AUTHOR=Fãgãrãşan Amalia , Gozar Liliana , Ghiragosian Simina-Elena Rusu , Murariu Mircea , Pop Marian , Crauciuc Andrei , Miclea Diana , Şuteu Carmen Corina 

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

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=Volume 9 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2022.1032519

DOI=10.3389/fcvm.2022.1032519

ISSN=2297-055X

ABSTRACT=Introduction: Generalized 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 report: We 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 ABCC6 gene, possibly associated with severe early-onset manifestations of GACI. Conclusion: This case report highlights the importance of considering GACI in an infant with heart failure and echo-genic vessels on echocardiography as well as any radiological study.