Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.
Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.
复制标题
肌瘤突变阴性肥厚性心肌病与衰老和肥胖有关。
DOI：
10.1136/openhrt-2020-001560
复制
发表时间：
2021-03
期刊：
影响因子：
2.7
通讯作者：
Becker JR
中科院分区：
文献类型：
--
作者：
de Feria AE;Kott AE;Becker JR
尽管我们对肥厚型心肌病（HCM）的遗传原因有了进一步的了解，但在筛查时，大部分患者并不携带肌节基因突变。没有肌节突变的患者发生不对称性心肌肥厚的原因仍不清楚。我们对HCM先证者进行了回顾性分析，这些先证者进行了基因检测，以确定临床表型是否因肌节突变状态而不同。对127例HCM先证者进行病史、三代家族史和临床表型分析。使用临床可用的HCM基因检测板进行基因筛查。我们发现具有致病性肌节突变的HCM先证者有HCM家族史的可能性超过3倍（66%对17%，p<0.0001），并且在更年轻的年龄被诊断为HCM（32岁对51岁，p<0.0001）。相比之下，无肌节突变的HCM先证者明显更肥胖（体表面积p=0.003，体重指数p=0.04，经年龄校正），更可能出现左心室流出道梗阻（p=0.0483）。与肌节突变阳性的HCM患者相比，肌节突变阴性的HCM患者年龄更大，更肥胖。老龄化和肥胖在不对称性心肌肥厚中的作用值得进一步研究。
Despite advances in our understanding of the genetic causes of hypertrophic cardiomyopathy (HCM), a large portion of this patient population do not carry sarcomere gene mutations when screened. It remains largely unknown why patients without sarcomere mutations develop asymmetric myocardial hypertrophy. We performed a retrospective analysis of probands with HCM who underwent genetic testing to determine if clinical phenotypes were different depending on sarcomere mutation status. A medical history, three generation family history and clinical phenotyping were performed on 127 probands with HCM. Genetic screening was performed using clinically available HCM genetic testing panels. We found that probands with HCM with pathogenic sarcomere mutations were over three times more likely to have a family history of HCM (66% vs 17%, p<0.0001) and were diagnosed with HCM at a much younger age (32 vs 51 years old, p<0.0001). In contrast, probands with HCM without sarcomere mutations were significantly more obese (body surface area p=0.003, body mass index p=0.04 adjusted for age) and were more likely to present with left ventricular outflow tract obstruction (p=0.0483). Patients with sarcomere mutation negative HCM present at an older age and are more obese compared with patients with sarcomere mutation positive HCM. The role of ageing and obesity in asymmetric myocardial hypertrophy warrants further investigation.
登录
查看更多内容
影响因子：
37.8
作者：
Wong, CY;O'Moore-Sullivan, T;Marwick, TH
通讯作者：
Marwick, TH
影响因子：
8.8
作者：
Alfares, Ahmed A.;Kelly, Melissa A.;Rehm, Heidi L.
通讯作者：
Rehm, Heidi L.
影响因子：
37.8
作者：
MARON, BJ;GARDIN, JM;BILD, DE
通讯作者：
BILD, DE
影响因子：
15.9
作者：
Fatkin, D;McConnell, BK;Seidman, JG
通讯作者：
Seidman, JG
影响因子：
24
作者：
Olivotto, Iacopo;Maron, Barry J.;Maron, Martin S.
通讯作者：
Maron, Martin S.