Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.
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Hirono Keiichi, Hata Yukiko, Imamura Teruhiko, Tsuboi Kaori, Takarada Shinya, Okabe Mako, Nakaoka Hideyuki, Ibuki Keijiro, Ozawa Sayaka, Ichimata Shojiro, Nishida Naoki, Iwasaki Hidenori, Urata Susumu, Okada Seigo, Hiratsuji Tomoya, Sakaguchi Heima, Takigiku Kiyohiro, Nakazawa Makoto, Nishihara Eiki, Harada Masako, Matsuo Osamu, Yasuda Kenji, Yoshida Yoko, Namiki Hidemasa, Yasuda Kazushi, Ifuku Toshinobu, Urayama Kotaro, Oka Hideharu, Ogino Kayo, Kato Akio, Kan Nobuhiko, Seki Shunji, Seki Mitsuru, Odanaka Yutaka, Iwashima Satoru, Yoshida Shuichiro, Miyata Toyohisa, Miyamoto Tomoyuki, Watanabe Ken, Kuwabara Naoki, Inuzuka Ryo, Takahashi Yoshihiro, Sakazaki Hisanori, Muneuchi Jun, Kogaki Shigetoyo, Numano Fujito, Kido Sachiko, Nii Masaki, Hoshino Shinsuke, Ishida Hidekazu, Maeda Jun, Hayabuchi Yasunobu, Otsubo Yoshikazu, Ikeda Kazuyuki, Tsukano Shinya, Watanabe Makoto, Momoi Nobuo, Fujii Takanari, Fujioka Tao, Fujino Mitsuhiro, Uchiyama Hiroki, Baba Shigehito, Horigome Hitoshi, Honda Takashi, Suzuki Kazutaka, Ichida Fukiko
Аннотация
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.