Moon James C C, Sachdev Bhavesh, Elkington Andrew G, McKenna William J, Mehta Atul, Pennell Dudley J, Leed Philip J, Elliott Perry M
Centre for Advanced Magnetic Resonance in Cardiology (CAMRIC), Royal Brompton Hospital, London, UK.
Eur Heart J. 2003 Dec;24(23):2151-5. doi: 10.1016/j.ehj.2003.09.017.
Anderson-Fabry Disease (AFD), an X-linked disorder of sphingolipid metabolism, is a cause of idiopathic left ventricular hypertrophy but the mechanism of hypertrophy is poorly understood. Gadolinium enhanced cardiovascular magnetic resonance can detect focal myocardial fibrosis. We hypothesised that hyperenhancement would be present in AFD.
Eighteen males (mean 43+/-14 years) and eight female heterozygotes (mean 48+/-12 years) with AFD underwent cine and late gadolinium cardiovascular magnetic resonance. Nine male (50%) had myocardial hyperenhancement ranging from 3.4% to 20.6% (mean 7.7+/-5.7%) of total myocardium; in males, percentage hyperenhancement related to LV mass index (r=0.78, P=0.0002) but not to ejection fraction or left ventricular volumes. Lesser hyperenhancement was also found in four (50%) heterozygous females (mean 4.6%). In 12 (92%) patients with abnormal gadolinium uptake, hyperenhancement occurred in the basal infero-lateral wall where, unlike myocardial infarction, it was not sub-endocardial. In two male patients with severe LVH (left ventricular hypertrophy) and systolic impairment there was additional hyperenhancement in other myocardial segments.
These observations suggests that myocardial fibrosis occurs in AFD and may contribute to the hypertrophy and the natural history of the disease.
安德森-法布里病（AFD）是一种X连锁的鞘脂代谢紊乱疾病，是特发性左心室肥厚的一个病因，但肥厚机制尚不清楚。钆增强心血管磁共振可检测局灶性心肌纤维化。我们推测AFD中会出现强化增强。
18例男性（平均43±14岁）和8例女性杂合子（平均48±12岁）AFD患者接受了电影和延迟钆心血管磁共振检查。9例男性（50%）出现心肌强化增强，范围为全心肌的3.4%至20.6%（平均7.7±5.7%）；在男性中，强化增强百分比与左心室质量指数相关（r = 0.78，P = 0.0002），但与射血分数或左心室容积无关。在4例（50%）杂合子女性中也发现了较小程度的强化增强（平均4.6%）。在12例（92%）钆摄取异常的患者中，强化增强出现在基底下侧壁，与心肌梗死不同，此处不是心内膜下强化增强。在2例严重左心室肥厚（LVH）和收缩功能受损的男性患者中，其他心肌节段也有额外的强化增强。
这些观察结果表明AFD中存在心肌纤维化，可能导致肥厚及疾病的自然病程。
