PDF(Pubmed)
Abstract：
OBJECTIVE: To analyze the clinical and genetic characteristics of a patient with long QT syndrome type 14 (long QT syndrome-14, LQT14, OMIM # 616247) caused by a de novo CALM1 mutation.
METHODS: The clinical data of the patient were collected, next-generation sequencing technology was used to determine the exome gene sequence of the patient, and the suspected pathogenic locus was verified by Sanger sequencing.
RESULTS: A 5-year and 9-month-old girl was admitted to the hospital due to a syncopal episode. During the attack, the main symptoms were loss of consciousness, cyanosis of the face and lips, and weakness of limbs. The child had multiple seizures in the past, all of which occurred after emotional excitement and activity. She was diagnosed with epilepsy for more than 3 years, but the effect of antiepileptic treatment was not satisfactory. The electrocardiogram was normal in the past. A month ago, convulsions occurred again after exercise, and the electrocardiogram showed QTc 496 ms. The treadmill test showed a significant prolongation of QTc after exercise, and the genetic results suggested a new heterozygous variant of CALM1, c.395A>G; p. (Asp132Gly). Consequently, she was diagnosed with LQT14 and treated with propranolol. During a follow-up of 15 months, there were no seizures or syncope.
CONCLUSIONS: This patient had multiple episodes of convulsions or syncope after emotional stimulation or activity, with intermittent prolongation of the QTc on routine ECG, marked prolongation of the QTc after exercise, and T-wave alternans, which differed from the LQT14 phenotype caused by the previous CALM1 mutation.
METHODS: The clinical data of the patient were collected, next-generation sequencing technology was used to determine the exome gene sequence of the patient, and the suspected pathogenic locus was verified by Sanger sequencing.
RESULTS: A 5-year and 9-month-old girl was admitted to the hospital due to a syncopal episode. During the attack, the main symptoms were loss of consciousness, cyanosis of the face and lips, and weakness of limbs. The child had multiple seizures in the past, all of which occurred after emotional excitement and activity. She was diagnosed with epilepsy for more than 3 years, but the effect of antiepileptic treatment was not satisfactory. The electrocardiogram was normal in the past. A month ago, convulsions occurred again after exercise, and the electrocardiogram showed QTc 496 ms. The treadmill test showed a significant prolongation of QTc after exercise, and the genetic results suggested a new heterozygous variant of CALM1, c.395A>G; p. (Asp132Gly). Consequently, she was diagnosed with LQT14 and treated with propranolol. During a follow-up of 15 months, there were no seizures or syncope.
CONCLUSIONS: This patient had multiple episodes of convulsions or syncope after emotional stimulation or activity, with intermittent prolongation of the QTc on routine ECG, marked prolongation of the QTc after exercise, and T-wave alternans, which differed from the LQT14 phenotype caused by the previous CALM1 mutation.
摘要：
目的：分析1例由新发CALM1突变引起的14型长QT综合征（长QT综合征-14，LQT14，OMIM#616247）患者的临床和遗传特征。
方法：收集患者的临床资料，下一代测序技术用于确定患者的外显子组基因序列，并通过Sanger测序验证了可疑的致病位点。
结果：一名5岁9个月大的女孩因晕厥发作入院。在袭击期间,主要症状是意识丧失,脸和嘴唇发紫，四肢无力。这个孩子过去有多次癫痫发作，所有这些都发生在情绪激动和活动之后。她被诊断为癫痫超过3年,但抗癫痫治疗效果不理想。过去心电图正常。一个月前,运动后再次出现抽搐,心电图QTc496ms。跑步机测试表明运动后QTc明显延长，遗传结果提示CALM1的一个新的杂合变异体,c.395A>G;p.(Asp132Gly)。因此,她被诊断为LQT14,并接受了普萘洛尔治疗.在15个月的随访中，没有癫痫发作或晕厥。
结论：该患者在情绪刺激或活动后出现多次抽搐或晕厥，随着常规心电图上QTc的间歇性延长，运动后QTc明显延长，还有T波交替,这与以前的CALM1突变引起的LQT14表型不同。
方法：收集患者的临床资料，下一代测序技术用于确定患者的外显子组基因序列，并通过Sanger测序验证了可疑的致病位点。
结果：一名5岁9个月大的女孩因晕厥发作入院。在袭击期间,主要症状是意识丧失,脸和嘴唇发紫，四肢无力。这个孩子过去有多次癫痫发作，所有这些都发生在情绪激动和活动之后。她被诊断为癫痫超过3年,但抗癫痫治疗效果不理想。过去心电图正常。一个月前,运动后再次出现抽搐,心电图QTc496ms。跑步机测试表明运动后QTc明显延长，遗传结果提示CALM1的一个新的杂合变异体,c.395A>G;p.(Asp132Gly)。因此,她被诊断为LQT14,并接受了普萘洛尔治疗.在15个月的随访中，没有癫痫发作或晕厥。
结论：该患者在情绪刺激或活动后出现多次抽搐或晕厥，随着常规心电图上QTc的间歇性延长，运动后QTc明显延长，还有T波交替,这与以前的CALM1突变引起的LQT14表型不同。
