Skip to main content

Table 1 Characteristics of enrolled subjects

From: The arrhythmogenic cardiomyopathy-specific coding and non-coding transcriptome in human cardiac stromal cells

ID Used for Mutations Arrhythmias Dysfunction,structural and tissue alterations ECG abnormalities ACM
ACM1 m,t,mv,tv PKP2:1643delG PVCs; ventricular fibrillation RV wall hypokinesia; LV and RV dilation; fibro-adipose substitution Inverted T-waves (5/1)
ACM2 t,mv,tv PKP2:c.1881delC n.c. n.c. n.c. (4/1)
ACM3 t,mv,tv n.a. n.c. n.c. n.c. (1/2)
ACM4 m,mv,tv PKP2:2013delC Arrhythmic storm; sustained VT RV bulging; RV subendocardic trabeculation; fibro-adipose substitution   (3/1)
ACM5 m,mv n.a. Arrhythmic storm; sustained VT RV wall hypokinesia; fibro-adipose substitution Inverted T-waves (2/1)
ACM6 mv,tv n.a. PVCs RV dilation and bulging; RV wall hypokinesia   (2/1)
ACM7 tv,mv PKP2:c.548G > A n.c. n.c. n.c. (3/0)
ACM8 tv,mv n.a. n.c. n.c. n.c. (3/0)
CTRL1 m,t,mv,tv n.a.     
CTRL2 m,t,mv,tv n.a.     
CTRL3 m,t,mv,tv n.a.     
CTRL4 tv n.a.     
CTRL5 tv n.a.     
CTRL6 mv,tv      
CTRL7 mv,tv      
  1. All are male individuals aged 37 to 64. Abbreviations: n.a. Not available, PVC Premature ventricular contractions, VT Ventricular Tachycardia, m Whole genome miRNA screening, t Whole genome transcriptome analysis, mv miRNA validation, tv Transcriptome validation. n.c.: not shown because consent for publication not signed. Column ACM: number of diagnostic criteria based on ACM task force 2010 in the form (major/minor)