Correlation between pathoanatomic findings, imaging modalities, and genetic findings in patients with left ventricular hypertrabeculation/noncompaction
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Updated: Nov 4, 2025

Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography
Published on: October 28, 2020
Claudia Stöllberger1, Josef Finsterer1
1Klinik Landstraße, Wien, Austria.
Insights
Left ventricular hypertrabeculation (LVHT) diagnosis relies on imaging, but definitions need validation. Echocardiography and cardiac MRI show promise, but standardized criteria are crucial for accurate diagnosis and avoiding overdiagnosis.
Area of Science:
- Cardiology
- Medical Imaging
- Genetics
Background:
- Left ventricular hypertrabeculation (LVHT), also known as noncompaction, is a cardiac abnormality.
- Diagnosis is typically made through pathoanatomic investigation or during cardiac surgery.
- Various imaging techniques, including echocardiography, cardiac magnetic resonance imaging (CMRI), ventriculography, and computed tomography (CT), are used to visualize LVHT.
Purpose of the Study:
- To assess the validation of LVHT definitions against criterion standards.
- To determine the frequency of inter- and intra-observer agreement assessment for LVHT definitions.
- To evaluate the association between LVHT and genetic diseases.
Main Methods:
- Literature search of 58 cases with pathoanatomic investigation and at least one imaging technique.
- Comparison of LVHT definitions across different imaging modalities (echocardiography, CMRI, ventriculography, CT) against pathoanatomy.
- Analysis of reported inter- and intra-observer agreement and genetic findings.
Main Results:
- Echocardiography was most frequently compared with pathoanatomy (95%), followed by CMRI (31%).
- Inter- and intra-observer agreement was more consistently assessed for CMRI than for echocardiography.
- Genetic findings were reported in only 4 cases, precluding association analysis with imaging.
Conclusions:
- Correlation between pathoanatomic and imaging investigations is essential for reliable LVHT definitions.
- An integrated echocardiographic definition, combining short axis and four-chamber views, is likely.
- Refinement of CMRI definitions, incorporating pathoanatomic and echocardiographic data, is needed to prevent overdiagnosis.
Abstract:
Introduction: Left ventricular hypertrabeculation, also named 'noncompaction' (LVHT) is a cardiac abnormality which is detected by pathoanatomic investigation or during cardiac surgery. Imaging techniques visualize LVHT by ventriculography, echocardiography, cardiac magnetic resonance imaging (CMRI) and computed tomography (CT).Areas covered: We aimed to assess 1) how often the definition of LVHT was validated against a criterion standard, 2) if inter- and intra-observer agreement was assessed, and 3) how often LVHT was associated with genetic diseases. A literature search disclosed 58 cases whose hearts were investigated pathoanatomically and by ≥1 imaging technique. Echocardiography was most frequently (95%) compared with pathoanatomy, followed by cMRI (31%), ventriculography (7%) and CT (5%). Intra- and inter-observer agreement was more frequently assessed for cMRI definitions and yielded more consistent results than for echocardiographic definitions. Since genetic findings were only reported from 4 of the 58 cases, no association with imaging findings could be carried out.Expert opinion: Correlation between pathoanatomic investigations with imaging techniques will hopefully contribute to reliable and uniformly accepted definitions of LVHT. Most probably, the echocardiographic definition of LVHT will be a synthesis of the currently used definitions, integrating short axis and four-chamber views. A refinement of cMRI definitions, considering pathoanatomic and echocardiographic investigations, seems necessary to avoid overdiagnosis.
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