Genetic heart diseases are heart conditions associated with genetic abnormalities, including cardiomyopathies and inherited arrhythmias. Patients may experience syncope, heart failure, or even sudden cardiac death.
Our team has long been dedicated to the research, diagnosis, and management of genetic heart diseases, focusing on ion channel disorders and cardiac sudden death. Our studies encompass epidemiology, risk factors, and investigations of specific genetic variants.
To provide comprehensive and integrated medical care, National Taiwan University Hospital and National Taiwan University Children’s Hospital jointly established the Center for Genetic Heart Diseases. The center offers a full spectrum of services—from disease screening, imaging, genetic and electrophysiological diagnosis, to pharmacological and interventional treatments for arrhythmias—delivering the most advanced and holistic care for patients.
Past research by our team on genetic heart diseases:
Our team has been dedicated to the study of genetic heart diseases for many years. Through analysis of Taiwan’s National Health Insurance database, we found that the annual incidence of sudden cardiac death among individuals aged 1 to 18 is 2.7 per 100,000, similar to rates reported in other countries. The highest incidence occurs among those aged 1–2 years, the lowest among 11–12 years, and males are predominantly affected.
A comparison of cumulative incidence between Taiwan and the United States showed that, by age 14, the cumulative rate of sudden death in Taiwan was 0.59 per 1,000, comparable to 0.54 per 1,000 in the U.S., and the incidence gradually decreases with age.
Since 2008, the incidence of sudden death has declined, likely due to public education and health promotion efforts, such as information included in infant health handbooks. Further studies revealed that 19.1% of patients who suffered sudden death had prior cardiac diagnoses, including congenital heart disease, cardiomyopathy, and myocarditis. Among those who received resuscitation, 39.3% subsequently died, and 19.7% developed severe neurological sequelae.
For survivors of sudden cardiac arrest, genetic testing revealed a diagnostic yield of 84.6%. Common findings included Long QT syndrome (LQTS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), and cardiomyopathies. The 10-year survival rate was 87.8%, and genetic testing was associated with improved survival. Among these patients, 55.6% received implantable cardioverter-defibrillators (ICDs), and appropriate genetic diagnosis and treatment significantly reduced shock incidence.
School-based electrocardiogram (ECG) screening has proven effective in identifying high-risk groups for sudden cardiac death, including those with Wolff-Parkinson-White (WPW) syndrome, Long QT syndrome, cardiomyopathies, and Marfan syndrome. ECG findings and medical history were found to be the most effective screening tools.
Regarding cardiomyopathies, database studies on dilated cardiomyopathy (DCM) revealed that incidence is highest in infants, lowest between ages 5–14, and rises again thereafter. Mortality among pediatric patients was higher than in adults (11.4% vs. 1.5%), though the sudden death rate was similar, at 1.13 per 100,000.
In studies of hypertrophic cardiomyopathy (HCM), patients were found to have higher rates of atrial fibrillation and sudden cardiac death. Genetic testing showed that patients with gene mutations tended to develop symptoms at a younger age, were more likely to progress to diastolic heart failure, and had higher NT-proBNP levels. Cardiac MRI demonstrated that patients with genetic variants exhibited more late gadolinium enhancement, larger left atria, higher peak filling rates, and lower global longitudinal strain.
These findings collectively highlight the critical prognostic value of genetic testing in patients with cardiomyopathies and in the prevention of sudden cardiac death.
The necessity of establishing a Center for Genetic Heart Diseases:
Although numerous studies on genetic heart diseases have been conducted in the past, these efforts were often separated between pediatrics and internal medicine, resulting in a lack of integrated data. Genetic testing plays a crucial role in diagnosing such conditions. However, earlier testing methods could only detect known cardiac-related genes and were unable to identify unreported or rare genetic variants, leading to potential omissions.
With the introduction of new testing technologies that perform family-based genetic analyses—simultaneously examining the genes of parents and children—it is now possible to more accurately correlate genotypes and phenotypes, thereby improving diagnostic accuracy. Moreover, this approach allows for the discovery of previously unknown genetic variants, paving the way for future therapeutic and research directions.
Implementation methods include:
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Enhancing genetic heart disease screening models, including school-based and family-based screening programs.
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Developing a new WES-based rapid trio genetic testing approach, integrating digital imaging and electrophysiological data to analyze genotype-phenotype correlations and identify prognostic factors. Based on these findings, establishing medical strategies and treatment guidelines specific to the Taiwanese and broader Asian population.
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Establishing a standardized genetic counseling process and designing a “Genetic Heart Disease Passport” to promote patient-centered care. Creating a streamlined referral system and nationwide collaboration network, while organizing regular symposiums to provide feedback and support to referring hospitals. Strengthening international partnerships to foster global medical collaboration.
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Advancing precision therapies for the new generation of genetic diseases: for patients with poor treatment responses, using induced pluripotent stem cell (iPSC)-derived cardiomyocytes to study disease mechanisms and drug targets, thereby developing novel therapeutic strategies.
