scholarly journals Low rate of life‐threatening events and limitations in predicting invasive and noninvasive markers of symptoms in a cohort of type 1 Brugada syndrome patients: Data and insights from the GenBra registry

2020 ◽  
Vol 31 (11) ◽  
pp. 2920-2928 ◽  
Author(s):  
Luciana Sacilotto ◽  
Mauricio I. Scanavacca ◽  
Natália Olivetti ◽  
Carolina Lemes ◽  
Gabrielle D. Pessente ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Life Threatening ◽  
Noninvasive Markers ◽  
Low Rate

scholarly journals Brugada syndrome in a young patient with type 1 myotonic dystrophy requiring an implantable cardioverter defibrillator for primary prevention: a case report

2019 ◽  
Vol 3 (2) ◽  
Author(s):  
Panagiotis Korantzopoulos ◽  
Aris Bechlioulis ◽  
Lampros Lakkas ◽  
Katerina K Naka
Keyword(s):  
Ventricular Tachycardia ◽  
Myotonic Dystrophy ◽  
Brugada Syndrome ◽  
Adult Life ◽  
Polymorphic Ventricular Tachycardia ◽  
Invasive Treatment ◽  
Drug Induced ◽  
Life Threatening ◽  
Cardiac Manifestations

Abstract Background  Cardiac electrical disturbances represent the most frequent cardiac manifestations of myotonic dystrophy Type 1 (MD1). Limited data suggest that the prevalence of Brugada syndrome in MD1 may be increased compared to the general population. Case summary  We report a case of a 22-year-old asymptomatic man with repolarization abnormalities in leads V1–V3 suggestive of Type III Brugada pattern. The patient had a family history of MD and incidents of sudden death in relatives. Drug-induced Brugada Type 1 syndrome was revealed after procainamide challenge. A ventricular stimulation study was positive since a polymorphic ventricular tachycardia was induced after two extrastimuli. The patient underwent implantation of a single chamber cardiac defibrillator (ICD). Eight months after the procedure he suffered an appropriate ICD shock due to rapid polymorphic ventricular tachycardia. Discussion  Brugada syndrome is linked with MD1. Potential life-threatening arrhythmias may develop in the adult life of MD1 patients. Electrocardiographic surveillance and tailored invasive treatment with ICDs can prevent sudden cardiac death in this setting.

scholarly journals 429 Incidence and management of adverse events among COVID-19 vaccination receipts with Brugada syndrome. Results from a multicentre-prospective European registry

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Rosa Cetera ◽  
Francesco Santoro ◽  
Domenico Gianfrancesco ◽  
Girolamo D’Arienzo ◽  
Francesco Bartolomucci ◽  
...  
Keyword(s):  
Body Temperature ◽  
Adverse Events ◽  
Brugada Syndrome ◽  
Inherited Disease ◽  
Increased Risk ◽  
Life Threatening ◽  
Inflammatory Drugs ◽  
Type 3

Abstract Aims Patients with Brugada syndrome have an increased risk of life-threatening arrhythmias when experience fever. Therefore, a prompt treatment of non-steroidal anti-inflammatory drugs (NSAI) is suggested in these patients. COVID-19 vaccination can be associated with fever in about 20% of patients. The aim of the study is to evaluate the incidence and management of adverse events within 48 h from COVID-19 vaccination among Brugada patients. Methods and results Eighty patients were enrolled from a prospective registry involving four European hospitals with a dedicated inherited disease ambulatory. Cardiological follow-up was performed within one month from vaccination. Mean age was 47 ± 17 years, 80% (num = 63) were male. Prevalence of Brugada types 1, 2, and 3 was as follows: 25% type 1, 39% type 2, and 24% type 3. Twenty-six percent of patients had an implantable cardioverter defibrillator (ICD). Within in 48 h from vaccination, 35% (num = 28) of patients experienced joint paint, 19% (num = 15) fever and 4% (num = 3) chest pain. In 8 out of 15 fever episodes body temperature was ≥38 degrees and treated with NSAI drugs. No patients had syncope or fatigue episodes and no arrhythmic episodes were recorded in patients with ICD. Conclusions About 20% of patients experienced fever after Covid-19 vaccination but no patient experienced life-threatening arrhythmias. Careful evaluation of body temperature and administration of NSAI in case of temperature higher than 38 is suggested.

