Prof. Dr. Marc-Phillip Hitz, PhD


Prof. Dr. med. Marc-Phillip Hitz, PhD

University Medical Center Schleswig-Holstein
Clinic for Congenital Heart Defects and Paediatric Cardiology
Cardiovascular Genetics
Quincke-Forschungszentrum (Haus U18)
Rosalind-Franklin Straße 9
24105 Kiel

Email: Marc-Phillip.hitz(at)


Research areas: cardiogenetics of structural heart disease

Marc-Phillip Hitz is DZHK-Professor for Cardiogenetics of structural heart disease at the Christian-Albrechts-University of Kiel. He is a paediatrician and clinical geneticist by training and uses next-generation sequencing technologies to decipher the genetics of congenital heart disease.

Research focus

Research in his lab focuses on applying sequencing technologies to enable a genetic diagnosis for as many children with a structural heart defect as possible. He uses various techniques, including large-scale Next-Generation Sequencing (NGS) of nationwide cohorts and single-cell sequencing to identify strong disease association with novel and already known genes/variants in collaboration with national and international partners. This approach is complemented by genome editing in model organisms to functionally characterise the identified variants and obtain a more detailed insight into disease pathogenesis. The over-arching aim of his group will be to gain a comprehensive understanding of causality, disease progressing, and prevention for patients with CHD.  Therefore, he will focus on applying and integrating multi-omics datasets in patients currently undiagnosed to extend the actionable disease spectrum and foster future treatment strategies among these patients.

Major achievements and awards

  • Award for best presentation Personalized Medicine in the Genomics Era 2011
  • Research Prize German Society of Pediatric Cardiology 2017

Key publications

Hitz M-P, Lemieux-Perreault L-P, Marshall C, et al. Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet. 2012;8(9):e1002903. doi:10.1371/journal.pgen.1002903

Opitz R, Hitz M-P, Vandernoot I, et al. Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 as a Link Between Aberrant Cardiovascular Development and Thyroid Dysgenesis. Endocrinology. Published online October 29, 2014:en.2014-1628. doi:10.1210/en.2014-1628

Hitz M-P, Andelfinger G. Cardiology: Race for healthy hearts. Nature. Published online April 1, 2015. doi:10.1038/nature14379

Al Turki S, Manickaraj AK, Mercer CL, et al. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. Am J Hum Genet. 2016;98(3):592. doi:10.1016/j.ajhg.2016.02.016

Sifrim A, Hitz M-P, Wilsdon A, et al. Distinct genetic architectures for syndromic and non-syndromic congenital heart defects identified by exome sequencing. Nat Genet. 2016;48(9):1060-1065. doi:10.1038/ng.3627

Perez-Riverol Y, Kuhn M, Vizcaíno JA, Hitz M-P, Audain E. Accurate and fast feature selection workflow for high-dimensional omics data. PLoS ONE. 2017;12(12):e0189875. doi:10.1371/journal.pone.0189875

Helm PC, Bauer UMM, Abdul-Khaliq H, et al. Patients with congenital heart defect and their families support genetic heart research. Congenit Heart Dis. 2018;13(5):685-689. doi:10.1111/chd.12630

Hoff K, Lemme M, Kahlert A-K, et al. DNA methylation profiling allows for characterisation of atrial and ventricular cardiac tissues and hiPSC-CMs. Clin Epigenetics. 2019;11(1):89. doi:10.1186/s13148-019-0679-0

Wünnemann F, Ta-Shma A, Preuss C, et al. Loss of ADAMTS19 causes progressive non-syndromic heart valve disease. Nat Genet. Published online December 16, 2019:1-8. doi:10.1038/s41588-019-0536-2

Dass G, Vu M-T, Xu P, et al. The omics discovery REST interface. Nucleic Acids Res. doi:10.1093/nar/gkaa326