Unmet health-related needs of heritable arrhythmogenic cardiomyopathy carriers in Belgium: The UR-HEART survey study.

BACKGROUND

The revised European Pharmaceutical Legislation emphasizes research and development for unmet medical needs. While gene therapies for arrhythmogenic cardiomyopathies (ACM) are advancing, insight into patients' lived experiences remains limited.

OBJECTIVE

This study identifies the unmet health-related needs of ACM carriers to guide policy, research, care, and treatment strategies.

METHODS

A cross-sectional survey was conducted among ACM carriers in Belgium using convenience sampling. The Needs Examination, Evaluation, and Dissemination (NEED) framework guided the development of a multilingual (Dutch, French, English) questionnaire assessing health-, health care- and social needs among symptomatic (S) and asymptomatic (A) carriers. Data were collected anonymously via Lime Survey or post. Descriptive and Wilcoxon signed-rank tests were conducted.

RESULTS

Of 112 participants (63 women, 49 men), most were over 40 years old (80%) and symptomatic (67%). Symptomatic carriers reported pain/discomfort (58%), daily activities limitations (51%), and anxiety/depression (49%), whereas asymptomatic carriers experienced anxiety/depression (30%). Despite high treatment satisfaction, half of participants found treatment burdensome, due to side effects (46%) and ongoing need to manage the condition (39%). Dissatisfaction centered on restrictions on competitive sports. Participants faced challenges with hobbies (S: 59%, A: 22%), reduced work intensity (S: 49%, A:19%), and financial consequences (S: 51%, A: 14%). Diagnostic delay of over 1 year persist (26%). Nearly half (45%) fulfilled their family planning before diagnosis, limiting informed reproductive choices. Moreover, 60% did not always receive useful information.

CONCLUSION

Unmet needs among ACM carriers remain, particularly regarding delayed diagnosis, treatment burden, psychological stress, reproductive decisions, and access to information. Future care and research should address these gaps to improve ACM carriers' quality of life.