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Genetics of channelopathies associated with sudden cardiac death

机译:与心脏猝死相关的通道病的遗传学

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摘要

Recent technological advances in cardiology have resulted in new guidelines for the diagnosis,treatment and prevention of diseases. Despite these improvements, sudden death remains one of themain challenges to clinicians because the majority of diseases associated with sudden cardiac deathare characterized by incomplete penetrance and variable expressivity. Hence, patients may be unawareof their illness, and physical activity can be the trigger for syncope as first symptom of the disease.Most common causes of sudden cardiac death are congenital alterations and structural heart diseases,although a significant number remain unexplained after comprehensive autopsy. In these unresolvedcases, channelopathies are considered the first potential cause of death. Since all these diseases are ofgenetic origin, family members could be at risk, despite being asymptomatic. Genetics has alsobenefited from technological advances, and genetic testing has been incorporated into the suddendeath field, identifying the cause in clinically affected patients, asymptomatic family members andpost-mortem cases without conclusive diagnosis. This review focuses on recent advances in thegenetics of channelopathies associated with sudden cardiac death
机译:心脏病学方面的最新技术进步为疾病的诊断,治疗和预防提供了新的指南。尽管有这些改进,但是猝死仍然是临床医生面临的主要挑战之一,因为与心脏猝死相关的大多数疾病的特征是不完全的外在表现和可变的表达能力。因此,患者可能没有意识到自己的病情,体力活动可能是晕厥成为该病的首发症状的原因。突发性心源性猝死的最常见原因是先天性改变和结构性心脏病,尽管在进行全面尸检后仍然有很多原因无法解释。在这些未解决的病例中,通道病被认为是首要的潜在死亡原因。由于所有这些疾病都是遗传性的,因此尽管无症状,家庭成员仍可能处于危险之中。遗传学也得益于技术进步,基因检测已被纳入突如其来的死亡领域,从而确定了没有明确诊断的临床受影响患者,无症状家庭成员和死后病例的病因。这篇综述着重于与心脏猝死相关的通道病的遗传学的最新进展。

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