A female patient of Brugada syndrome with an episode of ventricular fibrillation and family history of sudden death

Introduction. Brugada syndrome is an arrhythmogenic disease characterized by coved ST segment elevation and J point elevation of at least 2 mm in at least two of the right precordial ECG leads (V1-3) and ventricular arrhythmias, syncope, and sudden death. Risk stratifications of patients with Brugada electrocardiogram are being strongly debated. Case Outline. A 23-year-old man was admitted to the Coronary Care Unit of the Clinical Centre ?Bezanijska kosa? due to weakness, fatigue and chest discomfort. The patient suffered from fainting and palpitations. There was a family history of paternal sudden death at 36 years. Electrocardiogram showed a coved ST segment elevation of 4 mm in leads V1 and V2, recognised as spontaneous type 1 Brugada pattern. Laboratory investigations revealed normal serum cardiac troponin T and serum potassium, and absence of inflammation signs. Echocardiographic finding was normal, except for a mild enlargement of the right atrium and ventricle. The diagnosis of Brugada syndrome was made by Brugada-type 1 electrocardiogram and the family history of sudden death <45 years. The patient was considered as a high risk, because of pre-syncope and palpitations. He underwent ICD implantation (Medtronic MaximoVR7232Cx) using the standard procedure. After implantation, noninvasive electrophysiology study was done and demonstrated inducible VF that was interrupted with the second 35 J DC shock. The patient was discharged in stable condition with beta-blocker therapy. After a year of pacemaker check-ups, there were no either VT/ VF events or ICD therapy. Conclusion. Clinical presentation is the most important parameter in risk stratification of patients with Brugada electrocardiogram and Brugada syndrome.

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A case of asymptomatic Brugada syndrome woman with family history of sudden death

Japanese Journal of Electrocardiology ◽

10.5105/jse.26.suppl4_36 ◽

2006 ◽

Vol 26 (Suppl4) ◽

pp. 36-41

Author(s):

Yasuaki Tanaka ◽

Noriyoshi Yamawake ◽

Saori Niki ◽

Tatsuya Hayashi ◽

Kotaro Miyaji ◽

...

Keyword(s):

Family History ◽

Sudden Death ◽

Brugada Syndrome ◽

History Of

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Abstract 2143: Clinical Impact of the Hot-Bath Test in Patients with Brugada Syndrome

Circulation ◽

10.1161/circ.118.suppl_18.s_674-c ◽

2008 ◽

Vol 118 (suppl_18) ◽

Author(s):

Aiko Mori ◽

Kengo Kusano ◽

Satoshi Nagase ◽

Kazufumi Nakamura ◽

Hiroshi Morita ◽

...

Keyword(s):

Family History ◽

High Risk ◽

Sudden Death ◽

Brugada Syndrome ◽

Ecg Changes ◽

History Of ◽

Hot Bath ◽

St Elevation ◽

Group 2 ◽

Scn5a Mutation

Background: Hot-bath related sudden death is sometimes observed and it is well known that fever aggravates ventricular arrhythmias in Brugada syndrome. Accordingly we examined the ECG changes during Hot-bath to identify high risk Brugada patients. Methods: Total 31 Brugada patients [clinically documented ventricular fibrillation (VF) in 12] were examined. Waterproof Holter-ECGs (modified-NASA: the point at a maximum ST-elevation) during Hot-bath were recorded and compared with ECGs during sodium channel blocker (pilsicainide) administration. We also compared ECG changes with the clinical characteristics (SCN5A mutation, family history of sudden death and syncopal episode). Results: Taking Hot-bath rose body temperature from 36.4±0.4°C to 38.1±1.8°C and increased ST-level significantly (0.17±0.15 to 0.31±0.25mV, P=0.0001). One patient developed VF (figure) during Hot-bath in whom ST-level was more elevated than that during pilsicainide administration. In accordance with ST-level change during Hot-bath and pilsicainide administration, we divided into two groups. Group 1 (n=11): ST-level was more elevated during Hot-bath than pilsicainide administration, and Group 2 (n=20): ST-level was less elevated during Hot-bath than pilsicainide administration. Family history of sudden death was more observed in Group1 (46%) than Group 2 (10%, P=0.02), but other parameters were not different between the groups. Conclusion: Hot-bath aggravates ST-elevation in Brugada patients. Hot-Bath test would be useful to identify high risk Brugada patients.

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Three female cases of Brugada syndrome with multiple family history of sudden death in male members

Japanese Journal of Electrocardiology ◽

10.5105/jse.26.suppl4_53 ◽

2006 ◽

Vol 26 (Suppl4) ◽

pp. 53-58

Author(s):

Junjiroh Koyama ◽

Toshihiro Honda ◽

Yukinari Odagawa ◽

Takashi Honda

Keyword(s):

Family History ◽

Sudden Death ◽

Brugada Syndrome ◽

History Of

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Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

International Journal of Molecular Sciences ◽

10.3390/ijms22094700 ◽

2021 ◽

Vol 22 (9) ◽

pp. 4700

Author(s):

Michelle M. Monasky ◽

Emanuele Micaglio ◽

Giuseppe Ciconte ◽

Ilaria Rivolta ◽

Valeria Borrelli ◽

...

Keyword(s):

Genetic Testing ◽

Family History ◽

Risk Stratification ◽

Brugada Syndrome ◽

Electrophysiological Study ◽

Functional Characterization ◽

The Family ◽

Novel Variant ◽

History Of ◽

Scn5a Gene

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

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Recurrent Seizure and a Family History of Sudden Death

10.1542/9781581104851-part03-ch24 ◽

2020 ◽

pp. 177-183

Keyword(s):

Family History ◽

Sudden Death ◽

Recurrent Seizure ◽

History Of

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Bilateral maxillary palatal talon cusps in deciduous central incisors

BMJ Case Reports ◽

10.1136/bcr-2018-227596 ◽

2019 ◽

Vol 12 (2) ◽

pp. e227596

Author(s):

Jehan AlHumaid

Keyword(s):

Family History ◽

Female Patient ◽

Saudi Arabian ◽

Consanguineous Marriage ◽

Deciduous Dentition ◽

Pulp Tissue ◽

History Of

‘Talon cusp’ is a developmental dental disturbance characterised by a cuspal projection in the cingulum area or cementoenamel junction, with normal enamel and dentin containing varying degrees of pulp tissue. The prevalence of talon cusp varies with race, age and the criteria used for diagnosis. It has been reported in the maxillary and mandibular arches of both the deciduous and permanent dentitions. The prevalence of the talon cusp in the deciduous dentition is reported to be 2.1% in Saudi Arabian subjects. The purpose of this paper is to report the rare bilateral presence of talon cusps on the deciduous maxillary central incisors of a 4-year-old female patient with a family history of consanguineous marriage.

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