一例法布里病复合杂合子患者的进行性心脏受累：病例报告
Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report.
作者信息
McConnell Eliza Jeanette, Every James, Tchan Michel, Kozor Rebecca
机构信息
Cardiology Department, Royal North Shore Hospital, Sydney, Australia.
Sydney Medical School, University of Sydney, Sydney, Australia.
出版信息
Eur Heart J Case Rep. 2018 Dec 7;2(4):yty122. doi: 10.1093/ehjcr/yty122. eCollection 2018 Dec.
BACKGROUND
Fabry disease is an X-linked lysosomal storage disorder due to mutations in the gene encoding for alpha-galactosidase A, with subsequent accumulation of complex sphingolipids in multiple organs, including the heart. Female heterozygotes can develop cardiac involvement although this is usually milder and slower to progress compared with male hemizygotes.
CASE SUMMARY
A 71-year-old woman with two separate pathological Fabry mutations (N215S, C202R; compound heterozygote) presented with progressive cardiac involvement despite enzyme replacement therapy (ERT) with Replagal, as demonstrated by troponin elevation and cardiovascular magnetic resonance (CMR) findings: moderate segmental left ventricular dysfunction with wall thinning, low myocardial native T1, and extensive late gadolinium enhancement with co-located increased T2.
DISCUSSION
We report for the first time, a detailed cardiac phenotype using CMR in a compound heterozygote Fabry patient with progressive cardiac involvement despite ERT.
背景
法布里病是一种X连锁溶酶体贮积症，由编码α-半乳糖苷酶A的基因突变引起，导致复合鞘脂在包括心脏在内的多个器官中蓄积。女性杂合子可出现心脏受累，尽管与男性半合子相比，通常症状较轻且进展较慢。
病例摘要
一名71岁女性，携带两种不同的法布里病病理突变（N215S、C202R；复合杂合子），尽管接受了Replagal酶替代疗法（ERT），仍出现进行性心脏受累，肌钙蛋白升高和心血管磁共振（CMR）检查结果证实了这一点：中度节段性左心室功能障碍伴室壁变薄、心肌固有T1降低、广泛的钆延迟强化以及T2同时升高。
讨论
我们首次报告了一名复合杂合子法布里病患者尽管接受了ERT但仍出现进行性心脏受累，通过CMR详细描述了其心脏表型。
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