|Year : 2020 | Volume
| Issue : 3 | Page : 72-74
Therapeutic modality of the long QT syndrome: Lesson from the past
Edin Begic1, Enisa Hodzic2, Zijo Begic3, Amer Iglica2, Nedim Begic3, Omer Jusic2
1 Department of Cardiology, General Hospital «Prim.dr. Abdulah Nakas»; Department of Pharmacology, School of Medicine, Sarajevo School of Science and Technology, Sarajevo, Bosnia and Herzegovina
2 Intensive Care Unit, Clinic for Heart, Blood Vessel and Rheumatic Diseases, Clinical Center University of Sarajevo, Sarajevo, Bosnia and Herzegovina
3 Department of Cardiology, Paediatric Clinic, Clinical Center University of Sarajevo, Sarajevo, Bosnia and Herzegovina
|Date of Submission||04-Aug-2020|
|Date of Decision||17-Aug-2020|
|Date of Acceptance||19-Sep-2020|
|Date of Web Publication||26-Oct-2020|
Dr. Edin Begic
Department of Cardiology, General Hospital «Prim.dr. Abdulah Nakas», Sarajevo
Bosnia and Herzegovina
Source of Support: None, Conflict of Interest: None
Long QT syndrome (LQTS) is a rare (1:2500–1:10,000) inherited disorder characterized by the onset of arrhythmogenic syncope, polymorphic ventricular tachycardia, and sudden cardiac death. The aim of this article was to describe an unexpected success with an unusual therapeutic modality of a patient diagnosed with LQTS syndrome (suspected Romano–Ward syndrome) during an 8-year period. A 59-year-old female patient was admitted to the hospital due to chest pain and nausea, and after diagnostic and therapeutical approach, a permanent dual-chamber rate-modulated (DDDR) pacemaker was implanted instead of the implantable cardioverter defibrillator (ICD). During the 8-year period, the patient remained stable, without rhythm disorder. Romano–Ward syndrome as a congenital LQTS carries a high risk of sudden cardiac death and presents an indication for ICD. In this patient, for objective reasons, this could not be performed. Implantation of a DDDR with an appropriate pharmacological therapy, including propranolol, in this case, proved to be a successful therapeutic modality.
Keywords: Long QT syndrome, Romano–Ward syndrome, therapy
|How to cite this article:|
Begic E, Hodzic E, Begic Z, Iglica A, Begic N, Jusic O. Therapeutic modality of the long QT syndrome: Lesson from the past. Res Cardiovasc Med 2020;9:72-4
|How to cite this URL:|
Begic E, Hodzic E, Begic Z, Iglica A, Begic N, Jusic O. Therapeutic modality of the long QT syndrome: Lesson from the past. Res Cardiovasc Med [serial online] 2020 [cited 2020 Dec 3];9:72-4. Available from: https://www.rcvmonline.com/text.asp?2020/9/3/72/298989
| Introduction|| |
Long QT syndrome (LQTS) is a rare (1:2500–1:10,000) inherited disorder characterized by the onset of arrhythmogenic syncope, polymorphic ventricular tachycardia, and sudden cardiac death ,,, During 1990, three genes were differentiated as the basis of LQTS: KcNQ1 (42%–42% genetically positive LQTS) found in the background of LQTS type 1, KCNH2 (35%–45%) in the background of LQTS Type 2, and SCN5A (8%–10%) in the background of LQTS type 3,, [Table 1].
The aim of this article is to describe an unexpected success with an unusual therapeutic modality of a patient diagnosed with LQTS syndrome (suspected Romano–Ward syndrome) during an 8-year period.
| Case Report|| |
A 59-year-old female patient was admitted to a hospital (Clinic for Heart, Blood Vessel and Rheumatic Diseases, Clinical Centre University of Sarajevo, Sarajevo, Bosnia and Herzegovina) due to chest pain and nausea. During the 1st day of the hospitalization, she lost consciousness twice. Her medical history included long-term hypertension and obesity as well as a gallbladder operation, during which she experienced a cardiac arrest. Previous coronography showed a lack of pathological characteristics. Her family's medical history showed that her mother died suddenly at the age of 26. Head computed tomography scan showed no new ischemic lesions.
