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

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.

Study Overview

• Status: Recruiting
• Conditions: Genetic Disease; Cardiac Disease; Genetic Disorder; Cardiac Arrhythmias; Cardiology

Detailed Description

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.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Cristina Balla, MD PhD; Phone Number: +39 0532 239886; Email: bllcst@unife.it

Study Locations

• Italy
  • Ferrara, Italy, 44124
    • Recruiting
    • Department of Cardiology, University Hospital of Ferrara
    • Contact: Cristina Balla, MD PhD; Phone Number: +39 0532 239886; Email: bllcst@unife.it
    • Principal Investigator: Cristina Balla, MD PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Study Population

Description

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Patients with cardiogenetic disease

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
All-cause of death	The investigators will monitor patient's all causes death	At one and 5 years (end of the study)
Cardiovascular-related death	The investigators will monitor patient's all causes death	At one and 5 years (end of the study)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Onset or worsening heart faillure	The investigators will assess patient's hemodynamic stability over the years, monitoring the onset or the worsening of heart failure	At one and 5 years (end of the study)
Onset/worsening of atrial tachyarrhythmias		At one and 5 years (end of the study)
Onset/worsening of ventricular tachyarrhythmias	The investigators will monitor patient's rhythm over the years, assessing the onset or the worsening of ventricular tachyarrhythmias.	At one and 5 years (end of the study)
Need for PM/ICD	The investigators will evaluate procedural time of different cardiac pacing modalities	At one and 5 years (end of the study)
Types of genetic mutations	Types of genetic mutations	At the time of genetic analysis

Collaborators and Investigators

• Sponsor: University Hospital of Ferrara
• Investigators: Principal Investigator: Cristina Balla, MD PhD, Università degli Studi di Ferrara

Publications and helpful links

General Publications

• 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 arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2022 Oct 21;43(40):3997-4126. doi: 10.1093/eurheartj/ehac262. No abstract available.
• 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.
• 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.
• 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 AEPC in June 2013. Heart Rhythm. 2013 Dec;10(12):1932-63. doi: 10.1016/j.hrthm.2013.05.014. Epub 2013 Aug 30. No abstract available.

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2017
• Primary Completion (Estimated): November 1, 2025
• Study Completion (Estimated): November 1, 2035

Study Registration Dates

• First Submitted: March 3, 2025
• First Submitted That Met QC Criteria: March 26, 2025
• First Posted (Actual): March 27, 2025

Study Record Updates

• Last Update Posted (Actual): March 27, 2025
• Last Update Submitted That Met QC Criteria: March 26, 2025
• Last Verified: December 1, 2024

More Information

Terms related to this study

• Keywords: Cardiogenetic
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Pathologic Processes; Heart Diseases; Genetic Diseases, Inborn; Arrhythmias, Cardiac
• Other Study ID Numbers: 307/2023/Oss/AOUFe

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No