Early DETECTION of inherited cardiomyopathies in the Emergency Department (Early-DETECT-ED1)
Title
Early-DETECT-ED1 study
Early detection of inherited cardiomyopathy in young patients in the emergency department – a pilot study
Aim
The aim of this study is to estimate the proportion of patients aged 18–50 years in the emergency department (ED) who have or are at high risk of develop a inherited cardiomyopathy. If this proportion is higher than in the general population, the ED may represent a relevant setting for future screening initiatives.
Design
Prospective observational study in which ED patients with cardiac symptoms are included and tested for cardiomyopathy. The prevalence of unknown carriers of (likely) pathogenic variants of inherited cardiomyopathies is compared to a control group from exciting literature.
Methods
This prospective observational study includes ED patients aged 18–50 years who present to the ED symptoms which could be potential early waring symptoms of cardiac disease and are assessed as clinically stable and ready for discharge directly from the ED.
The prevalence of (likely) pathogenic genetic variants associated with inherited cardiomyopathies in analyzed in routine blood samples. The prevalence in these samples will be compared with prevalence estimates from the general population.
Study Population
Eligible participants must meet the following criteria:
- Age between 18 and 50 years
- Presenting complaint is one or more of the following symptoms:
- Loss of consciousness / syncope
- Chest pain
- Dyspnea
- Palpitations
- General malaise
- Sent home directly from the ED after evaluation (i.e. not refered to another department)
Exclusion criteria
- Known diagnosis of cardiomyopathy
- Inability to participate in a conversation (e.g. reduced consciousness, cognitive impairment, or severe communication barriers)
Setting
The study is conducted in the emergency departments at Aarhus University Hospital and Gødstrup Regional Hospital.
Perspectives
Early identification of cardiomyopathy may enable timely preventive measures, including cardioprotective medication or ICD implantation, with the potential to reduce morbidity, sick leave, and sudden cardiac death. This pilot study will provide essential initial knowledge on whether such early identification can be achieved through targeted, symptom-based genetic screening for inherited cardiomyopathies in the ED, and whether this represents a relevant area for future research. In addition, the study supports innovative approaches to improve diagnostics within emergency care.
Collaborating partners
Dr. Karin Y van Spaendonck-Zwarts and Jan D.H. Jongbloed, University Medical Centre Groningen
Dr. Morten Kvistholm Jensen, The Department of Cardiological Medicine, AUH
Gitte Boier Tygesen, The Emergency Department, Gødstrup regional hospital
