A case of antenatal diagnosis and postnatal characteristics of ıdiopathic ınfantile arterial calcification (IIAC and prenatal diagnosis)

Pala, Halil Gürsoy; Bilgili, Gökmen; Ülkümen, Burcu Artunç; Alkan, Fatoş; Coşkun, Şenol

doi:10.3109/01443615.2015.1133577

Cited by 1 publication

(1 citation statement)

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“…The last systematic review by Mastrolia et al in 2015 [5] summarized 23 prenatally diagnosed cases [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] of IIAC including two from their own institution. Our review has revealed an additional seven since then [25][26][27][28][29][30][31]. To the best of our knowledge there are two reports of similarly early prenatal detection of IIAC in the second trimester without hydrops before 24 weeks as in both our first two cases.…”

Section: Discussionmentioning

confidence: 57%

Antenatal diagnosis of idiopathic infantile arterial calcification (IIAC): a single centre experience and review of the literature

Mulcahy

Mone

McAuliffe

et al. 2019

J Congenit Heart Dis

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Background: Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disorder characterised by extensive calcification and proliferation of the intimal layer of the large and medium size arteries. Case presentation: We report 4 antenatal cases of IIAC in our institution over a 10 year period from 2006 to 2016. Clinical outcomes, prenatal ultrasound findings, radiological and postmortem investigations are summarized. A literature review of this rare autosomal recessive disease is presented. The possible aetiology of this condition and the role of biphosphonates in the management of this condition are discussed. Conclusions: This case series highlights the frequent poor outcome of IIAC, consistent with the literature, the phenotypical variability of the disease even within the same family and the role of biphosphonates in one prenatally diagnosed case. Hyperechogenicity of the fetal vasculature detected on prenatal ultrasound particularly if there is a history of IIAC in an index pregnancy may aid earlier prenatal diagnosis. A multidisciplinary approach to parental counselling can then occur in order to optimise a plan of care in the neonatal period.

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