Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc
Journal website https://www.journalmc.org

Case Report

Volume 15, Number 8, August 2024, pages 186-194


Exploring Atrial Fibrillation: Understanding the Complex Relation Between Lifestyle and Genetic Factors

Figures

Figure 1.
Figure 1. Modifiable and nonmodifiable risk factors associated with cardiovascular diseases. The lines in blue represent the modifiable risk factors, while the lines in red show the nonmodifiable risk factors.
Figure 2.
Figure 2. Timeline highlighting the relevant episodes of care of the subject.
Figure 3.
Figure 3. STRING protein-protein interactions. The globes in red have been associated with atrial fibrillation, and the TTN gene is shown in white. The line colors indicate the type of interaction evidence with a minimum required interaction score of 0.700 (high confidence).
Figure 4.
Figure 4. Location of the Ser1103Tyr variant in the SCN5A channel protein. Shown in red is the amino acid corresponding to position 1103. The first part of the protein was not included to specifically pinpoint the location of the variant. The Figure was created using Protter [28].

Table

Table 1. Variants Identified in the Participant
 
GeneChrHGVSP DNA referenceHGVS protein referenceConsequencePredicted effectdbSNP/dbVar IDGenotype
SCN5A3NM_198056.2
c.3308C>A
NM_198056.2
p.(Ser1103Tyr)
Missense variantVUS-Heterozygous
TTN2NM_001267550.2
c.9116C>T
NM_001267550.2
p.(Thr3039Ile)
Missense variantVUS-Heterozygous