case_images: PMC10285104_01
case_images: Standard 12-lead surface ECG (A), with a very low voltage atrial activity and irregularly irregular (with no pattern to the RR intervals) ventricular response with a rate of 92 beats/mi. QRS width of 100 msec; QTc 463 msec. Magnification of leads DII and V1 (B), showing almost undetectable atrial electrical activity.
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case_images: F1
case_images: The surface ECG presented atrial fibrillation:with a very low voltage (Figure 1) -and the transthoracic echocardiography estimated the LV ejection fraction to be 65%.
case_images: Left atrial CT scan segmentation. Cardiac computed tomography, with a left atrial volume of 70 ml and a left pulmonary venous drainage pattern R2a/L1.
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case_images: F2
case_images: Voltage map of the right (A) and the left atrium (B), depicting extensive areas of low voltage (red) (cut-off 0.20-0.50 mV). (A1 and B1) Antero-Posterior view; (A2 and B2) posteroanterior view.
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case_images: F3
case_images: The right and left atrial maps revealed extensive LVAs (Figure 3).
case_images: Visualization of next-generation sequencing results, showing the variant c.449G > A, p.(Arg150Gln) in the NPPA gene as homozygous in the index case.
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case_images: F4
case_images: A targeted panel for the inherited cardiac disease were analysed (in Supplementary Material), which revealed the variant c.449G > A, p.(Arg150Gln) in homozygosity in NPPA gene (Figure 4) classified as pathogenic, according to guidelines ACMG/ACGS 2020 (P:PM3_vstr, PP1_str).
case_images: Sanger sequencing showing the variant c.449G > A, p.(Arg150Gln) in NPPA gene, identified in heterozygosity both in the father and the mother of the patient. Black arrows indicate the point mutation.
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case_images: F5
case_images: Familiar segregation studies reveal the consanguinity of the parents, and the presence of the variant in heterozygosity (Figure 5) in both parents was confirmed.
case_images: Images from late gadolinium enhancement (LGE) MRI. Fibrosis assessment with the ADAS 3 D software. The three-dimensional LA model from MRI shows extensive areas of fibrosis (dense scar) involving the posterior wall and the anterior and septal walls. LAA, left atrial appendage; RSVP, right superior pulmonary vein; RIPV, right inferior pulmonary vein.
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case_images: PMC10285104_01_fcvm-10-1149717-g006.jpg
case_images: F6
case_images: In addition, cardiac magnetic resonance imaging was performed (Figure 6), where extensive areas of fibrosis could be identified.