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La Sindrome di Brugada
No full textBrugada syndrome is an inherited arrhythmogenic disease, that may cause syncope and sudden cardiac death in young individuals with a normal heart. It is characterized by a typical electrocardiographic pattern: complete or incomplete right bundle branch block and ST segment elevation in leads V1-V3. Thus far, the only gene linked to this syndrome is the gene SCN5A, the gene encoding for the cardiac sodium channel, that is also responsible of the LQT3 form of the Long QT syndrome. Mutations in SCN5A, responsible for Brugada syndrome, cause a functional reduction in the availability of cardiac sodium current. However, only 20-25% of patients affected by this syndrome have mutations on this gene. Therefore, the diagnosis of the syndrome is difficult, because it could manifest at first time as cardiac arrest without any previous symptom and the electrocardiographic pattern could be intermittent, thus a pharmacological challenge with antiarrhythmic class I drugs is required to unmask ST elevation. The clinical management is still empiricial because pharmacological therapies lack to show effectiveness and the only life-saving option is an implantable cardioverter defibrillator (ICD). So the identification of clinical parameters as predictors of adverse outcome for risk stratification has became of outmost importance for the clinical management of these patients, to discover which patients really need an ICD. This review presents clinical and genetic features of Brugada syndrome and the most recent diagnostic criteria. It will be discussed, therefore, the prognostic value of clinical tests, and especially of the programmed electrical stimulation, as prognostic predictors of sudden cardiac death to identify higher risk patients
Ion Channel Diseases and Sudden Cardiac Death
No full textReview article on genetic bases of sudden death and inherited arrhythmia
Molecular Bases of Juvenile Sudden Cardiac Death.
No full textMolecular genetic has entered clinical cardiology and is contributing to the understanding of inherited diseases and of previously unexplained disorders. One of the most important contribution of 'genetic screening for cardiovascular diseases lies ín the identifications of inherited abnormalities that may predispose individuals to sudden unexplained cardiac death 'The development of techniques to perform population screening for qenetic defects of ion channels and structural proteins of the heart, will guide presymptornatic identification of individuals at risk and-will become a novel approach for risk stratification and for prevention of juvenile sudden death
Molecular genetics: is it making an impact in the management of inherited arrhythmogenic syndromes?
No full textIn the early nineties, the progressive
interaction between molecular biology
and clinical cardiology contributed
to the identification of the genetic
bases of several inherited diseases causing
sudden cardiac death (SCD) in young individuals
with a structurally intact heart.
The awareness that an “electrical imbalance”,
caused by mutations on the genes
that encode for cardiac ionic channels, may
provoke ventricular arrhythmias and SCD
has allowed us to understand that many
cases of idiopathic ventricular fibrillation
are caused by diseases such as the long
QT syndrome (LQTS), the Brugada syndrome
(BS), catecholaminergic polymorphic
ventricular tachycardia (CPVT) or
the recently described short QT syndrome
(SQTS)
Routine electrocardiogram and medical history in syncope: a simple approach can identify most high-risk patients
No full textSyncope accounts for 3–5% Emergency Department visits and for 1–6% of urgent hospital admissions each year.1 In the USA, between 1 and 2 million patients are evaluated annually for syncope. Despite the updated clinical guidelines and the development of diagnostic algorithms over recent years, the cost associated with hospitalization and clinical management of syncope is still overwhelming
La Sindrome di Brugada
No full textIn questo capitolo vengono presentate la caretteristiche cliniche e genetich edella Sindrome di Brugada con particolare attenzione ai nuovi geni coinvolti e alla nupove ipotesi sui meccanismi fisiopatologic
La Sindrome di Brugada: aspetti clinici, criteri diagnostici, stratificazione prognostica.
