Ion Channel Disease as a Cause of the Brugada Syndrome

Author(s):  
Connie R. Bezzina ◽  
Arthur A. M. Wilde
2017 ◽  
Vol 121 (5) ◽  
pp. 537-548 ◽  
Author(s):  
Christiaan C. Veerman ◽  
Svitlana Podliesna ◽  
Rafik Tadros ◽  
Elisabeth M. Lodder ◽  
Isabella Mengarelli ◽  
...  

2017 ◽  
Vol 121 (5) ◽  
Author(s):  
Christiaan C. Veerman ◽  
Ronald Wilders ◽  
Arthur A. Wilde ◽  
Ruben Coronel ◽  
Carol Ann Remme ◽  
...  

2020 ◽  
Vol 318 (6) ◽  
pp. H1357-H1370
Author(s):  
Hassan Musa ◽  
Cherisse A. Marcou ◽  
Todd J. Herron ◽  
Michael A. Makara ◽  
David J. Tester ◽  
...  

The gene encoding SAP97 ( DLG1) joins a growing list of genes encoding ion channel interacting proteins (ChIPs) identified as potential channelopathy-susceptibility genes because of their ability to regulate the trafficking, targeting, and modulation of ion channels that are critical for the generation and propagation of the cardiac electrical impulse. In this study we provide the first data supporting DLG1-encoded SAP97’s candidacy as a minor Brugada syndrome susceptibility gene.


Heart ◽  
2012 ◽  
Vol 98 (7) ◽  
pp. 536-543 ◽  
Author(s):  
Claire A Martin ◽  
Gareth D K Matthews ◽  
Christopher L-H Huang

Author(s):  
Shogade T.T ◽  
Shogade T.T ◽  
A.A. Akpabio ◽  
F.E. Markson ◽  
F.O. Sogade

Rationale: Brugada syndrome (BrS) is a cardiac ion channel disease that is caused by an autosomal dominant genetic abnormality. It is frequently seen among young and middle-aged adults of Asian descent and rarely in blacks. Patient Concerns: We report an extremely rare case of an 82-year-old male known hypertensive with poor drug compliance, who suffered recurrent palpitations and pre-syncope. His electrocardiogram showed an unusual right bundle branch block with coved ST segment elevation in leads V1-V3. Diagnoses: The patient was eventually diagnosed with Brugada Syndrome with background hypertensive heart disease. He could not have genetic testing due to unavailability and cost. Interventions: The patient was treated with antihypertensives but could not afford a device implant. He was counseled to avoid risk factors such as fever, extreme physical and emotional exertions etc. Outcomes: At his last clinic visit two months post diagnosis he still had similar symptoms but no syncope nor sudden cardiac arrest. Lessons: To the best of our knowledge, this is possibly the first reported case of BrS in an elderly African with hypertensive heart disease.


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