[SCD-FORUM] 37E 患有肥厚性心肌病的年轻妇女？——Asenjo 博士

[SCD Symposium]

37E 患有肥厚性心肌病的年轻妇女？——Asenjo 博士

我要介绍一例临床病例。病人是一个30岁的妇女，有 
非梗阻型肥厚性心肌病的家族史，基因研究发现位于 
1号染色体的肌钙蛋白T（TNT）基因突变。突变位点是 
Arg92Gln。四个表兄妹20岁不到就猝死了，一个45岁的阿 
姨也猝死。她的妈妈和另外三个表兄妹因为家族史以 
及超声显示存在明显的肥厚性心肌病而置入ICD。另一 
个阿姨和一个表兄也因为晕厥和明显的肥厚性心肌病 
置入了ICD。
现在这个病人尚未出现症状，心电图显示在V1-V3导联T 
波倒置（几年前无此改变），以前正常的超声也出现 
变化，显示左房轻度增大，室间隔为12-13mm轻度增 
厚，外形未见异常，没有梗阻。MRI检查与心超相似， 
显示室间隔外形正常但厚度是13mm。24小时动态心电图 
及运动试验均未见心律失常。
患者现在服用阿替洛尔，我们想讨论一下这个病例现 
在置入ICD是否合理。
除此之外，想听听你们对于这个家系的年轻成员的意 
见。有的小孩和年轻人心超明显正常但是其一两个兄 
弟发生猝死或晕厥。他们是否也需要置入ICD？最后， 
家系中的成人和年纪较大的病人该如何处理？可能大 
多数心超可显示明显的心肌肥厚性心肌病。单用阿替 
洛尔或胺碘酮治疗够吗？或者他们也需要置入ICD？
感谢你们的关注和建议。
真诚感谢
Rene Asenjo <reneasenjo at vtr.net>

--
Sergio Dubner 博士
科学委员会主席
Edgardo Schapachnik博士
组委会主席


37E Young woman with HCM? Dr. Asenjo
I write to you to introduce a clinical case. This patient is a 30
year old woman, with a family history of non obstructive HCM with
genetic study that found a mutation in the Troponin T gene (TNT)
located in chromosome 1. The mutation is Arg92Gln. Four cousins under
20 have suffered sudden death and one 45 year old aunt has also
suffered sudden death. Her mother and 3 other cousins have a ICD
because of  the family history and evident HCM in Echo. Another aunt
and one cousin also have a ICD because syncope and evident HCM.

Currently this  patient has not presented symptoms and the EKG shows
a negative T wave in V1-V3 ( not present years ago), and the
previously normal Echo has changed, and now shows a mild enlargement
of left atrium and mild  mid septum thickening of 12- 13 mm, with no
abnormal aspect and no obstruction. MRI is similar to the Echo, and
shows normal aspect of septum but thickness is 13mm. No arrhythmias
during 24 hrs Holter nor exercise testing.

She is on atenolol but we would like to have your input in this case
on whether this justifies a ICD now.

Besides, we would like to know your opinion about young members of
this family. There are children and young persons with apparently
normal Echo but they have one or two brothers with sudden death or
syncope. ¿Do you think they also need a ICD? Finally, what about the
adult and older members of this family? Probably most  have an
evident HCM in Echo. Would it be enough with atenolol or with
amiodarore alone, or do they also need a ICD?.

We appreciate and thank you for your time and suggestions.

Most Sincerely

Rene Asenjo <reneasenjo at vtr.net
--
Dr. Sergio Dubner
President of Scientific Committee

Dr. Edgardo Schapachnik
President of Steering Committee