ArticlePloS one2007
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.
Article in PloS one, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 132 citations in OpenAlex.
- Delayed Diagnosis of Congenital Heart Diseases in Adults: Opportunities for Improving Diagnostic Strategies.Journal of cardiovascular development and disease · 2026Review
- Dilated Cardiomyopathy: A Genetic Journey from Past to Future.International journal of molecular sciences · 2024Review
- Altered contractility, CaAmerican journal of physiology. Heart and circulatory physiology · 2023Article
- A Systematic Review of Ebstein's Anomaly with Left Ventricular Noncompaction.Journal of cardiovascular development and disease · 2022Review
- Genetic resiliency associated with dominant lethalCell reports. Medicine · 2022Article
- Narrative review of Ebstein's anomaly beyond childhood: Imaging, surgery, and future perspectives.Cardiovascular diagnosis and therapy · 2021Review
- Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.Translational pediatrics · 2021Review
- Ebstein's Anomaly, Left Ventricular Noncompaction and Gerbode-Like Defect Triad (Fetal Diagnosis and Neonatal Course).Case reports in pediatrics · 2021Article
- Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction.Molecular genetics & genomic medicine · 2020Article
- Defective sarcomere organization and reduced larval locomotion and fish survival in slow muscle heavy chain 1 (smyhc1) mutants.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
- A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2017Article
- Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.Journal of molecular and cellular cardiology · 2017Article
- Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors.Nature reviews. Cardiology · 2017Review
- Copy number variants in Ebstein anomaly.PloS one · 2017Article
- Cardiac troponin T is necessary for normal development in the embryonic chick heart.Journal of anatomy · 2016Article
- Genetics of Cardiac Developmental Disorders: Cardiomyocyte Proliferation and Growth and Relevance to Heart Failure.Annual review of pathology · 2016Review
- The pathogenicity of genetic variants previously associated with left ventricular non-compaction.Molecular genetics & genomic medicine · 2016Article
- Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.PloS one · 2016Article
- Molecular genetics and pathogenesis of cardiomyopathy.Journal of human genetics · 2016Review
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Noncompaction of the ventricular myocardium (NVM) is the morphological hallmark of a rare familial or sporadic unclassified heart disease of heterogeneous origin. NVM results presumably from a congenital developmental error and has been traced back to single point mutations in various genes. The objective of this study was to determine the underlying genetic defect in a large German family suffering from NVM. Twenty four family members were clinically assessed using advanced imaging techniques. For molecular characterization, a genome-wide linkage analysis was undertaken and the disease locus was mapped to chromosome 14ptel-14q12. Subsequently, two genes of the disease interval, MYH6 and MYH7 (encoding the alpha- and beta-myosin heavy chain, respectively) were sequenced, leading to the identification of a previously unknown de novo missense mutation, c.842G>C, in the gene MYH7. The mutation affects a highly conserved amino acid in the myosin subfragment-1 (R281T). In silico simulations suggest that the mutation R281T prevents the formation of a salt bridge between residues R281 and D325, thereby destabilizing the myosin head. The mutation was exclusively present in morphologically affected family members. A few members of the family displayed NVM in combination with other heart defects, such as dislocation of the tricuspid valve (Ebstein's anomaly, EA) and atrial septal defect (ASD). A high degree of clinical variability was observed, ranging from the absence of symptoms in childhood to cardiac death in the third decade of life. The data presented in this report provide first evidence that a mutation in a sarcomeric protein can cause noncompaction of the ventricular myocardium.
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