PDF(Pubmed)
Abstract：
Fabry disease, a well-known X-linked disorder, can present as an elusive late-stage disease in women with challenging limitations to management. Risk stratification of patient populations for genetic testing, early detection, and advances in affordable clinical treatment are on-going. We present a case to further demonstrate the need for continued research. Our case involved advanced complications, including worsening diastolic heart failure and conduction disorders ranging from supraventricular tachycardia to severe heart block. The patient received goal-directed medical therapy as tolerated for her heart failure and ultimately needed a dual-chamber pacemaker with a defibrillator.
摘要：
法布里病,一种众所周知的X连锁疾病，可以作为一种难以捉摸的晚期疾病出现在女性中，具有挑战性的管理限制。进行基因检测的患者人群的风险分层，早期发现,负担得起的临床治疗正在取得进展。我们提出了一个案例，以进一步证明需要继续研究。我们的病例涉及晚期并发症，包括恶化的舒张性心力衰竭和传导障碍，从室上性心动过速到严重的心脏传导阻滞。患者接受了目标导向的药物治疗，可以耐受心力衰竭，最终需要使用带除颤器的双腔起搏器。
