Left Ventricular Noncompaction in Childhood: Echocardiographic Follow-Up and Prevalence in First-Degree Relatives

Thilde O Kock; Marie F Børresen; Anne-Sophie Sillesen; Ruth O B Vøgg; Jakob B Norsk; Maria M Pærregaard; Niels G Vejlstrup; Alex H Christensen; Kasper K Iversen; Henning Bundgaard; Anna Axelsson Raja

doi:10.1016/j.jacadv.2024.100829

Left Ventricular Noncompaction in Childhood: Echocardiographic Follow-Up and Prevalence in First-Degree Relatives

JACC Adv. 2024 Feb 10;3(3):100829. doi: 10.1016/j.jacadv.2024.100829. eCollection 2024 Mar.

Authors

Thilde O Kock^{1

2

3}, Marie F Børresen^{1

2

3}, Anne-Sophie Sillesen^{1

2}, Ruth O B Vøgg^{1

2}, Jakob B Norsk^{1

2}, Maria M Pærregaard^{1

2}, Niels G Vejlstrup^{2

3}, Alex H Christensen^{1

2

3}, Kasper K Iversen^{1

2}, Henning Bundgaard^{2

3}, Anna Axelsson Raja^{2

3}

Affiliations

¹ Department of Cardiology, Copenhagen University Hospital Herlev-Gentofte, Copenhagen, Denmark.
² Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
³ Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Abstract

Background: Left ventricular noncompaction (LVNC) is characterized by excessive trabeculations of the left ventricular (LV) wall.

Objectives: The authors aimed to examine changes in LV function and morphology in 2 to 4-year-old children with and without LVNC at birth and to describe the prevalence of LVNC in first-degree relatives.

Methods: Echocardiograms in children with and without LVNC (matched 1:4) were performed at 2 to 4 years and in first-degree relatives. LVNC was blindly assessed and defined as a ratio of non-compact to compact myocardium of ≥2 in ≥1 LV segment. Trabeculations were expressed as a percentage of the number of segments with LVNC out of the total number of segments.

Results: In total, 14 (median age 3 years, 71% male) of 16 children with LVNC at birth and 56 children without (median age 4 years, 71% male), 37 first-degree relatives of children with LVNC (median age 31 years, 46% male) and 146 first-degree relatives of children without (median age 33 years, 50% male) were included. In children with LVNC, trabeculation (8% vs 13%, P = 0.81) and LV ejection fraction (50% vs 49%, P = 0.91) were unchanged from birth to follow-up but LV ejection fraction was lower compared to children without LVNC (49% vs 60%, P < 0.001). In relatives of children with LVNC, 11 of 37 (30%) fulfilled LVNC criteria compared to no relatives to children without LVNC (P < 0.001).

Conclusions: At 2 to 4 years, children with LVNC diagnosed at birth had reduced systolic function compared to children without but did not have progression of LV dysfunction or extent of trabeculations. In first-degree relatives to children with LVNC, 30% fulfilled criteria.

Keywords: cardiomyopathy; child; echocardiography; myocardium; trabeculation.