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【medical-news】长QT间期综合征通常被过度诊断
(Reuters Health)
By Will Boggs, MD
NEW YORK (Reuters Health) - On second-opinion evaluation, a diagnosis of long-QT syndrome (LQTS) is confirmed in less than a third of cases, according to a report in the May 22nd issue of Circulation.
"This is a diagnosis that is critical to get right in both directions," Dr. Michael J. Ackerman from the Mayo Clinic College of Medicine, Rochester, Minnesota told Reuters Health. "There is a potentially lifesaving need to make the diagnosis of LQTS when it is there and equally significant to refrain from the diagnosis when the objective evidence is insufficient."
Dr. Ackerman and colleagues determined the agreement between the original diagnosis and the diagnosis made at an LQTS subspecialty clinic by reviewing the data for 176 patients referred to their clinic.
Only 27% of the referred patients were confirmed as having definite LQTS, 32% were diagnosed with possible LQTS, and 41% were found to have no LQTS, the results indicate.
By the time of their evaluation at the Mayo Clinic, nearly three quarters of the patients had already been recommended to receive or had begun specific intervention for LQTS, including almost two thirds who had begun beta-blocker therapy and 17 who had already received an implantable cardiac defibrillator. Five of these 17 patients ultimately were diagnosed as not having LQTS.
The most common explanation of the discordance between the initial diagnosis and the second-opinion diagnosis involved errors in deriving the corrected QT (QTc) interval, the investigators say.
"The discrepancy between the originally assessed QTc value and our recalculated QTc was most often attributable to erroneous U-wave inclusion in calculating the QTc," the researchers note.
Most patients with definite LQTS (78%) who underwent genetic testing proved to have an LQTS-causing mutation, the report indicates, as did 34% of patients with possible LQTS. None of the patients with no LQTS who underwent testing had an LQTS-causing mutation.
"The stakes are high and we have to get this diagnosis right," Dr. Ackerman said. "The accuracy is increased by meticulously eliciting the story, the personal history and family history, to establish the appropriate index of suspicion prior to ordering any tests. Then it comes down to a careful interpretation of the data, the ECG, the stress tests, etc."
"Making a correct diagnosis affects not only the patient but also the many family members who may carry the same gene mutation for LQTS," writes Dr. Victoria L. Vetter from Children's Hospital of Philadelphia, Pennsylvania in a related editorial. "Failure to make the correct diagnosis can result in a sudden cardiac arrest or death in the individual initially being evaluated or in family members." 本人申请，48小时后未翻译出，自动放弃 纽约（Reuters Health）根据5月22日循环杂志的一则报道，再次分析后少于三分之一的病例被确诊为长QT间期综合症。
"正确的诊断是很重要的"。Dr. Michael J. Ackerman from the Mayo Clinic College of Medicine, Rochester, Minnesota told Reuters Health。
“当长QT间期综合症确实存在时，明确的诊断是迫切需要的。而缺乏依据的诊断也同样需要被避免。”
Dr. Ackerman 和他的同事在初诊和回顾分析诊断为亚临床长QT间期综合症的176名患者中，结合他们的临床只有27%确诊为，32%可能为此症，而41%则不是的。
在Mayo Clinic作出此分析的同时，近四分之三的患者已经或者正开始接受针对长QT间期综合症的特殊治疗，包括多于三分之二的人服用ß阻剂，17个患者还植入心除颤器，而这17个人中有5人最终被诊断不是长QT间期综合症。
研究者说导致初诊与确诊不一致性的解释是错误测量了QT间期。
研究者注释“这种初测的QT间期和再计算后的QT间期不一致性多是因为把U波测算在内了。”
此报道提示大多数（78%）确诊为长QT间期综合症的患者接受基因测试，被证实有长QT间期综合症的基因突变。而34%可能为长QT间期综合症的患者此测试则无长QT间期综合症的基因突变。
Dr. Ackerman 说“因此我们要作出正确的诊断，在做任何检查之前谨慎的询问病史，个人史及家族史，对其疑点适当排序可以提高诊断的准确性。还要涉及到如何仔细阅读如心电图，平板运动等检查结果。”
Dr. Victoria L. Vetter from Children's Hospital of Philadelphia, Pennsylvania 的相关评论说“一个正确的诊断不仅对患者而且对携带长QT间期综合症相关基因的家族成员都是很重要的。而错误的诊断则会导致这些人出现心脏猝停和死亡。” 个人觉得楼上翻译有些粗糙，漏掉了一些关键点。所以做了一些调整，欢迎指正。
NEW YORK (Reuters Health) - On second-opinion evaluation, a diagnosis of long-QT syndrome (LQTS) is confirmed in less than a third of cases, according to a report in the May 22nd issue of Circulation.
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作者:admin@医学,生命科学 2011-03-06 17:14
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