Arrhythmogenic right ventricular dysplasia: a United States experience.
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.
Dalal
Darshan
D
Division of Cardiology, The Johns Hopins University School of Medicine, Baltimore, MD, USA.
Nasir
Khurram
K
Bomma
Chandra
C
Prakasa
Kalpana
K
Tandri
Harikrishna
H
Piccini
Jonathan
J
Roguin
Ariel
A
Tichnell
Crystal
C
James
Cynthia
C
Russell
Stuart D
SD
Judge
Daniel P
DP
Abraham
Theodore
T
Spevak
Philip J
PJ
Bluemke
David A
DA
Calkins
Hugh
H
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