scholarly journals Preventing a Catastrophe: Increasing Awareness of Loeys-Dietz Syndrome

2019 ◽  
Vol 46 (1) ◽  
pp. 41-43
Author(s):  
Bradley S. Kane ◽  
Kamran Shamsa
Keyword(s):  
Sudden Cardiac Death ◽  
Natural History ◽  
Aortic Dissection ◽  
Crucial Role ◽  
Cardiac Death ◽  
Genetic Disorder ◽  
Family Members ◽  
Aortic Aneurysms ◽  
Physician Awareness ◽  
History Of

Loeys-Dietz syndrome is a genetic disorder that predisposes patients to aortic aneurysms. If left untreated, the natural history of the associated aortopathy often culminates in fatal aortic dissection. We describe the case of a 21-year-old man who was diagnosed with Loeys-Dietz syndrome after 2 family members died of aortic dissection. This case highlights the importance of increased physician awareness of this syndrome, which can play a crucial role in preventing premature sudden cardiac death caused by aortic catastrophe.

scholarly journals Does the Age of Sudden Cardiac Death in Family Members Matter in Brugada Syndrome?

2021 ◽  
Author(s):  
Pattara Rattanawong ◽  
Jakrin Kewcharoen ◽  
Chanavuth Kanitsoraphan ◽  
Timothy Barry ◽  
Anusha Shanbhag ◽  
...  
Keyword(s):  
Family History ◽  
Sudden Cardiac Death ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Meta Analysis ◽  
Positive Family History ◽  
Family Members ◽  
Increased Risk ◽  
History Of ◽  
Risk Predictor

Background Brugada syndrome is an inherited cardiac channelopathy associated with major arrhythmic events (MAEs). The presence of a positive family history of sudden cardiac death (SCD) as a risk predictor of MAE remains controversial. We aimed to examine the association between family history of SCD and MAEs stratified by age of SCD with a systematic review and meta‐analysis. Methods and Results We searched the databases of MEDLINE and EMBASE from January 1992 to January 2020. Data from each study were combined using the random‐effects model. Fitted metaregression was performed to evaluate the association between the age of SCD in families and the risk of MAE. Twenty‐two studies from 2004 to 2019 were included in this meta‐analysis involving 3386 patients with Brugada syndrome. The overall family history of SCD was not associated with increased risk of MAE in Brugada syndrome (pooled odds ratio [OR], 1.11; 95% CI, 0.82–1.51; P =0.489, I 2 =45.0%). However, a history of SCD in family members of age younger than 40 years of age did increase the risk of MAE by ≈2‐fold (pooled OR, 2.03; 95% CI, 1.11–3.73; P =0.022, I 2 =0.0%). When stratified by the age of cut point at 50, 45, 40, and 35 years old, a history of SCD in younger family member was significantly associated with a higher risk of MAE (pooled OR, 0.49, 1.30, 1.51, and 2.97, respectively; P =0.046). Conclusions A history of SCD among family members of age younger than 40 years was associated with a higher risk of MAE.

scholarly journals Diagnosis of Brugada Syndrome, a Rare Inherited Arrhythmogenic Disorder

2020 ◽  
Vol 3 (2) ◽  
pp. 70-73
Author(s):  
Juwairiya Syed Iqbaluddin ◽  
Fathima Murthuza ◽  
Sumaiya Iqbal
Keyword(s):  
Family History ◽  
Sudden Cardiac Death ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Genetic Disorder ◽  
Positive Family History ◽  
Provocation Test ◽  
Increased Risk ◽  
History Of ◽  
Electrocardiogram Ecg

Brugada syndrome (BrS) is a rare, autosomal dominant genetic disorder with mutation in the SCN5A gene. It is associated with an increased risk of arrhythmias and sudden cardiac death. BrS can be diagnosed by characteristic electrocardiogram (ECG) findings and significant events, such as syncope, palpitations, nocturnal respiratory agonia, and family history of sudden cardiac death below the age of 45 years. Special investigations, such as electrophysiology study, ajmaline provocation test, and genetic testing, play an important role in its diagnosis. This case report describes a patient who presented with chest pain and dizziness along with a positive family history of sudden cardiac deaths below the age of 45 years. He was discovered to have type 2 Brugada pattern on ECG, and by ajmaline provocation test, the type 1 pattern was unmasked, which established a definitive diagnosis of BrS. The patient was then advised for an implantable cardioverter-defibrillator. This case highlights the need for physicians to be competent in identifying patients with BrS in order to provide the necessary management and prevent fatal outcomes.

