Evidence map›Paper›PMID 42489613›Full record

ArticleJACC. Case reports2026

MYLK Variants of Uncertain Significance as Risk Factors for Aortic Dissection.

Chanseo Lee, Sedem Dankwa, Michela Cupo, Jaihyoung Lee, Yona Lei, Sriharsha Talapaneni, Irbaz Hameed, Prashanth Vallabhajosyula

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Chanseo LeeDivision of Cardiac Surgery, Yale School of Medicine, New Haven, Connecticut, USA. Electronic address: Chanseo.lee@yale.edu.
Sedem DankwaDivision of Cardiac Surgery, Yale School of Medicine, New Haven, Connecticut, USA.
Michela CupoDivision of Cardiac Surgery, Yale School of Medicine, New Haven, Connecticut, USA.
Jaihyoung LeeDivision of Cardiac Surgery, Yale School of Medicine, New Haven, Connecticut, USA.
Yona LeiDivision of Cardiac Surgery, Yale School of Medicine, New Haven, Connecticut, USA.
Sriharsha TalapaneniDivision of Cardiac Surgery, Yale School of Medicine, New Haven, Connecticut, USA.
Irbaz HameedDivision of Cardiac Surgery, Yale School of Medicine, New Haven, Connecticut, USA.
Prashanth VallabhajosyulaDivision of Cardiac Surgery, Yale School of Medicine, New Haven, Connecticut, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMyosin light chain kinase (MYLK) variants of uncertain significance (VUS) are not considered actionable under current guidelines, yet MYLK encodes a kinase essential for vascular smooth muscle contractility, and pathogenic variants are associated with aortic dissection at modest diameters. CASE SUMMARY: We report 8 patients carrying MYLK variants (7 VUS, 1 pathogenic) who developed aortic dissection requiring surgery. In our institutional registry of 1,048 patients undergoing aortic genetic panel testing, MYLK carriers had higher rates of acute aortic syndromes, namely Type A dissections. DISCUSSION: Four phenotypic patterns emerged: dissection at aortic diameters of 40 mm (below guideline thresholds); reoperation at a median of 7 vs 24 months in non-MYLK dissection patients; co-occurring ACTA2 VUS suggesting oligogenic risk amplification; and intrapedigree VUS-to-pathogenic reclassification of the same MYLK V1522A variant across 2 timepoints and testing facilities.

conclusionsThe MYLK variant patient journeys support lower surveillance thresholds and cascade genetic screening.

Indexed as

aortadissectiongenetic disordersgenetics

Identifiers

PMID42489613
PMCPMC13571357

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.