Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

doi:10.1016/j.ejcts.2007.02.027

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Article

Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery - 1 Jun 2007

Waldmüller Stephan, Müller Melanie, Warnecke Henning, Rees Wolfgang, Schöls Wolfgang, Walterbusch Gerhard, Ennker Jürgen, Scheffold Thomas

Abstract excerpt

OBJECTIVE: Mutations in the genes encoding fibrillin-1 (FBN1) and transforming growth factor beta receptor type II (TGFBR2) are known causes of Marfan syndrome (MFS) and related disorders. However, a sound correlation between the genotype and the cardiovascular phenotype has not yet been established. The objective of the present study was to identify novel mutations in FBN1 and TGFBR2 and to assess whether the...

Topics

Adolescent
Adult
Aortic Dissection
Aorta
Aortic Aneurysm
Calcium-Binding Proteins
Cohort Studies
Epidermal Growth Factor
Female
Fibrillin-1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fibrillins

Genotype

Heart Valves

Humans

Male

Marfan Syndrome

Microfilament Proteins

Middle Aged

Source

Open in PubMed

Identifiers

PMID: 17418587
DOI: 10.1016/j.ejcts.2007.02.027

Genes

FBN1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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