A case report: Twin sisters with restrictive cardiomyopathy associated with rare mutations in the cardiac troponin I gene

Journal of Cardiology Cases - Tập 23 - Trang 154-157 - 2021
Michihiko Ueno1, Atsuhito Takeda1, Hirokuni Yamazawa1, Kohta Takei1, Takuo Furukawa1, Yasuto Suzuki2, Ayako Chida-Nagai1, Akinori Kimura3
1Department of Pediatrics and Developmental Medicine, Hokkaido University, Graduate School of Medicine, Sapporo, Hokkaido, Japan
2Department of Pediatrics, Kushiro Red Cross Hospital, Kushiro, Hokkaido, Japan
3Department of Molecular Pathogenesis, Medical Research Institute Tokyo Medical and Dental University, Tokyo, Japan

Tài liệu tham khảo

Webber, 2012, Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype. A report from the pediatric cardiomyopathy registry, Circulation, 126, 1237, 10.1161/CIRCULATIONAHA.112.104638 Otsuka, 2012, Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy, Circ J, 76, 453, 10.1253/circj.CJ-11-0876 Hayashi, 2018, Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy, J Hum Genet, 63, 989, 10.1038/s10038-018-0479-y Van Den Wijngaard, 2011, Recurrent and founder mutations in the Netherlands: cardiac troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy, Neth Heart J, 19, 344, 10.1007/s12471-011-0135-z Mogensen, 2003, Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations, J Clin Invest, 111, 209, 10.1172/JCI200316336 Rai, 2009, Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy, Mol Cell Biochem, 331, 187, 10.1007/s11010-009-0157-7 Fujino, 2018, The TNNI3 Arg192His mutation in a 13-year-old girl with left ventricular noncompaction, J Cardiol Cases, 18, 33, 10.1016/j.jccase.2018.04.001 Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology, Genet Med, 17, 405, 10.1038/gim.2015.30 Moon, 2005, Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I, Heart, 91, 1036, 10.1136/hrt.2004.041384 Yumoto, 2005, Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy, Biochem Biophys Res Commun, 338, 1519, 10.1016/j.bbrc.2005.10.116