Cardiology Department, Barts Heart Centre, London, United Kingdom (S.N., A.A.-G., K.M.-M., S.R., G.C., J.C.M.).
Institute of Cardiovascular Science, University College London, United Kingdom (S.N., A.A.-G., K.M.-M., G.C., J.C.M.).
Circ Cardiovasc Imaging. 2018 Jun;11(6):e007168. doi: 10.1161/CIRCIMAGING.117.007168.
Fabry disease (FD) is a rare and treatable X-linked lysosomal storage disorder. Cardiac involvement determines outcomes; therefore, detecting early changes is important. Native T1 by cardiovascular magnetic resonance is low, reflecting sphingolipid storage. Early phenotype development is familiar in hypertrophic cardiomyopathy but unexplored in FD. We explored the prehypertrophic cardiac phenotype of FD and the role of storage.
A prospective, international multicenter observational study of 100 left ventricular hypertrophy-negative FD patients (mean age: 39±15 years; 19% male) and 35 age- and sex-matched healthy volunteers (mean age: 40±14 years; 25% male) who underwent cardiovascular magnetic resonance, including native T1 and late gadolinium enhancement, and 12-lead ECG. In FD, 41% had a low native T1 using a single septal region of interest, but this increased to 59% using a second slice because early native T1 lowering was patchy. ECG abnormalities were present in 41% and twice as common with low native T1 (53% versus 24%; =0.005). When native T1 was low, left ventricular maximum wall thickness, indexed mass, and ejection fraction were higher (maximum wall thickness 9±1.5 versus 8±1.4 mm, <0.005; indexed left ventricular mass 63±10 versus 58±9 g/m, <0.05; and left ventricular ejection fraction 73±8% versus 69±7%, <0.01). Late gadolinium enhancement was more likely when native T1 was low (27% versus 6%; =0.01). FD had higher maximal apical fractal dimensions compared with healthy volunteers (1.27±0.06 versus 1.24±0.04; <0.005) and longer anterior mitral valve leaflets (23±2 mm versus 21±3 mm; <0.005).
There is a detectable prehypertrophic phenotype in FD consisting of storage (low native T1), structural, functional, and ECG changes.
法布里病（FD）是一种罕见的可治疗的 X 连锁溶酶体贮积症。心脏受累决定了预后，因此，早期发现变化很重要。心血管磁共振的心肌 T1 弛豫时间（native T1）值较低，反映了鞘脂的贮积。肥厚型心肌病的早期表型已广为人知，但 FD 中的表型发展尚不清楚。我们探讨了 FD 的心肌肥厚前表型以及贮积的作用。
一项前瞻性、国际性多中心观察研究纳入了 100 例左心室肥厚阴性 FD 患者（平均年龄：39±15 岁；19%为男性）和 35 名年龄和性别匹配的健康志愿者（平均年龄：40±14 岁；25%为男性），他们接受了心血管磁共振检查，包括 native T1 和钆延迟增强，以及 12 导联心电图。FD 患者中，41%的人使用单个室间隔感兴趣区的 native T1 值较低，但使用第二张切片时，这一比例增加到 59%，因为早期 native T1 值降低呈斑片状。41%的患者存在心电图异常，而 native T1 值较低时更为常见（53%与 24%；=0.005）。当 native T1 值较低时，左心室最大壁厚度、指数化质量和射血分数更高（最大壁厚度 9±1.5 与 8±1.4 mm，<0.005；指数化左心室质量 63±10 与 58±9 g/m，<0.05；左心室射血分数 73±8%与 69±7%，<0.01）。当 native T1 值较低时，更可能出现钆延迟增强（27%与 6%；=0.01）。FD 患者的最大心尖分形维数高于健康志愿者（1.27±0.06 与 1.24±0.04；<0.005），且前二尖瓣瓣叶较长（23±2 mm 与 21±3 mm；<0.005）。
FD 存在可检测到的心肌肥厚前表型，包括贮积（native T1 值较低）、结构、功能和心电图变化。
