Laurence-Moon-Biedl综合征并甲状腺功能减退一例

患者，女性，44岁，出生时即有多趾并趾畸形，自幼年起体形肥胖，有夜盲症，视物模糊，智力水平较同龄儿童差，1966年患者5岁时行两侧第6小脚趾切除术，1984年经眼底检查诊断为视网膜色素变性。1993年起视物模糊症状加重，读书、读报困难，1995年视力明显下降，仅有光感，此次因“发作性胸痛5年，加重伴双下肢浮肿10月”入院治疗。既往于1987年诊断甲状     

甲状腺功能减退致QT间期延长综合征并尖端扭转型室性心动过速2例

例1　患者,女,35岁。纳差、乏力、畏寒4年,晕厥2次。于1 997年产后大出血后渐起纳差、乏力、颜面水肿、畏寒,2 0 0 1年7月1 5日出现不明原因呕吐、晕厥2次,伴抽搐、小便失禁,持续约数分钟后自行终止。体检:BP 1 1 0 / 70mmHg( 1mmHg=0 .1 33kPa) ,毛发稀少,皮肤干燥无弹性,颜面及眼睑水肿,两肺( - ) ,心界不大,HR 64次/min ,律不齐,无杂音。腹平软,双下肢不肿。急诊心电图为窦性心律,多发室性期前收缩时呈短阵室性心动过速(室速) (Q T :0 .5 6s) ,血钾3.5 3mmol/L( 3.5～5 .5mmol/L) ,入院后3h患者突然出现意识丧失、抽搐、小便失禁,心…     

甲状腺功能减退误诊为病毒性心肌炎一例

患者男 ,2 3岁 ,因全身乏力、眼睑浮肿 3个月入院。 3个月前无明显诱因出现乏力 ,眼睑浮肿 ,伴食欲差 ,怕冷 ,大便秘结 ,精神倦怠 ,无其他不适。 2 0ｄ前曾有上呼吸道感染病史。在当地医院就诊 ,查血肌酸激酶 (ＣＫ) 30 17 0Ｕ/Ｌ ,肌酸激酶同工酶ＭＢ (ＣＫ ＭＢ) 6 0 9Ｕ/Ｌ ,乳酸脱氢酶 (ＬＤＨ )8 7μｍｏｌ·ｓ·Ｌ(5 2 4 0ＩＵ/Ｌ) ,天冬氨酸转氨酶 (ＡＳＴ) 14 6 0Ｕ/Ｌ ,肌酐 (Ｃｒ) 12 3 4 μｍｏｌ/Ｌ ,尿素氮 (ＢＵＮ) 5 6ｍｍｏｌ/Ｌ ,心电图示肢体导联ＱＲＳ低电压 ,Ｖ2 6导联Ｔ波低平。诊为“病毒性心肌炎” ,治疗 2个多…     

家族性长QT综合征1例

长QT间期综合征,指具有心电图(ECG)上QT间期延长、室性心律失常、晕厥和猝死的1组综合征。多数学者认为是遗传性疾病。本文报告1例如下。 患儿男,3岁。因发热伴粘液脓血便3d入院。临床诊断:急性细菌性痢疾。入院时体检:T37.4℃,心律较慢,54次min。肝、肾功能正常,电解质、心肌酶谱正常,全胸片、心脏超声等检查亦无异常。图示:窦性心律,频率53次/min,     

先天性长QT综合征心电图分析1例

患者女性、18岁，因“4h内突发晕厥3次”于2007年9月2日急诊入院。患者无器质性心脏病病史。入院查体：神志清，前额有5×2cm：皮肤擦伤，双肺呼吸音清，心界不大，各瓣膜听诊区无杂音。初步分析入院时心电图（图1A）：窦性心律，74bpm，QT／QTe700／752ms，V3-V6导联T波基底增宽，顶部变尖（似LQT1的T波改变），室性早搏。随后，患者情绪激动时，再次发作尖端扭转型室速（Tap），Tdp终止后，描记心电图（图1B）：窦性心律，103bpm，QT／QTc470／625ms，II、aVF、V2-V4导联可见明显双峰T波（箭头指示），频发室性早搏。     

甲状腺功能减退致肝功不良一例

患者男性,2 2岁,农民,平素身体健康。因乏力、纳差、反复肝功能不良2年求治。曾被诊断为“肝炎”,使用多种护肝、降酶药物治疗后ALT虽可恢复正常。但减药或停药后ALT又升高。如此反复达2年之久。体检:除双眼睑中度浮肿外无其他阳性体征。化验:肝功能TBil 11 5 μmol/L ,ALT 2 2 8U/L。血、尿常规、肾功能正常。甲乙丙丁戊肝炎病原学检查皆阴性。查血FT31 2 1pmol/L、FT4 5 8pmol/L、TSH4 2 1U/L ,先后检查三次均异常,肝脏B超未见异常,确诊为甲状腺功能减退,即给予甲状腺素片(国产)口服,3月后查FT3、FT4 正常,TSH也在正常范…     

