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Cardiogenetics
Volume 1
Issue s1
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.

Cardiogenetics, Volume 1, Issue s1 (November 2011) – 8 articles

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544 KiB  
Article
Preface
by Lia Crotti
Cardiogenetics 2011, 1(s1), ei; https://doi.org/10.4081/cardiogenetics.2011.s1.ei - 20 Nov 2011
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Abstract
On behalf of the Working Group on Cellular and Molecular Biology of the Italian Society of Cardiology, we are glad to present this special issue devoted to Channelopathies, the genetically transmitted ion channel diseases.[...] Full article
367 KiB  
Review
Recent Advances in the Genetics of Atrial Fibrillation: From Rare and Common Genetic Variants to microRNA Signaling
by Moritz F. Sinner, Sebastian Clauss, Reza Wakili, Thomas Meitinger, Heidi Estner and Stefan Kääb
Cardiogenetics 2011, 1(s1), e7; https://doi.org/10.4081/cardiogenetics.2011.s1.e7 - 20 Nov 2011
Cited by 3 | Viewed by 1
Abstract
Besides traditional risk factors, atrial fibrillation (AF) also shares a strong genetic component. Here, we review the genetics of AF including monogenic forms of AF, heritability of AF, complex genetic risk of AF, and the role of microRNAs in AF pathophysiology. Thirtytwo mutations [...] Read more.
Besides traditional risk factors, atrial fibrillation (AF) also shares a strong genetic component. Here, we review the genetics of AF including monogenic forms of AF, heritability of AF, complex genetic risk of AF, and the role of microRNAs in AF pathophysiology. Thirtytwo mutations (17 genes) have been reported to cause familial AF. Mutations in cardiac ion channel genes or their subunits alter electrical properties and thereby lead to AF. Recently, also non-ion channel gene mutations have been identified to cause familial AF. Twin and community-based studies suggested AF to be heritable also on the population level. The AF risk in the offspring of an affected first-degree relative ranged between 2- to 5-fold, depending on the age of onset. Thereby, the risk of AF increases gradually the earlier the youngest relative of an AF patient developed the arrhythmia. African Americans bear a lesser risk of AF compared to individuals of European ancestry. Their risk rises with increasing European admixture. Genome wide association studies have revealed loci on chromosomes 4q25, 16q21 and 1q21 conferring risk of AF. Very recently, another consortial effort has identified a novel locus on chromosome 1, intronic to IL6R. IL6R encodes the a subunit of the interleukin 6 receptor. MicroRNAs were shown to regulate gene expression, and are increasingly reported to modify AF. A hallmark of AF pathophysiology is electrical and structural remodeling. MicroRNAs are involved in this process by regulating gene expression of cardiac ion channels, calcium handling proteins, transcription factors, and extracellular matrix related proteins. Full article
550 KiB  
Review
Sudden Infant Death Syndrome and Cardiac Channelopathies: From Mechanisms to Prevention of Avoidable Tragedies
by Roberto Insolia, Alice Ghidoni, Cinzia Dossena, Elisa Mastantuono and Peter J. Schwartz
Cardiogenetics 2011, 1(s1), e6; https://doi.org/10.4081/cardiogenetics.2011.s1.e6 - 20 Nov 2011
Cited by 2 | Viewed by 1
Abstract
The sudden infant death syndrome (SIDS), with the load of mystery surrounding its causes and with the devastating impact on the affected families, remains the greatest contributor to post-neonatal mortality during the first year of life. Following a succinct review of the non-cardiac [...] Read more.
The sudden infant death syndrome (SIDS), with the load of mystery surrounding its causes and with the devastating impact on the affected families, remains the greatest contributor to post-neonatal mortality during the first year of life. Following a succinct review of the non-cardiac genetic factors, which have been associated with SIDS, we focus on the cardiac hypothesis for SIDS and specifically on those diseases produced by cardiac ion channel mutations, the so-called channelopathies. Special attention is devoted to the fact that these causes of SIDS, and especially the long QT syndrome, are preventable if diagnosed in time. This highlights the importance of neonatal ECG screening and carries a number of practical implications, including medico-legal considerations. Full article
972 KiB  
Review
Short QT Syndrome
by Carla Giustetto, Chiara Scrocco, Daniela Giachino, Charles Antzelevitch and Fiorenzo Gaita
Cardiogenetics 2011, 1(s1), e5; https://doi.org/10.4081/cardiogenetics.2011.s1.e5 - 20 Nov 2011
Cited by 2 | Viewed by 1
Abstract
The short QT syndrome (SQTS) is a recently described genetic arrhythmogenic disorder, characterized by abnormally short QT intervals on surface electrocardiogram (ECG) and a high incidence of sudden death (SD) during life, including the first months of life. The inheritance of SQTS is [...] Read more.
