Generalized arterial calcification of infancy—Findings at post-mortem computed tomography and autopsy

Bolster, Ferdia; Ali, Zabiullah; Southall, Pamela; Fowler, David

doi:10.1016/j.forsciint.2015.06.017

Cited by 12 publications

(14 citation statements)

References 28 publications

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“…It presents in infancy as refractory hypertension or cardiac failure and is associated with a poor prognosis [1]. The dystrophic calcification in IIAC leads to decreased vessel compliance and hypertension.…”

Section: Idiopathic Arterial Calcification Of Infancy-review Of Litermentioning

confidence: 99%

“…On review of literature, 200 cases have been reported so far with approximately 85% infants dying within the first 6 months secondary to cardiopulmonary complications [1]. The clinical presentation of this disease can be early (diagnosed in utero or immediately after birth) or late (diagnosed during the first 3-4 months of life) [1].…”

Section: Idiopathic Arterial Calcification Of Infancy-review Of Litermentioning

confidence: 99%

“…The clinical presentation of this disease can be early (diagnosed in utero or immediately after birth) or late (diagnosed during the first 3-4 months of life) [1]. Early diagnosis is done based on prenatal US findings and is associated with a higher survival rate.…”

Section: Idiopathic Arterial Calcification Of Infancy-review Of Litermentioning

confidence: 99%

“…Increased echogenicity of the aorta and outflow tract (representing calcifications) along with narrowing of the coronary artery may be noted on ECHO and warrant closer follow up and monitoring. Late onset IIAC presents with non-specific findings such as respiratory distress, cyanosis, poor feeding, vomiting, and failure to thrive [1].…”

Section: Us and Histology At The Time Of Autopsymentioning

confidence: 99%

“…It is characterized by extensive arterial calcification of large and medium sized arteries and is generally associated with poor prognosis [1]. It is important that physicians be aware of this condition because it can be suspected prenatally and early diagnosis is associated with improvement in survival rates.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Idiopathic Calcification of Infancy-Case Report and Review of Literature

2016

J Paediatr Child Care

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Section: Idiopathic Arterial Calcification Of Infancy-review Of Litermentioning

confidence: 99%

Section: Idiopathic Arterial Calcification Of Infancy-review Of Litermentioning

confidence: 99%

Section: Idiopathic Arterial Calcification Of Infancy-review Of Litermentioning

confidence: 99%

Section: Us and Histology At The Time Of Autopsymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Idiopathic Calcification of Infancy-Case Report and Review of Literature

2016

J Paediatr Child Care

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Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation

Ali

Votava‐Smith

et al. 2018

Osteoporos Int

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Generalized arterial calcification of infancy (GACI) is a rare genetic disorder with high infantile mortality, described to be due to ENPP1, and less commonly ABCC6 mutations. Bisphosphonate treatment has been described to improve survival in ENPP1-positive GACI patients, but few studies have described bisphosphonate treatment in ABCC6-positive patients. Without therapy, patients will die before 6 months of age. Our patient is now 3 years old, former recipient twin of twin-to-twin transfusion syndrome (TTTS). Initial fetal echocardiogram at 19 weeks showed calcifications of the ascending aorta and pulmonary artery (PA). She underwent utero laser therapy, and despite resolution of the TTTS, her follow-up scans showed progressive calcification of the aorta and PA. Postnatal echocardiogram showed calcification and supravalvar stenosis of the aorta and PA. CT on day of life 6 showed calcifications in the PAs, aortic arch, and descending aorta. Quantification of valvular calcification can be difficult; in our patient, increasing outflow tract gradient on echocardiogram was used to monitor disease progression. Molecular testing revealed an ABCC6 gene mutation. She was started on weekly IV pamidronate (0.1-0.3 mg/kg/week) on day 8 of life then transitioned to oral etidronate (15-20 mg/kg/day). Given progressive supravalvar aortic and pulmonary stenosis, she underwent surgical repair with patch augmentation of the PA and ascending aorta at 4 months old. She has done well post-operatively, continuing on enteral bisphosphonate therapy with no side effects to date. Her identical twin was confirmed to have the same mutation and remains asymptomatic with no calcifications. Aggressive bisphosphonate therapy should be started as soon as possible in patients with infantile arterial calcinosis due to ABCC6 or ENPP1 mutations. Echocardiographic evaluation can be used to monitor disease progression by arterial gradients. Molecular testing is also essential to evaluate for possible co-morbidities in these patients and pregnancy management for the future.

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