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Published on: November 2, 2020
[Clinical and genetic features of left ventricular noncompaction: a continuum in cardiomyopathies]
Massimo Baldi1, Aurelio Sgalambro, Stefano Nistri
1Centro di Riferimento Regionale per le Cardiomiopatie di Firenze, Dipartimento Area Critica, Università degli Studi, Azienda Ospedaliero-Universitaria Careggi, Firenze.
Insights
Isolated left ventricular non-compaction (LVNC) is a rare cardiomyopathy. Improved diagnostic criteria enhance detection, revealing potential links to other heart conditions and genetic mutations.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Isolated left ventricular non-compaction (LVNC) is a rare genetic cardiomyopathy.
- Characterized by prominent ventricular trabeculation and deep recesses.
- Clinical presentation varies widely, from asymptomatic to severe heart failure and sudden death.
Purpose of the Study:
- To discuss the diagnostic challenges and advancements in identifying LVNC.
- To explore the association of LVNC with other cardiac disorders.
- To investigate the potential genetic continuum between LVNC and other cardiomyopathies.
Main Methods:
- Review of diagnostic criteria for LVNC.
- Analysis of recent studies on LVNC prevalence and associations.
- Exploration of genetic data linking LVNC to other cardiomyopathies.
Main Results:
- LVNC diagnosis is often missed due to low awareness.
- High-resolution echocardiography and cardiac MRI have improved diagnostic sensitivity.
- LVNC is increasingly diagnosed alongside congenital heart disease and other genetic cardiomyopathies.
Conclusions:
- Enhanced diagnostic tools are improving LVNC detection.
- Evidence suggests a shared genetic background between LVNC and other cardiomyopathies like hypertrophic and dilated CM.
- This genetic overlap may illuminate common pathogenic mechanisms in cardiomyopathies.
Abstract:
Isolated left ventricular non-compaction (LVNC) is a rare genetic form of cardiomyopathy (CM) characterized by prominent left ventricular wall trabeculation and intertrabecular recesses communicating with the ventricular cavity. Clinical signs are variable, ranging from lack of symptoms to severe manifestations including heart failure, sustained ventricular arrhythmias, cardioembolism and sudden death. The diagnosis of LVNC is frequently missed, due to limited awareness in the medical community. Contemporary diagnostic sensitivity has been enhanced by the introduction of specific morphologic criteria by high resolution echocardiography and cardiac magnetic resonance. As a consequence, LVNC has been diagnosed more frequently in association with other disorders such as congenital heart disease or genetic CM. The clinical relevance of regional non-compaction in the context of other cardiac diseases is still uncertain. Recent evidence points to an overlapping genetic background encompassing LVNC, hypertrophic and dilated CM, suggesting a continuum of disease associated with sarcomere protein gene mutations. This concept may prove relevant to the understanding of common pathogenetic mechanisms of CM and offer novel research opportunities.
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