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Genetically Determined Ventricular Arrhythmias
Published in Andrea Natale, Oussama M. Wazni, Kalyanam Shivkumar, Francis E. Marchlinski, Handbook of Cardiac Electrophysiology, 2020
Houman Khakpour, Jason S. Bradfield
The second Consensus Conference on Brugada Syndrome recognized 3 types of ECG patterns. Type 1 is the only diagnostic pattern and the other two may suggest the disease.48Type 1 : Characterized by coved ST-segment elevation ≥2 mm (0.2 mV) followed by a negative T-wave in >1 lead from V1 to V3.Type 2 : Has ≥2 mm J-point elevation, ≥1 mm ST-segment elevation and a saddleback appearance, followed by a positive or biphasic T-wave.Type 3 : Has either a saddleback or coved appearance with an ST-segment elevation of <1 mm.
The ST segment
Published in Andrew R Houghton, Making Sense of the ECG, 2019
Brugada syndrome is a hereditary (autosomal dominant) condition most commonly associated with mutations of the SCN5A gene (which codes for a subunit of the cardiac sodium channel). Over 390 such mutations have so far been identified. Brugada syndrome predisposes the patient to syncope and sudden cardiac death secondary to ventricular arrhythmias. It is thought to be responsible for as many as 50% of cases of sudden cardiac death with an ‘apparently normal’ heart.
The heart
Published in Laurie K. McCorry, Martin M. Zdanowicz, Cynthia Y. Gonnella, Essentials of Human Physiology and Pathophysiology for Pharmacy and Allied Health, 2019
Laurie K. McCorry, Martin M. Zdanowicz, Cynthia Y. Gonnella
A number of genetic variants have been identified that may cause arrhythmia and even sudden death in patients with apparently normal hearts. These genetic variants involve proteins that are found in cardiac ion channels (Na+, K+, Cl−). The presence of these altered proteins can impact the normal opening and closing of these ion channels, thus affecting the depolarization and repolarization of cardiac myocytes and pacemaker cells. Some of these conditions include: Long QT Syndrome (LQTS)—patients present with prolonged QT intervals on the ECG. This condition is associated with the development of potentially life-threatening ventricular arrhythmias.Brugada Syndrome—genetic disorder associated with abnormal cardiac sodium channels. The condition typically has an autosomal dominant transmission and presents with ST segment elevations on the ECG. Patients with Brugada syndrome have an increased risk of right bundle branch block, tachyarrhythmia, and sudden cardiac death.
Brugada syndrome clinical update
Published in Hospital Practice, 2021
Rhadames Rojas, Risheek Kaul, Daniel Frenkel, Ethan G Hoch, Sei Iwai, Jason T Jacobson, Wilbert S. Aronow
Brugada Syndrome is an autosomal dominant disorder with variable penetrance and expressivity that can lead to ventricular tachycardia/fibrillation and sudden cardiac death. The diagnosis is established based on specific EKG criteria once other clinical conditions have been ruled out. Currently, ICD implantation and the avoidance of modulating factors such as fevers, electrolyte abnormalities and certain medications are the accepted therapies for protecting individuals at risk of ventricular arrhythmias and sudden cardiac death. In children, and adults with contraindications to ICD implant, oral medications such as quinidine can also be considered. In this article, we have discussed the pathophysiology and genetic basis of BrS, in addition to providing an insight into its clinical manifestations, appropriate risk stratification measures, and both short-term and long-term therapies that are available.
A STEMI mimic (Brugada ECG pattern) unveiled by influenza fever
Published in Journal of Community Hospital Internal Medicine Perspectives, 2020
Parminder Kaur, Snigdha Reddy Bendaram, Balraj Singh, Sherif Elkattawy, Anuraag Sah, Muhammad Noori, Raja Pullatt, Fayez Shamoon
Brugada syndrome is a genetic disorder that carries significant risk of sudden cardiac death. This autosomal dominant genetic defect affects myocardial sodium channels triggering abnormal electrical activity in the heart [1,2]. Patients can present with syncopal episodes and fatal ventricular arrhythmias, including ventricular fibrillation and polymorphic ventricular tachycardia that can lead to sudden cardiac death. Brugada pattern electrocardiogram (ECG) shows persistent ST elevation in leads V1–V3 with a right bundle branch block (RBBB) appearance referred to as pseudo-right bundle branch block. The most recognized Brugada ECG phenotype, Type 1, referred to as Coved type shows elevated ST segment that descends with an upward convexity followed by inverted T wave. Type 2 has ‘saddle back’ ST morphology in which elevated ST segment descends towards baseline before rising to an upright or biphasic T wave.
Simultanagnosia as the presenting symptom in neuro-ophthalmology
Published in Baylor University Medical Center Proceedings, 2020
Rui Wang, Grant Hopping, Bayan Al Othman, Subhan Tabba, Ashwini Kini, Andrew G. Lee
In case 2, a juxtaposed bilateral homonymous hemianopsia was present due to bilateral parieto-occipital ischemia and thus hypoxic injury to the superior optic radiations. This partly corresponds to “watershed” areas of the brain particularly susceptible to anoxic brain damage. Decreased visual acuity was likely due to bilateral macular involvement. To our knowledge, no cases of simultanagnosia secondary to hypoxic injury of parieto-occipital lobes have been published in the setting of Brugada syndrome. Neuropsychological evaluation showed severe global cognitive decline but only relatively decreased measures of attention efficiency, attention capacity, and working memory. Measures of visual ability were not explicitly reported. Genetic testing showed a heterozygous mutation of the SCN5A gene, which encodes the alpha subunit of the main cardiac sodium channel. This gene is the most common mutation associated with Brugada syndrome but is also associated with long QT interval, type 3 dilated cardiomyopathy, and atrial fibrillation. Brugada syndrome is a common genetic cause of sudden unexpected cardiac arrest by predisposing otherwise healthy young adults to ventricular arrhythmia.5 Testing of the proband might help identify other at-risk relatives who might benefit from prophylactic automatic implantable cardioverter-defibrillator placement.