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March 5th, 2026 - Collaboration with @CHD_Doodles on Left Ventricular Non-Compaction (LVNC).
"Left Ventricular Non Compaction (LVNC) is a rare type of cardiomyopathy. The LV chamber is normally smooth; in LVNC the muscle can appear spongy or hypertrabeculated. Important considerations:
There’s debate about whether LVNC is a true genetic heart disease or just a structural pattern that can also appear in normal or remodeled hearts.
Different imaging criteria (echo vs. cardiac MRI) can give different answers, the same patient may meet criteria on one test but not another.
With more advanced imaging, LVNC is being found more often (athletes, pregnant patients, and people with other types of enlarged hearts) raising concerns about overdiagnosis.
Not everyone with prominent trabeculations develops heart failure, arrhythmias, or blood clots. Because of this, many experts now think of LVNC as a morphologic pattern that must be interpreted in clinical context, rather than automatically labeling it a separate disease.
Left ventricular non-compaction (LVNC), also known as ventricular hypertrabeculation, is a rare congenital cardiomyopathy. This condition is characterized by a unique and prominent trabecular meshwork and deep intratrabecular recesses, leading to a distinctive appearance of a two-layered myocardium: a thin, compacted epicardial layer and a thick, non-compacted endocardial layer.
Etiology and Genetics
LVNC can occur in isolation or in conjunction with other cardiac anomalies (such as Ebstein, ventricular septal defects or other anomalies). While the exact cause is still under investigation, studies suggest that it may be due to an arrest in the normal process of endomyocardial morphogenesis during fetal development. Genetic factors have been strongly implicated, with many cases displaying an autosomal dominant inheritance pattern.
Several genes associated with LVNC have been identified, including MYH7, MYBPC3, and TTN, among others. Genetic counseling and testing may be considered in some cases to determine risk in siblings and for future offspring.
Clinical Presentation
The clinical presentation of LVNC in newborns varies widely, from asymptomatic to severe heart failure. The variability in presentation is believed to be due to differences in the degree and location of non-compaction, and possibly the co-occurrence of other cardiac abnormalities. Symptoms may include poor feeding, failure to thrive, difficulty breathing, and excessive fatigue or lethargy.
Diagnosis
Diagnosis of LVNC is usually established through echocardiography, which reveals the characteristic appearance of a two-layered myocardium. Additional imaging modalities like Cardiac Magnetic Resonance Imaging (CMRI) may be used to confirm the diagnosis.
Specific echocardiographic criteria for LVNC have been proposed, although there is currently no universally accepted standard. The most commonly used criteria include the ratio of non-compacted to compacted myocardium, with a ratio greater than 2.0 in end-systole generally considered diagnostic.
Jenni Criteria: This includes the presence of numerous prominent trabeculations and deep intertrabecular recesses. It defines non-compacted to compacted myocardial ratio greater than 2:1 measured at end-systole in the parasternal short-axis view as diagnostic of LVNC.
Chin et al. Criteria: It includes the presence of two distinct myocardial layers, a thin, compacted epicardial layer, and a much thicker non-compacted endocardial layer with prominent trabeculations and deep intertrabecular recesses.
Stöllberger and Finsterer Criteria: In addition to features of two distinct myocardial layers, it requires the presence of color Doppler flow within the deep intertrabecular recesses.
Petersen et al. Criteria: Non-compacted to compacted myocardial ratio of > 2.3:1 at end-diastole on cardiac magnetic resonance imaging (CMR) was diagnostic of LVNC in their study. Although this criterion was designed for CMR, some practitioners use it for echo as well.
Controversy about LV non-compaction - read great article here: Left ventricular non-compaction (LVNC) remains controversial because there is ongoing debate about whether it represents a distinct genetic cardiomyopathy or simply a morphological phenotype that can be seen in normal or physiologically remodeled hearts. Diagnostic criteria vary substantially between echocardiographic and cardiac MRI definitions, and depending on which criteria are applied, the same patient may or may not meet the diagnosis. Increased use of advanced imaging has led to higher detection rates, including in athletes, pregnant individuals, and patients with dilated ventricles from other causes, raising concerns about overdiagnosis. Furthermore, not all individuals with prominent trabeculations develop systolic dysfunction, arrhythmias, or thromboembolic events, which challenges the assumption that trabeculation alone defines a pathologic entity. As a result, many experts now view LVNC less as a standalone disease and more as a phenotypic descriptor that must be interpreted in clinical context.
Newborn with hypertrabeculations at the LV Apex
Newborn with hypertrabeculations at the LV Apex
Management and Prognosis
Management of LVNC in newborns is largely symptomatic and aims to manage and prevent heart failure and arrhythmias, which are the most common complications. Treatment may include medications, such as ACE inhibitors, beta-blockers, and diuretics. In the context of cardiac failure, there is an increased risk of clot and some of these patients may require anti-coagulation.
In severe cases, or in the event of progressive heart failure, cardiac transplantation may be considered. Regular follow-up with a pediatric cardiologist is essential to monitor the condition and adjust treatment as needed.
Prognosis varies and can be influenced by factors such as the severity of the condition, the presence of other congenital heart defects, and the newborn's overall health.
Conclusion
LVNC is a complex and heterogeneous disorder. While advances in genetics and imaging modalities have increased our understanding of this condition, further research is required to elucidate its pathophysiology, optimize diagnostic criteria, and improve management and outcomes for affected newborns. Continuing education and awareness among healthcare professionals in the field of pediatric cardiology are crucial for early detection and timely intervention.
CRP2016-5172308.pdf
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