Idiopathic Infantile Arterial Calcification: A Case Report of Successful Extracorporeal Membrane Oxygenation Support

Deshpande, Shriprasad; Kasniya, Gangajal; Cuadrado, Angel R.; Maher, Kevin

doi:10.5301/ijao.5000544

Cited by 2 publications

(4 citation statements)

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“…In a previously published article, neurologic manifestations were reported in patients with GACI, with magnetic resonance imaging (MRI) proved strokes, gliosis, bilateral occipital necrosis, and cystic encephalomalacia ( 2 ) but no histopathological findings were shown. As miscarriage, hydrops, polyhydramnios, and fetal distress were seen in our and other reported cases ( 3 , 19 ), it can be supposed that GACI might be a favoring factor rather than a consequence of intrauterine infections. On the other hand, in the present case, the mother's paraclinical tests indicated high serum values for anti-CMV IgG and anti- T. gondii IgG, but not for the IgM.…”

Section: Discussionsupporting

confidence: 73%

“…Untreated, death of the infant occurs before the age of 6 months by myocardial ischemia and cardiorespiratory arrest ( 6 , 19 ). In any baby with pulmonary hypertension and hydramnios, GACI should be suspected ( 6 ).…”

Section: Discussionmentioning

confidence: 99%

“…In any baby with pulmonary hypertension and hydramnios, GACI should be suspected ( 6 ). When diagnosed early, by fetal ultrasound, calcium chelator therapy with sodium thiosulfate or other bisphosphonates that solubilize calcium depositions, along with magnesium supplementation might prolong life until adolescence or early adulthood ( 2 , 6 , 17 , 19 ). Although no curative therapy exists, extracorporeal membrane oxygenation along with supportive therapy might be the preferred therapy of choice ( 19 ).…”

Section: Discussionmentioning

confidence: 99%

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Case Report: Coexistence of generalized arterial calcification of infancy (GACI) and maternal infections with cytomegalovirus and Toxoplasma gondii-unexpected fatal complication in a newborn

et al. 2022

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Generalized arterial calcification of infancy (GACI) is an extremely rare autosomal recessive condition characterized by the storage of calcium at the level of internal elastic membrane of arteries. The main consequences are intimal fibrous thickening and arterial occlusion. We present the case of a preterm male infant, born from an improperly dispensed pregnancy. At birth, the newborn presented generalized edema and hypotonia, and abolished heart sounds, without response to stimulation. Despite the mechanical ventilation, the infant died 2 h after birth. The death was clinically presumed to be related to the maternal infection with cytomegalovirus (CMV) and Toxoplasma gondii. The infant's mother affirmed the history of 6 previous miscarriages and a non-consanguineous marriage. At autopsy, microscopic examination showed generalized vasculitis secondary to minimal calcification of the large and medium-sized vessels of the lungs, liver, and tongue. These findings supported the diagnosis of GACI. Hydrothorax, non-infective ascites, and necrosis of the brain parenchyma were also associated. The premature infant died due to tonsillar herniation associated with decreased vessel compliance and refractory pulmonary hypertension thus leading to congestive cardiac failure. CMV was not detected on histopathological assessment nor were signs of any other infections. To the best of our knowledge, this is the first case of GACI occurring in a baby from a mother co-infected with CMV and T. gondii.

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Section: Discussionsupporting

confidence: 73%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Case Report: Coexistence of generalized arterial calcification of infancy (GACI) and maternal infections with cytomegalovirus and Toxoplasma gondii-unexpected fatal complication in a newborn

et al. 2022

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“…Deshpande et al published the first report of successful mechanical support in a patient with GACI, additionally, over time with bisphosphonate therapy, there was a remarkable recovery of cardiac function ( 46 ). Giovannoni et al reported an 18-month-old child with GACI and end-stage myocardial ischemia who underwent successful heart transplantation ( 47 ).…”

Section: Discussionmentioning

confidence: 99%

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

Făgărășan

Gozar

Ghiragosian

et al. 2022

Front. Cardiovasc. Med.

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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.

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Idiopathic Infantile Arterial Calcification: A Case Report of Successful Extracorporeal Membrane Oxygenation Support

Cited by 2 publications

References 11 publications

Case Report: Coexistence of generalized arterial calcification of infancy (GACI) and maternal infections with cytomegalovirus and Toxoplasma gondii-unexpected fatal complication in a newborn

Case Report: Coexistence of generalized arterial calcification of infancy (GACI) and maternal infections with cytomegalovirus and Toxoplasma gondii-unexpected fatal complication in a newborn

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

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