The electrocardiographic (ECG) finding on admission verified sinus rhythm with a heart rate of 102 beats per minute, PQ interval of 0.14 s, and left axis deviation with left bundle branch block, while QT-corrected (c) interval of 0.48 s. Echocardiographically, a mild mitral and tricuspid regurgitation was diagnosed, with diastolic dysfunction by restrictive type and a mild pulmonary hypertension (right ventricular systolic pressure 40.8 mmHg). Laboratory findings verified dyslipidemia and subclinical hypothyroidism, while values of sodium and potassium were regular during hospitalization. During the first few days at the hospital, evident prolongation of the QT interval, with frequent ventricular tachycardia (Torsades de Pointes [TdPs]), and recurrent multiple ventricular fibrillation (which converted to the sinus rhythm after direct current [DC] cardioversion [usually 200J × 1]) occurred.
She was treated with amiodarone, sotalol, and loops diuretics (mistake of younger colleague), when an additional prolongation of QTc interval (up to 0.60 s) was observed. Additional episodes of bradycardia (heart rate from 30 to 35 beats per minute) and TdPs were more frequent. After a temporary pacemaker was implanted, ventricular fibrillation occurred two more times. However, after a treatment with propranolol and magnesium, the patient was partially electrically stabilized. Implantation of an implantable cardioverter defibrillator (ICD) was indicated, however, it could not be carried out due to financial reasons. A permanent dual-chamber rate-modulated (DDDR) pacemaker was implanted instead of the ICD (with pacing rate of 70 beats per minute), and the patient was discharged with prescribed therapy of propranolol 3 × 40 mg, enalapril 2 × 5 mg, spironolactone 25 mg per day, aspirin 100 mg per day, magnesium effervescent one per day, and atorvastatin 10 mg per day. During the 8-year period, with minor titration in pharmacological therapy, the patient remained stable, without rhythm disorder (without pathological finding on ECG 24 h ECG Holter monitoring), without episodes of syncope and presyncope.
| Discussion|| |
Jervell and Lange-Nielsen presented the case of a family in 1957, with four deaf members, who suffered attacks of fainting, and three members died due to these episodes, with an ECG-recorded prolongation of the QT interval. Romano et al. presented the first case of LQTS in Italy in 1963, but without deafness, while in 1964, Ward also described the same syndrome without deafness.
For the diagnosis of LQTS, a cutoff value of QT interval >0.46 s as well as 0.44 s is set, as well as clinical criteria of the diagnosis (Schwartz score)., Negative genetic testing does not exclude the disease, but is highly recommended with the borderline value of the QTc interval. TdP is in the background of symptomology of Romano–Ward syndrome, and it can lead into ventricular fibrillation, causing cardiac arrest or sudden cardiac death., The basic clinical symptoms are syncope, convulsions, and even epileptic attacks., Acute treatment of ventricular tachycardia and ventricular fibrillation is carried out pharmacologically, or with DC, and in the case of TdP with magnesium sulfate in a dose of 20–50 mg/kg intravenously initially up to 2 g, taking into account hypokalemia as a possible cause and consideration of adrenergic blockade (esmolol) as a form of therapy. All QT-prolonging drugs must be excluded in therapy. If fast-acting beta-blockers have no effect (even long-acting beta-blockers are option), phenytoin, intravenous lidocaine, and/or intravenous verapamil may be one of the therapeutic modalities. Prophylactic therapy is reduced to beta-blockers (the LQT1 type has the greatest benefit), and optionally in a mexiletine, flecainide with quite questionable and dubious action of calcium blockers. In the past, permanent pacing was an option for those with persistent symptoms despite adequate medical therapy, but in modern medicine, implantation of ICD in high-risk patients is imposed as an optimal treatment (especially if they already have verified episodes of sudden heart failure). Left cervicothoracic sympathectomy should be considered in patients who have persistent symptoms or receive repeated ICD shocks despite optimal medication treatment.,,
Moss et al. according to results in a sample of thirty patients who received a permanent pacemaker in highly suspected LQTS, stated that the success of therapy was related to the prevention of bradycardia, pauses, and the shortening of long QT intervals, and they noted that permanent cardiac pacing reduces the rate of recurrent syncope in high-risk LQTS patients, but it did not provide complete protection. The same authors also stated that there is physiological rationale for combining beta-blockers and permanent pacing in the treatment of high-risk LQTS patients, while pacing rate should be 70–80 beats per minute. Eldar et al. also stated that permanent pacing in combination with beta-blockers is the treatment option for LQTS patients.
