hình ảnh học hcm và mối liên quan kiểu hình – kiểu gen

Đặc điểm hình ảnh HCM Phenotype clasification Maron BJ Am J Cardiol 1981;48:418–28 Echo research and practice, march 2015 Hypertrophic Cardiomyopathy Left Ventricular Hypertrophy ≥15 mm (echo, Asymmetric >> Symmetric) In the absence of another cardiovascular or systemic disease associated with LVH or myocardial wall thickening ACC/AHA Guidelines 20111 Phenotype clasification (functional) • Obstructive, nonobstructive HCM: LVOT obstruction • Wigle ED et al (1995): types – Subaortic obstruction – Midventricular obstruction – Cavity obliteration Parato et al Cardiovascular Ultrasound (2016) 14:30 Phenotype clasification: functional Midventricular obstruction Subaortic obstruction Cavity obliteration Echo research and practice, march 2015; Parato et al Cardiovascular Ultrasound (2016) 14:30 Septal contour (Syed IA et al) J Am Coll Cardiol Img 2008;1(3):377–9 Maron MS, Maron BJ J Am Coll Cardiol 2009;54:220–8; Bogaert J clinical CMR Springer 2012 Echo research and practice, march 2015; Maron BJ et al Lancet 381:242, 2013 Circ Cardiovasc Imaging 2017;10:e006066 HCMR trial (HCM registry) Am Heart J 2015 Aug; 170(2): 223–230 Kết luận • Kiểu hình HCM đa dạng • Những tiến non-invasive imaging (echo, CMR) giúp hiểu rõ biến đổi hình thái, chức HCM: phân tầng nguy cơ, điều trị • Mối quan hệ kiểu hình – kiểu gen: khơng tiên đốn kiểu hình dựa kiểu gen THANK YOU! Athlete’s heart • 13-15 mm: “grey zone.” • Parameters favoring physiologic athlete’s heart: – regression of LV wall thickness by serial CMR studies after a short (4- to 6-week) period of deconditioning – enlarged LV cavity size to more than 55 mm – SAM and/or LVOT obstruction are not evident • HCM – unusual distribution of LVH, – small LV cavity size< 45 mm, – marked LA dilatation JACC 2011; 58: e212 ACC/AHA Guidelines cardiac sarcomere Midcavity muscular obstruction Bogaert J, et al clinical CMR Springer 2012 LV function • LV cavity LVEF bình thường, hyperdynamic • Diastolic dysfunction: 80% HCM – Diastolic parameters không tương quan chặt với invasive LV filling pressure – Strain parameters (speckle tracking) (longitudinal giảm, circumferential tăng) disarray, fibrosis→ nguy loạn nhịp Nishimura RA; J Am Col Cardiol 1996 (28) 1226–1233 Urbano-Moral JA, Circulation Cardiovascular Imaging 2014 (7) 11–19 RV • RV wall thickness, mass: tăng (1/3 HCM), lan tỏa khu trú, RVOT obstruction gặp MaronMS, American Journal of Cardiology 2007(100) 1293–1298 Malik R, Echocardiography 2014 (31) 682–685 Genotype (+) – Phenotype (-) Maron BJ, et al: Onset of apical hypertrophic cardiomyopathy in adulthood Am J Cardiol 108:1783, 2011 Bogaert J, et al clinical CMR Springer 2012 ... trụ – Cơ trụ lệch chỗ, bifid PM – Cơ trụ trước bên nối trực tiếp vào MV – LV apical–basal muscle bands Maron MS et al Circulation 2011,124:4 0–4 7 Mối liên quan kiểu gen – kiểu hình (genotype –. .. • Ng cứu genotype – phenotype correlation (+): – Ko et al: Arg453→Cys mutation MYH7: tăng tỉ lệ suy tim giai đoạn cuối (burn-out) tử vong sớm – Lopes et al: HCM genotype (+) vs HCM genotype (-):... cao – Richard et al: HCM với ≥ vị trí mutation (6/124bn): kiểu hình nặng vị trí mutation Ko YL Hum Genet.1996;97:58 5–5 90 Lopes LR Heart 2013;99:180 0–1 811 Lopes LR, et al Heart 2015;101:29 4–3 01