儿童左心室不致密性诊断1例

T.O. Kryuchko, S.M. Tanianska
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摘要

儿童心血管疾病是当今社会亟待解决的问题。根据最新的流行病学研究,在过去20-30年间,乌克兰儿童先天性心脏病增加了近3.2%。左心室非压实性心肌病是一种未分类的心肌病,发病率不确定。同时,根据文献,这种病理的特点是诊断较晚,死亡率很高。在该病的发病机制中,心肌在胚胎期发生结构变化,导致其发育异常。左心室非压实性被认为是一种遗传异质性疾病,它以常染色体显性模式遗传。本文通过对1例小儿左心室不压实症的临床诊断和治疗,向全科医生、儿科医生和小儿心脏科医生展示了一种罕见疾病的诊断和治疗算法,以便及早诊断,预防并发症,挽救患者的生命。该患者患有肺炎,在轻微体力消耗时出现呼吸困难和快速疲劳,由家庭医生及时转介给儿科心脏病专家咨询。实验室和仪器研究允许怀疑一种罕见的先天性心脏病-左心室不压实。随后,患者接受心脏病专家和心脏外科医生的定期检查,接受治疗方案,并在州移植登记处登记,以便等待随后成功的心脏移植手术供体。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical case of diagnosis of left ventricular non-compaction in a child
Diseases of cardiovascular system in children present an extremely urgent problem nowadays. According to the latest epidemiological studies, there has been an increase by almost 3.2 % in congenital heart disease in Ukrainian children over the past 20–30 years. Left ventricular non-compaction belongs to a group of unclassified cardiomyopathies with undetermined prevalence. At the same time, based on literature, this pathology is characterized by a late diagnosis and very high mortality. In the pathogenesis of the disease, structural changes in the myocardium occur during the embryonic stage, leading to its abnormal development. Left ventricular non-compaction is considered a genetically heterogenous disease, which is inherited in an autosomal dominant pattern. The article deals with a clinical case of diagnosis and management of a child with left ventricular non-compaction, which demonstrates to ge­neral practitioners, pediatricians, and pediatric cardiologists the algorithm for diagnosing and managing patients with a rare disease in order to make earlier diagnosis, prevent complications, and preserve patient’s life. The patient who has been suffered from pneumonia, complained of breathlessness and rapid fatigue during minor physical exertion was timely referred by the family doctor for consultation with a pediatric cardiologist. Laboratory and instrumental studies allowed to suspect a rare congenital heart disease — left ventricular non-compaction. Subsequently, the patient was regularly examined by cardiologists and cardiac surgeons, received protocol therapy, was registered in a state transplant registry, which allowed to wait for a donor with subsequent successful heart transplant surgery.
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