| BNP和hsCRP检测对ICD植入患者的预后研究 |
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| 引用本文： | 鲍慧慧,李菊香,洪葵,程晓曙.BNP和hsCRP检测对ICD植入患者的预后研究[J].岭南心血管病杂志,2011(Z1):102-102. |
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| 作者姓名： | 鲍慧慧 李菊香 洪葵 程晓曙 |
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| 作者单位： | 南昌大学第二附属医院 |
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| 摘 要： | Objectives Phenotypic overlap of Brugada syndrome with type 3 long QT syndrome is observed in some carriers of mutations in the Na channel SCN5A.Concomitant-Brugada syndrome and 3 type long QT syndrome associated with sodium channel mutation was reported before,however, no data showed concomitant-Brugada type and short QT interval electrocardiogram(ECG) and revealed the associated-gene mutation.Methods The direct DNA sequence was conduced to find the mutation.The mutation was reproduced in vitro using site-directed mutagenesis and characterized using the patch clamp technique in the whole-cell configuration. Results The patient with the family history of sudden death showed Brugada and short QT interval ECG.Sequence of SCN5A identified a missense mutation,R689H,previously associated with a long QT syndrome.Biophysical study showed that the R689H failed to generate any current when heterolo-gously expressed in HEK cells.Conclusions Our findings indicate for the first time that coexisted- Brugada type and short QT interval ECG linked to the loss of function in SCN5A mutation.
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| 关 键 词： | 室性心动过速 恶性心律失常 肥厚性心肌病 患者 发作 术前 检测 术后 植入术 间期 |
Concomitant-Brugada and short QT ECG linked to SCN5A mutation |
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| Abstract: | Objectives Phenotypic overlap of Brugada syndrome with type 3 long QT syndrome is observed in some carriers of mutations in the Na channel SCN5A.Concomitant-Brugada syndrome and 3 type long QT syndrome associated with sodium channel mutation was reported before,however, no data showed concomitant-Brugada type and short QT interval electrocardiogram(ECG) and revealed the associated-gene mutation.Methods The direct DNA sequence was conduced to find the mutation.The mutation was reproduced in vitro using site-directed mutagenesis and characterized using the patch clamp technique in the whole-cell configuration. Results The patient with the family history of sudden death showed Brugada and short QT interval ECG.Sequence of SCN5A identified a missense mutation,R689H,previously associated with a long QT syndrome.Biophysical study showed that the R689H failed to generate any current when heterolo-gously expressed in HEK cells.Conclusions Our findings indicate for the first time that coexisted- Brugada type and short QT interval ECG linked to the loss of function in SCN5A mutation. |
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