Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

Malakootian, Mahshid; Moghaddam, Mahrokh Bagheri; Kalayinia, Samira; Farrashi, Melody; Maleki, Majid; Sadeghipour, Parham; Amin, Ahmad

doi:10.1186/s12920-022-01262-4

Cited by 7 publications

(5 citation statements)

References 59 publications

(62 reference statements)

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“…As DCM has been demonstrated to be one of the most common hereditary cardiomyopathies, genetic analysis of mutations for DCM became essential to determine the pathogenesis of the disease[ 13 ]. Our patient did not participate in the genetic test for cardiomyopathies because she had no family history related to cardiovascular disease and her medical history of myocarditis was apparent.…”

Section: Discussionmentioning

confidence: 99%

Development of dilated cardiomyopathy with a long latent period followed by viral fulminant myocarditis: A case report

Lee¹,

Kim²,

Kang³

et al. 2022

World J Clin Cases

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BACKGROUND The clinical course of acute myocarditis ranges from the occurrence of a few symptoms to the development of fatal fulminant myocarditis. Specifically, fulminant myocarditis causes clinical deterioration very rapidly and aggressively. The long-term prognosis of myocarditis is varied, and it fully recovers without leaving any special complications. However, even after recovery, heart failure may occur and eventually progress to dilated cardiomyopathy (DCM), which causes serious left ventricular dysfunction. In the case of follow-up observation, no clear guidelines have been established. CASE SUMMARY We report the case of a 21-year-old woman who presented with dyspnea. She became hemodynamically unstable and showed sustained fatal arrhythmias with decreased heart function. She was clinically diagnosed with fulminant myocarditis based on her echocardiogram and cardiac magnetic resonance results. After 2 d, she was readmitted to the emergency department under cardiopulmonary resuscitation and received mechanical ventilation and extracorporeal membrane oxygenation. An implantable cardioverter defibrillator was inserted for secondary prevention. She recovered and was discharged. Prior to being hospitalized for sudden cardiac function decline and arrhythmia, she had been well for 7 years without any complications. She was finally diagnosed with dilated cardiomyopathy. CONCLUSION DCM may develop unexpectedly in patients who have been cured of acute fulminant myocarditis and have been stable with a long period of remission. Therefore, they should be carefully and regularly observed clinically throughout long-term follow-up.

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Section: Discussionmentioning

confidence: 99%

Development of dilated cardiomyopathy with a long latent period followed by viral fulminant myocarditis: A case report

Lee¹,

Kim²,

Kang³

et al. 2022

World J Clin Cases

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“…While most of the top RBP DEGs have not been previously implicated in RV disease, RBM20 was a top downregulated DEG that has been reported to have a link to RV disease, in addition to its well-described role in DCM of the LV discussed above (Figure 5). Specifically, Malakootian et al [88] performed whole-exome sequencing to identify a pathogenic variant in RBM20 in a family with heritable DCM. Cardiac magnetic resonance imaging of one of the affected family members revealed an enlarged right ventricle with reduced right ventricular function.…”

Section: Right Ventricular Diseasementioning

confidence: 99%

Functions of RNA-Binding Proteins in Cardiovascular Disease

Ruffenach,

Medzikovic,

Sun

et al. 2023

Cells

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Gene expression is under tight regulation from the chromatin structure that regulates gene accessibility by the transcription machinery to protein degradation. At the transcript level, this regulation falls on RNA-binding proteins (RBPs). RBPs are a large and diverse class of proteins involved in all aspects of a transcript’s lifecycle: splicing and maturation, localization, stability, and translation. In the past few years, our understanding of the role of RBPs in cardiovascular diseases has expanded. Here, we discuss the general structure and function of RBPs and the latest discoveries of their role in pulmonary and systemic cardiovascular diseases.

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“…The 2019 diagnostic criteria for ALVC placed significant emphasis on assessing electrocardiographic, structural, and functional changes associated with LV involvement. However, genetic testing utilizing advanced techniques such as next-generation sequencing (NGS) is required for diagnostic confirmation [ 5 – 8 ]. Most mutations that result in ACM affect genes that encode structural proteins involved in the construction of intercellular junctions, especially desmosomal proteins.…”

Section: Introductionmentioning

confidence: 99%

Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death

Azimi,

Pourirahim,

Houshmand

et al. 2023

BMC Med Genomics

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Objective We conducted an investigation into the clinical and molecular characteristics of Arrhythmogenic left ventricular cardiomyopathy (ALVC) caused by a novel likely pathogenic mutation in an Iranian pedigree with sudden cardiac death (SCD). Background ALVC is a genetically inherited myocardial disease characterized by the substitution of fibro-fatty tissue in the left ventricular myocardium, predominantly inherited in an autosomal dominant pattern and is commonly associated with genes involved in encoding desmosomal proteins, specifically Desmoplakin (DSP). Methods The patient and available family members underwent a comprehensive clinical assessment, including Cardiac magnetic resonance (CMR) imaging, along with Whole-exome sequencing (WES). The identified variant was confirmed and segregated by Polymerase chain reaction (PCR) and Sanger sequencing in the family members. Results A novel likely pathogenic heterozygous variant, DSP (NM_004415.4), c.3492_3498del, p.K1165Rfs*8 was discovered in the proband. This variant is likely to be the primary reason for ALVC in this specific family. This variant was confirmed by Sanger sequencing and segregated in other affected members of the family. Conclusion We identified a novel likely pathogenic variant in the DSP gene, which has been identified as the cause of ALVC in an Iranian family. Our investigation underscores the importance of genetic testing, specifically WES, for individuals suspected of ALVC and have a family history of SCD.

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Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

Cited by 7 publications

References 59 publications

Development of dilated cardiomyopathy with a long latent period followed by viral fulminant myocarditis: A case report

Development of dilated cardiomyopathy with a long latent period followed by viral fulminant myocarditis: A case report

Functions of RNA-Binding Proteins in Cardiovascular Disease

Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death

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