# Beyond the tear: the enduring role of aortic pathology in the era of genomic medicine

**Authors:** Nimrat Grewal, Hans W M Niessen

PMC · DOI: 10.1136/openhrt-2026-004003 · Open Heart · 2026-03-19

## TL;DR

This paper argues that examining only the dissected part of the aorta may miss important disease features, emphasizing the need for better tissue sampling and pathology in understanding aortic disease.

## Contribution

The paper highlights the limitations of relying solely on dissected aortic tissue and advocates for improved tissue sampling and reporting standards.

## Key findings

- Structural aortic wall abnormalities often exist before dissection and may extend beyond the affected area.
- Histopathological analysis provides critical context for interpreting genetic variants in aortic disease.
- Routine sampling of dissected tissue may not fully represent the underlying disease process.

## Abstract

Thoracic aortic dissection is often approached as an acute and localised event, and pathological examination has traditionally focused on the dissected segment. In daily practice, however, most clinicians recognise that the dissection itself is rarely the starting point of disease. Structural abnormalities of the aortic wall are frequently present long before rupture occurs and may extend well beyond the site of failure.

At the same time, the diagnostic landscape of thoracic aortic disease is changing rapidly. Advances in genetic and molecular techniques have increased the detection of potentially disease-causing variants, but their clinical interpretation remains challenging. In this setting, histopathological examination of the aortic wall provides essential phenotypic context and continues to play a key role in recognising and interpreting genetic disease. The value of pathology, however, depends strongly on the representativeness of the sampled tissue.

In this Brief Communication, we discuss why routine reliance on dissected aortic tissue may be insufficient to characterise the underlying disease process. We argue for a more deliberate approach to tissue selection, with attention to macroscopically intact aortic segments, and highlight the importance of standardised reporting and appropriate biobanking infrastructure. Despite ongoing advances in genomic medicine, careful pathological examination of the aorta remains a cornerstone in understanding thoracic aortopathy.

## Full-text entities

- **Genes:** ACTA1 (actin alpha 1, skeletal muscle) [NCBI Gene 58] {aka ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYO2A}, ELN (elastin) [NCBI Gene 2006] {aka ADCL1, SVAS, WBS, WS}
- **Diseases:** ischaemic (MESH:D018917), haemorrhage (MESH:D006470), injury (MESH:D014947), oedema (MESH:C536897), structural abnormalities of the aortic wall (MESH:C566527), Thoracic aortopathy (MESH:D013896), Thoracic aortic dissection (MESH:D000094629), inflammation (MESH:D007249), genetic abnormalities (MESH:D030342), medial degeneration (MESH:D009410), rupture (MESH:D012421), acute failure (MESH:D058186), aortic dissection (MESH:D000784), heritable disorder (MESH:D065627), abnormalities of the aortic wall (MESH:D056988), acute aortic dissection (MESH:D000094683)
- **Chemicals:** Movat pentachrome (-), H&amp;E (MESH:D006371)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC13007064/full.md

## References

13 references — full list in the complete paper: https://tomesphere.com/paper/PMC13007064/full.md

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Source: https://tomesphere.com/paper/PMC13007064