Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction

• DOI: 10.1161/jaha.124.035614
• Publication Date: 2024-11-04T10:55:48Z
• Authors: Keiichi Hirono; Yukiko Hata; Teruhiko Imamura; Kaori Tsuboi; Shinya Takarada; Mako Okabe; Hideyuki Nakaoka; Keijiro Ibuki; Sayaka Ozawa; Shojiro Ichimata; Naoki Nishida; Hidenori Iwasaki; Susumu Urata; Seigo Okada; Tomoya Hiratsuji; Heima Sakaguchi; Kiyohiro Takigiku; Makoto Nakazawa; Eiki Nishihara; Masako Harada; Osamu Matsuo; Kenji Yasuda; Yoko Yoshida; Hidemasa Namiki; Kazushi Yasuda; Toshinobu Ifuku; Kotaro Urayama; Hideharu Oka; Kayo Ogino; Akio Kato; Nobuhiko Kan; Shunji Seki; Mitsuru Seki; Yutaka Odanaka; Satoru Iwashima; Shuichiro Yoshida; Toyohisa Miyata; Tomoyuki Miyamoto; Ken Watanabe; Naoki Kuwabara; Ryo Inuzuka; Yoshihiro Takahashi; Hisanori Sakazaki; Jun Muneuchi; Shigetoyo Kogaki; Fujito Numano; Sachiko Kido; Masaki Nii; Shinsuke Hoshino; Hidekazu Ishida; Jun Maeda; Yasunobu Hayabuchi; Yoshikazu Otsubo; Kazuyuki Ikeda; Shinya Tsukano; Makoto Watanabe; Nobuo Momoi; Takanari Fujii; Tao Fujioka; Mitsuhiro Fujino; Hiroki Uchiyama; Shigehito Baba; Hitoshi Horigome; Takashi Honda; Kazutaka Suzuki; Fukiko Ichida
• Keywords: Left ventricular noncompaction; Dilated Cardiomyopathy

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