[SCD-FORUM] 27E RE:一例长QT综合征患儿 --Furlani博士

[SCD Symposium]

27E RE:一例长QT综合征患儿 --Furlani博士

尊敬的Haghjoo博士：
这是个很有难度的病例，听上去象Jervell and Lange- 
Nielsen（JLN）综合征。而且这个病人只有5岁，难度更 
大。至今尚无理想的治疗策略。
Peter Schwartz博士以及国际LQTS注册小组已经帮助我们逐 
渐了解这种致命性疾病，学习如何处理这类病例，但 
还有很长的路要走。
此病例症状早发，有先天性耳聋、QT严重延长（超过 
500ms），对β受体阻滞剂治疗无反应或反应低下，上 
述这些都是心源性猝死的高危因素。另一方面，正如 
你在邮件中指出的，儿童植入ICD会导致重要的并发 
症，这都应该在选择治疗时考虑到。
对于处理这个病例，我考虑以下几种不同的方法：
1）         增加普萘洛尔的剂量（或改为纳多洛尔1 mg/ 
kg/天）即使存在轻度窦性心动过缓。在这个病例，只 
要没有症状或仅有轻微症状，心率最低可以降到40次/ 
分。
2）         左侧心脏交感神经节切除术加上纳多洛尔1  
mg/kg/d。
3）         如果上述二种方法治疗后仍有晕厥发作， 
就需植入埋藏式心脏复律除颤器（ICD）。
4）         当然，所有上述可行的治疗都必须包括限 
制体力活动，因为这类病人通常在锻炼和游泳过程中 
猝死，这是非常危险的。
基因分型对于这个病例并不是很有用，因为大部分JLN 
综合征患者存在KvLQT1 (LQT1)  和 KCNE1 (LQT5)基因型异 
常。希望在将来基因治疗能成为治愈这类病例的首选 
方法。

致谢
问候各位
Aldo Alberto Furlani 博士
心脏电生理学家
心脏病学顾问
Caribbean心脏研究中心
Mandeville
Jamaica
afurlani at caribbeanheart.com
www.caribbeanheart.com
——
Sergio Dubner 博士
科学委员会主席
Edgardo Schapachnik 博士
组委会主席


27E RE: A children with LQTS. Dr. Furlani

Dear Dr Haghjoo:
This a difficult case, which sounds like Jervell and Lange-Nielsen
Syndrome. The patient is a 5 years old kid what makes this case even
more difficult. No perfect options/treatment strategies are available
in dealing with patient yet.

Dr Peter Schwartz and the international registry for LQTS have helped
us to start to understand this life threatening disease and learn how
to manage this patients, but there is still a long way to go.

In this case, the early onset of the symptoms, presence of congenital
deafness, severity of QT prolongation (over 500 msecs), and lack of
response (or parcial response) to beta-blocker therapy, are all
markers of high risk for SCD. On the other hand, as you pointed out
in your e-mail, ICD implantation in children is associated with
important colateral problems, which should be kept in mind in
considering this therapeutic option.

Different options come to my mind in dealing with this patient:
1) Increase the dosage of propranolol (or change it for 1 mg/Kg of
Nadolol Die) even in the presence of mild bradycardia. In this
patients we can tolerate until 40 bpm while they are asymptomatic or
mildly symptomatic.
2) Left cardiac sympathetic denervation plus Nadolol 1 mg/Kg Die.
3) ICD implantation if the patient has another episode of syncope
after option 2.
4) Of course, all viable options have to include limitation of
physical activity since this patients usually die while exercising
and swimming is particularly hazardous.
Genotyping the patient is not so useful in this case since most of
the JLN patients have KvLQT1 (LQT1)  and KCNE1 (LQT5) abnormalities.
Hopefully, in the future gene therapy will be the first therapeutic
option to actually cure these patients.
Thank you.
My best regards for everybody,

Aldo Alberto Furlani MD
Cardiac electrophysiologist
Consultant Cardiologist
Heart Institute of the Caribbean
Mandeville
Jamaica
afurlani at caribbeanheart.com
www.caribbeanheart.com

--
Dr. Sergio Dubner
President of Scientific Committee

Dr. Edgardo Schapachnik
President of Steering Committee