Hypertrophic cardiomyopathy associate with a PLN gene mutation in a child: a case report

Background: gene on chromosome 6 (NM_002667.5:c.106T>C, p.Cys36Arg). This mutation in children, not previously reported in the literature except for an adult, expand the known spectrum of PLN-related HCM and highlight the importance of comprehensive diagnostic approaches in children patients. Case Description: gene variant site associated with HCM was reported only in an adult female, and this is the first case reported in a pediatric patient. Conclusions: gene mutations, emphasizing the importance of comprehensive diagnostic workup in child patient with thickening of ventricular septum diseases. Additionally, it underscores the importance of genetic testing via whole-exome sequencing use and cardiac function care in HCM diseases.