Introduction:
The reported incidence of heart failure (HF) in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) varies depending on study cohort ranging from <10 to 20%. Though risk of fatal arrhythmias is well described, the heterogenous manifestations of HF in this population are less well known.
Hypothesis:
With more prompt recognition of ARVD/C and subsequent prevention of SCD, HF is becoming more prevalent amongst ARVD/C patients.
Methods:
Patients from the Johns Hopkins ARVD/C Program Registry meeting the 2010 Revised Task Force Criteria with completed HF symptom survey (n=134) and/or available HF clinical assessment (n=154) were included. HF signs and symptoms were retrospectively adjudicated.
Results:
Of the 288 patients studied, 236 had evidence of structural heart disease defined as right ventricular (n=199) or biventricular dilatation/dysfunction (n=37). At least one clinical sign or symptom of HF was present in 123 (52%) of those with structural disease (42 had one and 61 had two or more signs/symptoms). The most commonly reported symptoms were dyspnea on exertion (n=87) and fatigue (n=77). Evidence of volume retention (edema or ascites) was found in 46/236 (20%), and left-sided HF symptoms were rare. Of the 105 patients with structural heart disease and known age at HF symptom onset, average time from first ARVD/C presentation to HF symptoms was 6.3 ± 8.0 years, and 40% had at least one episode of sustained ventricular tachycardia or ICD shock prior to HF symptoms. Presence of a genetic mutation for ARVD/C did not correlate with HF symptoms or structural changes. Sixteen patients underwent orthotopic heart transplant.
Conclusions:
HF symptoms are common in the ARVD/C population with structural heart disease. Though there is a small subset of patients with evident volume overload requiring therapy, there is a larger portion of patients with HF symptoms that may be under recognized.
745High risk of heart failure in desmoglein-2 mutation carriers in arrhythmogenic right ventricular dysplasia/cardiomyopathy