Autosomal Recessive Atrial Dilated Cardiomyopathy With Standstill Evolution Associated With Mutation of Natriuretic Peptide Precursor A

• DOI: 10.1161/circgenetics.112.963520
• Publication Date: 2012-12-30T01:12:33Z
• Authors: Marcello Disertori; Silvia Quintarelli; Maurizia Grasso; Andrea Pilotto; Nupoor Narula; Valentina Favalli; Camilla Canclini; Marta Diegoli; Silvia Mazzola; Massimiliano Marini; Maurizio Del Greco; Roberto Bonmassari; Michela Masè; Flavia Ravelli; Claudia Specchia; Eloisa Arbustini
• Keywords: Dilated Cardiomyopathy; Atrial natriuretic peptide

Background— Atrial dilatation and atrial standstill are etiologically heterogeneous phenotypes with poorly defined nosology. In 1983, we described 8-years follow-up of evolution in 8 patients from 3 families. We later identified 5 additional identical phenotypes: 1 member the largest original family 4 unrelated to All families same geographic area Northeast Italy. Methods Results— followed up 13 for 37 years, extended clinical investigation monitoring living relatives, investigated genetic basis disease. The disease was characterized by: (1) onset adulthood; (2) biatrial giant size; (3) early supraventricular arrhythmias progressive loss electric activity standstill; (4) thromboembolic complications; (5) stable, normal left ventricular function New York Heart Association functional class during long-term course By linkage analysis, mapped a locus at 1p36.22 containing Natriuretic Peptide Precursor A gene. sequencing , homozygous missense mutation (p.Arg150Gln) all affected individuals 6 showed low serum levels natriuretic peptide. Heterozygous carriers were healthy demonstrated Conclusions— Autosomal recessive dilated cardiomyopathy is rare associated gene by extreme evolution, risk, preserved function, severely decreased