Earing Michael G, Ackerman Michael J, O'Leary Patrick W
Departments of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
J Am Soc Echocardiogr. 2003 Jun;16(6):698-702. doi: 10.1016/s0894-7317(03)00285-2.
Early identification of familial cases of hypertrophic cardiomyopathy (HCM) depends on screening echocardiography, but hypertrophy may not be the most sensitive marker for the disease. We report the echocardiographic findings of a family with HCM and a newly reported mutation in the gene (TPM1) encoding alpha-tropomyosin.Methods and results An 8-year-old girl had sudden cardiac death, and was found to have HCM and a novel L185R-TPM1 mutation on postmortem examination. Screening echocardiograms and DNA analyses were performed on her family. Of the 5 remaining family members, 3 were genetically affected. Those without the TPM1 mutation had normal echocardiographic results. The only echocardiographic finding that identified all 3 of the gene-positive family members was an abnormal left ventricular diastolic filling pattern.
Abnormal left ventricular diastolic filling patterns, indicating diastolic dysfunction, may provide an early marker for the diagnosis of familial HCM in children, even in the absence of left ventricular hypertrophy.
肥厚型心肌病（HCM）家族病例的早期识别依赖于超声心动图筛查，但肥厚可能并非该疾病最敏感的标志物。我们报告了一个患有HCM的家族的超声心动图检查结果以及在编码α-原肌球蛋白的基因（TPM1）中一个新报道的突变。
方法与结果 一名8岁女孩猝死，尸检发现患有HCM以及一种新的L185R-TPM1突变。对其家族进行了超声心动图筛查和DNA分析。在其余5名家族成员中，3名受基因影响。那些没有TPM1突变的家族成员超声心动图结果正常。识别出所有3名基因阳性家族成员的唯一超声心动图表现是左心室舒张期充盈模式异常。
提示舒张功能障碍的左心室舒张期充盈模式异常，可能为儿童家族性HCM的诊断提供早期标志物，即使在无左心室肥厚的情况下。
