A significant proportion of the clinical red flags emphasized in the 2023 European Society of Cardiology Guidelines for the management of cardiomyopathies can be identified at lower levels of care and in primary care settings, thereby accelerating the diagnostic process and shortening the time to treatment.
Hypertrophic cardiomyopathy is the most common structural myocardial disease with an estimated prevalence of 1:500 in the adult population.
Approximately 90% of hypertrophic cardiomyopathy patients remain undiagnosed, often due to the absence of symptoms.
Mortality from hypertrophic cardiomyopathy has shown a declining trend in recent years due to improved device and pharmacotherapies.
The 2023 ESC Guidelines recommend a multiparametric, multimodal diagnostic evaluation pathway for hypertrophic cardiomyopathy.
A significant proportion of clinical red flags for hypertrophic cardiomyopathy can be identified at primary care and general cardiology outpatient levels.
The paper promotes a 'cardiomyopathy mindset' as an approach to raise awareness of clinical red flags for hypertrophic cardiomyopathy among clinicians.
This research reviews the current state of hypertrophic cardiomyopathy (HCM) diagnosis and highlights why so many cases go undetected. HCM is the most common structural heart muscle disease, affecting approximately 1 in 500 adults, yet only about 1 in 10 patients with the condition are ever diagnosed. The remaining 90% are often missed because they have no obvious symptoms — despite the fact that HCM is a leading cause of sudden cardiac death. The paper draws on the 2023 European Society of Cardiology guidelines to outline a structured diagnostic approach and emphasize specific warning signs ('red flags') that clinicians should watch for. This research suggests that a large portion of these diagnostic red flags can actually be spotted by general practitioners and non-specialist cardiologists, not just by specialists at advanced centers. The recommended diagnostic process involves a combination of ECG testing, specific blood tests, looking for symptoms outside the heart (extracardiac features), and taking a detailed family history that accounts for how the disease may appear differently at different ages. When suspicion is high, advanced imaging techniques should be added to standard imaging. Advances in both device therapies (such as implantable defibrillators) and medications have contributed to a declining death rate from HCM in recent years. This research suggests that building a 'cardiomyopathy mindset' among clinicians — including those working in primary care — could substantially shorten the time between first contact with a patient and a confirmed diagnosis and treatment. By recognizing warning signs earlier in the healthcare system, patients could receive life-saving therapies sooner. The review provides a practical framework for applying the 2023 ESC guidelines in everyday clinical settings, with the aim of closing the large gap between how many people have HCM and how many are actually identified and treated.
Forrai Z, Schäffer P, Gergely T, Boldizsár E, Andréka P, Piróth Z, et al.. (2026). [Diagnostic awareness and red flags in hypertrophic cardiomyopathy in daily clinical practice].. Orvosi hetilap. https://doi.org/10.1556/650.2026.33616