Left Ventricular Noncompaction Is More Prevalent in Ventricular Septal Defect Than Other Congenital Heart Defects: A Morphological Study

Abstract

Left ventricular noncompaction (LVNC) is a condition characterized by prominent ventricular trabeculae and deep intertrabecular recesses and has been described as a possible substrate for arrhythmias, thromboembolism, and heart failure. Herein, we explored the prevalence of LVNC morphology among hearts with congenital heart defects (CHD). We examined 259 postnatal hearts with one of the following CHD: isolated ventricular septal defect (VSD); isolated atrial septal defect (ASD); atrioventricular septal defect (AVSD); transposition of the great arteries (TGA); isomerism of the atrial appendages (ISOM); Ebstein’s malformation (EB); Tetralogy of Fallot (TF). Eleven hearts from children who died of non-cardiovascular causes were used as controls. The thickness of the compacted and non-compacted left ventricular myocardial wall was determined and the specimens classified as presenting or not LVNC morphology according to three criteria, as proposed by Chin, Jenni, and Petersen. Normal hearts did not present LVNC, but the CHD group presented different percentages of LVNC in at least one diagnostic criterium. The prevalence of LVNC was respectively, according to Chin’s, Jenni´s and Petersen´s methods: for VSD—54.2%, 35.4%, and 12.5%; ASD—8.3%, 8.3%, and 8.3%; AVSD—2.9%, 2.9%, and 0.0%; TGA—22.6%, 17%, and 5.7%; ISOM—7.1%, 7.1%, and 7.1%; EB—28.6%, 9.5%, and 0.0%; TF—5.9%. 2.9%, and 2.9%. VSD hearts showed a significantly greater risk of presenting LVNC when compared to controls (Chin and Jenni criteria). No other CHD presented similar risk. Current results show some agreement with previous studies, such as LVNC morphology being more prevalent in VSDs. Nonetheless, this is a morphological study and cannot be correlated with symptoms or severity of the CHD.

Deletion of the Wilms’ Tumor Suppressor Gene in the Cardiac Troponin-T Lineage Reveals Novel Functions of WT1 in Heart Development

“…The fibrotic areas observed in adults would be the consequence of repairing processes in these damaged areas. In humans, left ventricular non-compaction appears more associated to ventricular septal defects than to any other congenital heart disease (Costa-Marques et al, 2020). On the other hand, congenital ventricular aneurisms and diverticula are rare cardiac malformations in humans (Ohlow et al, 2015).…”

A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report

“…However, we believe that the chance would be quite low, given the absence of dysmorphic features (as examined by a clinical geneticist, DW) and extracardiac abnormalities, which are frequent associated findings in such case. Moreover, multiple or Swiss cheese muscular VSD is not a common finding in the vast majority of VSD ( 17 ), while this specific type of VSD tends to be found associated with LVNC ( 1 , 2 , 18 ).…”

“…In most (75–80%) cases, the defects represent a perimembranous type, whereas the remainder are muscular VSDs, located at the apical to mid interventricular trabecular septum ( 17 ). The prevalence of CHD in LVNC was 20–50% depending on recruitment criteria, with VSD being the most common associated CHD (27–35%), followed by Ebstein's anomaly, atrial septal defect, and transposition of great arteries ( 1 , 2 , 6 , 18 , 22 ). When focusing on severe perinatal-onset LVNC, the higher prevalence of VSD (37–62%) was observed ( 21 – 23 ) and that apical muscular subtype appeared to be an unusually frequent finding compared with the general low prevalence, 10–20% ( 17 ).…”

Non-Compacted Cardiomyopathy in Children and Adolescents: From the Challenge of Echocardiographic Diagnosis to Clinical Follow-Up

“…NCM is morphologically characterized by a myocardium with trabeculations and deep recesses that communicate with the ventricular cavity. It occurs more frequently in the LV but can affect the right ventricle and the interventricular septum as an isolated or mixed phenotype (association with other cardiomyopathies, congenital heart disease, and neuromuscular diseases) [1][2][3]9,10 . Its pathophysiology is still not completely understood, but an embryogenetic failure in the myocardial layer compaction leads to hypertrabeculation and the characteristic spongy appearance.…”

“…NCM can occur at any age, with a very heterogeneous clinical presentation ranging from asymptomatic patients to heart failure (HF), thromboembolic events, arrhythmias, and sudden death 2,6,9 . Different echocardiographic and magnetic resonance diagnostic criteria have been proposed by different authors, hindering an accurate diagnosis 2,8,10 .…”