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Left Ventricular Noncompaction Syndrome
Kateryna Strubchevska1, Olena Strubchevska2, Marko Kozyk3
1From the Departments of Medicine, New York Medical College and Westchester Medical Center, Valhalla, NY.
Insights
Left ventricular noncompaction (LVNC) is a challenging heart muscle disease with debated classifications and a complex genetic basis. Its diagnostic criteria overlap with other conditions, complicating accurate identification and risk assessment.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Left ventricular noncompaction (LVNC) is a primary cardiomyopathy affecting the left ventricle, with potential right ventricular or biventricular involvement.
- It can co-occur with neuromuscular disorders, congenital heart defects, and chromosomal abnormalities.
- Current classifications are debated, with differing views from major cardiovascular societies regarding its genetic or unclassified status.
Purpose of the Study:
- To explore the classification challenges and diagnostic criteria of left ventricular noncompaction (LVNC).
- To discuss the genetic landscape and phenotypic overlap of LVNC with other cardiomyopathies.
- To highlight the implications of diagnostic criteria in various physiological states.
Main Methods:
- Review of existing literature and classification systems for LVNC.
- Analysis of diagnostic criteria based on trabeculated to compacted myocardium ratio.
- Examination of phenotypic overlap with hypertrophic and dilated cardiomyopathies.
Main Results:
- LVNC classification remains controversial due to its heterogeneity and differing societal categorizations.
- Diagnostic criteria for LVNC are found in individuals without cardiomyopathy, including athletes and pregnant women.
- The genetic basis of LVNC is complex, with significant overlap with other cardiomyopathies.
Conclusions:
- The traditional classification of LVNC is challenged by its complex genetics and diagnostic ambiguities.
- Accurate diagnosis of LVNC requires careful consideration of its heterogeneous nature and potential overlap with other conditions.
- Despite being often asymptomatic, LVNC carries risks including thromboembolic events, heart dysfunction, arrhythmias, and sudden cardiac death.
Abstract:
Left ventricular noncompaction (LVNC) has been classified as a primary cardiomyopathy, predominantly involving the left ventricle, although right ventricular and biventricular involvement have also been reported. The condition may coexist with neuromuscular disorders, congenital cardiac anomalies, and chromosomal abnormalities. Despite its established recognition, LVNC continues to pose a significant challenge, with divergent classifications among major societies: the American Heart Association categorizes LVNC as a primary genetic cardiomyopathy, whereas the European Society of Cardiology and the World Health Organization consider it an unclassified cardiomyopathy. This discordance reflects the condition's marked heterogeneity; while historically attributed to embryogenic arrest, contemporary evidence supports a complex genetic landscape with substantial phenotypic overlap with hypertrophic and dilated cardiomyopathies. Consequently, the traditional classification remains controversial, as diagnostic criteria based on the ratio of trabeculated to compacted myocardium have been identified in up to 20% of individuals without cardiomyopathy and have also been observed in physiological states such as pregnancy and in athletes, likely reflecting adaptive responses to increased preload. Although LVNC is frequently asymptomatic, a subset of patients is at increased risk of thromboembolic events, left ventricular systolic dysfunction, malignant arrhythmias, and sudden cardiac death.
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