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Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

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Nội dung chi tiết: Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

Part VMechanisms of Inherited ArrhythmiaChapter 21Intracellular Calcium Handling and InheritedArrhythmogenic DiseasesNicola Monteforte, Carlo Napolita

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2ano, Raffaella Bloise, and Silvia G. Priori21.1IntroductionDiseases caused by a single genetic defect are referred to as monogenic disorders. These di

sorders arc inherited as dominant or recessive traits with different inheritance patterns (autosomal dominant, autosomal recessive, X-linkcd dominant. Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

X-linkcd recessive, matrilineal transmission).In cardiology, there arc two major clusters of monogenic disorders: (a) the cardiomyopathies due to alt

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

erations in sarcomeric and in cytoskeletal proteins, and (b) the arrhythmogcnic diseases that are caused by mutations in ion channels and ion channel-

Part VMechanisms of Inherited ArrhythmiaChapter 21Intracellular Calcium Handling and InheritedArrhythmogenic DiseasesNicola Monteforte, Carlo Napolita

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2ic ventricular tachycardia (CPVT).N. Monteforte and R. BloiseMolecular Cardiology, Fondazione s. Maugeri 1RCCS, Via Salvatore Maugeri 10/10A. 27100 Pa

via. Italyc. NapolitanoMolecular Cardiology. Fondazione s. Maugeri 1RCCS. Via Salvatore Maugeri 10/10A, 27100Pavia. Italy andCardiovascular Genetics P Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

rogram: Leon H. Charney Division of Cardiology, New York University.New York, NY. USAS.G. Priori (CE3)Molecular Cardiology. Fondazione S. Maugeri 1RCC

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

S. Via Salvatore Maugeri 10/10A, 27100Pavia. ItalyandCardiovascular Genetics Program: Leon H. Charney Division of Cardiology. New York University.New

Part VMechanisms of Inherited ArrhythmiaChapter 21Intracellular Calcium Handling and InheritedArrhythmogenic DiseasesNicola Monteforte, Carlo Napolita

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2Rate and Rhythm,387388N. Monteforte et al.Inherited arrhythmogenic diseases are associated with an increased risk for ventricular arrhythmias. These d

iseases are often asymptomatic for many years and are not detected until the first clinical presentation such as syncope or sudden cardiac death. In a Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

pproximately I (>-20% of all sudden deaths, no structural cardiac abnormalities can be identified 11]. These diseases often affect young, otherwise he

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

althy individuals, and the conventional electrocardiogram (ECG) is important for diagnosing established diseases or detecting novel entities associate

Part VMechanisms of Inherited ArrhythmiaChapter 21Intracellular Calcium Handling and InheritedArrhythmogenic DiseasesNicola Monteforte, Carlo Napolita

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2 implantable cardioverter defibrillator (ICD) is the only option for high risk patients.It is important to consider that the clinical manifestations o

f these diseases may significantly vary from one patient to the other even in the presence of the same genetic defect. In technical terms, this phenom Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

enon is attributed to the “variable expressivity” (nonuniform clinical severity of carriers of the same genetic defect) and the incomplete penetrance

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

(i.e.. the ratio between carriers of a given gene defect and the number of clinically affected individuals is lower than 1). The identification of the

Part VMechanisms of Inherited ArrhythmiaChapter 21Intracellular Calcium Handling and InheritedArrhythmogenic DiseasesNicola Monteforte, Carlo Napolita

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2 but more importantly, it has provided major practical information that is helpful when managing affected individuals.hl this chapter, we focus on the

genetic basis, the clinical features, and the main therapeutic strategics of the most important channclopathics caused by a genetically determined im Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

pairment of intracellular calcium handling such as CPVT. Timothy syndrome ((TS), a variant of long QT syndrome (LỌT8)]. and two genetic variants of Br

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

ugada syndrome (BrS3 and BrS4).21.2Catecholaminergic Polymorphic Ventricular TachycardiaCPVT is a severe disorder, with a high incidence of sudden car

Part VMechanisms of Inherited ArrhythmiaChapter 21Intracellular Calcium Handling and InheritedArrhythmogenic DiseasesNicola Monteforte, Carlo Napolita

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2 came in 1978 with the work of Coumel Ct al. [6] and was further refined by the same group in 1995 [7|. In 2001. molecular genetic studies unveiled th

at CPVT results from inherited defects of intracellular calcium handling that cause abnormal Ca2+ release form the sarcoplasmic reticulum (SR). We rep Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

orted for the first time that the autosomal dominant form of the disease was caused by mutations in the gene encoding for the cardiac ryanodine recept

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2

or (RyR2) [8]. Shortly after, the gene for the autosomal recessive form of CPVT was identified as the gene encoding cardiac calsequestrin (CA.SQ2) [9J

Part VMechanisms of Inherited ArrhythmiaChapter 21Intracellular Calcium Handling and InheritedArrhythmogenic DiseasesNicola Monteforte, Carlo Napolita

Ebook Heart rate and rhythm molecular basis pharmacological modulation and clinical implications: Part 2derstanding of arrhythmo-gcnic mechanisms in this disease.21 Intracellular Calcium Handling and inherited Arrhylhmogenic Diseases389

Part VMechanisms of Inherited ArrhythmiaChapter 21Intracellular Calcium Handling and InheritedArrhythmogenic DiseasesNicola Monteforte, Carlo Napolita

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