Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease (Nov 2024)
Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction
- 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
Affiliations
- Keiichi Hirono
- Department of Pediatrics, Faculty of Medicine University of Toyama Japan
- Yukiko Hata
- Legal Medicine, Faculty of Medicine University of Toyama Japan
- Teruhiko Imamura
- 2nd Department of Internal Medicine, Faculty of Medicine University of Toyama Japan
- Kaori Tsuboi
- Department of Pediatrics, Faculty of Medicine University of Toyama Japan
- Shinya Takarada
- Department of Pediatrics, Faculty of Medicine University of Toyama Japan
- Mako Okabe
- Department of Pediatrics, Faculty of Medicine University of Toyama Japan
- Hideyuki Nakaoka
- Department of Pediatrics, Faculty of Medicine University of Toyama Japan
- Keijiro Ibuki
- Department of Pediatrics, Faculty of Medicine University of Toyama Japan
- Sayaka Ozawa
- Department of Pediatrics, Faculty of Medicine University of Toyama Japan
- Shojiro Ichimata
- Legal Medicine, Faculty of Medicine University of Toyama Japan
- Naoki Nishida
- Legal Medicine, Faculty of Medicine University of Toyama Japan
- Hidenori Iwasaki
- Department of Pediatrics Kanazawa University Hospital Ishikawa Japan
- Susumu Urata
- Division of Cardiology National Center for Child Health and Development Tokyo Japan
- Seigo Okada
- Department of Pediatrics Yamaguchi University Graduate School of Medicine Yamaguchi Japan
- Tomoya Hiratsuji
- Department of Pediatrics Okinawa Prefectural Hokubu Hospital Okinawa Japan
- Heima Sakaguchi
- Department of Pediatric Cardiology National Cerebral and Cardiovascular Center Osaka Japan
- Kiyohiro Takigiku
- Department of Pediatric Cardiology Nagano Children’s Hospital Nagano Japan
- Makoto Nakazawa
- Department of Pediatrics Southern Tohoku Research Institute for Neuroscience Fukushima Japan
- Eiki Nishihara
- Department of Pediatric Cardiology and Neonatology Ogaki Municipal Hospital Gifu Japan
- Masako Harada
- Department of Pediatrics Miyazaki University Hospital Miyazaki Japan
- Osamu Matsuo
- Department of Pediatrics Kumamoto University Kumamoto Japan
- Kenji Yasuda
- Department of Pediatrics Shimane University Hospital Shimane Japan
- Yoko Yoshida
- Decision of Pediatric Electrophysiology Osaka City General Hospital Osaka Japan
- Hidemasa Namiki
- Department of Pediatrics and Child Health Nihon University School of Medicine & Itabashi Hospital Tokyo Japan
- Kazushi Yasuda
- Department of Pediatric Cardiology Aichi Children’s Health and Medical Center Aichi Japan
- Toshinobu Ifuku
- Department of Pediatrics Miyazaki Prefectural Miyazaki Hospital Miyazaki Japan
- Kotaro Urayama
- Department of Pediatrics Tsuchiya General Hospital Hiroshima Japan
- Hideharu Oka
- Department of Pediatrics Asahikawa Medical University Hospital Asahikawa Hokkaido Japan
- Kayo Ogino
- Department of Pediatrics Kurashiki Central Hospital Okayama Japan
- Akio Kato
- Department of Pediatric Cardiology Okinawa Prefectural Nanbu Medical Center and Children’s Medical Center Okinawa Japan
- Nobuhiko Kan
- Department of Fetal and Neonatal Cardiology Fukuoka Children’s Hospital Fukuoka Japan
- Shunji Seki
- Department of Pediatrics Ibusuki Medical Center Kagoshima Japan
- Mitsuru Seki
- Department of Pediatrics Jichi Medical University Tochigi Japan
- Yutaka Odanaka
- Department of Pediatrics Osaka Medical and Pharmaceutical University Osaka Japan
