Inherited heart diseases are genetic or hereditary conditions that can impact multiple family members. These include familial cardiomyopathies, channelopathies (hereditary arrhythmias), and aortopathies. While many are rare, some, like hypertrophic cardiomyopathy, affect as many as 1 in 500 people.
In our Inherited Heart Diseases and Sudden Death Unit, we have a highly qualified team, continuously trained and specialized in diagnosing and treating different types of cardiopathies, such as hereditary congenital heart disease or chronic ischemic heart disease. We thoroughly evaluate each case using the most advanced techniques to detect genetic mutations and assess the risk of severe complications, such as sudden cardiac death or heart failure.
Additionally, we conduct clinical and genetic studies on family members to identify individuals at risk of developing congenital and/or hereditary heart disease. This allows us to provide comprehensive and personalized care, focused on prevention and monitoring those who may be affected.
Familial cardiomyopathies are diseases of the heart muscle, often hereditary, that can affect its structure and function. The most common are hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy/dysplasia. Rarer types include restrictive cardiomyopathy and syndromic, metabolic, or storage cardiomyopathies (amyloidosis, Anderson-Fabry, Friedreich's ataxia, RASopathies, glycogen storage diseases, etc.).
Channelopathies are diseases that influence the heart's electrical activity, causing malignant arrhythmias. These include: Brugada syndrome, Long QT and Short QT syndrome, Catecholaminergic polymorphic ventricular tachycardia, Early repolarization syndrome, Idiopathic ventricular fibrillation, Familial atrial fibrillation, Early and/or familial disorders of the sinus node and/or cardiac conduction and Familial sudden death
Aortopathies are diseases affecting the aortic artery wall. They are classified into two main groups:
- Syndromic aortopathies associated with other disorders: Marfan syndrome, Loeys-Dietz syndrome, vascular involvement in Ehlers-Danlos syndrome, and Turner syndrome.
- Non-syndromic aortopathies, such as thoracic aortic aneurysms or dissections not associated with other manifestations.
In our clinic, we apply the latest advances in molecular diagnostics to identify the genetic causes of familial cardiomyopathies. This allows us to confirm suspicions, assess risks, and prevent adverse events. We combine genetic and clinical information to determine the extent of each patient's condition, using advanced tests such as echocardiograms, MRIs, CT scans, stress tests, heart rhythm monitoring, electrophysiological studies, and cardiac biopsies. Our personalized approach ensures an accurate diagnosis and a tailored treatment plan for each type of cardiomyopathies.
Treatment for familial cardiopathies focuses on preventing arrhythmias, heart failure, and other associated complications. The main goal is to reduce the risk of sudden cardiac death and improve patients' quality of life.
Depending on the type of cardiomyopathies, strategies vary:
- Avoiding triggers, such as intense physical exercise in arrhythmogenic cardiomyopathy, long QT syndrome, or catecholaminergic ventricular tachycardia.
- Controlling electrolyte imbalances in channelopathies or fever in Brugada syndrome.
- Personalizing exercise prescriptions based on the disease and patient characteristics.
- Adapting treatment to specific circumstances, such as pregnancy and childbirth.
- Considering additional factors like diet, alcohol and tobacco use, sexual and reproductive activity, vaccinations, driving, and work or educational environment.
Each congenital and/or hereditary cardiopathy may require specific pharmacological treatment to reduce the risk of arrhythmias and heart failure progression. This includes highly specialized drugs, such as:
- Channelopathies: Nadolol, mexiletine, flecainide.
- Hypertrophic cardiomyopathy: Myosin inhibitors such as mavacamten and aficamten.
- TTR amyloidosis: Tafamidis.
- Heart failure: Dapagliflozin and empagliflozin.
For patients at high risk of malignant arrhythmias, an automatic defibrillator implant may be recommended as a preventive measure. This device detects and corrects potentially fatal arrhythmias immediately, reducing the risk of sudden death.
When necessary, advanced surgical procedures and therapies are available, including:
- Left sympathectomy and arrhythmia ablation
- Myectomy and alcohol septal ablation
- Pacemaker implantation and cardiac resynchronization therapy
- Ventricular assist devices and heart transplants in advanced cases
Each treatment is personalized according to the type of congenital, ischemic, or hereditary heart diseases, ensuring the best option for every patient.
At barnaclínic+, we are an international reference center for the diagnosis and treatment of familial cardiomyopathies, hereditary congenital heart disease, and syndromes associated with sudden death. We are the trusted cardiology center for FC Barcelona in sports cardiology and arrhythmia prevention, with a highly specialized team.
Our experts are internationally recognized, including Dr. Elena Arbelo, head of the Inherited Heart Diseases and Sudden Death at Hospital Clínic de Barcelona, accredited by the Spanish Ministry of Health (CSUR) and the European Commission (ERN). She also coordinates the Network of Centers of Expertise in Hereditary Arrhythmias and Sudden Death for both adults and children and is the lead author of the European Guidelines on Cardiomyopathies.
We also have Dr. Josep Brugada, who discovered Brugada Syndrome, one of the most relevant channelopathies in sudden death research. Our multidisciplinary team offers a comprehensive approach supported by cutting-edge technology for the treatment of familial cardiopathies.
Every patient is unique, which is why we offer a fully personalized approach in the diagnosis and treatment of congenital cardiopathies and hereditary heart diseases. Our team designs tailored treatment plans, ensuring continuous follow-up and adaptive treatment to prevent sudden cardiac death and associated complications.
We are part of Hospital Clínic de Barcelona, a hospital with over 100 years of excellence in education, research, and top-level medical care. This combination of tradition and innovation allows us to provide outstanding medical care in a cutting-edge environment with renowned specialists in all areas of cardiovascular health.
Our Familial Cardiopathies and Sudden Death Unit has the latest technology for diagnosing and treating congenital cardiomyopathies, chronic ischemic heart disease, and other hereditary heart disorders.
We offer cutting-edge procedures such as arrhythmia ablation, implantable defibrillators and pacemakers, cardiac resynchronization therapy, and other innovative treatments. We are committed to providing advanced and personalized solutions for the best cardiovascular care for our patients.
The tragic loss of Dr. Carles Miñarro, FC Barcelona’s doctor, and former Catalan water polo player Óscar Rey, bronze medalist at the 2006 European Championship, has shocked the sports and medical communities. Both passed away suddenly, highlighting the importance of understanding and preventing sudden death in adults and athletes. What is Sudden Death? Sudden cardiac […] La entrada Sudden Death in adults and athletes: causes, prevention, and how to detect it in time aparece primero en Blog de Cardiología y Cirugía Vascular.
Heart diseases do not only develop due to acquired risk factors, such as smoking or hypertension. There are hereditary or inherited heart conditions that can affect multiple generations within the same family, often without showing obvious symptoms until a serious event occurs, such as an arrhythmia or even sudden cardiac death. These conditions are known […] La entrada Inherited heart conditions: Genetic risk for heart problems and hereditary arrhythmia aparece primero en Blog de Cardiología y Cirugía Vascular.
Sudden Death is the sudden and unexpected cardiac arrest that occurs in an apparently healthy person. It can therefore affect anyone and at any time. In Spain there are 30,000 cases a year and several million worldwide. Brugada Syndrome is a genetic heart disorder caused by a mutation that affects the electrical impulses in the heart. This abnormality causes ventricular arrhythmia which may, […] La entrada Who can experience Sudden Death and what is Brugada Syndrome? aparece primero en Blog de Cardiología y Cirugía Vascular.