The diagnosis and treatment of heart rhythm disorders in pediatric population would take place in three steps: the first step is to discover the arrhythmia itself and correct diagnosis by the correct selection and application of the diagnostic methods. The second step is the assessment of the clinical and prognostic significance of the child's dysrhythmia. The third step is making a decision on a rational therapeutic procedure (control, drug prophylaxis, radiofrequency ablation, DDDR implantation, and implantation of ICD). Rationality is manifested by effective procedures based on clinical practice and evidence from clinical studies, while reducing unnecessary costs for unnecessary diagnostic methods and inadequate treatment.
The register of rare diseases, with investing in genetic testing, should be imperative for the health-care system in Bosnia and Herzegovina because in that way, it can be possible to establish an optimal algorithm for treating rare pathological disorders.
| Conclusion|| |
Romano–Ward syndrome as a congenital LQTS carries a high risk of sudden cardiac death and presents an indication for ICD. In this patient, for objective reasons, this could not be performed. Implantation of a DDDR with an appropriate pharmacological therapy, including propranolol, in this case, proved to be a successful therapeutic modality. Genetic testing is recommended in these cases.
Ethical approval was obtained from School of Medicine, Sarajevo School of Science and Medicine. Ethical approval was obtained from Health Care Centre Maglaj (November 11, 2019).
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Lu JT, Kass RS. Recent progress in congenital long QT syndrome. Curr Opin Cardiol 2010;25:216-21.
Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 1957;54:59-68.
Romano C, Gemme G, Pongiglione R. Rare cardiac arrhythmias of the pediatric age. II. Syncopal attacks due to paroxysmal ventricular fibrillation. Clin Pediatr 1963;45:656-61.
Ward OC. A new familial cardiac syndrome in children. Ir Med J 1964;54:103-6.
Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995;80:795-803.
Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, et al
. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000;102:1178-85.
Schwartz PJ, Crotti L, Insolia R. Long-QT syndrome: From genetics to management. Circ Arrhythm Electrophysiol 2012;5:868-77.
Chatrath R, Bell CM, Ackerman MJ. β-blocker therapy failures in symptomatic probands with genotyped long-QT syndrome. Pediatr Cardiol 2004;25:459-65.
Shah M, Carter C. Long QT syndrome: A therapeutic challenge. Ann Pediatr Cardiol 2008;1:18-26.
Schwartz PJ, Snebold NG, Brown AM. Effects of unilateral cardiac sympathetic denervation on the ventricular fibrillation threshold. Am J Cardiol 1976;37:1034-40.
Moss AJ, Liu JE, Gottlieb S, Locati EH, Schwartz PJ, Robinson JL. Efficacy of permanent pacing in the management of high-risk patients with long QT syndrome. Circulation 1991;84:1524-9.
Eldar M, Griffin JC, Abbott JA, Benditt D, Bhandari A, Herre JM, et al
. Permanent cardiac pacing in patients with the long QT syndrome. J Am Coll Cardiol 1987;10:600-7.