“…This pathway leads to a ventricular pre-excitation, causing palpitations, syncope, ventricular fibrillation, and even sudden cardiac death. 11,12 Recently, variants in the PI3K-AKT pathway have been described to be associated with overgrowth syndromes (PIK3CA-Related Overgrowth Spectrum, PROS), such as Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP, MIM # 602501) and Megalencephalypolymicrogyria-polydactyly-hydrocephalus syndrome-1 (MPPH, # MIM but also Congenital lipomatous asymmetric overgrowth, epidermal naevi, skeletal and spinal anomalies syndrome (CLOVES, # MIM 612918), as well as hemimegalencephaly and isolated macrodactyly. 13 For this reason, the analysis of a panel of genes involved in the PI3K/AKT/mTOR pathway was performed from a saliva sample of our patient and the gene panel testing came back negative.…”