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The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy

  • Kathrin Hault (a1), Neil J. Sebire (a2), Siew Y. Ho (a3) and Mary N. Sheppard (a1)

Abstract

Idiopathic calcification of the coronary arteries is a rare hereditary condition of infancy. Complications include cardiac ischaemia, cardiac failure, and systemic hypertension. We present three patients with this condition, which in each case masqueraded as other cardiac diseases, with no indication of the specific diagnosis prior to autopsy.

A 5 month old female presented with respiratory failure and hypertension and died within 24 hours of admission. All the coronary arteries were thick-walled, with narrow lumens. The aorta, great vessels, and renal arteries also showed thickening of the wall. Histology confirmed calcium in the internal elastic lamina of all vessels. The second patient was a female baby of 2 months, diagnosed with a large ventricular septal defect. She died suddenly prior to surgery. At autopsy, the orifice of the right coronary artery was reduced to a pinhole. The coronary arteries showed white patches of calcification, with associated ventricular infarction. The third patient was an 11 year old female who presented with cardiac failure, and had been diagnosed with dilated cardiomyopathy. Two weeks later, she died suddenly. The coronary arteries were patent, but firm with calcification and narrowed, with associated ventricular infarction. Our experience shows that idiopathic arterial calcification of infancy should always be considered in infants and children presenting with hypertension, cardiac failure, or sudden death.

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Corresponding author

Correspondence to: Dr Mary N. Sheppard, Consultant Histopathologist, CRY Centre for Cardiac Pathology, Royal Brompton Hospital, Department of Histopathology, Sydney Street, London, SW3 6NP, United Kingdom. Tel: +44 207 351 8424; Fax: +44 207 351 8293; E-mail: m.sheppard@rbht.nhs.uk

References

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1.Moran, JJ, Becker, SM. Idiopathic arterial calcification of infancy; report of 2 cases occurring in siblings, and review of the literature. Am J Clin Pathol 1959; 31: 517529.
2.Meradji, M, de Villeneuve, VH, Huber, J, de Bruijn, WC, Pearse, RG. Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment. J Pediatr 1978; 92: 401405.
3.Moran, JJ. Idiopathic arterial calcification of infancy: a clinicopathologic study. Pathol Annu 1975; 10: 393417.
4.Farquhar, J, Makhseed, N, Sargent, M, Taylor, G, Osiovich, H. Idiopathic infantile arterial calcification and persistent pulmonary hypertension. Am J Perinatol 2005; 22: 121125.
5.Samson, LM, Ash, KM, Murdison, KA. Aorto-pulmonary calcification: an unusual manifestation of idiopathic calcification of infancy evident antenatally. Obstet Gynecol 1995; 85: 863865.
6.Marrott, PK, Newcombe, KD, Becroft, DM, Friedlander, DH. Idiopathic infantile arterial calcification with survival to adult life. Pediatr Cardiol 1984; 5: 119122.
7.Sebire, NJ, Ramsay, A, Sheppard, MN. Idiopathic arterial calcification presenting with cardiac failure and sudden death in an 11-year-old girl. Pediatr Dev Pathol 2002; 5: 412414.
8.Meurman, L, Somersalo, O, Tuuteri, L. Sudden death in infancy caused by idiopathic arterial calcification. Ann Paediatr Fenn 1965; 11: 1924.
9.Bellah, RD, Zawodniak, L, Librizzi, RJ, Harris, MC. Idiopathic arterial calcification of infancy: prenatal and postnatal effects of therapy in an infant. J Pediatr 1992; 121: 930933.
10.Greenberg, SB, Gibson, J. New findings in idiopathic arterial calcification of infancy detected by MDCT. AJR Am J Roentgenol 2005; 185: 530532.
11.Rutsch, F, Ruf, N, Vaingankar, S, et al. Mutations in ENPP1 are associated with ‘idiopathic’ infantile arterial calcification. Nat Genet 2003; 34: 379381.
12.van der Sluis, IM, I, Boot, AM, Vernooij, M, Meradji, M, Kroon, AA. Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up. Eur J Pediatr 2006; 165: 590593.
13.Glatz, AC, Pawel, BR, Hsu, DT, Weinberg, P, Chrisant, MR. Idiopathic infantile arterial calcification: Two case reports, a review of the literature and a role for cardiac transplantation. Pediatr Transplant 2006; 10: 225233.

Keywords

The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy

  • Kathrin Hault (a1), Neil J. Sebire (a2), Siew Y. Ho (a3) and Mary N. Sheppard (a1)

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