Atrial fibrillation and NPPA gene p.S64R mutation: Are cardiologists helpless spectators of healthy mutation carriers?

Marcello Disertori, Michela Masè, Nupoor Narula, Silvia Mazzola, Elena C Dal Piaz, Silvia Quintarelli, Alessandro Cristoforetti, Massimiliano Marini, Flavia Ravelli, Eloisa Arbustini

Research output: Contribution to journalArticlepeer-review

Abstract

Aims Heterozygous p.(Ser64Arg) mutation in the natriuretic peptide precursor A gene has been associated with atrial fibrillation in the presence of common single nucleotide polymorphisms (rs10033464 and rs2200733; 4q25) that would act as modifiers. Methods We screened natriuretic peptide precursor A gene in 583 individuals and identified three unrelated carriers of the p.(Ser64Arg) mutation (0.5%). Results Only one of the three mutation carriers had episodes of atrial fibrillation. Cascade screening of the three families identified seven additional mutation carriers, none showing atrial fibrillation. The patients with atrial fibrillation also carried the rs2200733, which was however found in four additional nonatrial fibrillation family members and carriers of the p.(Ser64Arg). The prevalence of atrial fibrillation in p.(Ser64Arg) carriers was 10% and in those combining the mutation with the risk single nucleotide polymorphisms was 20%. In the unique mutated patient with atrial fibrillation, the arrhythmias was refractory to both pharmacological and ablation treatment, during 16 years of follow-up; his electrophysiological phenotype was characterized by short atrial cycle lengths with a median value of 131ms that suggests shortening of atrial action potential. Conclusion The prevalence of p.(Ser64Arg) mutation is low in the general population as is the prevalence of atrial fibrillation in mutation carriers (1/10). Atrial fibrillation in the affected mutated patient was lone at onset and progressively evolved with peculiar electrophysiological patterns.

Original languageEnglish
Pages (from-to)177-180
Number of pages4
JournalJournal of Cardiovascular Medicine
Volume17
Issue number3
DOIs
Publication statusPublished - Mar 1 2016

Keywords

  • atrial fibrillation
  • electrophysiology
  • genetics
  • natriuretic peptide precursor A gene

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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