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Gene Mutations dilated Cardiomyopathy

Comprehensive review on gene mutations contributing to dilated cardiomyopathy



Dilated cardiomyopathy (DCM) is one of the most common primary myocardial diseases. However, to this day, it remains an enigmatic cardiovascular disease (CVD) characterized by ventricular dilatation, which leads to myocardial contractile dysfunction. It is the most common cause of chronic congestive heart failure and the most frequent indication for heart transplantation in young individuals. Genetics and various other factors play significant roles in the progression of dilated cardiomyopathy, and variants in more than 50 genes have been associated with the disease. However, the etiology of a large number of cases remains elusive. Numerous studies have been conducted on the genetic causes of dilated cardiomyopathy.

These genetic studies suggest that mutations in genes for fibronectin, cytoskeletal proteins, and myosin in cardiomyocytes play a key role in the development of DCM. In this review, we provide a comprehensive description of the genetic basis, mechanisms, and research advances in genes that have been strongly associated with DCM based on evidence-based medicine. We also emphasize the important role of gene sequencing in therapy for potential early diagnosis and improved clinical management of DCM.

Clinical manifestation

Symptoms of DCM, such as dyspnea, fatigue, dizziness, syncope, and edema, may intermittently manifest in some patients during the early stages of DCM. However, these symptoms become more pronounced as the disease progresses to its severe stage (25). Uncommon yet significant signs and symptoms like abnormal skin pigmentation, skeletal myopathy, and neurosensory disorders (e.g., deafness, blindness) may indicate a specific form of multisystem disease or a unique DCM genotype. These symptoms are considered “red flags” for DCM diagnosis (26).

Conclusion

This review systematically summarizes the genes and mechanisms implicated in dilated cardiomyopathy, as well as the latest research directions in understanding its causes. It should be noted that with the advancement of medical technology, the diagnosis rate of dilated cardiomyopathy has been increasing. Nonetheless, patients often present with early onset, severe clinical manifestations, and poor prognosis. The standard approach for preventing or treating heart failure is currently the first-line treatment for patients with dilated cardiomyopathy. Cardiac resynchronization therapy and implantable cardioverter-defibrillators may be necessary to prevent life-threatening arrhythmias. It is recommended that all patients with dilated cardiomyopathy undergo sequencing of known cardiomyopathy genes. Gene-level therapy may represent a new approach for future treatments, although our current understanding of disease pathogenesis and gene therapy is primarily derived from preclinical animal models. This review also has some limitations, primarily that it only encompasses genes with substantial supporting evidence within the realm of evidence-based medicine. Due to the constraints of the review's length, there is a limited number of genes currently being researched and a lack of supporting experimental data. Consequently, some genes pertinent to “moderate classification” and “limited classification” have not been included in this review. Further research in this area is warranted.

Gene mutations in dilated cardiomyopathy (DCM) play a critical role in its pathogenesis, highlighting keywords like MYH7, TTN, LMNA, TNNT2, DSP, RBM20, SCN5A, ACTC1, PLN, TPM1, TNNI3, MYBPC3, BAG3, DES, CRYAB, LDB3, JPH2, GATA4, NKX2-5, ZASP, showcasing genetic and molecular insights into this cardiac condition

#DilatedCardiomyopathy, #GeneMutations, #CardiomyopathyResearch, #MYH7, #TTN, #LMNA, #TNNT2, #RBM20, #CardiacHealth, #HeartDisease, #DCMGenetics, #MedicalGenetics, #InheritedDisorders, #Cardiology, #GenomicResearch, #RareDiseases, #HeartFailure, #PrecisionMedicine, #CardiacGenes, #GeneticTesting

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