scholarly journals Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 218
Author(s):  
Antonella Cacchione ◽  
Alessia Carboni ◽  
Mariachiara Lodi ◽  
Rita De Vito ◽  
Andrea Carai ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Correct Diagnosis ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Detection Techniques ◽  
Life Threatening ◽  
Magnetic Resonance Imaging Mri ◽  
Diagnostic Work ◽  
Radiological Methods

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.

scholarly journals Left Axis Deviation in Brugada Syndrome: Vectorcardiographic Evaluation during Ajmaline Provocation Testing Reveals Additional Depolarization Abnormalities

2021 ◽  
Vol 22 (2) ◽  
pp. 484
Author(s):  
Martijn H. van der Ree ◽  
Jeroen Vendrik ◽  
Jan A. Kors ◽  
Ahmad S. Amin ◽  
Arthur A. M. Wilde ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Brugada Syndrome ◽  
Right Ventricular Outflow Tract ◽  
Ventricular Outflow Tract ◽  
Conduction Delay ◽  
Channel Blockers ◽  
Axis Deviation ◽  
Provocation Testing ◽  
The Right

Patients with Brugada syndrome (BrS) can show a leftward deviation of the frontal QRS-axis upon provocation with sodium channel blockers. The cause of this axis change is unclear. In this study, we aimed to determine (1) the prevalence of this left axis deviation and (2) to evaluate its cause, using the insights that could be derived from vectorcardiograms. Hence, from a large cohort of patients who underwent ajmaline provocation testing (n = 1430), we selected patients in whom a type-1 BrS-ECG was evoked (n = 345). Depolarization and repolarization parameters were analyzed for reconstructed vectorcardiograms and were compared between patients with and without a >30° leftward axis shift. We found (1) that the prevalence of a left axis deviation during provocation testing was 18% and (2) that this left axis deviation was not explained by terminal conduction slowing in the right ventricular outflow tract (4th QRS-loop quartile: +17 ± 14 ms versus +13 ± 15 ms, nonsignificant) but was associated with a more proximal conduction slowing (1st QRS-loop quartile: +12[8;18] ms versus +8[4;12] ms, p < 0.001 and 3rd QRS-loop quartile: +12 ± 10 ms versus +5 ± 7 ms, p < 0.001). There was no important heterogeneity of the action potential morphology (no difference in the ventricular gradient), but a left axis deviation did result in a discordant repolarization (spatial QRS-T angle: 122[59;147]° versus 44[25;91]°, p < 0.001). Thus, although the development of the type-1 BrS-ECG is characterized by a terminal conduction delay in the right ventricle, BrS-patients with a left axis deviation upon sodium channel blocker provocation have an additional proximal conduction slowing, which is associated with a subsequent discordant repolarization. Whether this has implications for risk stratification is still undetermined.

scholarly journals EXPRESS: Pulmonary Hypertension Associated With Neurofibromatosis Type 2

2021 ◽  
pp. 204589402110295
Author(s):  
Hirohisa Taniguchi ◽  
Tomoya Takashima ◽  
Ly Tu ◽  
Raphaël Thuillet ◽  
Asuka Furukawa ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Remodeling ◽  
Life Threatening ◽  
History Of ◽  
Pulmonary Arterial ◽  
First Time

Although precapillary pulmonary hypertension (PH) is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown. Herein, we report a case of a 44-year-old woman who was initially diagnosed with idiopathic pulmonary arterial hypertension (IPAH) and treated with PAH-specific combination therapy. However, a careful assessment for a relevant family history of the disease and genetic testing reveal that this patient had a mutation in the NF2 gene. Using immunofluorescence and Western blotting, we demonstrated a decrease in endothelial NF2 protein in lungs from IPAH patients compared to control lungs, suggesting a potential role of NF2 in PAH development. To our knowledge, this is the first time that precapillary PH has been described in a patient with NF2. The altered endothelial NF2 expression pattern in PAH lungs should stimulate work to better understand how NF2 is contributing to the pulmonary vascular remodeling associated to these severe life-threatening conditions.

