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Shining a light on rare cardiovascular diseases

03 May 2023

Cardiovascular disease (CVD) is the leading cause of death worldwide, affecting millions of people every year. While many people are familiar with common CVDs such as coronary artery disease, heart failure and arrhythmias, there are many cardiovascular diseases that are less common and therefore less well-known.

Rare cardiovascular diseases are defined as diseases that affect fewer than 1 in 2,000 people. These conditions can be difficult to diagnose and treat, primarily due to lack of awareness and understanding among healthcare professionals and the public, and missed opportunities for screening, all of which can delay appropriate treatment and lead to severe complications.

One example of a rare cardiovascular disease is pulmonary arterial hypertension (PAH), which is characterized by high blood pressure in the arteries that supply blood to the lungs. If left untreated, it can lead to heart failure. PAH is often misdiagnosed as asthma or other respiratory conditions, which can delay appropriate treatment.

Homozygous Familial Hypercholesterolemia (HoFH) is a genetic disorder that results in the accumulation of high levels of low-density lipoprotein (LDL) cholesterol in the bloodstream. HoFH is a severe form of familial hypercholesterolemia, and it is present from birth. It can cause early-onset cardiovascular disease, including heart attacks and stroke.

Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a rare disease characterized by the accumulation of a protein called amyloid in the heart muscle. This accumulation can lead to thickening and stiffening of the heart muscles, causing heart failure. ATTR-CM can be challenging to diagnose, but early diagnosis is essential for successful treatment.

Hereditary Hypertrophic Cardiomyopathy is an infrequent genetic condition that causes thickening of the heart muscles, leading to difficulty in the heart’s ability to pump blood effectively. It can cause sudden cardiac death and is the leading cause of heart-related deaths in young people.

Rare cardiovascular diseases can have a significant impact on an individual’s quality of life, and while individually uncommon, these diseases collectively pose a significant burden on health systems, presenting common challenges that would benefit from coordinated and unified action.

To address these common challenges, the World Heart Federation will convene a Rare Cardiovascular Diseases Forum in May 2023, ahead of the World Heart Summit. The event will bring together researchers, policymakers, patient advocates and other leaders from the CVD community to identify headline priorities for action and develop a work plan to address challenges to the diagnosis, treatment and care of those living with rare cardiovascular diseases.

Improved awareness and understanding of these diseases, along with coordinated and unified action, can help to improve outcomes and quality of life, and prevent severe complications. The Rare Cardiovascular Diseases Forum will provide an opportunity to address these common challenges and develop a plan of action for the future.

WHF would like to thank the following partners for helping to make the Rare Cardiovascular Diseases Forum a reality: Bristol Myers Squibb, MSD, Alnylam, Astra Zeneca, Pfizer, Cytokinetics and Ultragenyx.