Prof. C. Bezzina PhD

Prof. PhD C. Bezzina

Position

Full Professor

Main activities

Research

Specialisation

Genetics of cardiac disorders

Focus of research

Our group conducts translational research aimed at identifiying genetic risk factors underlying cardiac disorders. Our research focuses on:

- Inherited disorders associated with increased risk of sudden cardiac death in young individuals. This includes the primary electrical disorders (e.g. the Long QT Syndrome, cardiac conduction disease and Brugada Syndrome) and the cardiomyopathies (e.g. hypertrophic cardiomyopathy).

- Risk of sudden cardiac death in the setting of acquired cardiac disease, namely ventricular fibrillation in the setting of acute myocardial ischemia or infarction.

- Congenital heart disease.

Besides efforts related to gene discovery, we also conduct functional studies in experimental model systems (e.g., transgenic mice, cardiomyocytes derived from induced pluripotent stem cells) on newly-identified genes or mutations. This allows us to gain insight into the involvement of the given gene or mutation into the pathophysiological mechanism underlying the diseases.

In our research we use amongst others the following tools:

Exome sequencing

Genomewide association studies

Expression QTL studies

Transgenesis

Electrophysiological studies (e.g. patch-clamp, optical mapping)

Amsterdam UMC Research Institutes

ACS - Heart failure & arrhythmias

AMC departments

Cardiology

Key publications

Bezzina Connie R., Barc Julien, Mizusawa Yuka, Remme Carol Ann, Gourraud Jean-Baptiste, Simonet Floriane, Verkerk Arie O., Schwartz Peter J., Crotti Lia, Dagradi Federica, Guicheney Pascale, Fressart Véronique, Leenhardt Antoine, Antzelevitch Charles, Bartkowiak Susan, Borggrefe Martin, Schimpf Rainer, Schulze-Bahr Eric, Zumhagen Sven, Behr Elijah R., Bastiaenen Rachel, Tfelt-Hansen Jacob, Olesen Morten Salling, Kääb Stefan, Beckmann Britt M., Weeke Peter, Watanabe Hiroshi, Endo Naoto, Minamino Tohru, Horie Minoru, Ohno Seiko, Hasegawa Kanae, Makita Naomasa, Nogami Akihiko, Shimizu Wataru, Aiba Takeshi, Froguel Philippe, Balkau Beverley, Lantieri Olivier, Torchio Margherita, Wiese Cornelia, Weber David, Wolswinkel Rianne, Coronel Ruben, Boukens Bas J., Bézieau Stéphane, Charpentier Eric, Chatel Stéphanie, Despres Aurore, Gros Françoise, Kyndt Florence, Lecointe Simon, Lindenbaum Pierre, Portero Vincent, Violleau Jade, Gessler Manfred, Tan Hanno L., Roden Dan M., Christoffels Vincent M., Le Marec Hervé, Wilde Arthur A., Probst Vincent, Schott Jean-Jacques, Dina Christian, Redon Richard Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death Nature genetics 2013;45 (9):1044-1049 [PubMed]
Lodder Elisabeth M., de Nittis Pasquelena, Koopman Charlotte D., Wiszniewski Wojciech, Moura de Souza Carolina Fischinger, Lahrouchi Najim, Guex Nicolas, Napolioni Valerio, Tessadori Federico, Beekman Leander, Nannenberg Eline A., Boualla Lamiae, Blom Nico A., de Graaff Wim, Kamermans Maarten, Cocciadiferro Dario, Malerba Natascia, Mandriani Barbara, Akdemir Zeynep Hande Coban, Fish Richard J., Eldomery Mohammad K., Ratbi Ilham, Wilde Arthur A. M., de Boer Teun, Simonds William F., Neerman-Arbez Marguerite, Sutton V. Reid, Kok Fernando, Lupski James R., Reymond Alexandre, Bezzina Connie R., Bakkers Jeroen, Merla Giuseppe GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability American journal of human genetics 2016;99 (3):704-710 [PubMed]
Marsman Roos F., Barc Julien, Beekman Leander, Alders Marielle, Dooijes Dennis, van den Wijngaard Arthur, Ratbi Ilham, Sefiani Abdelaziz, Bhuiyan Zahurul A., Wilde Arthur A. M., Bezzina Connie R. A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence Journal of the American College of Cardiology 2014;63 (3):259-266 [PubMed]
Milano Annalisa, Vermeer Alexa M. C., Lodder Elisabeth M., Barc Julien, Verkerk Arie O., Postma Alex V., van der Bilt Ivo A. C., Baars Marieke J. H., van Haelst Paul L., Caliskan Kadir, Hoedemaekers Yvonne M., Le Scouarnec Solena, Redon Richard, Pinto Yigal M., Christiaans Imke, Wilde Arthur A., Bezzina Connie R. HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy Journal of the American College of Cardiology 2014;64 (8):745-756 [PubMed]
Lodder Elisabeth M., Scicluna Brendon P., Milano Annalisa, Sun Albert Y., Tang Hao, Remme Carol Ann, Moerland Perry D., Tanck Michael W. T., Pitt Geoffrey S., Marchuk Douglas A., Bezzina Connie R. Dissection of a Quantitative Trait Locus for PR Interval Duration Identifies Tnni3k as a Novel Modulator of Cardiac Conduction PLoS genetics 2012;8 (12):e1003113 [PubMed]