Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction

被引：0

作者：

Hirono, Keiichi ^{[1
]}

Hata, Yukiko ^{[2
]}

Imamura, Teruhiko ^{[3
]}

Tsuboi, Kaori ^{[1
]}

Takarada, Shinya ^{[1
]}

Okabe, Mako ^{[1
]}

Nakaoka, Hideyuki ^{[1
]}

Ibuki, Keijiro ^{[1
]}

Ozawa, Sayaka ^{[1
]}

Ichimata, Shojiro ^{[2
]}

Nishida, Naoki ^{[2
]}

Iwasaki, Hidenori ^{[4
]}

Urata, Susumu ^{[5
]}

Okada, Seigo ^{[6
]}

Hiratsuji, Tomoya ^{[7
]}

Sakaguchi, Heima ^{[8
]}

Takigiku, Kiyohiro ^{[9
]}

Nakazawa, Makoto ^{[10
]}

Nishihara, Eiki ^{[11
]}

Harada, Masako ^{[12
]}

Matsuo, Osamu ^{[13
]}

Yasuda, Kenji ^{[14
]}

Yoshida, Yoko ^{[15
]}

Namiki, Hidemasa ^{[16
,17
]}

Yasuda, Kazushi ^{[18
]}

Ifuku, Toshinobu ^{[19
]}

Urayama, Kotaro ^{[20
]}

Oka, Hideharu ^{[21
]}

Ogino, Kayo ^{[22
]}

Kato, Akio ^{[23
,24
]}

Kan, Nobuhiko ^{[25
]}

Seki, Shunji ^{[26
]}

Seki, Mitsuru ^{[27
]}

Odanaka, Yutaka ^{[28
]}

Iwashima, Satoru ^{[29
]}

Yoshida, Shuichiro ^{[30
]}

Miyata, Toyohisa ^{[31
]}

Miyamoto, Tomoyuki ^{[32
]}

Watanabe, Ken ^{[33
]}

Kuwabara, Naoki ^{[34
]}

Inuzuka, Ryo ^{[35
]}

Takahashi, Yoshihiro ^{[36
]}

Sakazaki, Hisanori ^{[37
]}

Muneuchi, Jun ^{[38
]}

Kogaki, Shigetoyo ^{[39
]}

Numano, Fujito ^{[40
]}

Kido, Sachiko ^{[41
]}

Nii, Masaki ^{[42
]}

Hoshino, Shinsuke ^{[43
]}

Ishida, Hidekazu ^{[44
]}

机构：

[1] Univ Toyama, Fac Med, Dept Pediat, 2630 Sugitani, Toyama, Toyama 9300194, Japan

