Cardiogenetics

903 KiB

Open AccessArticle

Arrhythmogenic Right Ventricular Cardiomyopathy: From Pathophysiology to Diagnosis and Advances in Management

by Rachel Bastiaenen, Marc W. Deyell and Andrew D. Krahn

Cardiogenetics 2017, 7(1), 6995; https://doi.org/10.4081/cardiogenetics.2017.6995 - 22 Dec 2017

Cited by 1 | Viewed by 967

Our understanding of arrhythmogenic right ventricular cardiomyopathy (ARVC) has advanced considerably over the past 30- 40 years. This is an inherited cardiomyopathy with complicated genetic inheritance and variable penetrance. Desmosomal dysfunction underlies most cases, and appreciating this pathophysiology has contributed to patient management, [...] Read more.

Our understanding of arrhythmogenic right ventricular cardiomyopathy (ARVC) has advanced considerably over the past 30- 40 years. This is an inherited cardiomyopathy with complicated genetic inheritance and variable penetrance. Desmosomal dysfunction underlies most cases, and appreciating this pathophysiology has contributed to patient management, particularly with respect to exercise restriction to reduce disease progression. The diagnosis is made according to a series of Task Force Criteria, and subsequent management is guided by expert consensus in the absence of comparative data. ARVC is associated with sudden cardiac death (SCD), particularly in young athletic individuals who unknowingly harbour the condition. Risk stratification is important to guide implantable cardioverter- defibrillator use and reduce SCD. Residual gaps in our understanding, particularly surrounding incomplete penetrance, the underlying pathophysiology and risk stratification, are being targeted by collaborative efforts, large registries, prospective studies and translational research. Full article

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Open AccessCase Report

Low QRS Voltage and Atrial Fibrillation Precluding Implantation of a Subcutaneous Implantable Cardioverterdefibrillator in a Patient with Arrhythmogenic Cardiomyopathy

by Peter C. Kahr, Jan Steffel, Alexander Breitenstein, Thomas Wolber, Laurent M. Haegeli, Deniz Akdis, Firat Duru, Corinna Brunckhorst and Ardan M. Saguner

Cardiogenetics 2017, 7(1), 7025; https://doi.org/10.4081/cardiogenetics.2017.7025 - 20 Dec 2017

Viewed by 857

Abstract

Arrhythmogenic cardiomyopathy (AC) is a rare mostly hereditary disease, in which fibro-fatty tissue replaces cardiomyocytes. Typically, the first alterations of the disease can be encountered in the epicardium of the right ventricle in adolescent patients. From there, the disease usually progresses over time. [...] Read more.

Arrhythmogenic cardiomyopathy (AC) is a rare mostly hereditary disease, in which fibro-fatty tissue replaces cardiomyocytes. Typically, the first alterations of the disease can be encountered in the epicardium of the right ventricle in adolescent patients. From there, the disease usually progresses over time. Besides the development of heart failure, the clinical significance of the disease is determined by the predisposition to potentially lethal ventricular arrhythmias. Hence, a majority of patients with AC require an implantable cardioverter-defibrillator (ICD) to be protected from sudden cardiac death. A recently developed alternative to transvenous systems are subcutaneous ICDs (S-ICD), associated with a lower risk of device-related complications such as endocarditis since no foreign material is implanted within the heart and vascular system. In this report, we describe and discuss our experience with the implantation of a S-ICD in a patient with AC, who had low QRS voltage and persistent atrial fibrillation precluding successful S-ICD implantation, as well as the challenges encountered during subsequent transvenous lead implantation. Full article

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Open AccessReview

Role of Ventricular Tachycardia Ablation in Arrhythmogenic Right Ventricular Cardiomyopathy

by Alberto Cipriani, Riccardo Bariani, Manuel De Lazzari, Federico Migliore, Carlo Angheben, Maurizio Del Greco, Domenico Corrado and Alessandro Zorzi

Cardiogenetics 2017, 7(1), 6882; https://doi.org/10.4081/cardiogenetics.2017.6882 - 7 Nov 2017

