Brugada P, Brugada R, Brugada J
Cardiovascular Research and Teaching Institute, Aalst, Belgium.
Eur Heart J. 2000 Feb;21(4):321-6. doi: 10.1053/euhj.1999.1751.
The syndrome with an electrocardiographic pattern of right bundle branch block, ST segment elevation in leads V(1)to V(3)and sudden death is genetically determined and caused by mutations in the cardiac sodium channel. The inheritance of the disease is autosomal dominant. Sudden death may, however, occur from a variety of causes in relatives and patients with this syndrome.
Twenty-five Flemish families with this syndrome with a total of 334 members were studied. Affected members were recognized by means of a typical electrocardiogram either occurring spontaneously or after the intravenous administration of antiarrhythmic drugs. Sudden deaths in these families were classified as related or not to the syndrome by analysis of the data at the time of the event, mode of inheritance of the disease, and data provided by survivors. Results Of the 25 families with the syndrome, 18 were symptomatic (at least one sudden death related to the syndrome) and seven were asymptomatic (no sudden deaths related to the syndrome). In total, there were 42 sudden cardiac deaths (12% incidence). Twenty-four sudden deaths were related to the syndrome and all occurred in symptomatic families. Eighteen sudden deaths (43% of total sudden deaths) were not related to the syndrome (nine cases) or were of unclear cause (nine cases). Three of them occurred in two asymptomatic families and the remaining 15 in five symptomatic families. Twenty-four of the 50 affected members (47%) suffered (aborted) sudden death and 18 of the 284 unaffected members (6%). This difference in the incidence of sudden death was statistically significant (P<0.0001). Patients with (aborted) sudden death caused by the syndrome were younger than patients with sudden death of other or unclear causes (38+/-4 years vs 59+/-3 years respectively, P=0.0003).
In families at high risk of sudden death because of genetically determined diseases, the main cause of sudden death remains the disease. However, almost the half of sudden deaths are caused by unrelated diseases or are of unclear cause. Accurate classification of the causes of sudden death is mandatory for appropriate analysis of the causes of death when designing preventive treatments.
心电图表现为右束支传导阻滞、V（1）至V（3）导联ST段抬高且有猝死情况的综合征是由基因决定的，由心脏钠通道突变引起。该疾病的遗传方式为常染色体显性遗传。然而，患有此综合征的亲属和患者可能因多种原因发生猝死。
对25个患有该综合征的佛兰芒家族共334名成员进行了研究。通过典型心电图来识别受影响成员，这些心电图可自发出现或在静脉注射抗心律失常药物后出现。通过分析事件发生时的数据、疾病的遗传方式以及幸存者提供的数据，将这些家族中的猝死分类为与该综合征相关或不相关。结果：在25个患有该综合征的家族中，18个有症状（至少有1例与该综合征相关的猝死），7个无症状（无与该综合征相关的猝死）。总共有42例心源性猝死（发生率为12%）。24例猝死与该综合征相关，且均发生在有症状的家族中。18例猝死（占总猝死数的43%）与该综合征无关（9例）或病因不明（9例）。其中3例发生在2个无症状家族中，其余15例发生在5个有症状家族中。50名受影响成员中有24名（47%）遭遇（未遂）猝死，284名未受影响成员中有18名（6%）。猝死发生率的这种差异具有统计学意义（P<0.0001）。由该综合征导致（未遂）猝死的患者比其他原因或病因不明导致猝死的患者更年轻（分别为38±4岁和59±3岁，P=0.0003）。
在因基因决定的疾病而有猝死高风险的家族中，猝死的主要原因仍是该疾病。然而，几乎一半的猝死是由不相关疾病或病因不明导致的。在设计预防性治疗方案时，准确分类猝死原因对于恰当分析死亡原因至关重要。
