| Journal: | Revista de investigación clínica |
| Database: | PERIÓDICA |
| System number: | 000453067 |
| ISSN: | 0034-8376 |
| Authors: | Barrón Díaz, David R1 Totomoch Serra, Armando2 Escobar Cedillo, Rosa E3 García Gutierrez, Alan1 Reyes Quintero, Álvaro E1 Villegas Davirán, Sergio E3 Ibarra Miramón, Concepción B4 Márquez, Manlio F1 |
| Institutions: | 1Instituto Nacional de Cardiología Ignacio Chávez, Departamento de Electrofisiología, Ciudad de México. México 2Instituto Politécnico Nacional, Centro de Investigación y Estudios Avanzados, Ciudad de México. México 3Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Servicio de Electrodiagnóstico y Distrofia Muscular, Ciudad de México. México 4Centro Nacional Modelo de Atención, Investigación y Capacitación para la Rehabilitación e Integración Educativa Gaby Brimmer, Departamento de Evaluación y Tratamiento, Ciudad de México. México |
| Year: | 2021 |
| Season: | May-Jun |
| Volumen: | 73 |
| Number: | 3 |
| Pages: | 145-153 |
| Country: | México |
| Language: | Inglés |
| Document type: | Artículo |
| Approach: | Analítico, descriptivo |
| English abstract | 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: Extra-cardiac 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 |
| Disciplines: | Medicina |
| Keyword: | Sistema cardiovascular, Genética, Síndrome de Andersen-Tawil, Variabilidad fenotípica, Parálisis periódica |
| Keyword: | Cardiovascular system, Genetics, Andersen-Tawil syndrome, Phenotypic variability, Periodic paralysis |
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