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Case Reports
. 2018 Jul 25;4(10):486-489.
doi: 10.1016/j.hrcr.2018.07.009. eCollection 2018 Oct.

A large familial pathogenic Plakophilin-2 gene (PKP2) deletion manifesting with sudden cardiac death and lone atrial fibrillation: Evidence for alternating atrial and ventricular phenotypes

Saad Alhassani  1 , Bishoy Deif  1 , Susan Conacher  1 , Kristopher S Cunningham  2 , Jason D Roberts  1
Affiliations
Case Reports

A large familial pathogenic Plakophilin-2 gene (PKP2) deletion manifesting with sudden cardiac death and lone atrial fibrillation: Evidence for alternating atrial and ventricular phenotypes

Saad Alhassani et al. HeartRhythm Case Rep. .
No abstract available

Keywords: Arrhythmogenic right ventricular cardiomyopathy; Atrial fibrillation; Genetics; Molecular autopsy; Sudden cardiac death.

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Figures

Figure 1
Figure 1
Twelve-lead surface electrocardiograms of family members possessing the large PKP2 deletion. A: Deceased proband. B, C: Proband’s brothers with atrial fibrillation, aged 26 (B) and 24 (C). D: Proband’s mother.
Figure 2
Figure 2
Kindred structure. Black, navy blue, and red fill denote sudden cardiac death, atrial fibrillation, and nonsustained atrial arrhythmias, respectively. The family member inaccessible for evaluation is shaded in gray. Genotype is denoted as +/- and age at evaluation or at time of death is provided below.
Figure 3
Figure 3
Wild-type PKP2 gene (14 exons) and the large familial genomic deletion resulting in a truncated gene limited to exons 1–3. GRCh37 genomic coordinates.
See this image and copyright information in PMC

References

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