Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis

被引:6
作者
Feldman, Hagit Baris [1 ,2 ,9 ,10 ,11 ,12 ]
Gadot, Chofit Chai [1 ,2 ]
Zahler, David [3 ,9 ,10 ]
Mory, Adi [1 ,2 ]
Aviram, Galit [4 ,9 ,10 ]
Elhanan, Emil [1 ,2 ,5 ]
Shefer, Gabi [6 ]
Goldiner, Ilana [6 ,9 ,10 ]
Amir, Yam [1 ,2 ,9 ,10 ]
Kurolap, Alina [1 ,2 ]
Ablin, Jacob N. [7 ,8 ,9 ,10 ]
机构
[1] Tel Aviv Sourasky Med Ctr, Genet Inst, Tel Aviv, Israel
[2] Tel Aviv Sourasky Med Ctr, Genom Ctr, Tel Aviv, Israel
[3] Tel Aviv Sourasky Med Ctr, Dept Cardiol, Tel Aviv, Israel
[4] Tel Aviv Sourasky Med Ctr, Dept Radiol, Tel Aviv, Israel
[5] Tel Aviv Sourasky Med Ctr, Dept Nephrol, Tel Aviv, Israel
[6] Tel Aviv Sourasky Med Ctr, Clin Labs, Tel Aviv, Israel
[7] Tel Aviv Sourasky Med Ctr, Dept Internal Med, Tel Aviv, Israel
[8] Inst Rheumatol, Tel Aviv Sourasky Med Ctr, Tel Aviv, Israel
[9] Tel Aviv Sourasky Med Ctr, Tel Aviv, Israel
[10] Tel Aviv Univ, Fac Med, Tel Aviv, Israel
[11] Tel Aviv Sourasky Med Ctr, Genet Inst, 6 Weizmann St, IL-6423906 Tel Aviv, Israel
[12] Tel Aviv Sourasky Med Ctr, Genom Ctr, 6 Weizmann St, IL-6423906 Tel Aviv, Israel
关键词
NATRIURETIC-PEPTIDE; BIOMARKERS; VARIANTS; MUTATION;
D O I
10.1056/NEJMoa2301908
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Two siblings presented with cardiomyopathy, hypertension, arrhythmia, and fibrosis of the left atrium. Each had a homozygous null variant in CORIN, the gene encoding atrial natriuretic peptide (ANP)-converting enzyme. A plasma sample obtained from one of the siblings had no detectable levels of corin or N-terminal pro-ANP but had elevated levels of B-type natriuretic peptide (BNP) and one of the two protein markers of fibrosis that we tested. These and other findings support the hypothesis that BNP cannot fully compensate for a lack of activation of the ANP pathway and that corin is critical to normal ANP activity, left atrial function, and cardiovascular homeostasis. Findings from a study involving two siblings homozygous for a null variant in CORIN have implications for understanding the extent to which the BNP and ANP pathways overlap.
引用
收藏
页码:1685 / 1692
页数:8
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