ArticleNetherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation2017
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.
Article in Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 19 citations in OpenAlex.
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- Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant ofFrontiers in cardiovascular medicine · 2022Article
- Case series, chemotherapy-induced cardiomyopathy: mind the family history!European heart journal. Case reports · 2021Article
- Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.Circulation. Genomic and precision medicine · 2021Article
- Fetal Echocardiography is Useful for Screening Fetuses with a Family History of Cardiomyopathy.Pediatric cardiology · 2020Article
- Circadian modulation of the cardiac proteome underpins differential adaptation to morning and evening exercise training: an LC-MS/MS analysis.Pflugers Archiv : European journal of physiology · 2020Article
- A rare case of familial restrictive cardiomyopathy, with mutations in MYH7 and ABCC9 genes.Discoveries (Craiova, Romania) · 2019Article
- Congenital myopathies are mainly associated with a mild cardiac phenotype.Journal of neurology · 2019Article
- Fetal Noncompaction Cardiomyopathy and Histologic Diagnosis of Spongy Myocardium: Case Report and Review of the Literature.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2018Review
- The contribution of mutations in MYH7 to the onset of cardiomyopathy.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2017Article
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18 authors at 6 institutions in 1 country.
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Abstract
backgroundMutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects.
methodsIn this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p. (Asn1918Lys), present in 15 probands and 65 family members.
resultsOf 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.
conclusionClinically, 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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