Chasing the Elusive Variant: Perseverance in Hypertrophic Cardiomyopathy Genetic Diagnosis

We report a case of hypertrophic cardiomyopathy (HCM) with biventricular involvement caused by a homozygous variant in the <i>ALPK3</i> gene, which was initially missed because of a lack of update of genetic testing panels. This case serves as a reminder of the importance of keeping genetic testing panels up to date and continuously reviewing negative genetic results, as failing to do so may result in missed or delayed diagnoses. Moreover, we suggest that Klippel-Feil syndrome may be a new feature of the homozygous <i>ALPK3</i> phenotype.