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01-09-2017 | Original Article | Uitgave 12/2017 Open Access

Netherlands Heart Journal 12/2017

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects

Netherlands Heart Journal > Uitgave 12/2017
I. H. M. van der Linde, Y. L. Hiemstra, R. Bökenkamp, A. M. van Mil, M. H. Breuning, C. Ruivenkamp, S. W. ten Broeke, R. F. Veldkamp, J. I. van Waning, M. A. van Slegtenhorst, K. Y. van Spaendonck-Zwarts, R. H. Lekanne Deprez, J. C. Herkert, L. Boven, P. A. van der Zwaag, J. D. H. Jongbloed, M. Bootsma, D. Q. C. M. Barge-Schaapveld
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The online version of this article (https://​doi.​org/​10.​1007/​s12471-017-1037-5) contains supplementary material, which is available to authorized users.



Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects.


In this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p. (Asn1918Lys), present in 15 probands and 65 family members.


Of the 80 carriers (age range 0–88 years), 46 (57.5%) had cardiomyopathy (mainly dilated cardiomyopathy (DCM)) and seven (8.8%) had a congenital heart defect. Childhood onset of cardiomyopathy was present in almost 10% of carriers. However, in only a slight majority (53.7%) was the left ventricular ejection fraction reduced and almost no arrhythmias or conduction disorders were noted. Moreover, only one carrier required heart transplantation and nine (11.3%) an implantable cardioverter defibrillator. In addition, the standardised mortality ratio for MYH7 carriers was not significantly increased. Whole exome sequencing in several cases with paediatric onset of DCM and one with isolated congenital heart defects did not reveal additional known disease-causing variants. Haplotype analysis suggests that the MYH7 variant is a founder mutation, and is therefore the first Dutch founder mutation identified in the MYH7 gene. The mutation appears to have originated in the western region of the province of South Holland between 500 and 900 years ago.


Clinically, the p. (Asn1918Lys) mutation is associated with congenital heart defects and/or cardiomyopathy at young age but with a relatively benign course.

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Het Netherlands Heart Journal wordt uitgegeven in samenwerking met de Nederlandse Vereniging voor Cardiologie en de Nederlandse Hartstichting. Het tijdschrift is Engelstalig en wordt gratis beschikbaa ...

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