The Cardiac Phenotype in Patients With a CHD7 Mutation

N Corsten-Janssen, WS Kerstjens-Frederikse, GJ du Marchie Sarvaas, ME Baardman, MK Bakker, JEH Bergman, HD Hove, KR Heimdal, CF Rustad, RCM Hennekam, Robert Hofstra, LH Hoefsloot, CMA van Ravenswaaij-Arts, L Kapusta

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Background- Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations including heart defects. Heart defects are reported in 70% to 92% of patients with a CHD7 mutation, but most studies are small and do not provide a detailed classification of the defects. We present the first, detailed, descriptive study on the cardiac phenotype of 299 patients with a CHD7 mutation and discuss the role of CHD7 in cardiac development. Methods and Results- We collected information on congenital heart defects in 299 patients with a pathogenic CHD7 mutation, of whom 220 (74%) had a congenital heart defect. Detailed information on the heart defects was available for 202 of these patients. We classified the heart defects based on embryonic cardiac development and compared the distribution to 1007 equally classified nonsyndromic heart defects of patients registered by EUROCAT, a European Registry of Congenital Anomalies. Heart defe Conclusions- CHD7 plays an important role in cardiac development, given that we found a wide range of heart defects in 74% of a large cohort of patients with a CHD7 mutation. Conotruncal defects and atrioventricular septal defects are over-represented in patients with CHD7 mutations compared with patients with nonsyndromic heart defects.
Original languageUndefined/Unknown
Pages (from-to)248-254
Number of pages7
JournalCirculation-cardiovascular genetics
Issue number3
Publication statusPublished - 2013

Research programs

  • EMC MGC-02-96-01

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