Karin van Spaendonck-ZwartsPrincipal Investigator CVON-DOSIS

Brief summary of research over the last five years

The research interest of van Spaendonck is to identify genetic causes of cardiomyopathies and to detect the clinical implications of this. She has over ten years of experience in clinical genetic testing and patient orientated research in genetic cardiomyopathies, working in two different university medical centers. She is eager to cross functional boundaries and to collaborate with more fundamental researchers. Her PhD studies were about gene-environment interactions in inherited cardiomyopathies. Main findings were the interaction between pregnancy and chemotherapy and genetic cardiomyopathy. She continues her research with focus on dilated cardiomyopathy (especially TTN cardiomyopathy), pregnancy in cardiomyopathies, neuromuscular involvement in cardiomyopathies, and pediatric cardiomyopathy. She was awarded the Ben ter Haar prize in 2015. This is a prestigious award meant to stimulate research talent with an established track record in the clinical genetics community.



Current Positions

Since 2011 Clinical geneticist at Amsterdam Medical Center



Top 5 recent publications

1. Jansweijer JA*, Nieuwhof K*, Russo F, Hoorntje ET, Jongbloed JDH, Lekanne Deprez RH, Postma AV, Bronk M, van Rijsingen IAW, de Haij S, Biagini E, van Haelst PL, van Wijngaarden JD, van den Berg MP, Wilde AAM, Mannens MAM, de Boer RA, van Tintelen JP**, Pinto YM**, van Spaendonck-Zwarts KY**. Truncating titin mutations cause a mild and treatable form of dilated cardiomyopathy. Accepted for publication at European Journal of Heart Failure 2016. *and ** These authors contributed equally (IF 6.53)

2. van Spaendonck-Zwarts KY, Posafalvi A, Hilfiker-Kleiner D, Sliwa K, Alders M, Almomani R, van Veldhuisen DJ, van Langen IM, Sinke RJ, van der Velden J, van den Berg MP, van Tintelen JP*, Jongbloed JDH*. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy. European Heart Journal 2014, 35: 2165-2173. (IF 15.20)

3. van Spaendonck-Zwarts KY, van Tintelen JP, van Veldhuisen DJ, van der Werf R, Jongbloed JDH, Paulus WJ, Dooijes D, van den Berg MP. Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy. Circulation 2010; 121: 2169-2175. (IF 14.43)

4. Spaendonck-Zwarts KY*, van Rijsingen IAW*, van den Berg MP, Lekanne dit Deprez RH, Post JG, van Mil AM, Asselbergs F, Christiaans I, van Langen IM, Wilde AAM, de Boer RA, Jongbloed JDH, Pinto Y**, van Tintelen JP**. Yield of genetic analysis in 418 index-patients with idiopathic dilated cardiomyopathy; overview of 10 years’ experience. European Journal of Heart Failure 2013, 15: 628-636. *The first two authors contributed equally, **The last two authors contributed equally (IF 6.58)

5. Ho CY, Charon P, Richard P, Girolami F, van Spaendonck-Zwarts KY, Pinto YM. Genetic causes of sarcomeric cardiomyopathies: state of the art. Cardiovascular Research 2015, 105: 397-408. (IF 5.47)



Selection of ongoing projects


2015  Cardiovasculair Onderzoek Nederland (CVON) research grant. Determinants of susceptibility in inherited cardiomyopathy: towards novel therapeutic approaches. Acronym: Dosis. Coordinators: Jolanda van der Velden (VUMC) & Rudolf de Boer (UMCG). National consortium grant.

2013  Rembrandt Research grant. Functional genomics to identify the pathomechanisms of human dilated cardiomyopathy caused by mutations in the giant sarcomeric protein titin. Jolanda van der Velden (VUMC) & Yigal Pinto (AMC) (PhD project).