- Satoru Iwashima
- Department of Pediatrics Chutoen General Medical Center Shizuoka Japan
- Shuichiro Yoshida
- Department of Pediatrics Cardiology, Chukyo Hospital Japan Community Healthcare Organization Aichi Japan
- Toyohisa Miyata
- Department of Pediatrics Ehime University Hospital Ehime Japan
- Tomoyuki Miyamoto
- Department of Pediatrics Yokosuka General Hospital Kanagawa Japan
- Ken Watanabe
- Department of Pediatrics Kitano Hospital Tazuke Kofukai Medical Research Institute Osaka Japan
- Naoki Kuwabara
- Department of Pediatric Cardiology Gifu Prefectural General Medical Center Gifu Japan
- Ryo Inuzuka
- Department of Pediatrics Tokyo University Hospital Tokyo Japan
- Yoshihiro Takahashi
- Department of Pediatrics Kagoshima University Hospital Kagoshima Japan
- Hisanori Sakazaki
- Department of Pediatric Cardiology Hyogo Prefectural Amagasaki General Medical Center Hyogo Japan
- Jun Muneuchi
- Department of Pediatrics, Kyushu Hospital Japan Community Healthcare Organization Fukuoka Japan
- Shigetoyo Kogaki
- Department of Pediatrics and Neonatology Osaka General Medical Center Osaka Japan
- Fujito Numano
- Department of Pediatrics Niigata University Medical and Dental Hospital Niigata Japan
- Sachiko Kido
- Department of Cardiology Hyogo Prefectural Children’s Hospital Hyogo Japan
- Masaki Nii
- Department of Cardiology Shizuoka Children’s Hospital Shizuoka Japan
- Shinsuke Hoshino
- Department of Pediatrics Shiga University of Medical Science Otsu Shiga Japan
- Hidekazu Ishida
- Department of Pediatrics Osaka University Graduate School of Medicine Osaka Japan
- Jun Maeda
- Division of Cardiology Tokyo Metropolitan Children’s Medical Center Tokyo Japan
- Yasunobu Hayabuchi
- Department of Pediatrics Tokushima University Hospital Tokushima Japan
- Yoshikazu Otsubo
- Department of Pediatrics Sasebo City General Hospital Nagasaki Japan
- Kazuyuki Ikeda
- Department of Pediatrics Kyoto Prefectural University of Medicine Kyoto Japan
- Shinya Tsukano
- Department of Pediatrics Niigata City General Hospital Niigata Japan
- Makoto Watanabe
- Department of Pediatrics Nippon Medical School Hospital Tokyo Japan
- Nobuo Momoi
- Department of Pediatrics Fukushima Medical University Hospital Fukushima Japan
- Takanari Fujii
- Pediatric Heart Disease and Adult Congenital Heart Disease Center Showa University Hospital Tokyo Japan
- Tao Fujioka
- Department of Pediatrics Japanese Red Cross Medical Center Tokyo Japan
- Mitsuhiro Fujino
- Department of Pediatric Cardiology Osaka City General Hospital Osaka Japan
- Hiroki Uchiyama
- Department of Pediatrics Hamamatsu University Hospital Shizuoka Japan
- Shigehito Baba
- Department of Pediatrics Niigata University Medical and Dental Hospital Niigata Japan
- Hitoshi Horigome
- Department of Pediatrics University of Tsukuba Hospital Ibaraki Japan
- Takashi Honda
- Department of Pediatrics Kitasato University School of Medicine Kanagawa Japan
- Kazutaka Suzuki
- Department of Pediatrics Nagoya City University Hospital Aichi Japan
- Fukiko Ichida
- Department of Pediatrics International University of Health and Welfare Tokyo Japan
- DOI
- https://doi.org/10.1161/JAHA.124.035614
- Journal volume & issue
-
Vol. 13,
no. 21
Abstract
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.
Keywords
- biventricular noncompaction
- congenital heart disease
- dyskinesis
- genetics
- heart failure
- left ventricular noncompaction
