Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death

Patient Information

This case series involves a 5-generation French Canadian family presenting with a significant history of unexplained sudden cardiac arrest and sudden cardiac death. Among the family members evaluated at a multidisciplinary cardiac genetics clinic in a tertiary referral center in Canada, five individuals identified as carriers of a novel RYR2 gene variant were studied. The affected individuals included two females and three males, with an age range of 17 to 59 years at their first clinical evaluation. The family history was notable for multiple instances of sudden unexplained deaths and sudden cardiac arrests occurring at relatively young ages, prompting referral for genetic and clinical evaluation.

Diagnosis