ABSTRACT
OBJECTIVES: To identify the clinical presentation of children and adolescents affected by 1 of 4 cardiac conditions predisposing to sudden cardiac arrest: hypertrophic cardiomyopathy, long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and anomalous origin of the left coronary artery from the right sinus of Valsalva (ALCA-R). STUDY DESIGN: This was a retrospective review of newly diagnosed pediatric patients with hypertrophic cardiomyopathy, LQTS, CPVT, and ALCA-R referred for cardiac evaluation at 6 US centers from 2008 to 2014. RESULTS: A total of 450 patients (257 male/193 female; median age 10.1 years [3.6-13.8 years, 25th-75th percentiles]) were enrolled. Patient age was ≤13 years for 70.4% of the cohort (n = 317). Sudden cardiac arrest was the initial presentation in 7%; others were referred on the basis of abnormal or suspicious family history, personal symptoms, or physical findings. Patients with LQTS and hypertrophic cardiomyopathy were referred most commonly because of family history concerns. ALCA-R was most likely to have abnormal signs or symptoms (eg, exercise chest pain, syncope, or sudden cardiac arrest). Patients with CPVT had a high incidence of syncope and the greatest incidence of sudden cardiac arrest (45%); 77% exhibited exercise syncope or sudden cardiac arrest. This study demonstrated that suspicious or known family history plays a role in identification of many patients ultimately affected by 1 of the 3 genetic disorders (hypertrophic cardiomyopathy, LQTS, CPVT). CONCLUSION: Important patient and family history and physical examination findings may allow medical providers to identify many pediatric patients affected by 4 cardiac disorders predisposing to sudden cardiac arrest.