Dr. Elena Arbelo: “Early detection and family screening are key to treating cardiomyopathies in young people.”

It’s not the first time we’ve collaborated with Dr. Elena Arbelo. About a year ago, we visited her at Hospital Clínic de Barcelona to film her expert commentary for a cardiomyopathy program.

This time, we met at her private office in Barcelona, less than five minutes away from the hospital. Dr. Arbelo is a cardiologist specializing in genetic cardiopathies, arrhythmias, and sudden death prevention. She believes that medicine goes beyond diagnosis and treatment — patients need to feel that their specialist is with them throughout the entire process.

But today, that’s not what we’re going to talk about. We want to learn more about the management of cardiomyopathies and the most recent updates.

If you don’t know her yet, keep reading. And if you’re a cardiologist in countries such as Ecuador, Colombia, or Argentina, you’ll have access to exclusive content. Let’s begin!

Dr. Arbelo has been leading the development of the new European guidelines for the management of cardiomyopathies. These guidelines were recently published by the European Society of Cardiology (ESC) and are the first ones to encompass all cardiomyopathy subtypes.

They are an update of the first version published in 2023, also led by Dr. Arbelo. At an international level, there is no other document that brings together all types in such a comprehensive way.

That’s why we were so interested in learning about the main updates this new document introduces compared to the previous one.

First of all, Dr. Arbelo recommends a phenotypic approach. But what does that involve?

Instead of treating all patients with the same diagnostic label uniformly, the phenotypic approach seeks to identify subgroups of patients who share certain clinical or biological characteristics. This makes it possible to:

• Personalize treatment, tailoring therapy to each patient’s specific characteristics.
• Predict disease progression, since some phenotypes may have a more aggressive course or respond better to certain drugs.
• Design more precise clinical studies, selecting participants based on their phenotype rather than a broad diagnostic category.

“In the case of cardiomyopathies, we must classify them by their form and function. But most importantly, we need to take a multiparametric approach,” explains Dr. Arbelo.

That means there are many other factors to consider — including family history, clinical findings, and additional tests — in order to move from the phenotype to an etiological diagnosis. In many cases, this diagnosis will be based on genetic information.

Ultimately, an etiological diagnosis aims to identify the exact cause of a disease.

Understanding the etiology (the cause) allows specialists to:

• Select the most appropriate treatment (for example, a specific antibiotic).
• Prevent relapses or reinfections.
• Better understand the disease’s evolution and prognosis.

We continued talking about this open-minded way of thinking, but focusing specifically on hypertrophic cardiomyopathy.

Dr. Arbelo highlights three ideas regarding the treatment of hypertrophic cardiomyopathy based on an etiological diagnosis.

First, there are the new drugs available for left ventricular outflow tract obstruction, which are cardiac myosin inhibitors.

“In this case, the guidelines state that they can be given as second-line treatment once treatment with beta-blockers or calcium channel blockers has failed or patients remain symptomatic despite treatment,” she explains.

She also highlights septal reduction therapies, which, on the one hand, should be performed in centers of excellence with good results and few complications.

These therapies seek to reduce the thickness of the septum to relieve the obstruction and improve the patient's symptoms. They do not cure the disease, but they improve quality of life and cardiac function.

If performed in these centers of excellence, they can be considered without having to wait for functional classes as advanced as 3, 4. They can be considered in class 2 in the presence of additional clinical factors.

Finally, Dr. Arbelo highlights the risk stratification of sudden death.

“The guidelines, now with much more external validation in a variety of clinical contexts, continue to recommend the HCM Risk Score,” Dr. Arbelo explains forcefully.

This risk score is a revision or recalibration of the original model known as HCM Risk-SCORE. It was developed to improve the accuracy of the HCM Risk-SCORE, especially in populations where the original model did not predict risk as well (for example, patients with a positive family history or atypical phenotypes).

“Furthermore, as a novelty, we now have a validated scale for stratifying risk in children as well,” she concludes, with a satisfied smile. 

Hypertrophic cardiomyopathy, like many other cardiomyopathies, can have a genetic component. This means that other family members are at risk of developing it.

Genetic testing can be positive in 50% to 60% of patients tested.

What does this mean? Dr. Arbelo explains:

“When we detect a case, we always have to study it very carefully to assess whether it is not a phenocopy or an acquired disease. For example, that it is not hypertension, valvular abnormality, or another disease. Afterward, it is very important to study the families because other cases can be detected, in addition to better understanding that person's disease. Therefore, when we have a cardiomyopathy, especially in young people, the recommendation is to perform a multiparametric study by an expert, multidisciplinary team that comprehensively analyzes the person and their family.”

This includes:

• Family history.

• Presence of symptoms and signs (including non-cardiac ones).

• Multimodal imaging, genetic testing, assessment of arrhythmias, and possibly other tests that allow us to identify whether the disease is genetic and prevent adverse events in other family members.

Continuing medical education has no borders. That's precisely why at CMC, we are committed to offering medical excellence regardless of where you're from.

That's why we're very proud to present the ACC Clinical Collection on Cardiomyopathies program for the following countries:

• Uruguay
• Paraguay
• Costa Rica
• Dominican Republic
• Ecuador
• Panama
• Guatemala
• El Salvador
• Bolivia
• Honduras
• Nicaragua

If you're a cardiologist and want to stay up-to-date with the latest developments, like those explained by Dr. Arbelo, this program is for you.

We have a panel of renowned experts:

• Dr. Elena Arbelo from the Hospital Clínic of Barcelona, ​​Spain.
• Dr. Alicia Torterolo, Past President of the Uruguayan Society of Cardiology (SUC).

Get exclusive access to the program and enjoy the latest developments in cardiomyopathies treatment and research.