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aortic aneurysm, familial thoracic 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic aneurysm, familial thoracic 4

MONDO:0007568

Also known as:MYH11 familial thoracic aortic aneurysm and aortic dissectionaortic aneurysm, familial thoracic type 4familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11

Overview

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.

GeneticsAutosomal dominant · MYH11 (chr 16)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Posterior cerebral artery stenosis, Carotid artery stenosis, Middle cerebral artery stenosis, and Anterior cerebral artery stenosis and others; and common findings: Ascending tubular aorta aneurysm, Thoracic aortic aneurysm, and Ascending aortic dissection. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	9	Stroke, Thoracic aortic aneurysm, Abnormal left ventricular function

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MYH11 encodes myosin heavy chain 11 (1,972 aa). Muscle contraction Highest expression in Esophagus Muscularis (8,418 TPM) and Colon Sigmoid (7,101 TPM).

Aortic aneurysm, familial thoracic 4 is associated with mutations in the MYH11 gene on chromosome 16.

The MYH11 protein participates in Smooth muscle/non-muscle myosin II, p-T19-MRLC-Smooth muscle/non-muscle myosin II, and p-T19,S20-MRLC-smooth muscle/non-muscle myosin II pathways.

MYH11 is classified as a druggable target (Clinically Actionable category) with score 0.0.

Diagnosis

Genetic testing for MYH11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for aortic aneurysm, familial thoracic 4.

4 publications have been identified in PubMed for aortic aneurysm, familial thoracic 4. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Atash A (2026). [PMID: 41891259](https://pubmed.ncbi.nlm.nih.gov/41891259/). *Eur J Clin Invest*. [Review / Meta-Analysis]
Pascucci F (2026). [PMID: 40803037](https://pubmed.ncbi.nlm.nih.gov/40803037/). *Vascular*. [Case Report / Case Series]
Dreher L (2025). [PMID: 40981152](https://pubmed.ncbi.nlm.nih.gov/40981152/). *Med Sci (Basel)*. [Review / Meta-Analysis]
Soler LM (2025). [PMID: 40248003](https://pubmed.ncbi.nlm.nih.gov/40248003/). *J Vasc Surg Cases Innov Tech*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:132900

GARD

Genetic and Rare Diseases Info Center

GARD:9876

Questions for Your Care Team

→Should I pursue genetic testing for MYH11, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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aortic aneurysm, familial thoracic 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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