Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: the ARRHYTHMIC GENE-HEART

Обзор

The goal of this observational study is to enroll all patients evaluated at the specialized Cardiogenetic Center within the Cardiology Department of the University of Ferrara, Italy. The primary aim of the registry is to collect comprehensive clinical, genetic, and electrophysiological data from individuals with suspected or confirmed arrhythmogenic conditions. By systematically documenting patient demographics, family history, clinical presentations, diagnostic findings, and treatment outcomes, the registry seeks to enhance our understanding of the genetic basis and clinical implications of genetically driven arrhythmias and systemic syndromes. This registry will facilitate long-term follow-up of enrolled patients to assess the natural history of arrhythmogenic disorders and the effectiveness of various therapeutic interventions. Additionally, it aims to identify potential risk factors associated with adverse outcomes, such as sudden cardiac death or major arrhythmic events.

Подробное описание

Cardiogenetics is essential in daily clinical practice, providing critical insights into the genetic basis of inherited cardiovascular conditions. This knowledge enables more accurate diagnoses, risk assessments, and personalized management strategies for patients. By understanding the genetic underpinnings of arrhythmias and other heart diseases, healthcare providers can identify at-risk individuals and their family members, facilitating early intervention and preventive measures. Establishing an observational registry for these conditions is vital, as it systematically collects data on patient demographics, clinical presentations, genetic findings, and treatment outcomes. This comprehensive database enhances our understanding of the natural history and variability of genetic cardiovascular disorders while supporting research efforts aimed at developing improved diagnostic tools and therapeutic approaches. Ultimately, such a registry can enhance patient care by informing clinical guidelines and fostering collaboration among clinicians, geneticists, and researchers in the field.

Therefore, the goal of this observational study is to gather extensive clinical, genetic, and electrophysiological data from individuals with suspected or confirmed arrhythmogenic conditions. By systematically documenting patient demographics, family history, clinical presentations, diagnostic findings, and treatment outcomes, the registry aims to deepen our understanding of the genetic basis and clinical implications of genetically driven arrhythmias and systemic syndromes.

Первичные конечные точки

• All-cause of death [Срок оценки: At one and 5 years (end of the study)]
• Cardiovascular-related death [Срок оценки: At one and 5 years (end of the study)]

Вторичные конечные точки (5)

• Onset or worsening heart faillure [Срок оценки: At one and 5 years (end of the study)]
• Onset/worsening of atrial tachyarrhythmias [Срок оценки: At one and 5 years (end of the study)]
• Onset/worsening of ventricular tachyarrhythmias [Срок оценки: At one and 5 years (end of the study)]
• Need for PM/ICD [Срок оценки: At one and 5 years (end of the study)]
• Types of genetic mutations [Срок оценки: At the time of genetic analysis]

Критерии участия

Критерии включения

• Patients evaluated at the Cardiogenetic Center of the University of Ferrara in Ferrara, Italy.
• Having a proven cardiogenetic disease

Критерии исключения

• Refuse to provide informed consents
• Patients not having a cardiogenic disease

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Италия · 1 центр

• Department of Cardiology, University Hospital of Ferrara — Ferrara

Публикации

• Conte G, Wilde A, Behr ER, Scherr D, Lenarczyk R, Gandjbachkh E, Crotti L, Brugada-Sarquella G, Potpara T. Importance of Dedicated Units for the Management of Patients With Inherited Arrhythmia Syndromes. Circ Genom Precis Med. 2021 Apr;14(2):e003313. doi: 10.1161/CIRCGEN.120.003313. Epub 2021 Apr 2. No abstract available. PMID 33797288
• Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, Charron P, Corrado D, Dagres N, de Chillou C, Eckardt L, Friede T, Haugaa KH, Hocini M, Lambiase PD, Marijon E, Merino JL, Peichl P, Priori SG, Reichlin T, Schulz-Menger J, Sticherling C, Tzeis S, Verstrael A, Volterrani M; ESC Scientific Document Group. 2022 ESC Guidelines for the management of patients with ventricular arrhyth PMID 36017572
• Wilde AA, Behr ER. Genetic testing for inherited cardiac disease. Nat Rev Cardiol. 2013 Oct;10(10):571-83. doi: 10.1038/nrcardio.2013.108. Epub 2013 Jul 30. PMID 23900354
• Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and PMID 24011539

Идентификаторы

NCT: NCT06898307 · 307/2023/Oss/AOUFe

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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