Effects of long-term chloroquine administration on the natural history of aortic aneurysms in mice

2015 ◽  
Vol 93 (8) ◽  
pp. 641-648 ◽  
Author(s):  
Azza Ramadan ◽  
Mark D. Wheatcroft ◽  
Adrian Quan ◽  
Krishna K. Singh ◽  
Fina Lovren ◽  
...  
Keyword(s):  
Natural History ◽  
Thrombus Formation ◽  
Aortic Aneurysms ◽  
Ang Ii ◽  
Abdominal Aortic ◽  
Suprarenal Aorta ◽  
History Of ◽  
Categorical Distribution

Autophagy regulates cellular homeostasis and integrates the cellular pro-survival machinery. We investigated the role of autophagy in the natural history of murine abdominal aortic aneurysms (AAA). ApoE−/− mice were implanted with saline- or angiotensin II (Ang-II)-filled miniosmotic pumps then treated with either the autophagy inhibitor chloroquine (CQ; 50 mg·(kg body mass)–1·day–1, by intraperitoneal injection) or saline. Ang-II-elicited aneurysmal expansion of the suprarenal aorta coupled with thrombus formation were apparent 8 weeks later. CQ had no impact on the incidence (50% for Ang-II compared with 46.2% for Ang-II + CQ; P = NS) and categorical distribution of aneurysms. The markedly reduced survival rate observed with Ang-II (57.1% for Ang-II compared with 100% for saline; P < 0.05) was unaffected by CQ (61.5% for Ang-II + CQ; P = NS compared with Ang-II). CQ did not affect the mean maximum suprarenal aortic diameter (1.91 ± 0.19 mm for Ang-II compared with 1.97 ± 0.21 mm for Ang-II + CQ; P = NS). Elastin fragmentation, collagen accumulation, and smooth muscle attrition, which were higher in Ang-II-treated mice, were unaffected by CQ treatment. Long-term CQ administration does not affect the natural history and prognosis of experimental AAA, suggesting that global loss of autophagy is unlikely to be a causal factor in the development of aortic aneurysms. Manipulation of autophagy as a mechanism to reduce AAA may need re-evaluation.

Brugada Syndrome: Fatal Consequences of a Must-Not-Miss Diagnosis

2021 ◽  
Vol 41 (5) ◽  
pp. 15-22
Author(s):  
L. Douglas Smith ◽  
Sarah Gast ◽  
Danielle F. Guy
Keyword(s):  
At Risk ◽  
Critical Care ◽  
Sudden Cardiac Death ◽  
Ventricular Arrhythmia ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Lifestyle Modification ◽  
Genetic Disorder ◽  
Cardiac Conduction ◽  
St Segment Elevation

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.

Abstract 3667: Comparison of Risk Profiles between Survivors and Victims of Sudden Cardiac Death of an Acute Coronary Event

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Kari S Kaikkonen ◽  
Marja-Leena Kortelainen ◽  
Heikki V Huikuri
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Sudden Cardiac Death ◽  
Cardiac Hypertrophy ◽  
Odds Ratio ◽  
Cardiac Death ◽  
Coronary Event ◽  
Acute Coronary Event ◽  
Risk Profiles ◽  
History Of

