The implantable cardioverter defibrillator (ICD) is often considered a routine intervention for an inherited heart rhythm disorder (IHRD) despite there being little to no randomized data for non-ischemic indications. Furthermore, existing IHRD studies often do not report adverse ICD outcomes, and observational data increasingly show that complications are under-recognized. Only recently have tools emerged to address the rational use of ICDs for specific forms of IHRD, although the acceptable risk of device complications remains unestablished. Here, we summarize the evidence of ICD benefit and harm in IHRD, highlight current knowledge gaps, and propose alternative and adjunctive options to the transvenous ICD.
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http://dx.doi.org/10.1016/j.tcm.2019.10.004 | DOI Listing |
Rev Cardiovasc Med
January 2025
Department of Cardiology, The First Affiliated Hospital of Sun Yat-Sen University, 510080 Guangzhou, Guangdong, China.
Inherited cardiac arrhythmias, which may lead to sudden cardiac death, represent a significant health risk, with genetic factors playing a key role in their development. The ankyrin 2 () gene, encoding ankyrin-B, is implicated in several heritable arrhythmia syndromes. variants have been linked to an inherited condition known as "ankyrin-B syndrome", which manifests as a spectrum of cardiac arrhythmias and cardiomyopathy.
View Article and Find Full Text PDFAME Case Rep
November 2024
Guangxi Academy of Medical Sciences, Nanning, China.
Background: Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by fibrofatty replacement of ventricular myocardium. Ventricular arrhythmia and sudden cardiac death (SCD) are the main clinical manifestations. ACM was previously called arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D).
View Article and Find Full Text PDFStroke
January 2025
Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany (M.F., S.B., S.M., K.W., M.E., A.M., U.D., C.S.).
Background: Contrary to the common belief, the most commonly used laboratory C57BL/6J mouse inbred strain presents a distinctive genetic and phenotypic variability, and for several traits, the genotype-phenotype link remains still unknown. Recently, we characterized the most important stroke survival factor such as brain collateral plasticity in 2 brain ischemia C57BL/6J mouse models (bilateral common carotid artery stenosis and middle cerebral artery occlusion) and observed a Mendelian-like fashion of inheritance of the posterior communicating artery (PcomA) patency. Interestingly, a copy number variant (CNV) spanning locus was reported to segregate in an analogous Mendelian-like pattern in the C57BL/6J colonies of the Jackson Laboratory.
View Article and Find Full Text PDFBiomedicines
December 2024
Clinical and Rehabilitation Cardiology Division, San Filippo Neri Hospital, 00135 Rome, Italy.
Brugada syndrome (BrS) is an inherited arrhythmogenic disorder characterized by distinct electrocardiographic patterns and an increased risk of sudden cardiac death due to ventricular arrhythmias. Effective management of BrS is essential, particularly for high-risk patients with recurrent arrhythmias. While implantable cardioverter-defibrillator (ICD) is effective in terminating life-threatening arrhythmias, it does not prevent arrhythmia onset and can lead to complications such as inappropriate shocks.
View Article and Find Full Text PDFCurr Issues Mol Biol
January 2025
Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), University "Gabriele d'Annunzio" of Chieti-Pescara, 66100 Chieti, Italy.
Background: Anorectal malformations (ARMs) are a common pediatric surgical problem with an incidence of 1:1500 to 1:5000 live births. The phenotypical spectrum extends from anal stenosis to imperforate anus with or without anal fistula to persistent cloaca. They can manifest as either non-syndromic or syndromic conditions.
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