以心血管疾病就诊的先天代谢性疾病

Congenital metabolic diseases with cardiovascular diseases

在心血管疾病患儿接诊中,先天代谢性疾病并不罕见,当患儿首诊为心肌病、心律失常、心肌酶谱异常、瓣膜病、先天性心脏病、肺高血压、高血压等疾病时都需要鉴别是否存在先天代谢性疾病的病因。这些患儿的心脏疾病往往具有一定特点,或进展更为迅速,伴多器官系统受累。在治疗心血管疾病的同时针对先天代谢性疾病予以有效治疗是改善疾病预后的关键。

Congenital metabolic diseases are not uncommon in cardiovascular disease.When children are first diagnosed with cardiomyopathy,arrhythmia,abnormal myocardial enzymes,valve disease,congenital heart disease,pulmonary hypertension,blood pressure and so on,it is necessary to identify whether they are with some inborn metabolic diseases.The heart disease of these children often has certain characteristics,progresses more rapidly,or is with multiple organ system involvement.In the treatment of cardiovascular diseases,effective treatment for inborn metabolic diseases is the key to improving the prognosis of the disease.