Case report: Mutation in NPPA gene as a cause of fibrotic atrial myopathy

Figures

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  Figure 1. 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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  Figure 2. 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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  Figure 3. 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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  Figure 4. 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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  Figure 5. 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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  Figure 6. 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.