Cited by 1 | Viewed by 762

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by progressive fibro-fatty replacement of the myocardium that represents the substrate for recurrent sustained ventricular tachycardia (VT). These arrhythmias characterize the clinical course of a sizeable proportion of patients and have significant implications for their quality [...] Read more.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by progressive fibro-fatty replacement of the myocardium that represents the substrate for recurrent sustained ventricular tachycardia (VT). These arrhythmias characterize the clinical course of a sizeable proportion of patients and have significant implications for their quality of life and long-term prognosis. Antiarrhythmic drugs are often poorly tolerated and usually provide incomplete control of arrhythmia relapses. Catheter ablation is a potentially effective strategy to treat frequent VT episodes and ICD shocks in ARVC patients. The aims of this review are to discuss the electrophysiological and electroanatomic substrates of ventricular tachycardia in patients with ARVC and to analyze the role of catheter ablation in their management with particular reference to selection of patients, technical issues, potential complications and outcomes. Full article

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Open AccessReview

Pompe Disease, a Storage Cardiomyopathy

by Tiziana Felice

Cardiogenetics 2017, 7(1), 6857; https://doi.org/10.4081/cardiogenetics.2017.6857 - 10 Oct 2017

Cited by 5 | Viewed by 959

Abstract

Pompe disease also known as glycogen storage disease type II, is a rare and progressive lysosomal storage disorder caused by the deficiency of the enzyme acid α-glucosidase. This results in the accumulation of glycogen in various tissues particularly involving the heart, skeletal muscle [...] Read more.

Pompe disease also known as glycogen storage disease type II, is a rare and progressive lysosomal storage disorder caused by the deficiency of the enzyme acid α-glucosidase. This results in the accumulation of glycogen in various tissues particularly involving the heart, skeletal muscle and liver. It is inherited in an autosomal recessive manner due to mutations in the GAA gene. There are several known pathogenic variants, some of which are particularly common in certain geographical regions. Pompe disease is a single disease exhibiting a heterogeneous clinical spectrum depending on the extent of enzyme deficiency, the age of onset, the progression of the disease and the degree of organ involvement. It may lead to muscle weakness, hypotonia, respiratory compromise and premature death. Pompe disease is classically divided into two forms, infantile and late-onset disease. The infantile form is further subdivided into classical and non-classical subtypes. Cardiac involvement is particularly seen in the infantile phenotype of the condition, presenting as severe cardiomyopathy associated with conduction abnormalities. Enzyme replacement therapy with recombinant human acid α-glucosidase is the approved treatment option for patients with this metabolic condition. Further research is currently being done to explore more treatment options. One must keep in mind other metabolic and mitochondrial conditions, which may give a similar cardiac and neurological clinical picture. Full article

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Open AccessCase Report

Sudden Death in a Young Patient with Atrial Fibrillation

by María Tamargo, María Ángeles Espinosa, Víctor Gómez-Carrillo, Miriam Juárez, Francisco Fernández-Avilés and Raquel Yotti

Cardiogenetics 2017, 7(1), 6304; https://doi.org/10.4081/cardiogenetics.2017.6304 - 30 Aug 2017

Cited by 1 | Viewed by 789

Abstract

Sudden cardiac death (SCD) in young patients without structural heart disease is frequently due to inherited channelopathies such as long QT syndrome (LQTS), Brugada syndrome or Catecholaminergic polymorphic ventricular tachycardia. Accordingly, the addition of genetic testing to clinical data may be useful to [...] Read more.

