Cardiology

Martin Cowie at AstraZeneca elaborates on the urgent need for faster diagnoses in the field of heart failure

Despite recent advances in healthcare, cardiovascular disease remains the leading cause of death worldwide. Millions of patients with cardiovascular disease suffer from heart failure, a complex syndrome that occurs when the heart cannot pump enough blood to the organs.1

Heart failure is the leading cause of hospitalisations in individuals aged 65 and over and carries an annual burden of $346bn USD, which is projected to increase by 127% by 2030.2,3

Diagnosing heart failure can be challenging, with patients often experiencing significant delays. It is a heterogenous condition with a wide range of disease drivers, making a ‘one-size-fits-all ’ treatment strategy suboptimal. Revealing the underlying biology of the disease is therefore crucial to help define the root cause of the condition, develop more accurate diagnosis and facilitate rapid treatment intervention to improve patient outcomes.

Experts know that heart failure has several stages and types and can be a result of a collection of different diseases. Further understanding these mechanisms can be critical in identifying what is driving the disease, and what to target in terms of treatment for the individual patient.4,5

Considerable research has already helped advance the field. For example, previous findings have demonstrated that a possible underlying cause of the type of heart failure with preserved ejection fraction (HFpEF) is a lesser-known condition called transthyretin-mediated amyloid cardiomyopathy (ATTR-CM).6 This is a potentially fatal form of amyloidosis caused by one of the circulating proteins misfolding and the subunits clumping together to form amyloid fibrils that deposit in the heart and other tissues. For a minority of patients this can be a genetic condition that therefore runs in the family, but for many this is a problem that develops as they get older.7

An ATTR-CM diagnosis is often delayed, sometimes after repeated visits to multiple healthcare professionals.8 In fact, it has recently been shown that up to 40% of patients have a note of a cardiac condition (such as heart failure) in their medical records, up to five years before their ATTR amyloidosis diagnosis.9 It has become increasingly clear that healthcare systems need to do a better job – people with heart failure symptoms such as breathlessness or fluid retention need a rapid and accurate diagnosis that includes why they have developed the syndrome. By doing a detailed diagnostic assessment we will not miss ATTR-CM, and we can then create a specific treatment plan to improve the out look for each patient.

The economic burden of a delayed heart failure diagnosis cannot be understated. As people live longer – often with multiple comorbidities – heart failure is becoming more common with clear cardiometabolic and cardiorenal interconnections. The burden continues to increase due to under-recognition, misdiagnosis and multiple visits to healthcare providers; all of which generates significant costs to society.10 This underscores the urgency for timely heart failure diagnosis and rapid treatment inter vention to enable early disease management, improve patient outcomes and reduce the burden on people and health systems worldwide.

References

1. Di Cesare M, et al (2024), ‘The Heart of the World’ Glob Heart, 19(1):11
2. Virani SS, et al (2020), ‘Heart disease and stroke statistics-2020 update: a report from the American Heart Association’ Circulation, 141(9): pp139–596
3. Lippi G, et al (2020), ‘Global epidemiology and future trends of heart failure’ AME Med J, 5:1-6
4. Visit: heart.org/en/health-topics/heartfailure/what-is-heart-failure/types-of-heartfailure
5. Visit: heart.org/en/health-topics/heart-failure/what-is-heart-failure/classes-of-heart-failure
6. Ando Y, et al (2013), ‘Guideline of transthyretin-related hereditary amyloidosis for clinicians’ Orphanet, J Rare Dis. 8:31
7. Suhr OB, et al (2017), ‘One mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition’ J Intern Med, 281:337-347
8. Papingiotis G, et al (2021), ‘Cardiac amyloidosis: epidemiology, diagnosis and therapy’ E-Journal of Cardiology Practice, 19
9.  Alexander K, et al (2024), ‘Cardiac Manifestations as Precursors to ATTR Amyloidosis Diagnosis: Results from the Multi-country OverTTuRe Study,’ Abstract presented at: Annual Meeting of the European Society of Cardiology; 30 August – 2 October 2024; London, UK
10. Lesyuk W, et al (2018), ‘Cost-of-illness studies in heart failure: a systematic review 2004–2016’ BMC Cardiovasc Disord, 18:74