Brugada Syndrome in a Family With a High Mortality Rate
Brugada Syndrome in a Family With a High Mortality Rate
Introduction Brugada syndrome is a hereditary arrhythmia characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death, with an apparent absence of structural abnormalities or ischemic heart disease. To date, mutations in the sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene are estimated to account for approximately 28% of Brugada syndrome probands.
Case presentation We report the case of a 32-year-old mixed-race Brazilian man who is sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene mutation-negative with a type 1 Brugada electrocardiographic pattern and a history of high family mortality, including five sudden deaths among relatives of whom four were first-degree relatives.
Conclusion To the best of our knowledge, this is the first case of a patient who has Brugada syndrome and a history of sudden death in four first-degree family members. This case report reinforces the evidence that genetic studies are of limited use while determining risk but remain helpful for diagnosis, and that diagnosis via electrocardiography is of great importance in preventing adverse events and stratifying risk. Although there are several technologically advanced diagnostic tools, they might not be accessible in small towns and hospitals; however, a basic diagnostic tool like electrocardiography is easily accessible.
Brugada syndrome (BrS) is a hereditary arrhythmia characterized by a specific electrocardiographic (ECG) pattern and an increased risk of sudden cardiac death, with an apparent absence of structural abnormalities or ischemic heart disease. BrS has a worldwide prevalence of 1 in 2000 individuals and an autosomal dominant inheritance pattern with incomplete penetrance. The syndrome generally affects young adult men, and the first clinical symptoms normally occur at the age of approximately 40 years.
A definitive diagnosis of BrS is made when a type 1 Brugada ECG pattern (abbreviated as BrS-ECG+) is observed in more than one right precordial lead (V1 to V3) in the presence or absence of a sodium channel blocking agent, together with one of the following conditions: documented ventricular fibrillation, polymorphic ventricular tachycardia, family history of sudden death at an age younger than 45 years, presence of a BrS-ECG+ in family members, and inducibility of ventricular arrhythmia with programmed electrical stimulation, syncope, or nocturnal agonal respiration.
BrS is a disease with a strong genetic basis. Mutations in the sodium channel, voltage-gated, type V, alpha subunit (SCN5A) gene leading to a loss of function of the cardiac sodium channel by different mechanisms is the most common genotype found among patients with BrS. In addition to SCN5A alterations, mutations in the glycerol-3-phosphate dehydrogenase 1-like (GPD1L) gene cause abnormal trafficking of the cardiac sodium channel to the cell surface and a reduction of approximately 50% of the inward sodium current. To date, mutations in the SCN5A and GPD1L genes are estimated to account for approximately 18% to 30% and 11% to 12% of BrS probands, respectively; the prevalence of variants in other disease-related genes (such as CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, and HCN4) is yet unknown.
We report the case of a patient who is SCN5A and GPD1L mutation-negative BrS-ECG+ and who has a history of high family mortality, including five sudden deaths among relatives of whom four were first-degree relatives. To the best of our knowledge, this is the first case report of a patient who has BrS with a history of sudden death in four first-degree family members.
Abstract and Introduction
Abstract
Introduction Brugada syndrome is a hereditary arrhythmia characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death, with an apparent absence of structural abnormalities or ischemic heart disease. To date, mutations in the sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene are estimated to account for approximately 28% of Brugada syndrome probands.
Case presentation We report the case of a 32-year-old mixed-race Brazilian man who is sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene mutation-negative with a type 1 Brugada electrocardiographic pattern and a history of high family mortality, including five sudden deaths among relatives of whom four were first-degree relatives.
Conclusion To the best of our knowledge, this is the first case of a patient who has Brugada syndrome and a history of sudden death in four first-degree family members. This case report reinforces the evidence that genetic studies are of limited use while determining risk but remain helpful for diagnosis, and that diagnosis via electrocardiography is of great importance in preventing adverse events and stratifying risk. Although there are several technologically advanced diagnostic tools, they might not be accessible in small towns and hospitals; however, a basic diagnostic tool like electrocardiography is easily accessible.
Introduction
Brugada syndrome (BrS) is a hereditary arrhythmia characterized by a specific electrocardiographic (ECG) pattern and an increased risk of sudden cardiac death, with an apparent absence of structural abnormalities or ischemic heart disease. BrS has a worldwide prevalence of 1 in 2000 individuals and an autosomal dominant inheritance pattern with incomplete penetrance. The syndrome generally affects young adult men, and the first clinical symptoms normally occur at the age of approximately 40 years.
A definitive diagnosis of BrS is made when a type 1 Brugada ECG pattern (abbreviated as BrS-ECG+) is observed in more than one right precordial lead (V1 to V3) in the presence or absence of a sodium channel blocking agent, together with one of the following conditions: documented ventricular fibrillation, polymorphic ventricular tachycardia, family history of sudden death at an age younger than 45 years, presence of a BrS-ECG+ in family members, and inducibility of ventricular arrhythmia with programmed electrical stimulation, syncope, or nocturnal agonal respiration.
BrS is a disease with a strong genetic basis. Mutations in the sodium channel, voltage-gated, type V, alpha subunit (SCN5A) gene leading to a loss of function of the cardiac sodium channel by different mechanisms is the most common genotype found among patients with BrS. In addition to SCN5A alterations, mutations in the glycerol-3-phosphate dehydrogenase 1-like (GPD1L) gene cause abnormal trafficking of the cardiac sodium channel to the cell surface and a reduction of approximately 50% of the inward sodium current. To date, mutations in the SCN5A and GPD1L genes are estimated to account for approximately 18% to 30% and 11% to 12% of BrS probands, respectively; the prevalence of variants in other disease-related genes (such as CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, and HCN4) is yet unknown.
We report the case of a patient who is SCN5A and GPD1L mutation-negative BrS-ECG+ and who has a history of high family mortality, including five sudden deaths among relatives of whom four were first-degree relatives. To the best of our knowledge, this is the first case report of a patient who has BrS with a history of sudden death in four first-degree family members.
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