Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report
Abstract Background Arterial tortuosity syndrome (ATS) (OMIM #208050) is a very rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and predisposition of aneurysms formation in medium and large-caliber arteries, vascular dissection, and ischemic events. To dat...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2022-09-01
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| Series: | Bulletin of the National Research Centre |
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| Online Access: | https://doi.org/10.1186/s42269-022-00938-2 |
| _version_ | 1818017023651741696 |
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| author | Daniel Palanca Arias Ariadna Ayerza Casas Marcos Clavero Adell Cristina Gutiérrez Alonso Marta López Ramón Lorenzo Jiménez Montañés Victoria Estaben Boldova Silvia Izquierdo-Álvarez |
| author_facet | Daniel Palanca Arias Ariadna Ayerza Casas Marcos Clavero Adell Cristina Gutiérrez Alonso Marta López Ramón Lorenzo Jiménez Montañés Victoria Estaben Boldova Silvia Izquierdo-Álvarez |
| author_sort | Daniel Palanca Arias |
| collection | DOAJ |
| description | Abstract Background Arterial tortuosity syndrome (ATS) (OMIM #208050) is a very rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and predisposition of aneurysms formation in medium and large-caliber arteries, vascular dissection, and ischemic events. To date, approximately 100 patients have been reported carrying some of the fewer than 35 causal mutations in the SLC2A10 gene. Case presentation Here we present the clinical and molecular characterization of two new Spanish pediatric ATS patients from two unrelated families in the same city in a short period of time. Due to the knowledge of the pathology through the first case this pathology was suspected from birth in the second case, requesting the directed genetic study. Conclusion In addition to arterial tortuosity and connective tissue features, sequencing analysis revealed the homozygous and heterozygous Frameshift Deletion. Confirm diagnosis in the first few years of life is the most critical for possible life-threatening events and to offer adequate genetic counseling. |
| first_indexed | 2024-04-14T07:21:17Z |
| format | Article |
| id | doaj.art-0417157957944c07beb441a7d4a7bc29 |
| institution | Directory Open Access Journal |
| issn | 2522-8307 |
| language | English |
| last_indexed | 2024-04-14T07:21:17Z |
| publishDate | 2022-09-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Bulletin of the National Research Centre |
| spelling | doaj.art-0417157957944c07beb441a7d4a7bc292022-12-22T02:06:09ZengSpringerOpenBulletin of the National Research Centre2522-83072022-09-014611610.1186/s42269-022-00938-2Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case reportDaniel Palanca Arias0Ariadna Ayerza Casas1Marcos Clavero Adell2Cristina Gutiérrez Alonso3Marta López Ramón4Lorenzo Jiménez Montañés5Victoria Estaben Boldova6Silvia Izquierdo-Álvarez7Servicio de Cardiología Pediátrica, Hospital Universitario Miguel ServetServicio de Cardiología Pediátrica, Hospital Universitario Miguel ServetServicio de Cardiología Pediátrica, Hospital Universitario Miguel ServetServicio de Radiología Infantil, Hospital Universitario Miguel ServetServicio de Cardiología Pediátrica, Hospital Universitario Miguel ServetServicio de Cardiología Pediátrica, Hospital Universitario Miguel ServetServicio de Urgencias, Hospital Nuestra Señora de GraciaServicio de Genética, Hospital Universitario Miguel ServetAbstract Background Arterial tortuosity syndrome (ATS) (OMIM #208050) is a very rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and predisposition of aneurysms formation in medium and large-caliber arteries, vascular dissection, and ischemic events. To date, approximately 100 patients have been reported carrying some of the fewer than 35 causal mutations in the SLC2A10 gene. Case presentation Here we present the clinical and molecular characterization of two new Spanish pediatric ATS patients from two unrelated families in the same city in a short period of time. Due to the knowledge of the pathology through the first case this pathology was suspected from birth in the second case, requesting the directed genetic study. Conclusion In addition to arterial tortuosity and connective tissue features, sequencing analysis revealed the homozygous and heterozygous Frameshift Deletion. Confirm diagnosis in the first few years of life is the most critical for possible life-threatening events and to offer adequate genetic counseling.https://doi.org/10.1186/s42269-022-00938-2Arterial tortuosity syndromeConnective tissue diseasesExomeTransthoracic echocardiographyMagnetic resonance angiographyCase report |
| spellingShingle | Daniel Palanca Arias Ariadna Ayerza Casas Marcos Clavero Adell Cristina Gutiérrez Alonso Marta López Ramón Lorenzo Jiménez Montañés Victoria Estaben Boldova Silvia Izquierdo-Álvarez Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report Bulletin of the National Research Centre Arterial tortuosity syndrome Connective tissue diseases Exome Transthoracic echocardiography Magnetic resonance angiography Case report |
| title | Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report |
| title_full | Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report |
| title_fullStr | Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report |
| title_full_unstemmed | Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report |
| title_short | Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report |
| title_sort | arterial tortuosity syndrome variants in slc2a10 gene in two pediatric patients in the same city of spain a case report |
| topic | Arterial tortuosity syndrome Connective tissue diseases Exome Transthoracic echocardiography Magnetic resonance angiography Case report |
| url | https://doi.org/10.1186/s42269-022-00938-2 |
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