Novel PRKAG2 Variant Manifesting with a Cardiac Arrest in a Child
| العنوان: | Novel PRKAG2 Variant Manifesting with a Cardiac Arrest in a Child |
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| المؤلفون: | Dominic Hares, Karen McLeod, Georgia Spentzou, Ruth McGowan |
| المصدر: | Pediatric Cardiology. 41:843-845 |
| بيانات النشر: | Springer Science and Business Media LLC, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Adolescent, Population, AMP-Activated Protein Kinases, 030204 cardiovascular system & hematology, Left ventricular hypertrophy, Electrocardiography, 03 medical and health sciences, 0302 clinical medicine, Ventricular hypertrophy, Internal medicine, Atrial Fibrillation, medicine, Humans, cardiovascular diseases, Child, education, education.field_of_study, business.industry, High-Throughput Nucleotide Sequencing, Atrial fibrillation, Vascular surgery, medicine.disease, Heart Arrest, Pedigree, Cardiac surgery, 030228 respiratory system, Mutation, Pediatrics, Perinatology and Child Health, Ventricular fibrillation, cardiovascular system, Cardiology, Hypertrophy, Left Ventricular, Wolff-Parkinson-White Syndrome, Supraventricular tachycardia, Cardiology and Cardiovascular Medicine, business |
| الوصف: | We describe the case of a novel PRKAG2 mutation that manifested with a ventricular fibrillation cardiac arrest in a child. The previously healthy 13-year old boy, was subsequently diagnosed with Wolff-White-Parkinson syndrome, mild left ventricular hypertrophy and atrial fibrillation. His father had also been diagnosed in the past with Wolff-White-Parkinson syndrome and developed left ventricular hypertrophy. A novel heterozygous likely pathogenic variant, c.911C>G, p.Ala304Gly was identified in the father and his son, which is absent from population databases. PRKAG2 gene variants have previously been shown to cause a familial syndrome of ventricular hypertrophy, ventricular pre-excitation, supraventricular tachycardia, and conduction abnormalities. However, to the best of our knowledge, this is the first description of this rare syndrome manifesting with a more severe phenotype in a second generation relative within the same family. |
| تدمد: | 1432-1971 0172-0643 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f8f4ee6c0cce09f4894e3153326e255 https://doi.org/10.1007/s00246-019-02245-6 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....2f8f4ee6c0cce09f4894e3153326e255 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 14321971 01720643 |
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