Understanding arrhythmogenic right ventricular cardiomyopathy: Progression from diagnosis to demise
Al-Darzi W, Parikh M, Aurora L, Mawri S, Zweig B. Understanding arrhythmogenic right ventricular cardiomyopathy: Progression from diagnosis to demise. Journal of Cardiac Failure. 2017;23(8):S94.
J Card Fail
Introduction: Arrhythmogenic right ventricularcardiomyopathy (ARVC) is an under-recognized lethal primary disease of heart muscle which results in fibrofatty replacement of the right ventricle (RV). Familial in origin in 30% of cases, the prevalence of ARVC is estimated at 1 of 2000 to 5000 patients. It may be silent for decades prior topresentation and may lead to sudden cardiac death. Ventricular arrhythmias are the usual initial presentation in the form of palpitations or syncope. ARVC is a progressive disease involving RV, and rarely present with left ventricle (LV) manifestations. Presence of LV dysfunction predicts higher adverse outcomes. Transthoracic echocardiography (TTE) and cardiac magnetic resonance (CMR) are the initial diagnostic modalities. Implant-able cardioverter defibrillator (ICD) lowers the rate of cardiac and non-cardiac mortality Herein, we present a case of ARVC that demonstrates the natural history of the disease. Case Presentation: Ms. C.F. was a 52-year-old woman with history of hypertension and atrial flutter who presented initially with palpitations. She was found to be in ventriculartachycardia (VT) requiring chemical cardioversion. Dobutmaine stress testing revealed dilated RV and induced her VT. Cardiac catheterization showed normal epi-cardial coronaries. CMR showed fat in the RV free wall near the apex and prominent RV trabeculation. Electrophysiology study revealed inducible VT. ICD implantation was recommended for primary prevention given her ARVC; however, the patient declined any invasive procedures and elected medical management only. She also refused genetic testing. Subsequent outpatient cardiology follow up documented recurrent palpitations with episodes of atrial flutter and frequent PVCs. Over the subsequent decade, she continued to decline ICD despite numerous recommendations and counseling, and was unfortunately nonadherent to her medications. She had multiple readmissions with syncope and right heart failure exacerbations with progressive worsening of RV dila-tation and function with preserved LV function on TTE. After 13 years from initial presentation, the patient presented to the emergency in cardiogenic shock requiring ino-tropic support and intubation. At that time, her LV function was significantly diminished with ejection fraction of 20%. She refused invasive testing or any form of hemody-namic monitoring. She furthermore refused consideration of advanced heart failure therapies. Given rapid deterioration in her clinical course, she agreed to hospice enrollment and expired soon afterwards. Conclusion: As our case demonstrates, the natural course involves progressive RV failure culminating in cardiogenic shock and recurrent arrhythmias with risk for sudden cardiac death. LV dysfunction confers higher mortality rates. Early ICD implantation is of paramount importance. Furthermore, education/counseling, genetic testing, and prompt referral to advanced heart failure for advanced therapies and/or cardiac transplantation consideration is essential.