Improving diagnosis and risk stratification across the ejection fraction spectrum: the Maastricht Cardiomyopathy registry

Abstract

Aims: Heart failure (HF) represents a clinical syndrome resulting from different aetiologies and degrees of heart diseases. Among these, a key role is played by primary heart muscle disease (cardiomyopathies), which are the combination of multifactorial environmental insults in the presence or absence of a known genetic predisposition. The aim of the Maastricht Cardiomyopathy registry (mCMP-registry; NCT04976348) is to improve (early) diagnosis, risk stratification, and management of cardiomyopathy phenotypes beyond the limits of left ventricular ejection fraction (LVEF).

Methods and results: The mCMP-registry is an investigator-initiated prospective registry including patient characteristics, diagnostic measurements performed as part of routine clinical care, treatment information, sequential biobanking, quality of life and economic impact assessment, and regular follow-up. All subjects aged ≥16 years referred to the cardiology department of the Maastricht University Medical Center (MUMC+) for HF-like symptoms or cardiac screening for cardiomyopathies are eligible for inclusion, irrespective of phenotype or underlying causes. Informed consented subjects will be followed up for 15 years. Two central approaches will be used to answer the research questions related to the aims of this registry: (i) a data-driven approach to predict clinical outcome and response to therapy and to identify clusters of patients who share underlying pathophysiological processes; and (ii) a hypothesis-driven approach in which clinical parameters are tested for their (incremental) diagnostic, prognostic, or therapeutic value. The study allows other centres to easily join this initiative, which will further boost research within this field.

Conclusions: The broad inclusion criteria, systematic routine clinical care data-collection, extensive study-related data-collection, sequential biobanking, and multi-disciplinary approach gives the mCMP-registry a unique opportunity to improve diagnosis, risk stratification, and management of HF and (early) cardiomyopathy phenotypes beyond the LVEF limits.

Keywords: Cardiomyopathies; Diagnosis; Heart failure; Prognosis; Registry.

Conflict of interest statement

None related to the content of the manuscript or foundation of the registry.

© 2022 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.

Figures

Figure 1

The Maastricht Cardiomyopathy registry (mCMP‐registry) includes subjects referred to the cardiology clinic of the Maastricht University Medical Centre (MUMC+) for HF‐like symptoms or cardiac screening (e.g. because of known familial cardiomyopathy). The broad inclusion criteria, systematic routine clinical care data‐collection, extensive study‐related data‐collection, and multi‐disciplinary approach gives the mCMP‐registry a unique opportunity to improve diagnosis, risk stratification, and management of HF and (early) cardiomyopathy phenotypes beyond the left ventricular ejection fraction limits. HF, heart failure; PBMCs, peripheral blood mononuclear cells.

Figure 2

Standard care protocol for the diagnostic workup of individuals referred to the cardiology department of the Maastricht University Medical Center for heart failure‐like symptoms or cardiac screening. *The treating cardiologist may decide to perform additional diagnostic measurements beyond this protocolled diagnostic workup based on the medical indication at baseline or during follow‐up. Additional information (such as medication usage at follow‐up and cardiac interventions) is stored within the electronic online case‐record forms (the data dictionary is available at www.cardiomyopathyresearch.eu). 6MWT, 6 min walking test; CAG, invasive coronary angiography; CT‐a, computed tomography angiography; CMR, cardiac magnetic resonance imaging; ECG, electrocardiography; EMB, endomyocardial biopsy; FDG‐PET, fluorodeoxyglucose‐positron emission tomography; RHC, right heart catheterization; TTE, transthoracic echocardiography; VO2‐max, maximal oxygen consumption test; xECG, exercise electrocardiography.

Figure 3

Subjects included in the mCMP‐registry undergo clinical care as usual. Regular clinical visits will be at baseline, 6 and 12 months, and finally yearly unless the treating cardiologist decides otherwise. Upon inclusion in the mCMP‐registry, subjects are asked for additional consent for yearly surveying short questionnaires for a period of 15 years and sequential biobanking. AE, adverse events; EMR, electronic medical records; *EQ‐5D, EuroQol 5D questionnaire (obtained at baseline, and after 1, 3, 5, 10, and 15 years in informed consented subjects); HF, heart failure; iMCQ, iMTA Medical Consumption Questionnaire; iPCQ, iMTA Productivity Cost Questionnaire; m, months; mCMP‐registry, Maastricht Cardiomyopathy registry; T, time.