Table 2.

Clinical and Genetic Features From Patients Carrying Rare TRPM4 Variants

Patients					TRPM4 Variants			Variant Frequency in ExAc (Controls)
No.	Age and Rhythm at Diagnosis		Age and Rhythm at Implantation		Exon	Nucleotide	Amino Acid	European
1	10.5 years	Complete AVB	13 years	Complete AVB	05	c.593A>G	p.Asp198Gly	0
2	6 months	AVB1 AVB2 Type 1	9 years	Complete AVB	06	c.755G>A	p.Arg252His	0.0082
3a	5 years	Complete AVB	11 years	Complete AVB	11 13	c.1294G>A c.1744G>A	p.Ala432Thr p.Gly582Ser	0.0005 0.0006
4a	7 years	First‐degree AVB	No pacemaker	—	11 13	c.1294G>A c.1744G>A	p.Ala432Thr p.Gly582Ser	0.0005 0.0006
5	6 years	Complete AVB	9 years	Complete AVB	11	c.1458_1493del36	p.Lys487_Leu498del	0
6	4 months	Complete AVB	5 months	Complete AVB	15	c.2030C>T	p.Thr677Ile	0
7	In utero 33 weeks of gestation	Complete AVB	3 days	Complete AVB	16	c.2209G>A	p.Gly737Arg	0.0017
8	In utero 36 weeks of gestation	Complete AVB	1 day	Complete AVB	17	c.2531G>A	p.Gly844Asp	0.0044
9	At birth	Complete AVB	3 days	Complete AVB	17	c.2531G>A	p.Gly844Asp	0.0044
10	8.5 years	Complete AVB	8.5 years	Complete AVB	17	c.2531G>A	p.Gly844Asp	0.0044
11	At birth	Complete AVB	2 days	Complete AVB	17	c.2531G>A	p.Gly844Asp	0.0044
12	In utero 38 weeks of gestation	Complete AVB	1 day	Complete AVB	17	c.2531G>A	p.Gly844Asp	0.0044
13	18 months	AVB1 AVB 2/1	2 years	Complete AVB	18	c.2761G>A	p.Val921Ile	0.0001
14	5 years	Complete AVB	5.5 years	Complete AVB	24	c.3611C>T	p.Pro1204Leu	0.0051

TRPM4 genotypes and their respective allele frequencies in controls are presented for 14 congenital AVB cases. Age and rhythm at diagnosis and pacemaker implantation are presented for each patient. (1) c.355G>T, p.A119S. (2) c.5415_5418del415 p.Thr1806SerfsX27. AVB indicates atrioventricular block; ExAc, Exome Aggregation Consortium.

^aPatients 3 and 4 also harbor NKX2.5 and SCN5A point mutations, respectively.