Hypertrophic cardiomyopathy (HCM) is the most common genetically determined cardiomyopathy, with an estimated prevalence of 0,2% in the general population, corresponding to approximately one in 500 people. The associated clinical picture encompasses a broad spectrum of presentations: from completely asymptomatic individuals, in whom the disease is detected occasionally, to patients with overt symptoms limiting daily activities (dyspnea and fatigue on exertion, angina, palpitations, syncope/presyncope), to the dramatic event of cardiac arrest and heart failure. This document represents the result of extensive reflection and discussion among various healthcare professionals involved in the management of this disease, which, while not rare, presents significant challenges in terms of diagnosis and treatment, which can compromise patients' quality of life and access to effective therapies.

Intended for a broad audience, this document is primarily aimed at medical specialists and non-specialists, such as cardiologists, general practitioners, geneticists, and radiologists, as well as surgical specialists and healthcare professionals who manage the follow-up of HCM patients. Offering a thoughtful and timely discussion of patient management and treatment pathways, this document is also intended for regional and national healthcare policymakers, scientific societies, patient associations, and the pharmaceutical industry.

This diverse audience highlights the importance of a multidisciplinary and collaborative approach, essential to effectively addressing the complexities of HCM. This document was developed to address several unmet needs in the management of HCM, at the diagnostic, therapeutic, and prognostic levels. These gaps can negatively impact patient health, making not only diagnosis difficult, but also monitoring and appropriate treatment.

The main objective of this paper is to provide concrete indications for improving the management of patients with HCM, developing a care pathway that integrates all levels of the healthcare system.
The challenges and limitations of the current care model will be addressed, with the aim of developing, based on the specific needs of patients and their physicians, practical and strategic guidance capable of influencing healthcare policies and promoting a patient-centered care model. The hope is that, through adequate training and collaborative efforts, the living conditions of HCM patients and their families can be significantly improved, providing concrete and substantial support in managing this complex disease.