Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients

• DOI: 10.1016/j.ijcard.2021.06.042
• Publication Date: 2021-07-21T17:23:18Z
• Authors: Atsuko Imai-Okazaki; Ayako Matsunaga; Yukiko Yatsuka; Kazuhiro R. Nitta; Yoshihito Kishita; Ayumu Sugiura; Yohei Sugiyama; Takuya Fushimi; Masaru Shimura; Keiko Ichimoto; Makiko Tajika; Minako Ogawa-Tomi...; Tomohiro Ebihara; Tetsuro Matsuhashi; Tomoko Tsuruoka; Masakazu Kohda; Tomoko Hirata; Hiroko Harashima; Shuko Nojiri; Atsuhito Takeda; Akihiro Nakaya; Shigetoyo Kogaki; Yasushi Sakata; Akira Ohtake; Kei Murayama; Yasushi Okazaki
• Keywords: Mitochondrial disease

Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with mitochondrial disease. However, other factors including genetic related to disease has yet be fully elucidated.Between January 2004 and September 2019, we enrolled 223 consecutive aged <18 years confirmed diagnosis, 114 nuclear gene mutations, 89 DNA (mtDNA) point 11 mtDNA single large-scale deletions 9 chromosomal aberrations. at baseline was observed 46 (21%). Hazard ratios (HR) 95% confidence intervals (CI) were calculated all-cause mortality. Over median follow-up of 36 months (12-77), there 85 deaths (38%). The overall survival rate significantly lower cardiomyopathy than those without (p < 0.001, log-rank test). By multivariable analysis, left ventricular (LV) hypertrophy (HR = 4.6; CI: 2.8-7.3), neonatal onset 2.9; 1.8-4.5) aberrations 1.3-6.5) independent predictors Patients LV and/or had higher mortality (100% 21 patients) alone (71% 14 patients).In disease, common (21%) associated increased hypertrophy, Prognosis particularly unfavorable if combined