Provocative Cases -> Teaching Case Reports D-PO01 - Featured Poster Session (ID 11) Poster

D-PO01-087 - A Case Series Of Both Arrhythmogenic Right Ventricular Dysplasia And Congenital Coronary Artery Anomaly (ID 915)

  G.F. Tomassoni: Honoraria/Speaking/Consulting Fee - Medtronic; Abbott. Speakers' Bureau - Zoll Medical Corporation.


Background: Congenital anomalous origin of the right coronary artery (RCA) arising from the left main/left anterior descending (LAD) artery and arrhythmogenic right ventricular dysplasia (ARVD) are both rare and distinct causes of sudden cardiac death in the young patient population.
Objective: We report three cases where both conditions were present suggesting an association between the two disease processes.
Methods: A retrospective chart review of three patients with both congenital anomalous origin of the RCA and AVRD was performed at a single institution.
Results: Two patients (pts) were men/one female with a mean age of 23 + 8 yrs old (range 17-32 years). Symptoms (chest pain/near syncope with exertion) were present in two pts. One patient presented with syncope and a rapid left bundle branch block monomorphic ventricular tachycardia at 240 bpm. A Holter monitor demonstrated multifocal PVCs in the other 2 pts. The initial diagnosis in two pts was congenital anomalous origin of the RCA. The third pt was diagnosed with both anomalous origin of the RCA and ARVD. Demonstration of an abnormal cardiac MRI was seen in 1/3 pts. An abnormal EKG with T wave inversion in the anterior leads was present in 2/3 pts. Left heart catheterization in all three patients demonstrated a RCA origin (slit-like with a ledge) arising from the left main/LAD artery with an inter-arterial course between the pulmonary artery and ascending aortic root. All three patients underwent single-vessel bypass with oversewing/reduction of the RCA orifice. Treatment of both symptomatic patients with bypass surgery occurred prior to a later diagnosis of ARVD. Genetic testing was positive in all three pts for a PKP2 gene mutation. Multiple LBBB morphologies of ventricular tachycardia were induced at electrophysiological study with subsequent ICD implantation.
Conclusion: Both congenital anomalous origin of the RCA from the left main/LAD artery and ARVD may be present in the same patient. Symptoms and results of diagnostic testing for ARVD at time of presentation were quite variable. Both genetic testing for PKP2 gene mutation and electrophysiologic study for inducible VT were helpful in the diagnosis of ARVD in this patient population.