Cardiol Res

Cardiology Research, ISSN 1923-2829 print, 1923-2837 online, Open Access

Article copyright, the authors; Journal compilation copyright, Cardiol Res and Elmer Press Inc

Journal website https://www.cardiologyres.org

Case Report

Volume 14, Number 5, October 2023, pages 409-415

Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual

Figures

Figure 1. Subject’s episodes of care. The relevant data are displayed in the timeline.

Figure 2. Protein-protein interaction network between the arrhythmia panel genes and the mutated genes on the TSC sequencing panel. The purple circle nodes represent the actin filament-based process. The yellow circle nodes represent cell communication involved in cardiac conduction. The solid lines indicate the physical interaction between proteins, whereas the red circle shows the genes analyzed in the genomic screening. TSC: TruSight™ cardio.

Table

**Table 1.** Genetic Variants Identified Using TSC Sequencing Panel
Gene	Chr	HGVSP DNA reference	HGVS protein reference	Consequence	Predicted effect	dbSNP/dbVar ID	Genotype
VUS: variants of uncertain significance.
MYPN	10	NM_001256267.1; c.3335C>T	NM_001256267.1; p.(Pro1112Leu)	Missense variant	Pathogenic	rs71534278	Heterozygous
GCKR	2	NM_001486.3; c.307G>A	NM_001486.3; p.(Val103Met)	Missense variant	Likely Pathogenic	rs146175795	Heterozygous
TTN	2	NM_001267550.2; c.71641G>C	NM_001267550.2; p.(Val23881Leu)	Missense variant	VUS	N/A	Heterozygous
TTN	2	NM_001267550.2; c.9670A>G	NM_001267550.2; p.(Arg3224Gly)	Missense variant	VUS	rs557221911	Heterozygous
SCN5A	3	NM_198056.2; c.2302A>G	NM_198056.2; p.(Ile768Val)	Missense variant	VUS	N/A	Heterozygous
MYO6	6	NM_004999.3; c.2506C>T	NM_004999.3; p.(Arg836Cys)	Missense variant	VUS	rs138305791	Heterozygous
ELN	7	NM_001278939.1; c.2142_2156del	NM_001278939.1; p.(Gly715_Val719del)	In-frame deletion variant	VUS	rs782015142	Heterozygous