MULTISYSTEM INFLAMMATORY SYNDROME IN CHILDREN ASSOCIATED WITH COVID-19 IN THE 6-YEAR-OLD PATIENT WITH MANIFESTATION OF TYPE 1 DIABETES MELLITUS WITH DIABETIC KETOACIDOSIS

2021 ◽  
Vol 100 (2) ◽  
pp. 295-300
Author(s):  
Yu.V. Tikhonovich ◽  
◽  
A.Yu. Rtishchev ◽  
A.A. Glazyrina ◽  
D.Yu. Ovsyannikov ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Diabetic Ketoacidosis ◽  
Clinical Observation ◽  
Laboratory Data ◽  
Domestic Literature ◽  
Life Threatening ◽  
Inflammatory Syndrome

For the first time in the domestic literature, the article presents a clinical observation of multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19 in the 6-year-old patient with manifestation of type 1 diabetes mellitus (T1DM) in the form of diabetic ketoacidosis. Anamnestic, clinical and laboratory data are presented on the basis of which two life-threatening diseases was diagnosed, as well as tactics of therapy, which made it possible to achieve a positive result. This clinical observation is compared with observations of foreign colleagues. Possible pathogenetic mechanisms of MIS-C and T1DM comorbidity are discussed.

Congenital ADAMTS-13 deficiency presenting as life-threatening thrombosis during pregnancy

2021 ◽  
Vol 14 (8) ◽  
pp. e239901
Author(s):  
Faheema Hasan ◽  
Anshul Gupta ◽  
Dinesh Chandra ◽  
Soniya Nityanand
Keyword(s):  
Late Presentation ◽  
Fresh Frozen Plasma ◽  
Artery Thrombosis ◽  
Fresh Frozen ◽  
Life Threatening ◽  
A Disintegrin And Metalloproteinase ◽  
Thrombospondin Type 1 Repeats ◽  
Frozen Plasma ◽  
Plasma Infusions

Thrombotic thrombocytopenic purpura (TTP) is a life-threatening disease characterised by thrombocytopenia, microangiopathic haemolytic anaemia and microvascular thrombosis. Congenital TTP accounting for less than 5% of all TTP cases can have a late presentation in adulthood mostly triggered by predisposing factors such as infection, pregnancy and inflammation. We present a case of a 23-year-old woman who presented to us in the postpartum period with mesenteric artery thrombosis with infarcts and later was diagnosed as a case of TTP based on congenital a disintegrin and metalloproteinase with thrombospondin type 1 repeats 13 (ADAMTS-13) deficiency detected on ADAMTS-13 levels and gene sequencing. She was successfully managed initially with therapeutic plasma exchanges and is now on prophylactic fortnightly fresh frozen plasma infusions at 15 mL/kg body weight and continues to be in remission.

P945What is the role of late-potentials determined by signal-averaged ECG in predicting flecainide provocative test in brugada pattern?

