Margot M. Bartelings MD PhD: Pathomorphology of human congenital heart disease

Margot M Bartelings MD PhD  margot bartelings


Expertise on the morphology of congenital heart disease (CHD) and the Leiden Collection of malformed specimens forms the nucleus of an international center of reference in this field. Affiliations with Gynaecology/Obstetrics, Paediatric Cardiology, Thoracic Surgery, Pathology, Cardiology, Clinical Genetics, Forensic Medicine departments provide specimen input and dissemination.

Specific activities include:

  • post-mortem diagnostics of the heart from fetus to adult
  • post-graduate courses, seminars and individual training in carduiac anatomy of medical specialist/fellows (see teaching)
  • consultancy for diagnostic and research questions concerning the morphology of CHD, thus sharing in several projects of the ECCARD group like bicuspid aortic valves and abnormal atrioventricular septation.

The group is linked with the group of Monique Jongbloed, which investigates cardiovascular development in animal models, providing a basis for translating basic research in animal models to humans.
Human myocardial pathology and the role of epicardium-derived cells (EPDCs) in human cardiac development and congenital heart disease  is investigated, In addition, developmental questions concerning CHD originating in the clinic are followed up in animal models with Monique Jongbloed, Marco de Ruiter and Robert Poelmann.

International courses and selected publications:


  • Weinstein 2010 Satellite Hands-on Course Morphology of Congenital Heart Disease, LUMC, Leiden 19 May 2010
  • Boerhaave Course Congenital Heart Disease, LUMC Leiden, 14-15 October 2010

Selected publications

Chockalingam P, Jaeggi ET, Rammeloo LA, Haak MC, Adama van Scheltema PN, Breur JM, Bartelings MM, Clur SA, Blom NA. Persistent Fetal Sinus Bradycardia Associated with Maternal Anti-SSA/Ro and Anti-SSB/La Antibodies. J Rheumatol. 2011 Dec;38(12):2682-5. Epub 2011 Nov 15

Jongbloed MR, Vicente-Steijn R, Douglas YL, Wisse LJ, Mori K, Yokota Y, Bartelings MM, Schalij MJ, Mahtab EA, Poelmann RE, Gittenberger-De Groot AC. Expression of Id2 in the second heart field and cardiac defects in Id2 knock-out mice. Dev Dyn. 2011 Nov;240(11):2561-77

de Mooij YM, Haak MC, Bartelings MM, Twisk JW, Gittenberger-de Groot A, van Vugt JM, Bekker MN. Abnormal ductus venosus flow in first-trimester fetuses with increased nuchal translucency: relationship with the type of cardiac defect? J Ultrasound Med. 2010 Jul;29(7):1051-8.

Jongbloed MR, Kelder TP, DEN Uijl DW, Bartelings MM, Molhoek SG, Tukkie R, Schalij MJ. Anatomical Perspective on Radiofrequency Ablation of AV Nodal Reentry Tachycardia after Mustard Correction for Transposition of the Great Arteries. Pacing Clin Electrophysiol. 2010 Oct 4. doi: 10.1111/j.1540-8159.2010.02928.x.

de Mooij YM, Bartelings MM, Twisk JW, Lamberts RR, Gittenberger-de Groot AC, van Vugt JM, Bekker MN. Altered jugular vein and ductus venosus flow velocities in fetuses with increased nuchal translucency and distended jugular lymphatic sacs. Am J Obstet Gynecol. 2010 Jun;202(6):566.e1-8.

Common arterial trunk with atrioventricular septal defect: New observations pertinent to repair. Iki Adachi, MD, Siew Yen Ho, PhD, FRCPath, FESC, Margot M. Bartelings, MD, PhD, Karen P McCarthy, BS, Anna Seale, MD, and Hideki Uemura, MD, FRCS The Ann of Thorac Surg 2009;87(5):1495-9

The Outflow Tract in Transposition of the Great Arteries: An Anatomic and Morphologic Study. Shirin Lalezari, MD, Edris A. F. Mahtab, PhD, Margot M. Bartelings, MD, PhD, Lambertus J. Wisse, BS, Mark G. Hazekamp, MD, PhD, and Adriana C. Gittenberger-de Groot, PhD. Ann Thorac Surg 2009;88:1300 –5

Abnormal Shh and FOXC2 expression correlates with aberrant lymphatic development in human fetuses with increased nuchal translucency. Yolanda M. de Mooij, Nynke M. S. van den Akker, Mireille N. Bekker, Margot M. Bartelings, Lambertus J. Wisse1, John M. G. van Vugt and Adriana C. Gittenberger-de Groot. Prenat Diagn 2009; 29: 840–846.

Douglas YL, Jongbloed MR, den Hartog WC, Bartelings MM, Bogers AJ, Ebels T, DeRuiter MC, Gittenberger-de Groot AC. Pulmonary vein and atrial wall pathology in human total anomalous pulmonary venous connection. Int J Cardiol. 2009 May 29;134(3):302-12.

Wessels MW, De Graaf BM, Cohen-Overbeek TE, Spitaels SE, de Groot-de Laat LE, Ten Cate FJ, Frohn-Mulder IF, de Krijger R, Bartelings MM, Essed N, Wladimiroff JW, Niermeijer MF, Heutink P, Oostra BA, Dooijes D, Bertoli-Avella AM, Willems PJ. A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.Hum Genet. 2008 Jan;122(6):595-603.