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Recessively inherited severe aortic aneurysm caused by mutated EFEMP2
Zuhair N Al-Hassnan1, Abdul Rahman Almesned, Sahar Tulbah
1Cardiovascular Genetics Program, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. zhassnan@kfshrc.edu.sa
The American Journal of Cardiology
|March 24, 2012
Summary
Recessive aortic aneurysm (AA) without skin issues can stem from EFEMP2 gene mutations. This study identified a novel EFEMP2 mutation in 9 patients, expanding understanding of inherited aortic aneurysm genetics.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Molecular Biology
Background:
- Familial aortic aneurysm (AA) is typically autosomal dominant.
- Recessive AA, linked to cutis laxa and EFEMP2 mutations, is less common.
- The full spectrum of recessively inherited AA without skin findings is not well-defined.
Purpose of the Study:
- To investigate the genetic basis of recessively inherited aortic aneurysm in families without cutis laxa.
- To characterize the clinical and echocardiographic features of patients with EFEMP2 mutations.
- To identify novel mutations in the EFEMP2 gene associated with AA.
Main Methods:
- Clinical evaluation and cardiac imaging (echocardiogram) of 9 patients from 4 consanguineous families.
- Genome-wide single-nucleotide polymorphism analysis to identify shared homozygous regions.
- Sequence analysis of the EFEMP2 gene to detect mutations.
Main Results:
- Nine patients with recessively inherited AA were identified, with no skin manifestations of cutis laxa.
- Echocardiograms showed a wide spectrum of AA severity (Z-score 5-33) and intrafamilial variability.
- A novel homozygous EFEMP2 mutation (p.E161K) was identified in all affected subjects.
Conclusions:
- The EFEMP2 gene is implicated in recessively inherited aortic aneurysm, even in the absence of cutis laxa.
- This study defines the phenotypic spectrum associated with EFEMP2 mutations in AA.
- Molecular analysis of EFEMP2 should be considered in families with apparently recessive AA.
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