Universitą degli studi di Pavia


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Gambarin research activity

Genetic Cardiovascular Diseaes.

In the field of family screening I manage the following pathologies:

- aneurysmatic diseases due to defects of the genes that encode for collagen proteins: Marfan Syndrome, Loeys Dietz Syndrome, Thoracic Aortic Aneurism and Dissection Syndromes (TAAD Syndromes), Ehlers-Danlos Sindrome type IV (Vascular type).
I manage the organization of the clinical trial tat starter in 2008, which evaluates the effects of Losartan therapy vs Nebivolol vs the association of both in patients affected by Marfan Syndrome, with genetic confirmation.

- Familial Dilated Cardiomyopathies.
I am Associated Investigator in the INHERITANCE project (INtegrated HEart Research In TrANslational genetics of dilated Cardiomyopathies in Europe), which is now ongoing at the Centre for Inherited Cardiovascular Diseases directed by prof. Eloisa Arbustini. This study aims at applying the study of genomics, metabolomics, proteomics and transcriptomics in daily clinical practice and in family screening of cardiomyopathies and proband’s study, either genetically diagnosed or without genetic definition.

- Familial Hypertrophic Cardiomyopathies

- Idiopathic Restrictive Cardiomyopathies

- Arrhythmogenic Right Ventricular Diplasia (ARVD).
I study the clinical and instrumental way of diagnosing patients referred to our Centre with suspect of ARVD or family history of sudden cardiac death. I orient the genetic and molecular laboratory testing on the basis of clinical characteristics.

- Mithocondrial Cardiomyopathies

- Lysosomial Cardiomyopathies.
In particular Fabry Disease, due to alpha-galactosidase deficiency. I participate as clinical investigator in FOS (Fabry Outcome Survey), the Italian Registry of Fabry Disease. I dedicated to the cardiologic and multispecialistic approach to this disease a recent review artcle, which aims at reducing the severe temporal gap now existing in the istory of these patients.

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