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Introduction

Sudden death, while relatively rare among young individuals, is a critically important clinical issue. The loss of a young life to sudden cardiac death brings immeasurable grief to loved ones. Even if resuscitation is successful, the aftermath can impose significant burdens. Therefore, sudden cardiac death among young people can have profound impacts on families, schools, and society as a whole.

Based on our previous research, the incidence of sudden cardiac death in Taiwan is similar to that of Western countries, ranging from 1.3 to 4.6 per 100,000 person-years. The primary cause is sudden cardiac death of psychogenic origin, accounting for approximately 42-70%. It is worth noting that unlike older adults, psychogenic sudden cardiac death in children or adolescents is rarely associated with myocardial infarction or heart failure. The main etiological factors include structural heart diseases, hereditary arrhythmia syndromes, and coronary artery anomalies, with the former two being predominant. In recent years, with advancements in genetic technology, many studies have shown that myocardial diseases and hereditary arrhythmia syndromes are genetically related. Therefore, this category of diseases is collectively referred to as genetic cardiac diseases, and related research is increasingly gaining attention.

"Genetic cardiac diseases" refers to heart diseases that are associated with genetic abnormalities or inheritance, mainly including myocardial diseases and hereditary arrhythmias. Myocardial diseases are further categorized into hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular dysplasia, and left ventricular noncompaction cardiomyopathies, among which hypertrophic, restrictive, right ventricular outflow tract, and left ventricular noncompaction cardiomyopathies all have a certain proportion of cases leading to psychogenic sudden cardiac death. Hereditary arrhythmia syndromes include long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), short QT syndrome, and early repolarization syndrome (ER). These diseases can occur at any age and may lead to syncope, severe ventricular tachycardia, or ventricular fibrillation when severe, with a significantly high proportion resulting in psychogenic sudden cardiac death.

In 2024, we established the Center of Genetic Heart Diseases,Our goal is to establish a comprehensive treatment guideline, starting from genetic screening, familial genetic testing, rapid diagnosis and risk analysis, to conducting new drug tests related to stem cell research. In the era of precision medicine, we aim to provide the best consultation, examination, and treatment options for patients with genetic heart diseases in the Asian region, with the ambition to be the pioneering genetic heart disease center in Asia.

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