Introduction. There is little information on the specific risk factors leading to sudden cardiac death (SCD) during an acute coronary event, because the risk variables may overlap with those of non-fatal coronary event. This study was designed to compare the risk profiles of SCD victims and survivors of an acute coronary event. Methods and Results. A case-control study included consecutive victims of SCD (n=425, mean age 64±11 years) verified to be due to an acute coronary event at medicolegal autopsy and consecutive patients surviving an acute myocardial infarction (AMI, n=644, mean age 62±10 years). Common cardiovascular risk factors, cardiac hypertrophy, and severity of coronary artery disease (CAD) were assessed in both groups. Family history of SCD (odds ratio 1.5, 95% CI 1.0 to 2.2, p=0.03), male gender (odds ratio 1.8, 95% CI 1.3 to 2.4, p<0.001), current smoking (odds ratio 2.0, 95% CI 1.5 to 2.6, p<0.001), cardiac hypertrophy (odds ratio 3.0, 95% CI 2.3 to 3.9, p<0.001) and 3-vessel CAD (odds ratio 5.4, 95% CI 3.6 to 8.2, p<0.001) were more common among the victims of SCD as compared to survivors of AMI. On the contrary, history of hypercholesterolemia (p<0.001) was less common among the SCD victims. There was a cumulative increase of risk of being a SCD victim vs. AMI survivor when more than one risk factor was present, the odds ratio being 44.3 (95% CI 8.0 to 246.7) in a current male smoker with a family history of SCD and cardiac hypertrophy. When 3-vessel CAD was added to the combined risk score, all subjects (7% of the SCD victims) were in the group of SCD giving a 100% sensitivity and specificity, respectively, in differentiating between the SCD victims and AMI survivors. Conclusions. There are specific features that differentiate the victims of SCD from survivors of an acute coronary event. Clustering of several variables, such as family history of SCD, smoking, cardiac hypertrophy, and 3-vessel CAD indicate a very high risk of SCD.

Abstract 4069: Refusal to Seek Medical Care for Symptoms Prior to Sudden Cardiac Death

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Anne G Rosenfeld ◽  
Mohamud Daya ◽  
Vivian Christensen ◽  
Rebecca Rawson
Keyword(s):  
Heart Disease ◽  
Chest Pain ◽  
Sudden Cardiac Death ◽  
Medical Care ◽  
Cardiac Death ◽  
Significant Proportion ◽  
Heart Association ◽  
Qualitative Description ◽  
Cardiac Symptoms ◽  
History Of

Sudden cardiac death (SCD) is accompanied by preceding symptoms in a significant proportion of victims, with a median duration of up to 2 hours in some cases. The purpose of this study was to describe the characteristics of SCD victims with heralding symptoms who refused medical care. We conducted a secondary data analysis of interview data from witnesses of 99 cases of out-of-hospital presumed myocardial infarction death with known symptoms. Qualitative description methods were used to analyze qualitative data. Logistic regression was used to test the influence of type of symptoms (chest pain vs. non-chest pain), history of heart disease, and age on refusal of medical care. Categorization as refusal of medical care required conversation with someone where refusal was expressed verbally by the victim. There were 19 cases (19%) that refused medical care; their mean age was 72. The majority were male (16/19, 84%). Fifteen cases involved persistent refusal, defined as refusing care until collapse (range of <15 minutes to 60 hours). Four victims initially refused care and then permitted access to medical care. The suggestion for seeking medical care came from someone else in all but one case, and usually included multiple attempts. The care options offered but refused included calling 911 or a doctor, as well as going to the hospital, emergency department or a doctor’s office. Reasons for refusal of medical care (more than one reason in some cases) included stating the symptoms were due to something not urgent (n=10), other obligations (n=3), expressed dislike of hospitals or doctors (n=4), or recent medical reassurance of health status (n=7). Controlling for age, victims with chest pain vs. non-chest pain symptoms were more likely (OR = 3.56, p = .036, 95% CI = 1.09 –11.66) to refuse medical care and those with a history of heart disease were less likely (OR = .16, p = .004, 95% CI = .05–.55) to refuse medical care. Patients with chest pain and no history of heart disease are more likely to refuse advice to seek medical care. Public health messages about how to respond to cardiac symptoms should include strategies to overcome the reasons people refuse medical care. This research has received full or partial funding support from the American Heart Association, AHA Pacific/Mountain Affiliate (Alaska, Arizona, Colorado, Hawaii, Idaho, Montana, Oregon, Washington & Wyoming).

scholarly journals Brugada Syndrome: Presentation and Management of the Atypical Patient in the Emergent Setting

2020 ◽  
Vol 4 (2) ◽  
pp. 251-254
Author(s):  
Alexander Nguyen ◽  
Mario Flores ◽  
Vilmogil Tano
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Sudden Cardiac Death ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Genetic Disorder ◽  
Atypical Presentation ◽  
Electrical System ◽  
Southeast Asians ◽  
Hispanic Male

Introduction: Brugada syndrome is a genetic disorder of the heart’s electrical system that increases a patient’s risk of sudden cardiac death. It is a syndrome most prevalent in Southeast Asians and is found 36 times more commonly in Asians than in Hispanics. Case Report: We report and discuss a case of a 68-year-old Hispanic male who presented with clinical and electrocardiogram abnormalities consistent with Brugada syndrome. Discussion: The patient’s age and ethnicity represents an atypical presentation of this rare syndrome and the lack of reported studies in the literature pertaining to these demographics reflect this. Conclusion: Further studies and characterizations are necessary as manifestations continue to be unearthed. As such, Brugada Syndrome should be considered in the differential diagnosis for a myriad of patient populations.

