case_images: PMC11753982_01
case_images: Echocardiographic examination (four-chamber and parasternal short-axis view) shows multiple trabeculations in the apex and lateral wall of the left ventricle, a two-layer myocardial structure with a thin compacted and thick non-compacted (NC) layer, systolic NC/C ratio > 2 (red arrows).
case_images: jocmr-17-060-g001.jpg
case_images: PMC11753982_01_jocmr-17-060-g001.jpg
case_images: F1
case_images: Echocardiographic examination showed multiple trabeculations in apex and lateral wall of the left ventricle with deep endomyocardial recesses, left ventricular ejection fraction (LVEF) 53%, global longitudinal strain (GLS) -18.3%, two-layer myocardial structure with a thin compacted and a thick non-compacted (NC) layer, systolic NC/C ratio > 2 (parasternal short-axis view), color Doppler evidence of perfused intertrabecular recesses, therefore the diagnosis of LVNC is performed (Figs. 1, 2).
case_images: Speckle tracking analysis, global longitudinal strain (-18.3%).
case_images: jocmr-17-060-g002.jpg
case_images: PMC11753982_01_jocmr-17-060-g002.jpg
case_images: F2
case_images: Echocardiographic examination showed multiple trabeculations in apex and lateral wall of the left ventricle with deep endomyocardial recesses, left ventricular ejection fraction (LVEF) 53%, global longitudinal strain (GLS) -18.3%, two-layer myocardial structure with a thin compacted and a thick non-compacted (NC) layer, systolic NC/C ratio > 2 (parasternal short-axis view), color Doppler evidence of perfused intertrabecular recesses, therefore the diagnosis of LVNC is performed (Figs. 1, 2).
case_images: The cMRI showed distinct trabeculations localized to the lateral wall, and part of the posterior wall, as well as the apex (red arrows). cMRI: cardiac magnetic resonance imaging.
case_images: jocmr-17-060-g003.jpg
case_images: PMC11753982_01_jocmr-17-060-g003.jpg
case_images: F3
case_images: The echocardiographic diagnosis was confirmed by cardiac magnetic resonance imaging (cMRI), which revealed dense hypertrabeculation in the apex and lateral wall (Fig. 3).
case_images: Raw data visualization of the variant c.9145C>T, p.Arg3049Trp in the ANK2 gene (NM_001148) on IGV (Integrative Genomics Viewer). ANK2: ankyrin 2; IGV: Integrative Genomics Viewer.
case_images: jocmr-17-060-g004.jpg
case_images: PMC11753982_01_jocmr-17-060-g004.jpg
case_images: F4
case_images: The heterozygous variant NM_001148:c.C9145T (p.R3049W) in the ANK2 gene, leading to arginine to tryptophan substitution at position 3049 of the beta-ankyrin protein, was identified (Fig. 4). This missense variant was present in publicly available mutation databases, including dbSNP (rs1201870166), ClinVar (classified as variant of uncertain significance (VUS)) and Human Gene Mutation Database (HGMD) (associated to LVNC), with a minor allele frequency of 0.14/1613852 in GnomAD v4.0.0.