1,721,357 research outputs found
Flecainide monotherapy for catecholaminergic polymorphic ventricular tachycardia: Perspectives and limitations
No full textLow penetrance in the Long QT Syndrome. Clinical Impact.
No full textBACKGROUND:
It is still currently held that most patients affected by the long-QT syndrome (LQTS) show QT interval prolongation or clinical symptoms. This is reflected by the assumption in linkage studies of a penetrance of 90%. We had previously suggested that a larger-than-anticipated number of LQTS patients might be affected without showing clinical signs. We have now exploited the availability of molecular diagnosis to test this hypothesis.
METHODS AND RESULTS:
We identified 9 families with "sporadic" cases of LQTS, ie, families in which, besides the proband, none of the family members had clinical signs of the disease. Mutation screening by conventional single-strand conformational polymorphism and sequencing was performed on DNA of probands and family members to identify mutation carriers. Of 46 family members considered on clinical grounds to be nonaffected, 15 (33%) were found instead to be gene carriers. Penetrance was found to be 25%. In these families, conventional clinical diagnostic criteria had a sensitivity of only 38% in correctly identifying carriers of the genetic defect.
CONCLUSIONS:
This study demonstrates that in some families, LQTS may appear with a very low penetrance, a finding with multiple clinical implications. The family members considered to be normal and found to be silent gene carriers are unexpectedly at risk of generating affected offspring and also of developing torsade de pointes if exposed to either cardiac or noncardiac drugs that block potassium channels. It is no longer acceptable to exclude LQTS among family members of definitely affected patients on purely clinical grounds. Conversely, it now appears appropriate to perform molecular screening in all family members of genotyped patients
The long QT syndrome
No full textLQTS: Definition, Cardinal Symptoms, threatment with B- Blockers or ICD
TRANSGENIC ANIMAL MODEL FOR CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT) AND USE THEREFORE
No full textE' stato brevettato un topo nel quale compare una mutazione nel gene del recettore cardiaco della riandodina RyR
Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca release channels
No full textHere we review the current knowledge about the mutations of the gene encoding the cardiac ryanodine receptor
(RyR2) that cause cardiac arrhythmias. Similarities between the mutations identified in the RyR2 gene and those
found in the gene RyR1 that cause malignant hyperthermia and central core disease are discussed. In vitro functional
characterization of RyR1 and RyR2 mutants is reviewed, with a focus on the contribution that in vitro expression
studies have made to our understanding of related human diseases
Should patients with an asymptomatic Brugada electrocardiogram undergo pharmacological and electrophysiological testing?
No full textIn 1992, Brugada et al 1 suggested that the presence of right bundle-branch block and ST-segment elevation in leads V1 to V3 in the absence of structural heart disease is a marker of susceptibility to ventricular fibrillation and represents the diagnostic feature of a novel syndrome that rapidly became known as “Brugada syndrome.” A few years later, mutations in the human cardiac sodium channel gene (SCN5A) were identified in 3 families affected by the syndrome and was therefore classified among the inherited arrhythmogenic diseases.2
In the past 12 years, Brugada syndrome has become the focus of active investigations, and it has generated strong scientific debate concerning its diagnosis, risk stratification, and treatment. In this article, we present our view on the diagnosis and management of Brugada syndrome, with a specific focus on asymptomatic patients
Meandering Pathway Leading From Genotyping to Personalized Management of Long-QT Syndrome
No full textMutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events:
implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrom
Molecular diagnosis of inherited cardiac diseases: Impact on clinical practice.
No full textReview article on the impact of genetics in arrhythmolog
La Sindrome di Brugada. Aspetti clinici, epidemiologici ed elettrofisiologici.
No full textDiscussione sulle caratteristiche cliniche della sindrome di Brugada, malattia aritmogena di recente identificazion
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