report under rare circumstances in rare specific conditions, because even if a PFO is an extremely frequent physiological finding among the population, a follow-up is needed in case of professional diving, military/high altitude and astronautical flights
