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目的:对1例肥厚型心肌病家族进行筛查,并初步探讨外周血中相关指标的测定在家族性肥厚型心肌病(HCM)患者中的临床意义。方法:对发现的肥厚型心肌病家系中所有成员49人,均行超声心动图检查和外周血相关指标的测定。观察该家系HCM患者的特点及外周血相关指标的临床意义。结果:该家系中共发现6例患者,其中男性2例,女性4例。以左心室后壁肥厚,室间隔肥厚以中段为著,基底段不明显,左心室流出道无梗阻,随年龄增大左心房扩大。HCM患者组外周血相关指标中仅心肌肌钙蛋白I(cardiac troponin I,cTnI)水平明显高于健康成员组〔(0.04±0.01)μg/L比(0.005±0.001)μg/L,P<0.01)〕。结论:HCM患者的血浆cTnI水平异常升高可能与cTnI基因突变有关,对无心肌梗死的人群筛查是否患有肥厚型心肌病可能具有一定的临床意义。
Objective: To screen a family of patients with hypertrophic cardiomyopathy and to explore the clinical significance of the determination of related indicators in peripheral blood in patients with familial hypertrophic cardiomyopathy (HCM). Methods: All the 49 members of the family members of hypertrophic cardiomyopathy were detected by echocardiography and peripheral blood related indexes. To observe the characteristics of the family HCM patients and the clinical significance of peripheral blood related indicators. Results: Six Chinese patients were found in this pedigree, including 2 males and 4 females. To the left ventricular posterior wall hypertrophy, interventricular septal hypertrophy in the middle as a base segment is not obvious, left ventricular outflow tract obstruction, with increasing age, left atrial enlargement. The level of cardiac troponin I (cTnI) in peripheral blood of HCM patients was significantly higher than that of healthy controls (P <0.01, P <0.01) )]. Conclusion: The abnormal increase of plasma cTnI level in HCM patients may be related to the mutation of cTnI gene. It may be of clinical significance to screen hyperthyroid cardiomyopathy patients without myocardial infarction.