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Inherited cardiomyopathies and genetic arrhythmia unit

Inherited cardiomyopathies and genetic arrhythmia unit

A specialized center for inherited heart diseases

Team

Prof. Dr. Giulio Conte
Prof. Dr. Giulio Conte
Senior Cardiologist and Head of the Inherited Cardiomyopathy and Genetic Arrhythmia Unit
Dr.ssa med. Esther Scheirlynck
Dr.ssa med. Esther Scheirlynck
Cardiologist


The team includes Mrs. Simona Solari, a Specialized Cardiology Nurse.

The inherited cardiomyopathies and genetic arrhythmia unit at Cardiocentro Ticino is dedicated to the diagnosis, treatment, and follow-up of heart diseases with a possible genetic origin.

These rare conditions may affect either the heart muscle (cardiomyopathies) or the electrical system of the heart (inherited arrhythmic syndromes). As they are often hereditary, they may affect multiple members of the same family. If not recognized and appropriately managed, these diseases may increase the risk of heart failure, stroke, malignant arrhythmias, and sudden cardiac death.

Cardiomyopathies

Hypertrophic Cardiomyopathy (HCM)
• Dilated Cardiomyopathy (DCM)
• Arrhythmogenic Cardiomyopathy (ARVC / NDLVC)
• Restrictive Cardiomyopathy (RCM)
• Storage Diseases (Fabry disease, glycogen storage disorders, etc.)
• Mitochondrial Diseases
• Neuromuscular Disorders with Cardiac Involvement
• Arrhythmic Mitral Valve Prolapse

Inherited arrhythmic syndromes

• Long QT Syndrome
• Short QT Syndrome
• Brugada Syndrome
• Catecholaminergic Polymorphic Ventricular Tachycardia
• Early Repolarization Syndrome
• Idiopathic Ventricular Fibrillation
• Early-Onset Cardiac Conduction Disorders
• Early-Onset Atrial Fibrillation

Through a multidisciplinary approach and advanced technologies, our team supports patients and their families throughout every stage of care, from diagnosis to the development of a personalized treatment strategy.

When to consult our Unit

A specialist assessment may be recommended in the presence of:

• Diagnosed or suspected cardiomyopathy
• Electrocardiographic abnormalities of unclear origin
• Episodes of fainting (syncope) or palpitations without an established cause
• Family history of inherited cardiomyopathies or arrhythmias
• Cases of sudden cardiac death within the family
• Need for a specialist second opinion
• Genetic evaluation for inherited cardiovascular diseases

What We Offer

Advanced Diagnostic Evaluation

We perform comprehensive specialist investigations to identify the cause of structural heart abnormalities or heart rhythm disorders, including:

• Resting electrocardiogram (ECG) and exercise ECG testing
• Long-term cardiac rhythm monitoring (Holter ECG, ECG patches, and implantable monitoring devices)
• Pharmacological challenge tests for the diagnosis of inherited arrhythmic syndromes (e.g., ajmaline, mexiletine, and adenosine testing)
• Advanced electrophysiological studies
• Advanced cardiac imaging assessments in collaboration with the Cardiac Imaging Service

Genetic Testing and Family Counselling

When appropriate, we offer genetic testing specifically designed for inherited cardiovascular diseases. These investigations may help to:

• Identify the underlying cause of the disease
• Guide the selection of the most appropriate treatment strategy
• Assess arrhythmic risk and provide prognostic information regarding disease progression
• Identify at-risk relatives through dedicated family screening programs (“cascade screening”)

Personalized Treatment Plans

Each patient receives an individualized management plan that may include:

• Initiation and optimization of medical therapy
• Access to innovative and targeted treatments (e.g., cardiac myosin inhibitors)
• Assessment for interventional procedures such as catheter ablation, pacemaker implantation, or implantable cardioverter-defibrillator (ICD) implantation
• Remote monitoring of implanted cardiac devices

Lifestyle Counselling

The unit also provides dedicated counselling regarding:

• Recreational and competitive sports participation
• Pregnancy and family planning
• Assessment of potential interactions between cardiovascular medications and other therapies

Psychological Support

Receiving a diagnosis of an inherited cardiac disease may have a significant emotional impact on both patients and their families. For this reason, we provide access to psychological support services aimed at offering information, guidance, and emotional support throughout the care pathway.

A Reference Center for Research and Education

The unit is recognized as a European Training Recognition Centre (ERTC) by the European Heart Rhythm Association (EHRA) and actively participates in national and international research projects dedicated to cardiomyopathies and inherited arrhythmic disorders.

Our involvement in scientific research enables patients to benefit from up-to-date expertise and access to the latest diagnostic and therapeutic innovations in the field of inherited cardiovascular diseases.

The inherited arrhythmia unit was an integral part of a research project on Brugada syndrome funded by the Swiss National Science Foundation (SNSF).

Joint unit for families with rare inherited cardiac diseases

This multidisciplinary unit is a collaboration between the pediatric cardiology service of Italian-speaking Switzerland (Dr. Corinna Leoni Foglia and Dr. Amalia Stefani Glücksberg), the EOC Medical Genetics Service (Dr. Silvia Maitz), and the inherited cardiomyopathy and genetic arrhythmia unit of Cardiocentro Ticino (Prof. Giulio Conte).

The unit was established to improve the care of patients and families affected by confirmed or suspected inherited cardiac diseases.

This joint unit provides:

• Multidisciplinary evaluation, treatment planning, and follow-up for pediatric and adult members of the same family affected by rare inherited cardiac diseases
• Structured transition of adolescent patients with inherited arrhythmias or cardiomyopathies from pediatric to adult cardiology care

Multidisciplinary cardiomyopathies board

We regularly organize a multidisciplinary cardiomyopathies board, during which complex cases are reviewed by specialists from different disciplines upon request of the referring physician or cardiologist.

The objective is to define the most appropriate diagnostic, therapeutic, and follow-up strategy based on the latest scientific evidence and the individual characteristics of each patient. Following the discussion, recommendations are shared with both the patient and the referring physicians.

 

Istituto Cardiocentro Ticino

Via Tesserete 48
CH-6900 Lugano
info.icct@eoc.ch

Riferimenti

Head of service
Prof. Dr. med. Giulio Conte
Senior Cardiologist and Head of the Inherited Cardiomyopathy and Genetic Arrhythmia Unit
Send email

Cardiologist
Dr.ssa med. Esther Scheirlynck
Send email

Secretariat

Mrs. Simona Solari Cereghetti
Specialized Cardiology Nurse
T. +41 (0) 91 811 53 92

Mrs. Susanna Longoni
T. +41 (0) 91 811 53 96
Medical assistant

Send email

Prof. Dr. Giulio Conte
Senior Cardiology

Electrophysiology and Electrostimulation