Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: The Role of Electrophysiology Testing in Survivors of Unexplained Cardiac Arrest

Summary: Sudden cardiac death (SCD) remains a major cause of mortality within developed nations despite aggressive efforts to reduce its societal burden. Despite extensive clinical and genetic investigations, a subgroup of cardiac arrests remain unexplained, highlighting the potential contribution of additional cardiac conditions that may not be identified with contemporary diagnostic algorithms. The EPS ARREST study aims to evaluate the role of invasive electrophysiology study within this patient population.

Detailed description: The majority of cases of SCD in older individuals occur secondary to coronary and structural heart disease, while genetic channelopathies and cardiomyopathies are prominent contributors in young adults. Among individuals that suffer aborted cardiac arrests in the absence of overt coronary and structural heart disease, diagnostic algorithms that screen for cardiac channelopathies and more subtle forms of structural heart disease have been established. Despite the extensive investigations currently utilized, a significant proportion of aborted cardiac arrests remain unexplained.
  Although invasive electrophysiology studies are a cornerstone for diagnosis and management of arrhythmia disorders, they are not invariably included in the workup of cases of unexplained aborted cardiac arrest. This is largely driven by initial studies suggesting that the diagnostic yield in this context is low, however these investigations often used invasive electrophysiology studies indiscriminately in all cases of aborted cardiac arrest. Since these earlier studies, our insight and approach to SCD has evolved and it has become clear that the majority of patients do not require an invasive electrophysiology study for diagnosis. However an invasive electrophysiology study may still have an important role among these individuals when the initial workup is negative. Notably, arrhythmias that require invasive electrophysiology for diagnosis, including bundle branch reentrant ventricular tachycardia and supraventricular tachycardias associated with hemodynamic collapse, have been identified as arrhythmic culprits in this patient population.
  The goal of the EPS ARREST study is to evaluate the diagnostic yield of a standardized invasive electrophysiology study among survivors of SCD when initial investigations fail to identify an underlying etiology.

Eligibility: Inclusion Criteria:
  1. Unexplained cardiac arrest requiring cardioversion or defibrillation
  2. Willing and able to sign informed consent
  Exclusion Criteria:
  1. Coronary artery disease (stenosis > 50%) and clinical findings consistent with an ischemic arrest
  2. Reduced left ventricular function (left ventricular ejection fraction < 50%) on echocardiogram or cardiac MRI.
  3. Persistent resting QTc > 460 msec for males and 480 msec for females
  4. Resting QTc < 350 msec
  5. Type I Brugada ECG with >/= 2 mm ST elevation in V1 and/or V2 (Spontaneous or Drug-Induced)
  6. Polymorphic or bidirectional ventricular tachycardia observed with exertion on exercise treadmill testing
  7. Clinical, electrocardiographic, and/or imaging findings consistent with a diagnosis of arrhythmogenic right ventricular cardiomyopathy
  8. Myocarditis
  9. Reversible cause of cardiac arrest such as marked hypokalemia (<2.8 mmol/l) or drug overdose sufficient in severity without other cause to explain the cardiac arrest.
  10. Arrhythmic mitral valve prolapse syndrome
  11. Documented ventricular fibrillation initiated by a short-coupled premature ventricular contraction

Relevance to patient case: not relevant