Work

Chasing the Elusive Variant: Perseverance in Hypertrophic Cardiomyopathy Genetic Diagnosis

Year: 2026

Type: article

Abstract: We report a case of hypertrophic cardiomyopathy (HCM) with biventricular involvement caused by a homozygous variant in the ALPK3 gene, which was initially missed because of a lack of updating 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 ALPK3 phenotype.

Source: CJC Open

DOI: 10.1016/j.cjco.2026.02.006

Authors: Caterina Butturini, Helena Llamas-Gómez, José Eduardo López-Haldón, Marcela Mena, Salud Borrego, María Luisa Peña-Peña