title: Arrhythmogenic right ventricular dysplasia: a United States experience.
abstract: BACKGROUND
  Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by right ventricular dysfunction and ventricular arrhythmias. The purpose of our study was to describe the presentation, clinical features, survival, and natural history of ARVD in a large cohort of patients from the United States.
  
  
  RESULTS
  The patient population included 100 ARVD patients (51 male; median age at presentation, 26 [interquartile range {IQR}, 18 to 38; range, 2 to 70] years). A familial pattern was observed in 32 patients. The most common presenting symptoms were palpitations, syncope, and sudden cardiac death (SCD) in 27%, 26%, and 23% of patients, respectively. Among those who were diagnosed while living (n=69), the median time between first presentation and diagnosis was 1 (range, 0 to 37) year. During a median follow-up of 6 (IQR, 2 to 13; range, 0 to 37) years, implantable cardioverter/defibrillators (ICD) were implanted in 47 patients, 29 of whom received an appropriate ICD discharge, including 3 patients who received the ICD for primary prevention. At follow-up, 66 patients were alive, of whom 44 had an ICD in place, 5 developed signs of heart failure, 2 had a heart transplant, and 18 were on drug therapy. Thirty-four patients died either at presentation (n=23: 21 SCD, 2 noncardiac deaths) or during follow-up (n=11: 10 SCD, 1 of biventricular heart failure), of whom only 3 were diagnosed while living and 1 had an ICD implanted. On Kaplan-Meier analysis, the median survival in the entire population was 60 years.
  
  
  CONCLUSIONS
  ARVD patients present between the second and fifth decades of life either with symptoms of palpitations and syncope associated with ventricular tachycardia or with SCD. Diagnosis is often delayed. Once diagnosed and treated with an ICD, mortality is low. There is a wide variation in presentation and course of ARVD patients, which can likely be explained by the genetic heterogeneity of the disease.
authors.affiliation: Division of Cardiology, The Johns Hopins University School of Medicine, Baltimore, MD, USA.
authors.forename: Darshan
authors.initials: D
authors.lastname: Dalal
authors.forename: Khurram
authors.initials: K
authors.lastname: Nasir
authors.forename: Chandra
authors.initials: C
authors.lastname: Bomma
authors.forename: Kalpana
authors.initials: K
authors.lastname: Prakasa
authors.forename: Harikrishna
authors.initials: H
authors.lastname: Tandri
authors.forename: Jonathan
authors.initials: J
authors.lastname: Piccini
authors.forename: Ariel
authors.initials: A
authors.lastname: Roguin
authors.forename: Crystal
authors.initials: C
authors.lastname: Tichnell
authors.forename: Cynthia
authors.initials: C
authors.lastname: James
authors.forename: Stuart D
authors.initials: SD
authors.lastname: Russell
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Judge
authors.forename: Theodore
authors.initials: T
authors.lastname: Abraham
authors.forename: Philip J
authors.initials: PJ
authors.lastname: Spevak
authors.forename: David A
authors.initials: DA
authors.lastname: Bluemke
authors.forename: Hugh
authors.initials: H
authors.lastname: Calkins
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000209:etiology; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis / Q000453:epidemiology* / Q000401:mortality / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D016757:Death, Sudden, Cardiac / Q000209:etiology; D017147:Defibrillators, Implantable / Q000706:statistics & numerical data; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D015996:Survival Rate; D013575:Syncope / Q000209:etiology; D017180:Tachycardia, Ventricular / Q000209:etiology; D014481:United States / Q000453:epidemiology