Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1). (15th October 2020)

• Record Type: Journal Article
• Authors: Abramovich-Yoffe, Hadar; Shalev, Aryeh; Barrett, Orit; Shalev, Hanna; Levitas, Aviva
• Is Part Of: International journal of cardiology. Volume 317(2020)
• Page Start: 96
• Page End: 102
• Publication Date: 2020-10-15
• Subjects: Congenital dyserythropoietic anemia -- Left ventricular hypertrabeculation -- Noncompaction; BMI Body mass index -- BSA Body surface area -- CDA1 Congenital dyserythropoietic anemia type 1 -- CMR Cardiac magnetic resonance -- EF Ejection fraction -- LIC Liver iron content -- LVEDV Left ventricular end-diastolic volume -- LVESV Left ventricular end-systolic volume -- LVHT/NC Left ventricular hypertrabeculation/noncompaction -- MIC Myocardial iron content -- NC/C ratio Ratio of noncompacted to compacted myocardium -- RVEDV Right ventricular end-diastolic volume -- RVESV Right ventricular end-systolic volume; Cardiology -- Periodicals; Electronic journals; 616.12
• DOI: 10.1016/j.ijcard.2020.05.092
• Languages: English
• ISSNs: 0167-5273

Abstract

Abstract: Background: Congenital dyserythropoietic anemia type 1 (CDA1) is a rare autosomal recessive disease characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. Left-ventricular noncompaction (LVNC) is a cardiomyopathy that is commonly attributed to intrauterine arrest of normal compaction during the endomyocardial morphogenesis. LV hypertrabeculation/noncompaction (LVHT/NC) morphology, however, might exist in various hemoglobinopathies. Our primary objective was to determine whether the pattern of LVHT/NC is more prevalent among patients with CDA1, in comparison to subjects without CDA1, and to find potential risk factors for LVHT/NC among these patients. Our secondary objective was to evaluate the clinical implication of LVHT/NC. Methods: We retrospectively assessed 32 CDA1 patients (median age 17.5, range 6–61) that underwent routine assessment of iron overload by cardiac magnetic resonance. Number and distribution of noncompacted LV segments were assessed in CDA1 patients and compared to 64 age- and gender-matched patients without CDA1. The ratio of noncompacted to compacted myocardium (NC/C ratio) in end-diastole was calculated for each of the three long-axis views. NC/C ratio > 2.3 was considered diagnostic for LVHT/NC. Results: In multivariate analysis, the presence of CDA1 was independently associated with NC/C ratio > 2.3, a feature of LVHT/NC (adjusted OR = 11.46, 95%CI = 2.6–50.68, p = .001). CDA1 was strongly associated with increased number of myocardial segments exhibiting LVHT/NC pattern. Cardiac volumes and ejection fraction were preserved without clinical adverse events in long term follow-up. Conclusions: CDA1 patients have a higher prevalence of LVHT/NC than normal individuals, independent of myocardial iron overload and without effect on ejection fraction or clinical outcome. Highlights: CDA1 is a rare autosomal recessive disease. CMR is routinely used to detect myocardial iron overload in CDA1 patients. LVNC morphology was detected by CMR in most of our CDA1 patients. The severity of LVNC was independent of myocardial iron levels.