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Hellenic Journal of Cardiology : HJC =... 2023Paediatric cardiomyopathies form a heterogeneous group of disorders characterized by structural and electrical abnormalities of the heart muscle, commonly due to a gene... (Review)
Review
Paediatric cardiomyopathies form a heterogeneous group of disorders characterized by structural and electrical abnormalities of the heart muscle, commonly due to a gene variant of the myocardial cell structure. Mostly inherited as a dominant or occasionally recessive trait, they might be part of a syndromic disorder of underlying metabolic or neuromuscular defects or combine early developing extracardiac abnormalities (i.e., Naxos disease). The annual incidence of 1 per 100,000 children appears higher during the first two years of life. Dilated and hypertrophic cardiomyopathy phenotypes share an incidence of 60% and 25%, respectively. Arrhythmogenic right ventricular cardiomyopathy (ARVC), restrictive cardiomyopathy, and left ventricular noncompaction are less commonly diagnosed. Adverse events such as severe heart failure, heart transplantation, or death usually appear early after the initial presentation. In ARVC patients, high-intensity aerobic exercise has been associated with worse clinical outcomes and increased penetrance in at-risk genotype-positive relatives. Acute myocarditis in children has an incidence of 1.4-2.1 cases/per 100,000 children per year, with a 6-14% mortality rate during the acute phase. A genetic defect is considered responsible for the progression to dilated cardiomyopathy phenotype. Similarly, a dilated or arrhythmogenic cardiomyopathy phenotype might emerge with an episode of acute myocarditis in childhood or adolescence. This review provides an overview of childhood cardiomyopathies focusing on clinical presentation, outcome, and pathology.
Topics: Adolescent; Humans; Child; Myocarditis; Cardiomyopathies; Myocardium; Arrhythmogenic Right Ventricular Dysplasia; Phenotype
PubMed: 36870438
DOI: 10.1016/j.hjc.2023.02.007 -
Current Cardiology Reports Oct 2023This article aims to review the accurate classification of non-ischemic cardiomyopathy, including the methods, basis, subtype characteristics, and prognosis, especially... (Review)
Review
PURPOSE OF REVIEW
This article aims to review the accurate classification of non-ischemic cardiomyopathy, including the methods, basis, subtype characteristics, and prognosis, especially the similarities and differences between different classifications.
RECENT FINDINGS
Non-ischemic cardiomyopathy refers to a myocardial disease that excludes coronary artery disease or ischemic injury and has a variety of etiologies and high incidence. Recent studies suggest that traditional classification methods based on primary/mixed/acquired or genetic/non-genetic cannot meet the precise needs of contemporary clinical management. This article systematically describes the history of classifications of cardiomyopathy and presents etiological and genetic differences between cardiomyopathies. The accurate classification is described from the perspective of morphology, function, and genomics in hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and partially acquired cardiomyopathy. The different clinical characteristics and treatment needs of these cardiomyopathies are elaborated. Some single-gene mutant cardiomyopathies have unique phenotypes, and some cardiomyopathies have mixed phenotypes. These special classifications require personalized precision treatment, which is worthy of independent research. This article describes recent advances in the accurate classification of non-ischemic cardiomyopathy from clinical phenotypes and causative genes, discusses the advantages and usage scenarios of each classification, compares the differences in prognosis and patient management needs of different subtypes, and summarizes common methods and new exploration directions for accurate classification.
Topics: Humans; Cardiomyopathies; Cardiomyopathy, Hypertrophic; Cardiomyopathy, Dilated; Cardiomyopathy, Restrictive; Phenotype
PubMed: 37721634
DOI: 10.1007/s11886-023-01944-0 -
BMC Medical Genomics Oct 2023Cardiomyopathy, which is a genetically and phenotypically heterogeneous pathological condition, is associated with increased morbidity and mortality. Genetic diagnosis...
BACKGROUND
Cardiomyopathy, which is a genetically and phenotypically heterogeneous pathological condition, is associated with increased morbidity and mortality. Genetic diagnosis of cardiomyopathy enables accurate phenotypic classification and optimum patient management and counseling. This study investigated the genetic spectrum of cardiomyopathy and its correlation with the clinical course of the disease.
METHODS
The samples of 72 Korean patients with cardiomyopathy (43 males and 29 females) were subjected to whole-exome sequencing (WES). The familial information and clinical characteristics of the patients were reviewed and analyzed according to their genotypes.
RESULTS
Dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular non-compaction cardiomyopathy, and restrictive cardiomyopathy was detected in 41 (56.9%), 25 (34.7%), 4 (5.6%), and 2 (2.8%) patients, respectively. WES analysis revealed positive results in 37 (51.4%) patients. Subsequent familial testing identified ten additional familial cases. Among DCM cases, 19 (46.3%) patients exhibited positive results, with TTN variants being the most common alteration, followed by LMNA and MYH7 variants. Meanwhile, among HCM cases, 15 (60%) patients exhibited positive results with MYH7 variants being the most common alteration. In six patients with positive results, extracardiac surveillance was warranted based on disease information. The incidence of worse outcomes, such as mortality and life-threatening arrhythmic events, in patients with DCM harboring LMNA variants, was higher than that in patients with DCM harboring TTN or MYH7 variants.
CONCLUSIONS
Diverse genotypes were identified in a substantial proportion of patients with cardiomyopathy. Genetic diagnosis enables personalized disease surveillance and management.
Topics: Male; Female; Humans; Genetic Heterogeneity; Cardiomyopathies; Cardiomyopathy, Dilated; Cardiomyopathy, Hypertrophic; Patient Care
PubMed: 37904158
DOI: 10.1186/s12920-023-01639-z -
Frontiers in Cardiovascular Medicine 2023Amyloid light-chain (AL) amyloidosis is a hematological disorder characterized by abnormal proliferation of a plasma cell clone producing monoclonal free light chains... (Review)
Review
Amyloid light-chain (AL) amyloidosis is a hematological disorder characterized by abnormal proliferation of a plasma cell clone producing monoclonal free light chains that misfold and aggregate into insoluble fibrils in various tissues. Cardiac involvement is a common feature leading to restrictive cardiomyopathy and poor prognosis. Current first-line treatments aim at achieving hematological response by targeting the plasma cell clones, and these have been adapted from multiple myeloma therapy. Patients with AL amyloidosis often exhibit multiorgan involvement, making them susceptible to cancer therapy-related cardiovascular toxicity. Managing AL amyloidosis is a complex issue that requires enhanced knowledge of the cardio-oncological implications of hematological treatments. Future research should focus on implementing and validating primary and secondary prevention strategies and understanding the biochemical basis of oncological therapy-related damage to mitigate cardiovascular toxicity.
PubMed: 37476571
DOI: 10.3389/fcvm.2023.1212983