The short QT syndrome (SQTS) is a recently described genetic arrhythmogenic disorder, characterized by abnormally short QT intervals on surface electrocardiogram (ECG) and a high incidence of sudden death (SD) during life, including the first months of life. The inheritance of SQTS is autosomal dominant, with genetic heterogeneity. Gain-of-function mutations in 3 genes encoding potassium channels have been associated to the disease: KCNH2 encoding IKr (SQT1), KCNQ1 encoding IKs (SQT2), and KCNJ2 encoding IK1 (SQT3). Loss-of-function mutations in 3 genes encoding the cardiac L-type calcium channel, CACNA1C, CACNB2b and CACNA2D1 may underlie a mixed phenotype of Brugada pattern ECG (or non-specific repolarization changes in case of CACNA2D1) and shorter than normal QT intervals. Clinical presentation is often severe, as cardiac arrest represents the first clinical presentation in most subjects. Moreover, often a noticeable family history of cardiac SD is present. Atrial fibrillation may be observed, also in young individuals. At electrophysiological study, short atrial and ventricular refractory periods are found, and atrial and ventricular fibrillation are easily induced by programmed electrical stimulation. The outcome of patients with SQTS becomes relatively safe when they are identified and treated. Currently, the suggested therapeutic strategy is an implantable cardioverter- defibrillator (ICD) in patients with personal history of aborted SD or syncope. In asymptomatic adult patients from highly symptomatic families and in newborn children pharmacological treatment with hydroquinidine, which has been shown to prolong the QT interval and reduce the inducibility of ventricular arrhythmias, may be proposed. Full article
432 KiB  
Review
Catecholaminergic Polymorphic Ventricular Tachycardia in 2012
by Ineke Nederend, Christian van der Werf and Arthur A.M. Wilde
Cardiogenetics 2011, 1(s1), e4; https://doi.org/10.4081/cardiogenetics.2011.s1.e4 - 20 Nov 2011
Cited by 1 | Viewed by 1
Abstract
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, potentially lethal inherited arrhythmia syndrome characterized by stress or emotion-induced ventricular arrhythmias. CPVT was first described in 1960, while the genetic basis underlying this syndrome was discovered in 2001. The past decade has seen substantial [...] Read more.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, potentially lethal inherited arrhythmia syndrome characterized by stress or emotion-induced ventricular arrhythmias. CPVT was first described in 1960, while the genetic basis underlying this syndrome was discovered in 2001. The past decade has seen substantial advances in understanding the pathophysiology of CPVT. In addition, significant advances have been made in elucidating clinical characteristics of CPVT patients and new treatment options have become available. Here, we review current literature on CPVT to present state-of-the-art knowledge on the subject of the genetic basis, pathophysiology, clinical presentation, diagnosis, treatment and prognosis. Full article
536 KiB  
Review
Brugada Syndrome
by Rachel Bastiaenen and Elijah R. Behr
Cardiogenetics 2011, 1(s1), e3; https://doi.org/10.4081/cardiogenetics.2011.s1.e3 - 20 Nov 2011
Viewed by 1
Abstract
The Brugada syndrome demonstrates characteristic electrocardiogram features and is a significant cause of sudden death in young adults with overtly normal cardiac structure and function. The genetic basis has not yet been fully elucidated but our understanding of the causative mutations and modifiers [...] Read more.
The Brugada syndrome demonstrates characteristic electrocardiogram features and is a significant cause of sudden death in young adults with overtly normal cardiac structure and function. The genetic basis has not yet been fully elucidated but our understanding of the causative mutations and modifiers of arrhythmic events is advancing rapidly alongside sequencing technologies. We expect that the future will include risk stratification according to genotype and management tailored to the genetic diagnosis. Full article
264 KiB  
Review
Long QT Syndrome: From Genetic Basis to Treatment
by Lia Crotti, Federica Dagradi and Peter J. Schwartz
Cardiogenetics 2011, 1(s1), e2; https://doi.org/10.4081/cardiogenetics.2011.s1.e2 - 20 Nov 2011
Abstract
The congenital long QT syndrome (LQTS) is a monogenic disorder, not as rare as it was originally estimated to be, mainly caused by mutations in genes encoding for ion channels. Molecular screening in this disease is part of the diagnostic process and this [...] Read more.
The congenital long QT syndrome (LQTS) is a monogenic disorder, not as rare as it was originally estimated to be, mainly caused by mutations in genes encoding for ion channels. Molecular screening in this disease is part of the diagnostic process and this has already been recognized by current guidelines since 2006. However, very recently, two consensus documents have been published, with the recommendations for the use of genetic testing in the clinical evaluation of genetically transmitted arrhythmogenic diseases. Therefore, we devoted a specific section of the present review to the discussion of these two documents in relation to LQTS. The clinical presentation of the disease is typically characterized by a prolongation of the QT interval on the electrocardiogram (ECG) and by the occurrence of syncope or cardiac arrest, mainly precipitated by sympathetic activation. While the diagnosis of typical cases it is quite easy, borderline cases can be quite challenging and therefore the availability of diagnostic criteria is very useful to support the diagnostic process. Very recently, the LQTS diagnostic criteria have been updated and they are presented in the current review. Finally, the clinical management of LQTS patients is presented together with a schematic flow-chart and recent data coming from the LQTS-ICD European registry are illustrated. The last part of the review is dedicated at future perspectives and latest results on modifier genes and stem cells are presented. Full article
509 KiB  
Editorial
Ion Channels and Beating Heart: The Players and the Music
by Lia Crotti, Giuseppe Limongelli and Charles Antzelevitch
Cardiogenetics 2011, 1(s1), e1; https://doi.org/10.4081/cardiogenetics.2011.s1.e1 - 20 Nov 2011
Cited by 2 | Viewed by 1
Abstract
Soft gentle music accompanies us throughout our lifetime; it is the music of our heart beating. Although at times it is questionable as to who serves as conductor of the orchestra, there is little doubt that our ion channels are the main players. [...] Read more.
Soft gentle music accompanies us throughout our lifetime; it is the music of our heart beating. Although at times it is questionable as to who serves as conductor of the orchestra, there is little doubt that our ion channels are the main players. Whenever one of them plays too loudly, too softly or simply off key, disharmony results, sometimes leading to total disruption of the rate and rhythm. Ion channels can disrupt the music of our heart by different mechanisms. Sometimes their function is correct, but their expression is altered by underlying cardiac diseases (i.e. heart failure); sometimes the defect is in their structure, because of an underlying genetic defect, and in this case a channelopathy is present. Full article
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