特发性长QT间期综合征1例

患者,女,30岁.因反复发作晕厥1d,于2012年9月11日8时入院.患者1d前无明显诱因出现心悸、头晕、抽搐,之后晕厥,持续时间不详,伴小便失禁,清醒后无明显不适,不能回忆发病经过,由家人送入我院急诊科.查心电图:窦性心律,QT间期延长.入院当天凌晨3时及6时左右上述症状再发,每次持续约10 min.患者10余年前有1次晕厥发作病史,患者母亲猝死(死因不明).入院查体:神志清楚,心肺腹查体未见异常.病理征未引出.     

甲状腺功能减退致大量心包积液一例

患者,女,65岁,主因持续性胸闷、气短1年,夜间阵发性呼吸困难5个月,加重6天于2001年6月20日入院。入院前1年开始,无明显诱因觉胸闷、气短,呈持续性,活动后加重,日常生活能自理。5个月前自觉上述症状加重,出现夜间阵发性呼吸困难,并有少尿及全身浮肿,以双下肢为重,服用利尿剂症状可减轻,曾就诊于多家医院。近6天症状加重,夜间阵发性呼吸困难每晚发作2至3次,为此行胸透检查示“心包积液”。并以此收入院。自诉既往于14年前发现     

正确认识及处理遗传性和获得性长QT综合征

本期专家论坛的专题是遗传性和获得性长QT综合征的诊断和各种治疗方法的当今观点，相信，这一讨论还能提高读者对心电图学分子机制的理解和心脏性晕厥一心脏猝死的防治有重要意义。     

Congenital long QT syndrome: A case report

The congenital long QT syndrome (LQTS) is characterized by abnormally prolonged ventricular repolarization due to inherited defects in cardiac sodium and potassium channels, which predispose the patients to syncope, seizure like activity, ventricular arrhythmias, and sudden cardiac death. Early diagnosis and preventive treatment are instrumental in preventing sudden cardiac deaths in patients with the congenital LQTS. The diagnostic criteria for congenital LQTS are based on certain electrocardiographic findings, clinical findings and findings of epinephrine stress test. Recently genotype specific electrocardiographic pattern in the congenital LQTS has also been described. Recent studies suggest feasibility of genotype specific treatment of LQTS and, in near future, mutation specific treatment will probably become a novel approach to this potentially fatal syndrome. We describe one case that fulfilled the electrocardiographic, historical diagnostic criteria and epinephrine stress test suggestive of LQT syndrome.     

Inherited long QT syndrome

Inherited long QT syndrome (LQTS) is characterized by a prolonged ventricular repolarization (QTc interval) and symptoms (syncope, sudden cardiac arrest) due to polymorphic ventricular arrhythmias. As of today, 13 different cardiac ion channel genes have been associated with congenital LQTS. The most common ones are due to KCNQ1 (LQT-1), KCNH2 (LQT-2), and SCN5A (LQT-3) gene mutations and account for up to 75?% of cases. Typical clinical findings are an increased QT interval on the surface electrocardiogram, specifically altered T wave morphologies, polymorphic ventricular arrhythmias, or an indicative family history. Recently, in the HRS/EHRA expert consensus statement, comprehensive genetic testing of major LQTS genes was recommended for index patients for whom there is a strong clinical suspicion of LQTS. Overall, antiadrenergic therapy, in particular ??-receptor blockers, has been the mainstay of therapy and has significantly reduced cardiac events. For high-risk patients, an implantable cardioverter defibrillator (ICD) is recommended. Importantly, lifestyle modification and avoidance of arrhythmia triggers are additional important approaches.     

Torsade de pointes induced by terfenadine in a patient with long QT syndrome

Torsade de pointes is a form of polymorphic ventricular tachycardia that is associated with prolongation of the QT interval. Although torsade de pointes is found in many clinical settings, it is mostly drug induced. Similar problems have been described with nonsedating H₁-receptor antagonists, such as astemizole and terfenadine. Terfenadine is a widely used antihistamine. The authors report a case of torsade de pointes in a patient with a possible congenital sporadic form of QT interval prolongation who was receiving a therapeutic dose of terfenadine.     

Early afterdepolarizations induced by isoproterenol in patients with congenital long QT syndrome.

