Molecular Cardio-Genetics Research
Aida M Bertoli-Avella, M.D., Ph.D.

Our endeavor is the identification and characterization of genes involved in the monogenic forms of congenital heart diseases (CHD) and in familial aortic aneurysms (AA) aiming at the elucidation of the disease mechanisms.

Congenital heart defects
Congenital heart defects affect 1-2% of newborns, moreover, they account for 25% of all human congenital abnormalities. Despite the heritable nature of some forms of CHD, a few causing genes have been identified so far. The identification of the genetic causes will help our understanding of the affected biological processes that lead to structural heart defects.

Aortic aneurysm
Aortic aneurysm (AA) is a potential fatal disease occurring with increasing frequency in the aging population, its prevalence has been estimated at 3% in individuals over the age of 50. AA is a complex disorder with a strong genetic component. The identification of genes leading to AA will contribute to risk stratification in affected families, early diagnosis and prevention of irrevocable aortic damage and eventually add to our knowledge of the mechanisms involved in aortic wall deterioration. NEWS!!!:

Cardiomyopathies
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Other genetic studies
The DNA research section of the Department of Clinical Genetics is also involved in genome wide searches, linkage and mutation analyses of other genetic disorders such as Congenital or primary Thrombocytopenia, Vesicoureteral reflux, and Premature ovarian failure.

Collaboration with other Departments within the Erasmus MC (Cardiology, Internal Medicine, Bioinformatics, Neurology, Obstetrics and Gynecology) as well as with the Pediatric Department of the University of Naples, Italy, is essential for the ascertainment and characterization of patients and their families.

Contact information:

Dr. Aida M. Bertoli-Avella
Phone: +31 10 7044628
Fax :+31 10 7044736
E-mail: a.bertoliavella@erasmusmc.nl

Visiting address:
Erasmus MC University Medical Center
Dept. Clinical Genetics
Room Ee9-71
Dr. Molewaterplein 50
3015 GE Rotterdam
The Netherlands  

Mailing address:
Erasmus MC University Medical Center
Department of Clinical Genetics
Room Ee9-71
P.O. Box 2040
3000 CA Rotterdam
The Netherlands