scholarly journals A NovelSCN5AMutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease

2009 ◽  
Vol 2009 ◽  
pp. 1-4
Author(s):  
Anders G. Holst ◽  
Kirstine Calloe ◽  
Thomas Jespersen ◽  
Pernille Cedergreen ◽  
Bo G. Winkel ◽  
...  

Brugada syndrome (BrS) is a primary electrical heart disease, which can lead to sudden cardiac death. In older patients with BrS, the disease may coexist with ischaemic heart disease (IHD) and recent studies support a synergistic proarrhythmic effect of the two disease entities. We report a case that illustrates this. The index patient was a middle-aged patient with BrS traits, IHD, and aborted sudden cardiac death. Mutation analysis discovered a novel mutation P468L in theNaV1.5 sodium channel. Surprisingly, voltage-clamp experiments on the wild-type and mutantNaV1.5 channels expressed in HEK cells revealed no functional effect of the mutation. In a patient like ours, the distinction between IHD and BrS as the cause of an aborted sudden cardiac death is hard to establish and mounting evidence shows that coexistence of the two may have a synergistic proarrhythmic effect.

Heart ◽  
1993 ◽  
Vol 70 (1) ◽  
pp. 49-55 ◽  
Author(s):  
A G Shaper ◽  
G Wannamethee ◽  
P W Macfarlane ◽  
M Walker

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Niilo R. I. Ryti ◽  
Elina M. S. Mäkikyrö ◽  
Harri Antikainen ◽  
M. Juhani Junttila ◽  
Eeva Hookana ◽  
...  

Heart Rhythm ◽  
2021 ◽  
Vol 18 (8) ◽  
pp. S449
Author(s):  
Kathryn E. Tobert ◽  
Johan Martijn Bos ◽  
Ramin Garmany ◽  
Michael John Ackerman

2021 ◽  
Vol 41 (5) ◽  
pp. 15-22
Author(s):  
L. Douglas Smith ◽  
Sarah Gast ◽  
Danielle F. Guy

Background Brugada syndrome is a genetic disorder of cardiac conduction that predisposes patients to spontaneous ventricular arrhythmia and sudden cardiac death. Although Brugada syndrome is one of the most common causes of sudden cardiac death, patients presenting with the syndrome often go misdiagnosed. This error has potentially fatal consequences for patients, who are at risk for sudden cardiac death without appropriate management. Objective To increase the critical care professional’s knowledge of Brugada syndrome through detailed description of the characteristic electrocardiographic findings, an algorithmic approach to electrocardiogram evaluation, and a case report of a patient with a previously missed diagnosis of Brugada syndrome. The essential concepts of epidemiology, pathophysiology, clinical presentation, risk stratification, and management are reviewed for critical care professionals who may encounter patients with the syndrome. Diagnosis Patients typically present with syncope or cardiac arrest and an abnormal electrocardiographic finding of ST-segment elevation in the precordial leads. The diagnosis of Brugada syndrome centers on identification of its electrocardiographic characteristics by critical care professionals who routinely evaluate electrocardiograms. Critical care professionals, especially nurses and advanced practice nurses, should be proficient in recognizing the electrocardiographic appearance of Brugada syndrome and initiating appropriate management. Interventions Management strategies include prevention of sudden cardiac death through lifestyle modification and placement of an implantable cardioverter-defibrillator. Critical care professionals should be aware of commonly used medications that may exacerbate ventricular arrhythmia and place patients at risk for sudden cardiac death. Conclusion Increased awareness of Brugada syndrome among critical care professionals can decrease patient morbidity and mortality.


2015 ◽  
Vol 39 (5) ◽  
pp. 561 ◽  
Author(s):  
Jia-Li Feng ◽  
Siobhan Hickling ◽  
Lee Nedkoff ◽  
Matthew Knuiman ◽  
Christopher Semsarian ◽  
...  

Objective The aim of the present study was to develop criteria to identify sudden cardiac death (SCD) and estimate population rates of SCD using administrative mortality and hospital morbidity records in Western Australia. Methods Four criteria were developed using place, death within 24 h, principal and secondary diagnoses, underlying and associated cause of death, and/or occurrence of a post mortem to identify SCD. Average crude, age-standardised and age-specific rates of SCD were estimated using population person-linked administrative data. Results In all, 9567 probable SCDs were identified between 1997 and 2010, with one-third aged ≥35 years having no prior admission for cardiovascular disease. SCD was more frequent in men (62.1%). The estimated average annual crude SCD rate for the period was 34.6 per 100 000 person-years with an average annual age-standardised rate of 37.8 per 100 000 person-years. Age-specific standardised rates were 1.1 per 100 000 person-years and 70.7 per 100 000 person-years in people aged 1–34 and ≥35 years, respectively. Ischaemic heart disease (IHD) was recorded as the underlying cause of death in approximately 80% of patients aged ≥35 years, followed by valvular heart disease and heart failure. IHD was the most common cause of death in those aged 1–34 years, followed by unspecified cardiomyopathy and dysrhythmias. Conclusions Administrative morbidity and mortality data can be used to estimate rates of SCD and therefore provide a suitable methodology for monitoring SCD over time. The findings highlight the magnitude of SCD and its potential for public health prevention. What is known about the topic? There is considerable variability in rates of SCD worldwide. Different data sources and varied methods of case ascertainment likely contribute to this variation. What does this paper add? The rate of SCD in Australia is low compared with international estimates from USA, Ireland, Netherlands and China. Two in every three cases of SCD aged ≥35 years had a hospitalisation history of cardiovascular disease, highlighting the opportunity for prevention. What are the implications for practitioners? High-quality person-linked administrative hospital morbidity and registered mortality data can be used to estimate rates of SCD in the population. Understanding the magnitude and distribution of SCD is imperative for developing effective public health policy and prevention measures.


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