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
J Brito ◽  
N Cortez-Dias ◽  
N Nunes-Ferreira ◽  
I Aguiar-Ricardo ◽  
G Silva ◽  
...  
Keyword(s):  
Risk Stratification ◽  
Brugada Syndrome ◽  
Fold Increase ◽  
Diagnostic Study ◽  
Late Potentials ◽  
Qrs Complex ◽  
Provocative Test ◽  
Sudden Cardiac Death Risk ◽  
Brugada Pattern

Abstract Introduction The sudden cardiac death risk in Brugada Syndrome (BrS) is higher in patients with spontaneous type 1 pattern. Brugada diagnosis is also established in patients with induced type 1 morphology after provocative test with intravenous administration with a sodium blocker channel. Nevertheless, this group of patients is known to be at a lower risk of SCD, and their risk stratification is still a matter of discussion.  Late potentials (LP) detected on signal-averaged ECG (SAECG) on the RVOT have been previously proposed as a predictor factor for BrS, even though data is lacking on its value. Purpose To evaluate the association between positive LP (LMS40&gt; 38ms) on SAECG with modified Brugada leads and a positive flecainide test in patients with non-type 1 BrS. Methods Retrospective single-center study of non-type 1 BrS patients referred for the performance of a flecainide provocative test. Patients presenting with spontaneous type 1 morphology were excluded from the study. Study of LP on SAECG with modified leads for Brugada were evaluated before administration of flecainide [2mg/kg (maximum150mg), for 10minutes] with determination of filtered QRS duration (fQRS), root mean square voltage of the last 40ms of the QRS complex (RMS40) and duration of low amplitude signals &lt;40μV of the terminal QRS complex (LMS40). Results 126 patients (47.3 ± 14.1 years, 61.9% males) underwent study with LP SAECG and flecainide test. Among these patients, 7.9% were symptomatic and 16.7% had familiar history of BrS. Flecainide test was positive in 46.8% of patients. In patients with a positive flecainide test, 64.4% presented LMS40 &gt; 38ms whereas LMS40 &gt; 38ms was present in only 46% of those with a negative flecainide test (p = 0.031). The presence of positive LMS40 was a positive predictor for a positive flecainide test, associated with a two-fold increase likelihood in the induction of a Brugada pattern (OR: 2,12; IC95% 1,025-4,392; P = 0,043). There was no association between fQRS or RMS40 and a positive flecainide test (p = NS). fQRS &gt; 114ms and RMS40 &lt;20uV was present in 22% and 61% of patients with a positive flecainide test, respectively. Conclusion In patient with non-type 1 Brugada syndrome, LMS40 &gt; 38ms in SAECG was a predictor for a positive flecainide test, suggesting that this finding could be helpful on the risk stratification of patients undergoing diagnostic study for Brugada syndrome. Abstract Figure. Effect of LMS 40 in flecainide test

scholarly journals Sudden Cause of Cardiac Death—Be Aware of Me: A Case Report and Short Review on Brugada Syndrome

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Jagadeesh K. Kalavakunta ◽  
Vishwaroop Bantu ◽  
Hemasri Tokala ◽  
Mihas Kodenchery
Keyword(s):  
Brugada Syndrome ◽  
Past History ◽  
Short Review ◽  
Case Presentation ◽  
St Segment Elevation ◽  
First Case ◽  
St Segment ◽  
The Right ◽  
Malignant Arrhythmias

Introduction. Brugada syndrome accounts for about 4% of sudden cardiac deaths (SCD). It is characterized by an ST-segment elevation in the right precordial electrocardiogram (EKG) leads.Case Presentation. We describe a 39-year-old healthy Caucasian man who was admitted to the intensive care unit after being cardioverted from ventricular fibrillation (VF) arrest. His past history was significant for an episode of syncope one month prior to this presentation for which he was admitted to an outlying hospital. EKG during that admission showed ST elevations in V1 and V2 leads, a pattern similar to Type 1 Brugada. A diagnosis of Brugada syndrome was missed and the patient had a cardiac arrest a month later. We discuss a short review of Brugada syndrome and emphasize the need to look for it in patients presenting with SCD and malignant arrhythmias.Conclusion. Physicians should always consider Brugada syndrome in the differential diagnosis of ST-segment elevation in anterior precordial leads of EKG and associated VT/VF. Although more than 17 years have passed since the first case was reported, increased awareness of this syndrome is needed to identify patients with EKG changes and treat them accordingly to prevent incidence of (SCD) and its deleterious complications.

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