# Peripheral arterial lesions detected by vascular ultrasound and their association with aortic events in heritable thoracic aortic diseases

**Authors:** Maxime Mongault, Amer Hamade, Corina Mirea, Patrick Ohlmann, Philippe Billaud, Anne Lejay, Salima El Chehadeh, Elena-Mihaela Cordeanu, Dominique Stephan

PMC · DOI: 10.1016/j.ijcha.2026.101898 · International Journal of Cardiology. Heart & Vasculature · 2026-02-27

## TL;DR

This study shows that peripheral arterial lesions are common in patients with heritable thoracic aortic diseases and may help predict aortic events.

## Contribution

The study introduces a systematic vascular ultrasound approach to detect peripheral arterial lesions in HTAD patients and links them to aortic events.

## Key findings

- PPAL were found in 63.9% of HTAD patients, with ectasia being the most common type.
- Peripheral aneurysms were significantly associated with aortic dissection.
- Higher lesion burden was linked to a greater likelihood of aortic surgery.

## Abstract

Peripheral arterial involvement is increasingly recognized in patients with Marfan syndrome and related heritable thoracic aortic diseases (HTAD), yet its prevalence and clinical relevance remain poorly defined. We aimed to assess the prevalence, anatomical distribution, and association with aortic events of primary peripheral arterial lesions (PPAL) in a genetically characterized HTAD cohort.

We performed a cross-sectional, single-center study including 61 patients with genetically confirmed HTAD who underwent comprehensive pan-arterial vascular ultrasound. PPAL were classified as aneurysm, ectasia, arterial tortuosity, or mega-artery. Associations between PPAL and aortic events (dissection and/or prophylactic surgery) were evaluated.

PPAL were identified in 39 patients (63.9%), totaling 126 lesions. Ectasia was most frequent (39%), followed by tortuosity (33%), aneurysms (25%), and mega-arteries (21%). Supra-aortic trunks were the most commonly affected territory. Peripheral aneurysms were significantly associated with aortic dissection (odds ratio [OR] 3.60, 95% confidence interval [CI] 1.03–12.54, p = 0.050). Ectasia was associated with the composite endpoint of dissection and/or surgery (OR 3.19, p = 0.040). A higher lesion burden (≥2 lesion types) was significantly associated with aortic surgery (OR 3.80, p = 0.032).

PPAL are highly prevalent in HTAD patients and can be systematically identified using vascular ultrasound. Peripheral aneurysms are associated with aortic dissection, suggesting that comprehensive pan-arterial assessment may improve risk stratification.

## Linked entities

- **Diseases:** Marfan syndrome (MONDO:0007947)

## Full-text entities

- **Genes:** MYLK (myosin light chain kinase) [NCBI Gene 4638] {aka AAT7, KRP, MLCK, MLCK1, MLCK108, MLCK210}, ACTA2 (actin alpha 2, smooth muscle) [NCBI Gene 59] {aka ACTSA, SMDYS}, FLNA (filamin A) [NCBI Gene 2316] {aka ABP-280, ABPX, CSBS, CVD1, FGS2, FLN}, COL4A1 (collagen type IV alpha 1 chain) [NCBI Gene 1282] {aka BSVD, BSVD1, COL4A1s, PADMAL, RATOR}, TGFBR2 (transforming growth factor beta receptor 2) [NCBI Gene 7048] {aka AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2}, FBN1 (fibrillin 1) [NCBI Gene 2200] {aka ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS}, SLC2A10 (solute carrier family 2 member 10) [NCBI Gene 81031] {aka ATORS, ATS, GLUT10}, LOX (lysyl oxidase) [NCBI Gene 4015] {aka AAT10}, SMAD3 (SMAD family member 3) [NCBI Gene 4088] {aka HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3}, TGFBR1 (transforming growth factor beta receptor 1) [NCBI Gene 7046] {aka AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1}, TGFB3 (transforming growth factor beta 3) [NCBI Gene 7043] {aka ARVD, ARVD1, LDS5, RNHF, TGF-beta3}, TGFB2 (transforming growth factor beta 2) [NCBI Gene 7042] {aka CAEND2, G-TSF, LDS4, TGF-beta2}
- **Diseases:** MFS (MESH:D008382), arteriopathy (MESH:D020212), Ectasia (MESH:D004108), dyslipidemia (MESH:D050171), common iliac artery aneurysm (MESH:D017543), coronary abnormality (MESH:D003327), axillary artery aneurysms (MESH:D002532), distal disease (MESH:D004194), inflammatory (MESH:D007249), complications (MESH:D008107), aortic disease (MESH:D001018), Mitral valve prolapse (MESH:D008945), distal aortic and peripheral aneurysms (MESH:D001014), arterial lesion (MESH:D020765), vasculopathy (MESH:D000090122), Aneurysm (MESH:D000783), vascular diseases (MESH:D014652), diabetes (MESH:D003920), Thoracic Aortic Diseases (MESH:D013896), aortic dissection (MESH:D000784), mesenteric lesion (MESH:D008639), subclavian artery aneurysm (MESH:D013349), aortic root dilation (MESH:D000094628), PAA (MESH:D058729), Arterial tortuosity (MESH:C565942), Ectopia lentis (MESH:D004479), hypertension (MESH:D006973), autosomal dominant connective tissue disorder (MESH:D003240), atherosclerotic (MESH:D050197), scoliosis (MESH:D012600), systemic vascular disorder (MESH:D057772), Arterial abnormalities (MESH:D000071079), HTAD (MESH:D065627), pectus abnormalities (MESH:D066166)
- **Chemicals:** PPAL (-)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12966744/full.md

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12966744/full.md

## References

30 references — full list in the complete paper: https://tomesphere.com/paper/PMC12966744/full.md

---
Source: https://tomesphere.com/paper/PMC12966744