■Danon病(DD)是一种罕见的X连锁疾病,由于溶酶体相关膜蛋白2基因的突变。它的特点是肥厚型心肌病的临床三联征,骨骼肌病,和不同程度的智力残疾。
■在这种情况下,我们描述了一位受DD影响的母亲和她的儿子,尽管预期与性别相关的变异性,但强调一致的临床严重程度。母亲(病例1)表现为孤立的心脏受累,具有心律失常表型,演变成需要心脏移植(HT)的严重心力衰竭。在此事件发生后1年诊断为Danon病。她的儿子(病例2)表现出早期症状,完全房室传导阻滞和心脏病进展迅速。临床表现后2年确定诊断。他目前被列入HT名单。
■在我们的两个患者中,诊断延迟非常长,本可以通过强调相关临床危险信号来避免.受DD影响的患者可能在自然史上呈现临床异质性,发病年龄,心脏和心外受累,即使在同一个家庭。表型性别差异可能影响的早期诊断是治疗DD患者的关键因素。考虑到心脏病的快速进展和不良预后,早期诊断很重要,随访期间必须密切监测.
UNASSIGNED: Danon disease (DD) is a rare X-linked disorder due to mutations in the lysosome-associated membrane protein 2 gene. It is characterized by a clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and a variable degree of intellectual disability.
UNASSIGNED: In this
case series, we describe a mother and her son affected by DD, highlighting consistent clinical severity despite the expected variability related to gender. The mother (
Case 1) presented isolated cardiac involvement, with an arrhythmogenic phenotype that evolved into severe heart failure requiring heart transplantation (HT). Danon disease was diagnosed 1 year after this event. Her son (
Case 2) showed an earlier age onset of symptoms with complete atrioventricular block and fast progression of cardiac disease. Diagnosis was established 2 years after clinical presentation. He is currently listed for HT.
UNASSIGNED: In both of our patients, diagnostic delay was extremely long and could have been avoided by emphasizing the relevant clinical red flags. Patients affected by DD may present clinical heterogeneity in terms of natural history, age of onset, and cardiac and extracardiac involvement, even in the same family. Early diagnosis that phenotypic sex differences may impact is a crucial factor in managing patients with DD. Considering the rapid progression of cardiac disease and the poor prognosis, early diagnosis is important and close surveillance should be mandatory during follow-up.