Sudden cardiac death (SCD) in young patients without structural heart disease is frequently due to inherited channelopathies such as long QT syndrome (LQTS), Brugada syndrome or Catecholaminergic polymorphic ventricular tachycardia. Accordingly, the addition of genetic testing to clinical data may be useful to identify the cause of the sudden death in this population. Mutations in the KCNQ1 encoded Kv7.1 channel are related to type 1 LQTS, familial atrial fibrillation (AF), short QT syndrome, and SCD. We present a clinical case where the presence of AF after resuscitation in a young man with cardiac arrest was the key clinical data to suspect an inherited disorder and genetic testing was the main determinant for identifying the cause of the cardiac arrest. The KCNQ1 p.Arg231His mutation explained the combined phenotype of AF and susceptibility to ventricular arrhythmias. The case highlights the importance of continued research in genetics and molecular mechanisms of channelopathies. Full article

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Open AccessArticle

Mutations in Hotspot Region of MYH7 Gene Exon 23 Associated with Restrictive Cardiomyopathy

by Mitali Kapoor, Soumi Das, Amitabh Biswas, Sandeep Seth, Balram Bhargava and Vadlamudi Raghavendra Rao

Cardiogenetics 2017, 7(1), 6358; https://doi.org/10.4081/cardiogenetics.2017.6358 - 2 May 2017

Cited by 5 | Viewed by 1279

Abstract

Restrictive cardiomyopathy (RCM) is characterized by restrictive filling of the ventricles. The association between the variable expressivity and age at onset of disease and disease complexity with double and compound heterozygous state is associated with severity of disease phenotype in recent reports. Sharing [...] Read more.

Restrictive cardiomyopathy (RCM) is characterized by restrictive filling of the ventricles. The association between the variable expressivity and age at onset of disease and disease complexity with double and compound heterozygous state is associated with severity of disease phenotype in recent reports. Sharing of variants of sarcomere genes across cardiomyopathies has implication in clinical expression of different clinical phenotypes. The present study reports Sanger DNA sequencing of MYH7 gene, exon 23 from 30 unrelated RCM patients and 15 primary relatives from sporadic families with the hypothesis that RCM has common etiology with hypertrophic cardiomyopathy (HCM). Rare variant E949K and a de novo compound heterozygous mutation (p.E902K and p.D906N), in two RCM patients with early onset and no ventricular hypertrophy were found. These variants wereabsent in 50 dilated cardiomyopathy, 50 HCM patients and 15 primary relatives screened. The present report of rare and compound heterozygosity cases will further provide basis for the complexity and variable expressivity of phenotypes in patients in such complex diseases. The possible reasons for this phenotypic heterogeneity would be the presence of any other mutations in same chromosome or in different chromosome which is modifying the outcome of the causal mutation. Full article

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Open AccessReview

Diagnosis of Cardiomyopathies: Tips and Tricks for Internists and General Practitioners

by Giuseppe Palmiero, Guido Carlomagno and Giacomo Lucivero

Cardiogenetics 2017, 7(1), 6331; https://doi.org/10.4081/cardiogenetics.2017.6331 - 28 Apr 2017

Viewed by 756

Abstract

Cardiomyopathies are little known to internists and general practitioners (GPs), and not always able to arouse the interest of cardiologists. Probably, this happens because cardiomyopathies are perceived as rare and complex disorders, a prerogative of a few dedicated centers. This may partly explain [...] Read more.

Cardiomyopathies are little known to internists and general practitioners (GPs), and not always able to arouse the interest of cardiologists. Probably, this happens because cardiomyopathies are perceived as rare and complex disorders, a prerogative of a few dedicated centers. This may partly explain why the diagnosis of cardiomyopathy is often missed and, consequently, why cardiomyopathies are largely underdiagnosed. Internists and general practitioners should have an interest in these conditions, because cardiomyopathies are not as rare as generally perceived, and because their complexity can be unravelled with knowledge and methodology. Cardiomyopathies are defined as myocardial disorders in which the heart is structurally and functionally abnormal in the absence of coronary artery disease or abnormal loading conditions. Irrespective of the cardiac imaging technique used, a limited number of phenotypes are defined based on ventricular morphology and function. These basic phenotypes include hypertrophic, dilated, restrictive and right ventricular arrhythmogenic cardiomyopathies. Aim of this review is to describe a simplified approach to the detection of the underlying causes of specific phenotypes. We will focus our attention on the basic phenotypes, presenting a diagnostic work-up and a suggestive clinical case for each phenotype. Full article

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Cardiogenetics, Volume 7, Issue 1 (April 2017) – 7 articles

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