[2] Univ Toyama, Toyama, Japan

[3] Univ Toyama, Fac Med, Dept Internal Med 2, Toyama, Japan

[4] Kanazawa Univ Hosp, Dept Pediat, Kanazawa, Japan

[5] Natl Ctr Child Hlth & Dev, Tokyo, Japan

[6] Yamaguchi Univ, Grad Sch Med, Dept Pediat, Yamaguchi, Japan

[7] Okinawa Prefectural Hokubu Hosp, Dept Pediat, Okinawa, Japan

[8] Natl Cerebral & Cardiovasc Ctr, Dept Pediat Cardiol, Osaka, Japan

[9] Nagano Childrens Hosp, Azumino, Japan

[10] Southern TOHOKU Res Inst Neurosci, Koriyama, Fukushima, Japan

[11] Ogaki Municipal Hosp, Surg, Gifu, Japan

[12] Univ Miyazaki, Miyazaki, Japan

[13] Kumamoto Univ, Kumamoto, Japan

[14] Shimane Univ Hosp, Izumo, Shimane, Japan

[15] Osaka City Gen Hosp, Decis Pediat Electrophysiol, Osaka, Japan

[16] Nihon Univ, Sch Med, Tokyo, Japan

[17] Itabashi Hosp, Tokyo, Japan

[18] Aichi Childrens Hlth & Med Ctr, Dept Pediat Cardiol, Obu, Aichi, Japan

[19] Miyazaki Prefectural Miyazaki Hosp, Dept Pediat, Miyazaki, Japan

[20] Tsuchiya Gen Hosp, Hiroshima, Japan

[21] Asahikawa Med Univ Hosp, Dept Pediat, Asahikawa, Hokkaido, Japan

[22] Kurashiki Cent Hosp, Dept Pediat, Kurashiki, Okayama, Japan

[23] Okinawa Prefectural Nanbu Med Ctr, Dept Pediat Cardiol, Okinawa, Japan

[24] Childrens Med Ctr, Okinawa, Japan

[25] Fukuoka Childrens Hosp, Fukuoka, Japan

[26] Ibusuki Med Ctr, Dept Pediat, Ibusuki, Kagoshima, Japan

[27] Jichi Med Univ, Dept Pediat, Shimotsuke, Tochigi, Japan

[28] Osaka Med & Pharmaceut Univ, Osaka, Japan

[29] Chutoen Gen Med Ctr, Kakegawa, Japan

[30] Japan Community Healthcare Org, Nagoya, Japan

[31] Ehime Univ Hosp, Toon, Japan

[32] KEIYU GEN HOSP, Yokosuka, Japan

[33] Kitano Hosp, Tazuke Kofukai Med Res Inst, Tazuke Kofukai Med Res Inst, Osaka, Japan

[34] Gifu Prefectural Gen Med Ctr, Gifu, Japan

[35] Tokyo Univ Hosp, Ophthalmol, Tokyo, Japan

[36] Kagoshima Univ Hosp, Kagoshima, Japan

[37] Hyogo Prefectural Amagasaki Gen Med Ctr, Dept Pediat Cardiol, Amagasaki, Japan

[38] Japan Community Healthcare Org, Kyushu Hosp, Dept Pediat, Fukuoka, Japan

[39] Osaka Gen Med Ctr, Osaka, Japan

[40] Niigata Univ Med & Dent Hosp, Dept Pediat, Niigata, Japan

[41] Hyogo Prefectural Childrens Hosp, Dept Orthopaed Surg, Kobe, Hyogo, Japan

[42] Shizuoka Childrens Hosp, Pathol, Shizuoka, Japan

[43] Shiga Univ Med Sci, Dept Pediat, Otsu, Japan

[44] Osaka Univ, Grad Sch Med, Osaka, Japan

[45] Tokyo Metropolitan Childrens Med Ctr, Tokyo, Japan

[46] Tokushima Univ Hosp, Tokushima, Japan

[47] Sasebo City Gen Hosp, Dept Pathol, Nagasaki, Japan

[48] Kyoto Prefectural Univ Med, Kyoto, Japan

[49] Niigata City Gen Hosp, Niigata, Japan

[50] Nippon Med Sch, Tamanagayama Hosp, Tokyo, Japan

来源：

JOURNAL OF THE AMERICAN HEART ASSOCIATION | 2024年 / 13卷 / 21期

关键词：

biventricular noncompaction; congenital heart disease; dyskinesis; genetics; heart failure; left ventricular noncompaction; LEFT-VENTRICULAR NONCOMPACTION; DOBUTAMINE STRESS ECHOCARDIOGRAPHY; AKINESIS BECOMING DYSKINESIS; NON-COMPACTION; TRANSCRIPTION FACTOR; GENE-MUTATIONS; CARDIOMYOPATHY; MYOCARDIUM; CLASSIFICATION; PREDICTOR;

D O I：

10.1161/JAHA.124.035614

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy characterized by prominent trabeculations. Detailed characteristics of biventricular noncompaction (BiVNC) remain unknown. This study aimed to elucidate the clinical characteristics and genetic landscape of BiVNC.Methods and Results We recruited children with left ventricular noncompaction from Japanese multi-institutional centers from 2013 to 2021. Left ventricular noncompaction was classified as BiVNC, congenital heart disease, arrhythmia, dilated cardiomyopathy, or normal function. In these patients, cardiomyopathy-associated genes were screened. A total of 234 patients (127 male; mean age, 4 months [range, 0-6.6 years]) were enrolled in this study, of whom 25 had BiVNC; 55, normal function; 84, dilated cardiomyopathy; 38, congenital heart disease; and 32, arrhythmia. BiVNC was diagnosed during the perinatal period in 10 patients, in whom the prevalence was higher than that in other patients. A total of 14 patients in the group with BiVNC had congenital heart disease, but not necessarily right heart lesions. Left ventricular dyskinesis was frequently observed in the lateral wall (24%) and apex (28%). Eleven pathogenic variants were found in 11 patients with BiVNC (44.0%). The group with BiVNC had a higher ratio of mitochondrial and developmental gene variants than the other groups. Among all groups, the group with BiVNC had the worst survival rate (P=0.0009).Conclusions Pediatric patients with BiVNC had a high rate of ventricular dyskinesis and poor outcome. A comprehensive and careful screening for disease-causing genes and phenotype may help identify specific patients with left ventricular noncompaction and mortality-related cardiac phenotypes.

引用

页数：18

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