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A burden of sarcomere gene variants in fetal-onset patients with left ventricular noncompaction

医学 心脏病学 内科学 优势比 先证者 胎儿超声心动图 室致密化不全 胎儿 心力衰竭 心肌病 产前诊断 怀孕 遗传学 突变 基因 生物
作者
Keiichi Hirono,Yukiko Hata,Sayaka Ozawa,Takako Toda,Nobuo Momoi,Yutaka Fukuda,Ryo Inuzuka,Hiroki Nagamine,Heima Sakaguchi,Kenichi Kurosaki,Mako Okabe,Shinya Takarada,Nariaki Miyao,Hideyuki Nakaoka,Keijiro Ibuki,Hideki Origasa,Neil E. Bowles,Naoki Nishida,Fukiko Ichida
出处
期刊:International Journal of Cardiology [Elsevier BV]
卷期号:328: 122-129 被引量:7
标识
DOI:10.1016/j.ijcard.2020.12.013
摘要

Background Left ventricular noncompaction (LVNC) is a hereditary cardiomyopathy, associated with high morbidity and mortality, but the role of genetics in cases of fetal-onset has not been fully evaluated. The goal of this study was to identify the genetic background in LVNC fetal-onset patients using next-generation sequencing (NGS). Methods Thirty-three fetal-onset Japanese probands with LVNC (20 males and 13 females) were enrolled. In the enrolled patients, 81 genes associated with cardiomyopathy were screened using next-generation sequencing (NGS) retrospectively. Results Twenty-three patients had congestive heart failure (CHF), and six patients had arrhythmias. Prominent trabeculations were mostly observed in lateral LV, posterior LV, and apex of LV in patients with LVNC. Twelve died; three patients experienced intrauterine death or termination of pregnancy. Overall, 15 variants were found among eight genes in 16 patients. Seven variants were detected in MYH7 and two in TPM1. Sarcomere gene variants accounted for 75.0%. A multivariable proportional hazards model revealed that CHF at diagnosis and a higher ratio of the noncompacted layer/compacted layer in the LV posterior wall were independent risk factors for death in LVNC fetal-onset patients (odds ratio = 4.26 × 106 and 1.36 × 108, p = 0.0075 and 0.0005, respectively). Conclusions The present study is the first report focusing on genetic background combined with clinical features in LVNC fetal-onset patients using NGS. Sarcomere variants were most commonly identified in fetal-onset patients, and greater attention should be paid to fetal-onset patients with LVNC having prominent trabeculations in the LV because they are more likely to develop CHF.
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