Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report

Park, Joonhong; Lee, Jongmin; Cho, Jung Sun

doi:10.3390/medicina57030281

Cited by 2 publications

(4 citation statements)

References 27 publications

(37 reference statements)

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“…This further implies the possible impact of different unknown factors in the development of HCM [ 82 ]. In addition to HCM, identical MYBPC3 mutations can lead to left ventricular noncompaction and to restrictive or dilated cardiomyopathy [ 83 ]. MYBPC3 mutations were the second most commonly reported disease-causing mutations in a multi-center and multi-national study conducted in Europe that enrolled a cohort of 639 patients with sporadic or familial dilated cardiomyopathy [ 78 ].…”

Section: From Genetics To Clinical Implicationsmentioning

confidence: 99%

An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy

Tudurachi,

Zăvoi,

Leonte

et al. 2023

IJMS

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Hypertrophic cardiomyopathy (HCM) is the most prevalent genetically inherited cardiomyopathy that follows an autosomal dominant inheritance pattern. The majority of HCM cases can be attributed to mutation of the MYBPC3 gene, which encodes cMyBP-C, a crucial structural protein of the cardiac muscle. The manifestation of HCM’s morphological, histological, and clinical symptoms is subject to the complex interplay of various determinants, including genetic mutation and environmental factors. Approximately half of MYBPC3 mutations give rise to truncated protein products, while the remaining mutations cause insertion/deletion, frameshift, or missense mutations of single amino acids. In addition, the onset of HCM may be attributed to disturbances in the protein and transcript quality control systems, namely, the ubiquitin–proteasome system and nonsense-mediated RNA dysfunctions. The aforementioned genetic modifications, which appear to be associated with unfavorable lifelong outcomes and are largely influenced by the type of mutation, exhibit a unique array of clinical manifestations ranging from asymptomatic to arrhythmic syncope and even sudden cardiac death. Although the current understanding of the MYBPC3 mutation does not comprehensively explain the varied phenotypic manifestations witnessed in patients with HCM, patients with pathogenic MYBPC3 mutations can exhibit an array of clinical manifestations ranging from asymptomatic to advanced heart failure and sudden cardiac death, leading to a higher rate of adverse clinical outcomes. This review focuses on MYBPC3 mutation and its characteristics as a prognostic determinant for disease onset and related clinical consequences in HCM.

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Section: From Genetics To Clinical Implicationsmentioning

confidence: 99%

An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy

Tudurachi,

Zăvoi,

Leonte

et al. 2023

IJMS

View full text Add to dashboard Cite

show abstract

“…Approximately 30% of RCM cases have a family history of RCM considered as a primary disease of genetic origin, but only a few genes, such as cardiac troponin T (cTnT) and troponin I (cTnI), myosin-binding protein C (MYBPC), MYH7, myosin light chain-2 and 3 (MYL2, MYL3), desmin (DES), MYPN, titin (TTN), Bcl2-associated athanogene 3 (BAG3), discoidin, CUB and LCCL domain containing 2 (DCBLD2), lamin A/C (LMNA), and filamin C (FLNC) have been associated with familial RCM [87][88][89][90][91][92][93][94][95][96][97][98][99][100][101][102][103][104][105] (Table 2, Ref. [87,89,97,98,102,).…”

Section: Molecular Genetics Of Primary Rcmmentioning

confidence: 99%

“…For example, R145G and R145Q are linked to HCM while R145W is associated with RCM [136,137]. More recently, a frame-shift variant p.Ala1105Glyfs*85 in MYBPC3 has been associated to both RCM and HCM in a Korean family [105]. Proband displayed normal LV chamber size, borderline LV hypertrophy and severe biatrial enlargement, while his affected daughters had asymmetric septal hypertrophy of the LV consistent with HCM.…”

Section: Some Of the Examples Of Clinical Or Histopathological Change...mentioning

confidence: 99%

“…The frameshift mutation Ala1105Glyfs*85 was identified as the causative mutation of RCM in a 74-year-old Korean male with exertional dyspnea, palpitations, and pitting edema in the lower extremities. The patient's two children were diagnosed with HCM, speaking to the pleiotropic nature of this mutation and probable impact of modifier genes and environmental factors [105].…”

Section: Myosin-binding Protein Cmentioning

confidence: 99%

See 1 more Smart Citation

Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling

Chintanaphol¹,

Orgil²,

Alberson³

et al. 2022

Rev. Cardiovasc. Med.

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Restrictive cardiomyopathy (RCM), a potentially devastating heart muscle disorder, is characterized by diastolic dysfunction due to abnormal muscle relaxation and myocardial stiffness resulting in restrictive filling of the ventricles. Diastolic dysfunction is often accompanied by left atrial or bi-atrial enlargement and normal ventricular size and systolic function. RCM is the rarest form of cardiomyopathy, accounting for 2-5% of pediatric cardiomyopathy cases, however, survival rates have been reported to be 82%, 80%, and 68% at 1-, 2-, and 5-years after diagnosis, respectively. RCM can be idiopathic, familial, or secondary to a systemic disorder, such as amyloidosis, sarcoidosis, and hereditary hemochromatosis. Approximately 30% of cases are familial RCM, and the genes that have been linked to RCM are cTnT, cTnI, MyBP-C, MYH7, MYL2, MYL3, DES, MYPN, TTN, BAG3, DCBLD2, LNMA, and FLNC. Increased Ca 2+ sensitivity, sarcomere disruption, and protein aggregates are some of the few mechanisms of pathogenesis that have been revealed by studies utilizing cell lines and animal models. Additional exploration into the pathogenesis of RCM is necessary to create novel therapeutic strategies to reverse restrictive cardiomyopathic phenotypes.

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Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report

Cited by 2 publications

References 27 publications

An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy

An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy

Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling

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