Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency

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CAH-X syndrome results from defects in CYP21A2 and TNXB genes, affecting 7%-15% of congenital adrenal hyperplasia patients.
2

The study identified cardiac abnormalities, including persistent truncus arteriosus, in CAH-X patients not seen in other cohorts.
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Increased muscle echogenicity was observed in CAH-X patients compared to matched controls, particularly in the legs.
4

Only 5% of the cohort carried the CAH-X CH1 chimera, which is linked to Ehlers-Danlos syndrome symptoms.
5

Regular genetic and clinical screening is essential for managing potential complications associated with CAH-X syndrome.

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