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The diagnosis of uncommon heart diseases is challenging
and requires specialist knowledge
Home > Rare Cardiovascular Diseases
While each individual disease is rare, collectively rare diseases are common, affecting approximately 5% of the world’s population. There are more than 7,000 known rare diseases, some of which affect the heart and circulatory system.
Eighty percent of rare diseases are genetic in origin and often present at an early age. Patients with rare diseases also suffer from delays in diagnosis due to a lack of medical knowledge and poor awareness of these conditions, which contributes to a considerable social and financial burden for affected individuals as well as their families and caregivers.
Cardiovascular disorders are anything but rare, accounting for almost 50% of all noncommunicable diseases worldwide and caused by common conditions such as hypertension. With constrained resources and limited access to specialist cardiac investigations, the diagnosis of rare cardiovascular disease can be challenging. In many cases, suspicion is triggered by an unusual or extraordinary event—for example, a sudden death in a young relative. On other occasions, the diagnosis is retrospective following delayed recognition of atypical features.
While acknowledging the diagnosis of rare diseases requires some specialized knowledge and access to investigations such as genetic testing, appropriate clinical assessment combined with routinely available tests can be used as a first pass filter to detect some of the most important rare cardiovascular conditions.
One of these is called transthyretin amyloid cardiomyopathy or ATTR-CM, which is a form of cardiac amyloidosis. ATTR-CM is a rare, underdiagnosed and fatal condition, resulting in progressive heart failure.