Familial Cardiac Syncope
Tóm tắt
Background
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an uncommon inherited cardiac disease characterized by progressive right ventricular (RV) dysfunction due to fibro-fatty replacement of the myocardium and associated with high risk of ventricular arrhythmias and sudden cardiac death (SCD). ARVC/D has a predominantly autosomal dominant inheritance, although recessive forms associated with a cutaneous phenotype are observed.
Case: A 19-year-old otherwise healthy girl was presented with palpitation and chest discomfort. She had history of having syncope for 2 times. On detailed history, her father died of sudden cardiac death at 39 years of age while traveling without significant known cardiac risks. He also had frequent episodes of syncope. Her sister also had repeated attacks of syncope.
Physical examination did not reveal any abnormality. Her heart rhythm was regular and no abnormal heart sounds. Her past EKG showed ventricular tachycardia of left bundle branch block morphology with superior axis (negative QRS in leads II, III, and aVF and positive in lead aVL). Her EKG in sinus state showed inverted T waves in V1 to V6 in the absence of right bundle branch block. 24-hour Holter showed moderately frequent PVCs (15% PVCs load), 6 runs of Non-sustained VT. Echocardiogram of the patient and her sister revealed dilated RV and excessive trabeculation with RV wall motion abnormality.
Discussion: In light of her clinical presentation, family history and objective findings, there was a high suspicion for ARVC. Since cardiac MRI was not available, the diagnosis for ARVC was confirmed by using International Task Force criteria. The patient met 1 major and 3 minor criteria, hence she was finally diagnosed as ARVC. Since there were frequent episodes of syncope with documented ventricular tachycardia, management plan for her was ICD as secondary prevention. Therefore, both her sister and herself are now on regular follow up.
Conclusion: A young lady presenting with frequent palpitation and recurrent syncope with documented ventricular tachycardia and history of similar symptoms and sudden cardiac death in her family could be considered as inherited tachy-arrythmias. Although, cardiac MRI is ideally indicated to detect fibro-fatty replacement of the myocardium in ARVC, in this case, we diagnosed by using clinical criteria with clinical history, EKG and echocardiogram. This case highlighted the importance and usefulness of International Task Force criteria as a practical tool for the diagnosis of ARVC in the settings with limited available resources.