BACKGROUND. Several recent experimental and clinical studies have shown that early afterdepolarizations (EADs) are important in the genesis of QTU prolongation and ventricular tachyarrhythmias (VTs) in patients with long QT syndrome. On the other hand, sympathetic stimulation is well known to contribute to the genesis of QTU prolongation and VTs in patients with congenital long QT syndrome. The present study was performed to examine the influence of isoproterenol on the genesis of EADs and on the action potential durations and QTU intervals in patients with congenital long QT syndrome. METHODS AND RESULTS. We recorded monophasic action potentials (MAPs) with a contact electrode during right atrial pacing at a constant cycle length of 500 msec before and after continuous isoproterenol infusion (1 microgram/min). MAPs were obtained from the right and left ventricular endocardium in six patients with congenital long QT syndrome (LQT group, 18 recording sites) and in eight control patients (control group, 19 recording sites). Although no EADs were recorded from either group during the control state, MAP duration at 90% repolarization (MAPD90) was significantly longer in the LQT group (n = 18) than in the control group (n = 19) (275 +/- 36 versus 231 +/- 22 msec; p less than 0.0005). Isoproterenol induced EADs in four of the six LQT patients (five of 18 recording sites) but not in the eight control patients (zero of 19 recording sites). The appearance of EADs in the LQT group was associated with an increased amplitude of the late component of the TU complex, and the corrected QT (QTc) interval was prolonged by isoproterenol from 543 +/- 53 to 600 +/- 30 msec 1/2 (n = 6; p less than 0.05). Isoproterenol also prolonged the MAPD90 from 275 +/- 36 to 304 +/- 50 msec in the LQT group (n = 18; p less than 0.005), whereas it shortened the MAPD90 from 231 +/- 22 to 224 +/- 25 msec in the control group (n = 19; p less than 0.05). Moreover, isoproterenol increased the dispersion of MAPD90 (difference between the longest MAPD90 and the shortest MAPD90 in each patient) from 30 +/- 5 to 62 +/- 35 msec in the LQT group (n = 6; p = 0.08), whereas it did not change the dispersion of MAPD90 in the control group (n = 8; 25 +/- 14 versus 27 +/- 14 msec). CONCLUSIONS. These results suggest that patients with congenital long QT syndrome have primary repolarization abnormalities and that EADs induced by isoproterenol play an important role in the exaggeration of these repolarization abnormalities.     

A case of congenital long QT syndrome associated with T wave alternans]

A case was presented in which a rare T wave alternans occurred in association with congenital long QT syndrome. A 71-year-old woman, who had experienced several syncopal attacks per year for the previous forty years, was admitted for further evaluation of the syncope. She had a family history of sudden death (sister) and QT prolongation (son). Electrocardiogram showed a corrected QT interval of 0.68 seconds. Treadmill exercise-tolerance test revealed both T wave alternans immediately after exercise and torsades de pointes 150 seconds after exercise. The syncope was induced by the mental excitation. A prolonged corrected QT interval reduced from 0.70 seconds to 0.58 seconds by the correction of her serum potassium and magnesium. The effect of propranolol, verapamil, phenytoin or mexiletine on T wave alternans and ventricular arrhythmia was evaluated by the treadmill exercise-tolerance test. The treatment with propranolol was most effective.     

Management of long QT syndrome

Congenital long QT syndrome (LQTS) is a genetic disorder characterized by prolongation of the QT interval on the electrocardiogram and by life-threatening cardiac arrhythmias, occurring especially during conditions of increased sympathetic activity. Existing therapies are very effective, but mortality is high among untreated, symptomatic individuals. The identification of several of the genes responsible for LQTS and the realization that they all encode cardiac ion-channels has represented a landmark finding. This advance has fostered novel genotype-phenotype studies that are providing unique insight into how close the relationship can be between molecular biology and clinical cardiology. LQTS represents a paradigm for sudden cardiac death. Indeed, the growing knowledge developed for LQTS is likely to provide the key to understanding the genetic propensity to sudden death in patients with more-common cardiovascular diseases. The data presented here illustrate how the treatment of LQTS is rapidly evolving toward a highly individually tailored approach on the basis of patient-specific genetic information.     

Acquired long QT syndrome with torsade de pointes in a patient with primary hypothyroidism

A case of 78 year-old woman with primary hypothyroidism and atrial fibrillation treated with sotalol, complicated with cardiac arrest due to ventricular fibrillation (VF) and torsade de pointes (TdP) is presented. The QT interval was prolonged to 660 msec. Episodes of polymorphic ventricular tachycardia and VF recurred. Lidocaine, tosylate bretylate and betabloker successfully eliminated VF but short-lasting episodes of TdP were still present. Increased doses of hormonal substitution with thyroid hormones successfully eliminated malignant ventricular arrhythmias and normalised QT interval to 430 msec.