22 October, 2025

Marfan syndrome: symptoms, diagnosis and specialized treatment at barnaclínic+

The Marfan Syndrome is a rare hereditary disease that affects the connective tissue — the “support structure” that keeps organs, blood vessels, and bones together. When this tissue does not function properly, it can cause alterations in different parts of the body, especially in the cardiovascular system. As explained by Dr. Elena Arbelo, cardiologist at barnaclínic+ and specialist in familial cardiomyopathies, “Marfan disease is an alteration of the connective tissue that mainly manifests at the level of the aorta, and what it can cause is a large dilation because the aorta, if it dilates too much and with this poor tissue quality, can rupture.” This dilation of the aorta — the large artery that carries blood from the heart — can be serious if not detected early. Therefore, early diagnosis and specialized follow-up are essential to prevent complications and maintain a good quality of life.

Marfan Syndrome: symptoms and most common manifestations

The symptoms of Marfan Syndrome vary depending on the person and the severity of the disease. Some people have a mild form of Marfan Syndrome, while in others, the signs are more evident.
Among the most common physical manifestations are:

• Tall stature and long limbs.

• Thin, elongated fingers (arachnodactyly).

• Scoliosis or deformities of the chest.

• Eye problems such as myopia or lens dislocation.

• Dilation or aneurysm of the aorta.

Cardiovascular involvement is the most significant aspect, which is why close monitoring of Marfan Syndrome heart is recommended, with regular echocardiograms and root aortic checks.

Types and degrees of Marfan Syndrome involvement

Although there are no clearly differentiated types of Marfan Syndrome, specialists refer to mild or severe forms depending on the degree of organ involvement.
Dr. Arbelo reminds us that “what we aim for is to prevent death, basically by closely monitoring the diameters of the aorta on a regular basis.” In mild Marfan syndrome cases, the aorta may show minimal dilation that only requires monitoring, whereas more severe cases may require preventive surgery to avoid complications.

Marfan Syndrome and the heart: monitoring and treatment

At barnaclínic+, patients with this Marfan disease receive personalized care from a multidisciplinary team with extensive experience.

“At barnaclínic+, we can offer early diagnosis and specialized treatment for all types of hereditary diseases. We are a reference center both nationally and across Europe, with specialists exclusively dedicated to this condition.”

Dr. Elena Arbelo

The goal of Marfan Syndrome treatment is to prevent rupture or dissection of the aorta, the main cause of serious complications.
Measures include:

• Medical treatment with beta-blockers or angiotensin II receptor antagonists, as well as new drugs such as allopurinol, recently designated as an orphan drug for this condition.

• Regular cardiac check-ups, with follow-up of the aortic root using echocardiography.

• Preventive surgery when the diameter of the aorta exceeds the risk thresholds.

• Moderate physical exercise, as recent studies from Hospital Clínic de Barcelona show that it can slow the progression of the aneurysm.

Living with Marfan Syndrome: early diagnosis and hope

Thanks to medical advances and the experience of reference centers like barnaclínic+, the prognosis for Marfan Syndrome has significantly improved in Europe. Early diagnosis and specialized monitoring allow people affected to lead active and healthy lives.

Dr. Arbelo concludes:

“At barnaclínic+, we can offer treatments for Marfan Syndrome tailored by specialists exclusively dedicated to this condition.”