No full textLa sindrome di Brugada è una malattia aritmogena, caratterizzata
da un peculiare pattern elettrocardiografico, rappresentato
da BBD completo o incompleto e da sopraslivellamento del
tratto ST. È una malattia genetica a trasmissione autosomica dominante
che causa sincopi o arresto cardiaco in individui giovani
con cuore strutturalmente sano. L’unico gene finora scoperto
come responsabile della patologia è il gene SCN5A, che codifica
il canale ionico cardiaco per la corrente depolarizzante di sodio
INa. Lo stesso gene è responsabile anche della forma LQT3 della
sindrome del QT lungo. Tuttavia, solo il 20-25% dei casi di sindrome
di Brugada presenta mutazioni su questo gene. Inoltre, il
quadro clinico della malattia è complesso, in quanto frequentemente
il pattern elettrocardiografico tipico non è presente in basale
e deve essere ricercato mediante test provocativi farmacologici,
con flecainide o ajmalina. Dal momento che non esiste una
terapia medica efficace per la malattia, l’unica possibilità di intervento
terapeutico è rappresentata dall’impianto di ICD. È diventato
quindi fondamentale ricercare gli strumenti che possano
fornire informazioni adeguate per la stratificazione del rischio in
questi pazienti, in modo da identificare quali siano realmente
candidati all’impianto di ICD. La stimolazione elettrica programmata
non si è al momento dimostrata un esame efficace. Un recente
studio su 200 pazienti ha dimostrato che la presenza spontanea
del pattern ECGrafico e un’anamnesi di sincope rappresentano
i più precisi predittori di arresto cardiaco. Questa rassegna
presenta gli aspetti clinici e fisiopatologici della sindrome di Brugada,
i nuovi criteri diagnostici e di stratificazione prognostica
per orientare nella gestione clinica di questi pazienti.
Parole chiave: aritmie, canali ionici, morte cardiaca improvvis
Genetics of ion-channel disorders
No full textAbstract
PURPOSE OF REVIEW:
In this article, we summarize the main features of the most common inherited channelopathies, focusing on the findings that advanced the field in the last few years.
RECENT FINDINGS:
The progress in genetics prompted the discovery of several new genes associated with ion-channel disorders, elucidating new molecular pathways and new arrhythmogenic mechanisms. The diffusion and availability of genetic screening gave a new relevance to the application of genetics not only for diagnosis, but also for risk assessment and therapeutic decisions. As a consequence, the present challenge in the field is represented by the need to use genetic data to develop personalized clinical approaches.
SUMMARY:
Over a few years, the field of inherited arrhythmogenic diseases has rapidly expanded, thus reshaping clinical management for these conditions. It is now clear that to handle these patients a specialized expertise is needed, able to translate the discoveries derived from basic science studies into the clinical care of the patients
Genetics of sudden death: focus on inherited channelopathies
No full textAbstract
Since the discovery of the genetic bases of the long QT syndrome, several new genetically mediated arrhythmias have been described, defining a new group of syndromes, called inherited arrhythmogenic diseases. This allowed clarifying the substrate of several cases of juvenile sudden death, previously defined as 'idiopathic ventricular fibrillation'. Studies derived from this field also contributed to advance the field of electrophysiology, elucidating some of the mechanisms that regulate the cardiac electrical properties of the heart. Recently, new genes and new proteins have been called into play, expanding the knowledge on the complexity of the regulatory processes modulating the cardiac action potential. Moreover, the collaboration between clinicians and basic scientists opened new approaches in the management of patients affected by genetic arrhythmias. This body of knowledge has then moved into the realization that genetic variations may also influence the predisposition to acquired cardiac diseases. The new exciting challenges that investigators are now facing are connected to the possibility of expanding the field towards the use of these information to shape a newer vision in the management and cure of patients
A clinical approach to inherited arrhythmias
Full text linkIn the past decade, the discovery that cases of ventricular arrhythmias and sudden cardiac death (SCD) in young individuals potentially could be caused by an unrecognized genetic substrate has defined a new subset of cardiac conditions: inherited arrhythmogenic diseases (IADs).1 Although rare in clinical practice, these diseases are more common than previously thought. They represent a challenge for the arrhythmia specialist in terms of diagnosis and clinical management. The correct diagnosis of IADs, as well as the use and interpretation of the results of genetic testing, are not straightforward and require a specific expertise such as that provided by specialized and dedicated centers. Here we will review the general issues arising from the correct interpretation of genetic testing and its indications. We also will focus on the clinical management and use of genetic information in different inherited arrhythmias
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