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

BMC Genomics

Table 1 Characteristics of enrolled subjects

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

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)

ISSN: 1471-2164