P1000Aetiology and efficacy of atrial fibrillation ablation in young adults

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
R Zhang ◽  
I T Fazmin ◽  
A Porto ◽  
K Divulwewa ◽  
A Reddy ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Young Adults ◽  
Family History ◽  
Sudden Cardiac Death ◽  
Pulmonary Vein ◽  
Cardiac Death ◽  
Univariate Analysis ◽  
Pulmonary Vein Stenosis ◽  
Af Ablation ◽  
History Of

Abstract Introduction Little is known regarding the aetiology or outcome of atrial fibrillation (AF) occurring in young adults. This retrospective analysis was performed to explore the demographics and efficacy of AF ablation in this population. Methods Patients were included who had undergone ≥1 AF ablation under the age of 40 between 2006-2018. Recurrence was defined as return of either documented AF or previous symptoms for &gt;30s following a 3-month blanking period. Initial exploratory co-variates were included in a univariate analysis and those terms with P-value of &lt;0.1 were then used to generate a Cox proportional-hazards multivariate model. Results 124 patients (33.6 ± 4.7 yrs, 77% men), initially presenting with paroxysmal AF (pAF; n = 97) or persistent AF (n = 27), underwent 175 AF ablation procedures. 22.6% (n = 28) also had atrial flutter. Time from symptom onset to first ablation was 50.7 ± 46.2 months. Relevant cardiovascular-related demographics were analysed: hypertension in 8.9% (n = 11); diabetes in 1.6% (n = 2); positive family history of AF in 12.9% (n = 16); and family history of sudden cardiac death in 2.4% (n = 3). Mean CHA2DS2-VASc score was 0.35. Of those patients with documented echocardiogram imaging (n = 91), 26.4% (n = 24) had LA dilatation and 6.6% (n = 6) had LV dysfunction. Patients with LA dilatation underwent more ablations (2.3 ± 0.3) compared to controls (1.5 ± 0.1; p &lt; 0.001). Ablation strategy was pulmonary vein isolation (PVI) only in 67.2% (n = 119), with additional ablation in the remaining: roof line in 18.9% (n = 33); cavotricuspid isthmus line in 13.1% (n = 23); mitral isthmus line in 2.3% (n = 4); superior vena cava isolation in 2.3% (n = 4); complex fractionated atrial electrograms in 14.9% (n = 26). Mean procedure time was 155 ± 41 min, mean ablation time was 1657 ± 991 s and mean fluoroscopy time was 32.6 ± 23.4 min. General anaesthesia was used in 43.4% (n = 76). Complications included femoral haematoma (n = 2), tamponade (n = 1) and pulmonary vein stenosis (n = 2). 90 days of follow-up was available for 137 procedures performed for pAF (n = 105) and persistent AF (n = 32). For pAF, overall recurrence was 61.9% for first ablations and 62.9% overall. Recurrence was 56.3% for persistent AF. Factors significantly associated with increased AF recurrence in univariate analysis were male gender (hazard ratio (HR) 2.3, 95% confidence interval (CI): 1.2-4.4, p = 0.011), hypertension (HR 0.5, CI: 0.2-1.1, p = 0.067), family history of sudden cardiac death (HR 6.8, CI: 1.6-29.0 , p = 0.010) and enlarged LA size (HR 2.2, CI: 1.3-3.6, p = 0.003). In multivariate analysis, the only significant predictor of poor outcome was enlarged LA size (HR 2.0, 95% CI: 1.2-3.5, p = 0.011). Conclusions Young patients with AF may have structurally abnormal hearts, and therefore do not only present with lone AF. LA size may be used as a predictor for success. Surveillance imaging may be useful to detect future structural change, which will be the subject of future prospective studies. Abstract Figure. AF ablation recurrence in young adults

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