Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature review
IntroductionGeneralized arterial calcification of infancy (GACI) is a rare cause of infantile heart failure and systemic hypertension with a poor prognosis, characterized by extensive calcification and proliferation of the intimal layer of large and medium sized arteries.Case reportWe present the fi...
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| Format: | Article |
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Frontiers Media S.A.
2022-12-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2022.1032519/full |
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| author | Amalia Fãgãrãşan Amalia Fãgãrãşan Liliana Gozar Liliana Gozar Simina-Elena Rusu Ghiragosian Mircea Murariu Marian Pop Marian Pop Andrei Crauciuc Diana Miclea Carmen Corina Şuteu |
| author_facet | Amalia Fãgãrãşan Amalia Fãgãrãşan Liliana Gozar Liliana Gozar Simina-Elena Rusu Ghiragosian Mircea Murariu Marian Pop Marian Pop Andrei Crauciuc Diana Miclea Carmen Corina Şuteu |
| author_sort | Amalia Fãgãrãşan |
| collection | DOAJ |
| description | IntroductionGeneralized arterial calcification of infancy (GACI) is a rare cause of infantile heart failure and systemic hypertension with a poor prognosis, characterized by extensive calcification and proliferation of the intimal layer of large and medium sized arteries.Case reportWe present the first case report of successful surgical treatment of severe aortic arch obstruction by calcified plaques mimicking severe coarctation of the aorta and the outcome (of bisphosphonate therapy) in a newborn with GACI. Furthermore, we report the identification of a variant in ATP Binding Cassette Subfamily C, Member 6 (ABCC6) gene, possibly associated with severe early-onset manifestations of GACI.ConclusionThis case report highlights the importance of considering GACI in an infant with heart failure, systemic hypertension, and evidence of increased echogenicity of the arterial vessels. We noted the favorable outcome in improving the aortic calcification in our patient after surgical treatment and bisphosphonates therapy. Early diagnosis and treatment improve the long-term prognosis. A better understanding of this rare genetic disease could lead to new therapeutic strategies. |
| first_indexed | 2024-04-11T05:50:11Z |
| format | Article |
| id | doaj.art-b690145c9f7e473ea9d95ea82d891c35 |
| institution | Directory Open Access Journal |
| issn | 2297-055X |
| language | English |
| last_indexed | 2024-04-11T05:50:11Z |
| publishDate | 2022-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj.art-b690145c9f7e473ea9d95ea82d891c352022-12-22T04:42:06ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2022-12-01910.3389/fcvm.2022.10325191032519Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature reviewAmalia Fãgãrãşan0Amalia Fãgãrãşan1Liliana Gozar2Liliana Gozar3Simina-Elena Rusu Ghiragosian4Mircea Murariu5Marian Pop6Marian Pop7Andrei Crauciuc8Diana Miclea9Carmen Corina Şuteu10Clinic of Pediatric Cardiology, Emergency Institute of Cardiovascular Diseases and Transplantation, Târgu Mureş, RomaniaDepartment of Pediatrics III, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureş, Târgu Mureş, RomaniaClinic of Pediatric Cardiology, Emergency Institute of Cardiovascular Diseases and Transplantation, Târgu Mureş, RomaniaDepartment of Pediatrics III, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureş, Târgu Mureş, RomaniaDepartment of Pediatrics III, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureş, Târgu Mureş, RomaniaClinic of Pediatric Cardiology, Emergency Institute of Cardiovascular Diseases and Transplantation, Târgu Mureş, RomaniaME1 Department, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureş, Târgu Mureş, RomaniaDepartment of Radiology, Emergency Institute for Cardiovascular Diseases and Heart Transplant, Târgu Mureş, RomaniaClinic of Pediatric Cardiology, Emergency Institute of Cardiovascular Diseases and Transplantation, Târgu Mureş, RomaniaDepartment of Medical Genetics, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, RomaniaClinic of Pediatric Cardiology, Emergency Institute of Cardiovascular Diseases and Transplantation, Târgu Mureş, RomaniaIntroductionGeneralized arterial calcification of infancy (GACI) is a rare cause of infantile heart failure and systemic hypertension with a poor prognosis, characterized by extensive calcification and proliferation of the intimal layer of large and medium sized arteries.Case reportWe present the first case report of successful surgical treatment of severe aortic arch obstruction by calcified plaques mimicking severe coarctation of the aorta and the outcome (of bisphosphonate therapy) in a newborn with GACI. Furthermore, we report the identification of a variant in ATP Binding Cassette Subfamily C, Member 6 (ABCC6) gene, possibly associated with severe early-onset manifestations of GACI.ConclusionThis case report highlights the importance of considering GACI in an infant with heart failure, systemic hypertension, and evidence of increased echogenicity of the arterial vessels. We noted the favorable outcome in improving the aortic calcification in our patient after surgical treatment and bisphosphonates therapy. Early diagnosis and treatment improve the long-term prognosis. A better understanding of this rare genetic disease could lead to new therapeutic strategies.https://www.frontiersin.org/articles/10.3389/fcvm.2022.1032519/fullGACIinfantile heart failuresystemic hypertensioninfantABCC6 gene |
| spellingShingle | Amalia Fãgãrãşan Amalia Fãgãrãşan Liliana Gozar Liliana Gozar Simina-Elena Rusu Ghiragosian Mircea Murariu Marian Pop Marian Pop Andrei Crauciuc Diana Miclea Carmen Corina Şuteu Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature review Frontiers in Cardiovascular Medicine GACI infantile heart failure systemic hypertension infant ABCC6 gene |
| title | Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature review |
| title_full | Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature review |
| title_fullStr | Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature review |
| title_full_unstemmed | Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature review |
| title_short | Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant — Case report and literature review |
| title_sort | severe early onset manifestations of generalized arterial calcification of infancy mimicking severe coarctation of the aorta with abcc6 gene variant case report and literature review |
| topic | GACI infantile heart failure systemic hypertension infant ABCC6 gene |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2022.1032519/full |
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