Prevalence of Left Ventricular Non-Compaction Cardiomyopathy Pattern Among Patients with Congenital Dyserythropoietic Anemia (CDA) Type I Undergoing Cardiac Magnetic Resonance Imaging

ARYEH SHALEV Cardiology, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, N/A, Israel Hadar Abramovich-Yoffe Joyce and Irving Goldman Medical School, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel Orit Barrett Clinical Research Center, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel Hannah Shalev Pediatrics, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel Aviva Levitas Pediatric Cardiology Unit, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel

Background: Congenital dyserythropoietic anemia type I (CDA1) is a rare autosomal recessive disease characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. Left-ventricular noncompaction (LVNC) is a cardiomyopathy with potentially serious outcomes that is commonly attributed to intrauterine arrest of normal compaction during the endomyocardial morphogenesis. LVNC pattern, however, might exist in various hemoglobinopathies. Objectives: The primary objective of the study was to determine whether the pattern of LVNC is more prevalent among patients with CDA1 compared with subjects without CDA1. The secondary objective was to find potential risk factors for LVNC among patients with CDA1.

Methods: We conducted a retrospective cohort study of all CDA1 patients that underwent cardiac magnetic resonance imaging (CMR) during a 6-year period (2010-2016) at Soroka University Medical Center as part of routine assessment of iron overload. The study population consisted of 32 CDA1 patients (median age 17.5, range 6-61 years), all carrying the same CDAN1 founder mutation, and age- (±5 years range) and gender-matched subjects without CDA1 that served as a comparison group, on a 1:2 basis (64 subjects).

Results: In multivariate analysis, the presence of CDA1 was an independent risk factor for NC/C ratio>2.3, a feature of LVNC pattern (adjusted OR=11.46, 95%CI=2.6-50.68, p = 0.001). CDA1 was strongly associated with increased number of myocardial segments exhibiting LVNC pattern. There was no evidence for myocardial iron overload among CDA1 patients.

Conclusions: Patients with CDA1 have a higher prevalence of LVNC pattern than normal individuals. Unfolding the natural course of LVNC pattern and its clinical implications among CDA1 patients may eventually improve patients’ care.

ARYEH SHALEV

Soroka University Medical Center