Inherited heart rhythm disorders: Diagnostic dilemmas after the sudden death of a young family member

Abstract

Inherited heart rhythm disorders (IHRD) are uncommon conditions that are often not detected until the tragic sudden unexpected death (SUD) of a seemingly healthy young individual. These conditions include Long QT Syndrome (LQTS), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), and Brugada Syndrome. Due to their rarity and wide variety of presentations, IHRD are often not suspected and, even when they are considered, can be difficult to diagnose. As a result, many people are left undiagnosed, with a potential “time bomb” ticking with every heartbeat. In early 2013, the British Columbia Inherited Arrhythmia Program (BC IAP) was launched by a team of adult and pediatric electrophysiologists, medical geneticists, genetic counselors, clinical and research nurses, and other health professionals. Unfortunately, warning signs of IHRD may be subtle, missed or nonexistent, and thus cardiac arrest or SUD is often the reason for referral to the BC IAP. In an effort to increase awareness and prevent SUD, the BC IAP provides clinical consultation and genetic counseling to index cases (probands) and their families. The comprehensive, multidisciplinary program specializes in the diagnosis, management, and innovative research of IHRD. Here, the proband and their family are supported through the process of diagnostic testing that screens each first degree family member and helps find answers, reveals potential inherited arrhythmia conditions, and potentially plays a crucial role in future research of these rare and incompletely defined conditions.