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Updated: Jul 15, 2026
09:32
Measurement of Pulse Propagation Velocity, Distensibility and Strain in an Abdominal Aortic Aneurysm Mouse Model
Published on: February 23, 2020
Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?
Stephan Waldmüller1, Melanie Müller, Henning Warnecke
1Institure for Heart and Curculation Research, University of Witten/Herdecke, Heinstueck 11, D-44225 Dortmund, Germany. waldmueller@herz-kreislaufforschung.de
Summary
Genetic mutations in FBN1 and TGFBR2 cause Marfan syndrome. While mutation type didn't affect aortic dissection incidence, specific FBN1 mutations correlated with distal aortic dissections, aiding risk assessment.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Molecular Biology
Background:
- Marfan syndrome (MFS) and related disorders are linked to mutations in fibrillin-1 (FBN1) and transforming growth factor beta receptor type II (TGFBR2) genes.
- A clear correlation between genotype and cardiovascular phenotype in these conditions remains to be fully established.
Purpose of the Study:
- To identify novel mutations in FBN1 and TGFBR2.
- To investigate the relationship between mutation type and specific cardiovascular subtypes in MFS and related disorders.
Main Methods:
- Clinical records of 36 patients undergoing molecular genetic diagnosis were reviewed.
- A semiautomatic protocol for rapid, cost-effective screening of FBN1 and TGFBR2 genes via direct sequencing was employed.
Main Results:
- Novel mutations were identified in FBN1 (12 patients) and TGFBR2 (2 patients); four patients had a recurrent FBN1 mutation.
- Aortic dissection incidence was independent of mutation type across the cohort.
- Mutations in the calcium-binding epidermal growth factor-like domain of FBN1 were more frequently linked to distal aortic dissections than premature termination codon mutations (p=0.013).
Conclusions:
- Identifying FBN1 or TGFBR2 mutations confirms genetic etiology for vascular findings and aids in identifying at-risk family members for preventive care.
- Routine genetic testing in suspected MFS or thoracic aortic aneurysm/dissection cases can enhance understanding of genotype/phenotype correlations.
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