Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear

Circ Arrhythm Electrophysiol. 2014 Apr;7(2):230-6. doi: 10.1161/CIRCEP.113.000932. Epub 2014 Mar 1.

Abstract

Background: Cardiac sarcoidosis (CS) may show overlap in the clinical presentation with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). We sought to investigate patients with CS who were misdiagnosed with ARVD/C and identify clinical features to distinguish these 2 groups.

Methods and results: Among patients enrolled in the Johns Hopkins ARVD/C registry, 15 patients with definite 2010 diagnostic criteria for ARVD/C were subsequently diagnosed with CS. Forty-two pathogenic desmosomal mutation carriers with definite ARVD/C based on the 2010 diagnostic criteria served as a control group. Patients with CS were older at the age of symptom onset, more likely to have comorbidities, and develop heart failure symptoms over time (P<0.05). Electrocardiographically, PR interval prolongation and high-grade atrioventricular block were exclusively associated with CS (P<0.05). HV interval prolongation and increased number of ventricular tachycardias induced were also associated with CS (P<0.05). Radiographically, significant left ventricular dysfunction, myocardial delayed enhancement of the septum, and mediastinal lymphadenopathy were more often see in those with CS (P<0.05).

Conclusions: The 2010 diagnostic criteria for ARVD/C have limited discrimination in distinguishing between ARVD/C and CS. Despite the overlay in clinical presentation, older age of symptom onset, presence of cardiovascular comorbidities, nonfamilial pattern of disease, PR interval prolongation, high-grade atrioventricular block, significant left ventricular dysfunction, myocardial delayed enhancement of the septum, and mediastinal lymphadenopathy should raise the suspicion for CS.

Keywords: arrhythmogenic right ventricular dysplasia; diagnosis; sarcoidosis.

Publication types

  • Multicenter Study
  • Observational Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Arrhythmogenic Right Ventricular Dysplasia / diagnosis*
  • Arrhythmogenic Right Ventricular Dysplasia / physiopathology
  • Arrhythmogenic Right Ventricular Dysplasia / therapy
  • Biopsy
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / physiopathology
  • Cardiomyopathies / therapy
  • Diagnosis, Differential
  • Echocardiography
  • Electric Countershock
  • Electrocardiography
  • Female
  • Follow-Up Studies
  • Humans
  • Magnetic Resonance Angiography
  • Male
  • Middle Aged
  • Myocardium / pathology*
  • Phenotype
  • Positron-Emission Tomography
  • Prognosis
  • Retrospective Studies
  • Sarcoidosis / diagnosis*
  • Sarcoidosis / physiopathology
  • Sarcoidosis / therapy
  • Tomography, X-Ray Computed
  • Young Adult