A novel human T17N-phospholamban variation in idiopathic dilated cardiomyopathy

Mollanoori, Hasan; Naderi, Nasim; Amin, Ahmad; Hassani, Bita; Shahraki, Hojat; Teimourian, Shahram

doi:10.1016/j.genrep.2018.06.014

Cited by 3 publications

(2 citation statements)

References 27 publications

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“…There is, however, a dearth of information on the genetics of DCM in Iranian patients. Previous investigations have demonstrated associations between DCM and δSG [ 57 ] , LMNA [ 58 ] , FLNC [ 59 ] , desmoplakin (DSP) [ 60 ], MYBPC3 , troponin T type 2 ( TNNT2 ), myosin heavy polypeptide 7 ( MYH7 ) [ 61 ], and PLN [ 62 ] . The finding of a mutation in the RBM20 gene in the present study, along with other studies, in Iranian patients highlights the genetic heterogeneity and wide spectrum of mutations in Iranians and underscores the need for further comprehensive studies.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2022

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Introduction Dilated cardiomyopathy (DCM) is characterized by the dilation and impaired contraction of 1 or both ventricles and can be caused by a variety of disorders. Up to 50% of idiopathic DCM cases have heritable familial diseases, and the clinical screening of family members is recommended. Identifying a genetic cause that can explain the DCM risk in the family can help with better screening planning and clinical decision-making. Whole-exome sequencing (WES) has aided significantly in the detection of causative genes in many genetically heterogeneous diseases. In the present study, we applied WES to identify the causative genetic variant in a family with heritable DCM. Methods WES was applied to identify genetic variants on a 26-year-old man as the proband of a family with DCM. Subsequently, Sanger sequencing was performed to confirm the variant in the patient and all the available affected and unaffected family members. The pathogenicity of the variant was evaluated through co-segregation analysis in the family and employment of in silico predictive software. Results WES demonstrated the missense pathogenic heterozygous nucleotide variant, c.1907G > A, (p.Arg636His, rs267607004, NM_0011343), in exon 9 of the RBM20 gene in the proband. The variant was co-segregated in all the affected family members in a heterozygous form and the unaffected family members. The in silico analysis confirmed the variant as pathogenic. Conclusion Pathogenic RBM20 nucleotide variants are associated with arrhythmogenic DCM. We believe that our report is the first to show an RBM20 variant in Iranian descent associated with DCM.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2022

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“…A growing number of biometric analyses and high-throughput platform studies suggest that DCM may have one or more possible genetic mutations, such as TNN, which is more clearly associated with familial DCM, and LMNA, which predisposes to AVB and also to Limb-Girdle myopathy [ 1 , 12 ]. Circulating Ca 2+ protein imbalance leads to the development of IDCM, the incidence of which depends on the species [ 13 , 14 ]. The main molecular mechanisms in the pathogenesis of DCM are increased circulating and tissue levels of norepinephrine, aldosterone, endothelin, vasopressin and cytokines, which lead to structural changes in cardiomyocytes and the extracellular matrix, ultimately leading to myocardial cell necrosis and fibrosis [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

Double Gain: The Radio Frequency Catheter Ablation of Ventricular Aneurysm Related Recurrent Ventricular Tachycardia on a Tremendous Cardiac Outpouching

Jiang

Huang

et al. 2022

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Dilated cardiomyopathy (DCM) is a classic type of non-ischemic cardiomyopathy. Of these, idiopathic cardiomyopathy (IDCM) is a rare type of non-genetic dilated cardiomyopathy. More specifically, the patient had suspected IDCM combined with sustained polymorphic ventricular tachycardia (PMVT) of left ventricular basal segmental origin, cardiac systolic dysfunction and an ejection fraction (EF) of 29%. He had an abnormally large ventricular aneurysm (VA) in the posterior wall of the left ventricle with left ventricular end diastolic dimension (LVDd) of 90 mm. We performed an endocardial radiofrequency catheter ablation (RFCA) of the patient’s recurrent ventricular tachycardia (VT) on the basis of an implantable cardioverter (ICD). Although minimally invasive RFCA also carries a high risk, it is currently a two-pronged option to improve the patient’s quality of life and to prevent the recurrence of VT. Postoperatively, the patient was routinely given optimal anti-arrhythmic and heart failure (HF) treatments to improve cardiac function as well as being followed up for 9 months. The patient’s EF ascended to 36% without any recurrence of VT. In summary, RFCA of suspected IDCM combined with VA and VT of basal area origin would be an effective treatment.

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Screening the underlying molecular mechanisms involved in the development of heart failure

et al. 2020

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A novel human T17N-phospholamban variation in idiopathic dilated cardiomyopathy

Cited by 3 publications

References 27 publications

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

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

Double Gain: The Radio Frequency Catheter Ablation of Ventricular Aneurysm Related Recurrent Ventricular Tachycardia on a Tremendous Cardiac Outpouching

Screening the underlying molecular mechanisms involved in the development of heart failure

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