A recently expanded cohort of 19 patients with biallelic ALPK3 variants, including 9 of the previously published paediatric patients (10 new probands including two compound heterozygous adults), displayed similar phenotypes, with most presenting initially as DCM without LVH and then evolving to HCM with impaired systolic function associated with extracardiac manifestations including scoliosis, facial dysmorphism and cleft palate.8 This evidence concerns the gene ALPK3 and scoliosis.