A remarkable journey: Managing LQTS in a 43-year-old female with recurrent syncope and seizure

S. Aravinda Kumar^1,*, R. Haridha Devi²

¹Chief Consultant Interventional Cardiologist, Kauvery Hospital, Heartcity, Trichy

²Duty Medical Officer, Kauvery Hospital, Heartcity, Trichy

Abstract

Long QT syndrome (LQTS) is a rare cardiovascular disorder that affects the heart’s electrical system, resulting in irregular and potentially life-threatening arrhythmias. Individuals with LQTS have a prolonged QT interval on their electrocardiogram (ECG), which can lead to a dangerous condition known as torsades de pointes, a type of ventricular tachycardia. Living with Long QT syndrome (LQTS) can be a challenging task, especially for those who experience recurring syncope and seizures. In this article, we explore the remarkable journey of a 45-year-old female who, after years of struggle and searching for answers, was diagnosed with LQTS. Her journey took a significant turn when she underwent prophylactic ganglionectomy followed by the implantation of an implantable cardioverter-defibrillator (ICD).

Case Presentation

A 43-year-old female patient Mrs. L came to the ER with a history of recurrent syncope and seizure from 10 years of age, which was aggravated for the past week. She was on Levetiracetam 100 mg once daily for the past 33 years. She had a family history of the sudden death of her younger brother at the age of 8 years. Her marriage was consanguineous; her younger son also has similar complaints of recurrent syncope and seizures on exertion. Her physical examination revealed no abnormality, and laboratory investigations were within normal limits.

ECG revealed prolonged corrected QT 595 seconds on chest leads.

Echocardiography revealed dilated cardiomyopathy, mild left ventricular dysfunction with EF-45%, mild mitral regurgitation and grade III diastolic dysfunction possibly tachycardiomyopathy. In view of the above findings, she was diagnosed with LQTS and admitted to CCU.

Patient was managed with anti arrythmic measures including Beta blocker and Mexilitine.

Ultrasound-guided left stellate ganglion block was done to reduce the torsades de point. Later stellate ganglionectomy was done.

Following the successful ganglionectomy, an implantable cardioverter-defibrillator (ICD) was surgically implanted under the patient’s skin, near her collarbone, and was programmed to monitor and deliver electrical shocks, if necessary, ultimately ensuring her heart maintains a normal rhythm during any potential arrhythmia episodes.

Post-procedure, the patient’s quality of life has tremendously improved. The recurrence of syncope and seizures stopped, allowing her to regain her independence and resume activities she once avoided.

Fig. 1. Family Diagram.

Fig. 2. Patients ECG

Fig. 3. ECG of her 1st son.

Fig. 4. ECG of her 2nd son.

Discussion

LQTS is primarily an inherited disorder caused by mutations in genes encoding cardiac ion channels. These mutations disrupt the delicate balance between potassium and sodium channels involved in cardiac myocyte repolarization, leading to prolonged QT intervals on electrocardiogram (ECG). Three major subtypes of LQTS have been identified – LQT1, LQT2, and LQT3. Each subtype carries specific genetic mutations and clinical characteristics, requiring tailored management strategies.

The diagnosis of LQTS can be challenging due to several factors. Firstly, affected individuals may remain asymptomatic until a life-threatening arrhythmia occurs. Secondly, the syndrome can present with a wide range of QT interval prolongation, making it difficult to differentiate from other causes such as drug-induced QT prolongation. Thirdly, genetic testing is not always readily available or may be inconclusive, further complicating accurate diagnosis.

The management of LQTS revolves around risk stratification and preventive measures to reduce the incidence of life-threatening arrhythmias. Patients with confirmed LQTS and a longer QT interval are considered higher-risk and may benefit from various interventions. Beta-blocker therapy, predominantly with propranolol or nadolol, remains the cornerstone of treatment for LQTS, reducing the incidence of cardiac events by decreasing adrenergic stimulation. Additionally, lifestyle modifications such as avoiding triggers, particularly intense physical exercise and medications known to prolong QT intervals, form an integral part of preventive measures

In recent years, advancements in LQTS management have led to the identification of novel therapies. In selected cases, implantable cardioverter-defibrillators (ICDs) have been recommended to provide an effective rescue mechanism in high-risk individuals. Moreover, RNA-targeted therapies and gene editing techniques are being explored for potential precision medicine applications in LQTS management.

Conclusion

The case of this 43-year-old female highlights the complexity of diagnosing and managing Long QT syndrome (LQTS). With a history of recurrent syncope and seizures dating back to childhood, combined with a consanguineous marriage and the tragic sudden cardiac death of her younger brother, the family’s journey led to a definitive diagnosis of LQTS. Through a combination of prophylactic ganglionectomy and ICD implantation, the patient experienced an improvement in her symptoms and quality of life.

This case underscores the importance of considering genetic factors and familial history when evaluating unexplained cardiovascular symptoms. Early diagnosis, appropriate surgical interventions, and enhanced monitoring techniques can contribute significantly to the long-term management of LQTS and improve outcomes for affected individuals and their families.

Dr. S. Aravindakumar

Chief Consultant Interventional Cardiologist

Dr. R. Haridha Devi

Duty Medical Officer

A remarkable journey: Managing LQTS in a 43-year-old female with recurrent syncope and seizure