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Left Ventricular Noncompaction in Childhood: Echocardiographic Follow-Up and Prevalence in First-Degree Relatives
Thilde O Kock1,2,3, Marie F Børresen1,2,3, Anne-Sophie Sillesen1,2
1Department of Cardiology, Copenhagen University Hospital Herlev-Gentofte, Copenhagen, Denmark.
Insights
Left ventricular noncompaction (LVNC) in children shows persistent systolic dysfunction compared to peers. Notably, 30% of first-degree relatives of affected children also met LVNC criteria, indicating a potential genetic link.
Area of Science:
- Cardiology
- Pediatric Cardiology
- Genetics
Background:
- Left ventricular noncompaction (LVNC) is a rare congenital heart condition characterized by excessive trabeculations and deep recesses in the left ventricular myocardium.
- LVNC can lead to impaired systolic function, arrhythmias, and heart failure.
Purpose of the Study:
- To evaluate changes in left ventricular (LV) function and morphology in children diagnosed with LVNC at birth, from infancy to 2-4 years of age.
- To determine the prevalence of LVNC in first-degree relatives of children with LVNC.
Main Methods:
- Retrospective analysis of echocardiograms in children with and without LVNC at birth, with follow-up at 2-4 years.
- LVNC diagnosis based on a non-compact to compact myocardium ratio ≥2 in at least one LV segment.
- Assessment of LV function (ejection fraction) and trabeculation extent in children and their first-degree relatives.
Main Results:
- Children with LVNC at birth showed persistent lower LV ejection fraction compared to controls at 2-4 years (49% vs 60%, P < 0.001).
- No significant progression in trabeculation or LV dysfunction was observed in children with LVNC from birth to follow-up.
- A significant proportion (30%) of first-degree relatives of children with LVNC met the diagnostic criteria for LVNC, compared to none in the control group (P < 0.001).
Conclusions:
- Children with LVNC diagnosed at birth exhibit sustained reduced systolic function but not progressive dysfunction or trabeculation by 2-4 years.
- The high prevalence of LVNC in first-degree relatives suggests a significant genetic component in the etiology of this condition.
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.
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