Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management
Aortic diseases requiring surgery in childhood are distinctive and rare. Very few reports in the literature account for the occurrence of multiple thoracic aortic aneurysms in the same pediatric patient because of a genetic cause. We report a rare occurrence of severe thoracic aortic aneurysms (invo...
Guardado en:
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Frontiers Media S.A.
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/18d668e21b294430afefce92a7cb9ec3 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:18d668e21b294430afefce92a7cb9ec3 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:18d668e21b294430afefce92a7cb9ec32021-11-30T17:55:27ZCase Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management2297-055X10.3389/fcvm.2021.756765https://doaj.org/article/18d668e21b294430afefce92a7cb9ec32021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fcvm.2021.756765/fullhttps://doaj.org/toc/2297-055XAortic diseases requiring surgery in childhood are distinctive and rare. Very few reports in the literature account for the occurrence of multiple thoracic aortic aneurysms in the same pediatric patient because of a genetic cause. We report a rare occurrence of severe thoracic aortic aneurysms (involving the ascending, arch and descending aortic segments) with severe aortic insufficiency in a 7-year-old female child secondary to the extremely rare and often lethal genetic disorder, cutis laxa. She was eventually identified as a carrier of a homozygous EFEMP2 (alias FBLN4) mutation. This gene encodes the extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B that leads to severe aortopathy with aneurysm formation and vascular tortuosity. Parents of the child were not known to be consanguineous. Significant symptomatic improvement in the patient could be discerned after timely intervention with the valve-sparing aortic root replacement (David V procedure) and a concomitant aortic arch replacement. This is a unique report with a successful outcome that highlights the occurrence of a rare hereditary aortopathy associated with a high morbidity and mortality, and the importance of an early diagnosis and timely management. It also offers insight to physicians in having a very broad differential and multimodal approach in handling rare pediatric cardio-pathologies with a genetic predisposition.Paul ThomasAparna VenugopalanSiddharth NarayananThomas MathewLakshmi Parvathi Deepti CherukuwadaShilpa ChandranJithu PradeepTimothy P. FitzgibbonsVijo GeorgeFrontiers Media S.A.articleaneurysmaortic diseaseascending aortacutis laxagenetic predispositionautosomal recessiveDiseases of the circulatory (Cardiovascular) systemRC666-701ENFrontiers in Cardiovascular Medicine, Vol 8 (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
aneurysm aortic disease ascending aorta cutis laxa genetic predisposition autosomal recessive Diseases of the circulatory (Cardiovascular) system RC666-701 |
| spellingShingle |
aneurysm aortic disease ascending aorta cutis laxa genetic predisposition autosomal recessive Diseases of the circulatory (Cardiovascular) system RC666-701 Paul Thomas Aparna Venugopalan Siddharth Narayanan Thomas Mathew Lakshmi Parvathi Deepti Cherukuwada Shilpa Chandran Jithu Pradeep Timothy P. Fitzgibbons Vijo George Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management |
| description |
Aortic diseases requiring surgery in childhood are distinctive and rare. Very few reports in the literature account for the occurrence of multiple thoracic aortic aneurysms in the same pediatric patient because of a genetic cause. We report a rare occurrence of severe thoracic aortic aneurysms (involving the ascending, arch and descending aortic segments) with severe aortic insufficiency in a 7-year-old female child secondary to the extremely rare and often lethal genetic disorder, cutis laxa. She was eventually identified as a carrier of a homozygous EFEMP2 (alias FBLN4) mutation. This gene encodes the extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B that leads to severe aortopathy with aneurysm formation and vascular tortuosity. Parents of the child were not known to be consanguineous. Significant symptomatic improvement in the patient could be discerned after timely intervention with the valve-sparing aortic root replacement (David V procedure) and a concomitant aortic arch replacement. This is a unique report with a successful outcome that highlights the occurrence of a rare hereditary aortopathy associated with a high morbidity and mortality, and the importance of an early diagnosis and timely management. It also offers insight to physicians in having a very broad differential and multimodal approach in handling rare pediatric cardio-pathologies with a genetic predisposition. |
| format |
article |
| author |
Paul Thomas Aparna Venugopalan Siddharth Narayanan Thomas Mathew Lakshmi Parvathi Deepti Cherukuwada Shilpa Chandran Jithu Pradeep Timothy P. Fitzgibbons Vijo George |
| author_facet |
Paul Thomas Aparna Venugopalan Siddharth Narayanan Thomas Mathew Lakshmi Parvathi Deepti Cherukuwada Shilpa Chandran Jithu Pradeep Timothy P. Fitzgibbons Vijo George |
| author_sort |
Paul Thomas |
| title |
Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management |
| title_short |
Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management |
| title_full |
Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management |
| title_fullStr |
Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management |
| title_full_unstemmed |
Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management |
| title_sort |
case report: occurrence of severe thoracic aortic aneurysms (involving the ascending, arch, and descending segments) as a result of fibulin-4 deficiency: a rare pathology with successful management |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/18d668e21b294430afefce92a7cb9ec3 |
| work_keys_str_mv |
AT paulthomas casereportoccurrenceofseverethoracicaorticaneurysmsinvolvingtheascendingarchanddescendingsegmentsasaresultoffibulin4deficiencyararepathologywithsuccessfulmanagement AT aparnavenugopalan casereportoccurrenceofseverethoracicaorticaneurysmsinvolvingtheascendingarchanddescendingsegmentsasaresultoffibulin4deficiencyararepathologywithsuccessfulmanagement AT siddharthnarayanan casereportoccurrenceofseverethoracicaorticaneurysmsinvolvingtheascendingarchanddescendingsegmentsasaresultoffibulin4deficiencyararepathologywithsuccessfulmanagement AT thomasmathew casereportoccurrenceofseverethoracicaorticaneurysmsinvolvingtheascendingarchanddescendingsegmentsasaresultoffibulin4deficiencyararepathologywithsuccessfulmanagement AT lakshmiparvathideepticherukuwada casereportoccurrenceofseverethoracicaorticaneurysmsinvolvingtheascendingarchanddescendingsegmentsasaresultoffibulin4deficiencyararepathologywithsuccessfulmanagement AT shilpachandran casereportoccurrenceofseverethoracicaorticaneurysmsinvolvingtheascendingarchanddescendingsegmentsasaresultoffibulin4deficiencyararepathologywithsuccessfulmanagement AT jithupradeep casereportoccurrenceofseverethoracicaorticaneurysmsinvolvingtheascendingarchanddescendingsegmentsasaresultoffibulin4deficiencyararepathologywithsuccessfulmanagement AT timothypfitzgibbons casereportoccurrenceofseverethoracicaorticaneurysmsinvolvingtheascendingarchanddescendingsegmentsasaresultoffibulin4deficiencyararepathologywithsuccessfulmanagement AT vijogeorge casereportoccurrenceofseverethoracicaorticaneurysmsinvolvingtheascendingarchanddescendingsegmentsasaresultoffibulin4deficiencyararepathologywithsuccessfulmanagement |
| _version_ |
1718406365211262976 |