2008
DOI: 10.1111/j.1747-0803.2008.00165.x
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A de novo Mutation of the Beta Cardiac Myosin Heavy Chain Gene in an Infantile Restrictive Cardiomyopathy

Abstract: Here we report the first pediatric case of restrictive cardiomyopathy secondary to a de novo mutation in the cardiac myosin heavy chain gene MYH7. The clinical course is characterized by an early onset of disease, mild hypertrophy of the left ventricle and a very short evolution to death. Because of the location of the mutation in the hinge region between the rod part and the globular head of the myosin molecule, it is possible that restrictive cardiomyopathy resulted from an impairment of flexion/extension of… Show more

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Cited by 44 publications
(31 citation statements)
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“…Moreover, mutations in the same gene can cause different cardiomyopathies. For example, mutations in the MYH7 gene have been associated with HCM (Geisterfer-Lowrance et al 1990), DCM (Kamisago et al 2000), LVNC (Hoedemaekers et al 2007;Vermeer et al 2013), and RCM (Karam et al 2008). These observations raise the question of how distinctive the cardiomyopathies really are, and how the phenotypical differences and commonalities can be reconciled at a mechanistic level.…”
Section: Overlapping Phenotypes Overlapping Genesmentioning
confidence: 99%
“…Moreover, mutations in the same gene can cause different cardiomyopathies. For example, mutations in the MYH7 gene have been associated with HCM (Geisterfer-Lowrance et al 1990), DCM (Kamisago et al 2000), LVNC (Hoedemaekers et al 2007;Vermeer et al 2013), and RCM (Karam et al 2008). These observations raise the question of how distinctive the cardiomyopathies really are, and how the phenotypical differences and commonalities can be reconciled at a mechanistic level.…”
Section: Overlapping Phenotypes Overlapping Genesmentioning
confidence: 99%
“…Differential effects of mutations on sarcomeric properties such as myofilament sliding, Ca 2ϩ sensitivity, or ATPase activity have emerged as a mechanism underlying those phenotypes (8,9). Recent studies have shown that RCM is part of the spectrum of sarcomeric gene mutations, including pediatric RCM (7,(35)(36)(37)(38)(39)(40). In the largest series of pediatric RCM reported to date, mutation screening of eight sarcomeric genes and desmin suggested a predominant role of mutations in TNNI3, TNNT2, and ACTC in disease pathogenesis (7).…”
Section: Discussionmentioning
confidence: 99%
“…RCM constitute nearly 5% of total pediatric cases among different types of cardiomyopathies. 29 Due to progression in molecular techniques, mutations in all eight sarcomeric genes are now recognized to be linked with RCM, but the pathophysiological mechanism leading to the final disease phenotype is still unknown. The two utmost implicated genes in this rare cardiomyopathy are TNNI3 and MYH7 genes.…”
Section: Discussionmentioning
confidence: 99%