Correlation between pathoanatomic findings, imaging modalities, and genetic findings in patients with left

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.

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