Non-Compaction Cardiomyopathy
Conditions
Keywords
Echocardiography, Magnetic resonance imaging, Computed tomography, Prognosis, Genetics
Brief summary
Non-compaction cardiomyopathy (NCCM) is a heterogeneous, poorly understood disorder characterized by a prominent inner layer of loose myocardial tissue, and associated with heart failure, stroke, severe rhythm irregularities and death. For a growing population diagnosed with NCCM there is a need for better risk stratification to appropriately allocate (or safely withhold) these impactful preventive measures. The goal of this international consortium is to improve care of patients with non-compaction cardiomyopathy. We hypothesize that comprehensive analysis of clinical, genetic, structural and functional information will improve risk stratification. In addition, we hypothesize that detailed structural analysis will allow for differentiation of pathological and benign patterns of non-compaction. In a large cohort of adult patients with suspected NCCM we will perform in-depth phenotyping, including clinical information, pedigree data, genetics, echocardiography and MRI, and follow patients for up to 3 years. We will apply machine-learning based analytics to develop predictive models and compare their performance to currently used models and treatment criteria. Secondly, in a subset of patients we will perform high-resolution cardiac CT for detailed structural characterization of the myocardial wall. We will investigate associations between myocardial structure and regional contractile function, as assessed by echo and MRI. The aim of this proposal is to identify a structural signature associated with pathological non-compaction and improve developed risk prediction models. Discovery of pathological structural signatures through innovative imaging techniques, in relation to myocardial contractility, will advance our understanding of NCCM.
Interventions
DIAGNOSTIC_TESTEchocardiography
Standard echocardiography exam performed as part of clinical management.
DIAGNOSTIC_TESTMagnetic resonance imaging (MRI)
Standard comprehensive cardiac MRI exam of the heart performed as part of clinical management.
DIAGNOSTIC_TESTComputed tomography (CT)
ECG-triggered, contrast-enhanced CT scan of the heart performed for research purposes in eligible study participants.
Sponsors
Stanford University
The Cleveland Clinic
University of Pennsylvania
Erasmus Medical Center
Seoul National University Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* ≥18 years old * Hypertrabeculation of the left ventricle fulfilling the echo-based Jenni criteria of NCCM * Clinical cardiac MRI examination performed or planned
Exclusion criteria
(general cohort): * Complex congenital disease (including transposition great arteries, tetralogy of Fallot, tricuspid atresia, truncus arteriosis, single ventricle, hypoplastic left heart, pulmonary atresia, double-outlet RV), neuromuscular disorders or isolated RV non-compaction * Inability to provide informed consent * Contra-indications to MRI, which apply if the clinical cardiac MRI has not yet been performed at the time of study enrollment: permanent pacemakers/ICDs, MRI contrast medium allergy, significant arrhythmia with highly irregular RR intervals, severe dyspnea with inability to lay flat/breath hold, inability to communicate with the MRI technician or follow commands for any reason (psychosis, agitation, etc.), other site-specific contra-indications to clinical MRI of the heart.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Incidence of hard embolic adverse events | Up to 4 years after enrollment | Clinical neuro/systemic embolic event by autopsy, imaging or specialist evaluation |
| Incidence of hard arrhythmic adverse events | Up to 4 years after enrollment | Sudden death (aborted), appropriate ICD discharge or VT/VF on ECG or rhythm/device monitoring |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Incidence of hard heart failure related adverse events | Up to 4 years after enrollment | Heart failure death, cardiac transplantation or mechanical circulatory support |
| Incidence of composite of hard adverse events | Up to 4 years after enrollment | Hard embolic, arrhythmic and heart failure related adverse events (as described above) |
| Incidence of all embolic adverse events | Up to 4 years after enrollment | Hard embolic adverse events or transient neurologic event without objective infarction |
| Incidence of all arrhythmic adverse events | Up to 4 years after enrollment | Hard arrhythmic adverse events or syncope without recorded arrhythmia |
| Incidence of all heart failure related adverse events | Up to 4 years after enrollment | Hard heart failure related adverse events or resynchronization therapy, heart failure hospital admission |
| Incidence of composite of adverse events | Up to 4 years after enrollment | All embolic, arrhythmic or heart failure related adverse events (as described above) |
Countries
Netherlands, South Korea, United States
Contacts
PRINCIPAL_INVESTIGATORKoen Nieman, MD, PhD
Stanford University
Outcome results
None listed