Abnormal electroencephalogram, epileptic seizures, structural congenital heart disease and aborted sudden cardiac death in Andersen–Tawil syndrome

Márquez, Manlio F.; Totomoch-Serra, Armando; Burgoa, Javier A.; Mendez, Aurelio; Gómez-Flores, Jorge; Nava, Santiago; Cárdenas, Manuel

doi:10.1016/j.ijcard.2014.11.157

Cited by 12 publications

(8 citation statements)

References 16 publications

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“…The external phenotype identified in this group of Mexican patients with ATS agree with the clinical data previously informed in literature 15,16 , where the more common features were a triangular head, broad forehead, flared eyebrow, ptosis palpebral, mandibular hypoplasia, dental alterations, thin lips, camptodactyly, clinodactyly in feet, syndactyly, and muscle weakness. However, the case 2 had a typical appearance with the bulbous nose present and diverse dental anomalies, which in conjunction with the cardiac alterations previously informed, helped to identify in 2015 the second pathogenic variant for Mexicans 12 , and a variant of unknown significance in the CACN1C (under functional genomic study) since the first cases by Canun et al, 2 and Plaster et al, 17 carrying the pathogenic variant c.212A>T [p.Asp71Val]. However, the cases 1, 3, and 4 had attenuated facial alterations and were identified because in a detailed exploration, subtle alterations were showed and, in conjunction with a history of weakness, makes mandatory to perform KCNJ2 Sanger sequencing.…”

Section: Discussionmentioning

confidence: 93%

Andersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes

Barrón-Díaz

Totomoch-Serra

Escobar-Cedillo

et al. 2021

RIC

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Background: Andersen-Tawil syndrome (ATS) is a cardiac channelopathy that is inherited in an autosomal dominant way, and it is characterized by a triad of periodic paralysis, ventricular arrhythmias, and includes some dysmorphic features with incomplete penetrance and variable expression that result in a challenging diagnosis. Objective: The objective of the study was to describe the cardiac and extra-cardiac phenotype in a cohort of patients with ATS at risk of sudden cardiac death (SCD) to improve its early clinical identification. Methods: In an observational, transversal study, with a deviant case sampling, four female patients with ATS at high risk of SCD were included in the study. They carried the heterozygous pathogenic variants c.407C>T [p.Ser136Phe], c.652C>T [p.Arg218Trp] (n=2), and c.431G>C [p.Gly144Ala] in the KCNJ2 gene. Patients were evaluated by a cardiologist, a clinical geneticist, and a physiatrist. Results: One patient had the classical facial phenotype and the other three had subtle manifestations. The group of patients presented a diverse set of clinical data such as: triangular face, broad forehead, broadening of medial eyebrows, auricular pits, low-set ears, eyelid ptosis, thin lips, mandibular hypoplasia, and diverse types of dental alterations, single transverse palmar crease, camptodactyly, and syndactyly. Long-exercise test showed a decrement in the percentage amplitude up to 44%, classifying patients in IV or V types according to Fournier's scale. Conclusions: Extracardiac manifestations were a common finding in this series of ATS type1 at high risk of SCD. Its recognition could help the clinician in the early identification of patients with ATS, especially for the cardiologist since they are commonly referred only for evaluation of ventricular arrhythmias. (REV INVEST CLIN. [AHEAD OF PRINT])

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Section: Discussionmentioning

confidence: 93%

Andersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes

Barrón-Díaz

Totomoch-Serra

Escobar-Cedillo

et al. 2021

RIC

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“…Due to the recent discovery of TRDN 47 , CALM1 44 , and TECRL 55 genes as causes of CPVT, their inclusion in previous guidelines had not been contemplated, but we recommend screening after exclusion of RYR2 and CASQ as causes of this disease. Other genes to consider in a genetic test are KCNJ2 [71][72][73][74] and ANKB 75 .…”

Section: Genetic Testingmentioning

confidence: 99%

Basic and Clinical Insights in Catecholaminergic (Familial) Polymorphic Ventricular Tachycardia

Márquez¹,

Totomoch-Serra²,

Rueda³

et al. 2019

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal disease, whose characteristic ventricular tachycardias are adrenergic-dependent. Although rare, CPVT should be considered in the differential diagnosis of young individuals with exercise-induced syncope. Mutations in five different genes (RYR2, CASQ2, CALM1, TRDN, and TECRL) are associated with the CPVT phenotype, although RYR2 missense mutations are implicated in up to 60 % of all CPVT cases. Genetic testing has an essential role in the diagnosis, management, pre-symptomatic diagnosis, counseling, and treatment of the proband; furthermore, genetic information can be useful for offspring and relatives. By expert consensus, CPVT gene testing is a Class I recommendation for patients with suspected CPVT. Beta-adrenergic and calcium-channel blockers are the cornerstones of treatment due to the catecholaminergic dependence of the arrhythmias. Unresponsive patients are treated with an implantable cardioverter-defibrillator to reduce the risk of sudden cardiac death. In the present article, a brief review of the genetic and molecular mechanisms of this intriguing disease is provided.

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“…Prolonged Q-U interval, ventricular arrhythmias, periodic paralysis and mild facial or skeletal abnormalities characterize ATS (Marquez et al 2015 (Sanguinetti 2012;Mechakra et al 2014). Mutation in the KCNH2 gene (loss of function) and KCNQ1 is also associated with epilepsy.…”

Section: Channelopathiesmentioning

confidence: 99%

Role of risk stratification and genetics in sudden cardiac death

Rai

Agrawal

2017

Can. J. Physiol. Pharmacol.

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Keyword:Sudden cardiac death, coronary artery disease, heart failure, Arrhythmias, Atrial fibrillation https://mc06.manuscriptcentral.com/cjpp-pubs AbstractSudden cardiac death (SCD) is a major public health issue due to its increasing incidence in the general population and the difficulty in identifying high-risk individuals.Nearly 300,000-350,000 patients in the United States and 4-to 5 million patients in the world die from SCD. Coronary artery disease and advanced heart failure are the main etiology for SCD. Ischemia of any cause precipitates lethal arrhythmias, and ventricular tachycardia and ventricular fibrillation are the most common lethal arrhythmias precipitating SCD. Pulse-less electrical activity, brady-arrhythmia and electromechanical dissociation also result in SCD.Most sudden cardiac deaths occur out-of-the-hospital setting, so it is difficult to estimate the public burden, which results in overestimating the incidence of SCD. The insufficiency and limited predictive value of various indicators and criteria for SCD result in the increasing incidences. As a result, there is a need to develop better risk stratification criteria and find modifiable variables to decrease the incidence. Primary and secondary prevention and treatment of SCD need further research. This critical review is focused on the etiology, risk factors, prognostic factors and importance of risk stratification of SCD.Key words: Sudden cardiac death, Coronary artery disease, Heart failure, Arrhythmias, Atrial fibrillation, Ventricular fibrillation, Channelopathies, Risk stratification, Prevention

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Abnormal electroencephalogram, epileptic seizures, structural congenital heart disease and aborted sudden cardiac death in Andersen–Tawil syndrome

Cited by 12 publications

References 16 publications

Andersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes

Andersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes

Basic and Clinical Insights in Catecholaminergic (Familial) Polymorphic Ventricular Tachycardia

Role of risk stratification and genetics in sudden cardiac death

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