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Published byὙπατια Αποστόλου Modified over 6 years ago
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Figure 1 Cine cardiovascular magnetic resonance (CMR)
images of hypertrophic cardiomyopathy (HCM) cases with TNNI3 mutations Figure 1 | Cine cardiovascular magnetic resonance (CMR) images of hypertrophic cardiomyopathy (HCM) cases with TNNI3 mutations. The spectrum of TNNI3 disease offers a window on the diverse structural and functional abnormalities recognized in HCM, including: a | asymmetrical anteroseptal hypertrophy (Arg162Gln); b | apical hypertrophy (Arg162Gln); c | midcavity obstruction (Arg145Trp); d | severe biventricular hypertrophy (homozygous Arg141Gln mutation); and e | end-stage hypertrophy (Arg186Gln). f | In some families, individuals with the same mutation in TNNI3 can develop either HCM or a restrictive picture. These images show restrictive cardiomyopathy in a child aged 6 years from a de novo mutation in TNNI3 (Lys178Glu). LA, left atrium; LV, left ventricular; RA, right atrium; RV, right ventricular. Reprinted from Mogensen, J. et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 44, 2315–2325 © (2004), with permission from Elsevier. Reprinted from Mogensen, J. et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 44, 2315–2325 © (2004), with permission from Elsevier Sen-Chowdhry, S. et al. (2016) Update on hypertrophic cardiomyopathy and a guide to the guidelines Nat. Rev. Cardiol. doi: /nrcardio
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