Idiopathic infantile arterial calcification: The spectrum of clinical presentations

Pediatric and Developmental Pathology

Volumn 11, Issue 5, 2008, Pages 405-415

  Chong, Curtis R ^a   Hutchins, Grover M ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DEPARTMENT OF PATHOLOGY   (United States)

Author keywords

Arterial calcification; Cardiomegaly; Hydrops fetalis; Idiopathic infantile arterial calcification; IIAC; Sudden infant death

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE;

ARTERY CALCIFICATION; ARTICLE; AUTOPSY; CARDIOMEGALY; CASE REPORT; CLINICAL FEATURE; CORONARY ARTERY; FETUS HYDROPS; FEVER; HEART FAILURE; HEART INFARCTION; HUMAN; HUMAN TISSUE; HYDRAMNIOS; INFANT; INFANTILE CALCIFYING ARTERIOPATHY; IRRITABILITY; LUNG ARTERY; MALE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SMOOTH MUSCLE; SPLEEN ARTERY; TESTIS; THYROID GLAND; VOMITING;

ARTERIES; CALCINOSIS; CARDIOMEGALY; FATAL OUTCOME; HEART FAILURE; HUMANS; HYDROPS FETALIS; INFANT, NEWBORN; MALE; MYOCARDIAL INFARCTION; VASCULAR DISEASES;

EID: 55849138312     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/07-06-0297.1     Document Type: Article

References (58)

1. Moran JJ. Idiopathic arterial calcification of infancy: a clinicopathologic study. Pathol Annu 1975;10:393-417.
2. Saigal G, Azouz EM. The spectrum of radiologic findings in idiopathic arterial calcification of infancy: pictorial essay. Can Assoc Radiol J 2004;55:102-107.
3. Singleton EB, Merten DF. An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition. Pediatr Radiol 1973;1:2-7.
4. Gay BB Jr, Kuhn JP. A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome). Radiology 1976;118:389-395.
5. Weens HS, Marin CA. Infantile arteriosclerosis. Radiology 1956;67:168-174.
6. Juul S, Ledbetter D, Wight TN, Woodrum D. New insights into idiopathic infantile arterial calcinosis: three patient reports. Am J Dis Child 1990;144:229-233.
7. Spear R, Mack LA, Benedetti TJ, Cole RE. Idiopathic infantile arterial calcification: in utero diagnosis. J Ultrasound Med 1990;9:473-476.
8. Stuart G, Wren C, Bain H. Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate. Br Heart J 1990;64:156-159.
9. 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;92:401-405.
10. Sholler GF, Yu JS, Bale PM, Hawker RE, Celermajer JM, Kozlowski K. Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. J Pediatr 1984;105:257-260.
11. Durante G. Athérome cogénital de l'aorte et de l'artere pulmonaire. Bull mém Soc anat de Paris 1899;74:97.
12. Bryant JH, White WH. A case of calcification of the arteries and obliterative endarteritis associated with hydronephrosis in a child aged 6 months. Guys Hosp Rep 1901;55:17.
13. Anderson KA, Burbach JA, Fenton LJ, Jaqua RA, Barlow JF. Idiopathic arterial calcification of infancy in newborn siblings with unusual light and electron microscopic manifestations. Arch Pathol Lab Med 1985;109:838-842.
14. Bacon JF. Arterial calcification in infancy. JAMA 1964;188:933-935.
15. Baggenstoss AH, Keith HM. Calcification of the arteries of an infant. J Pediatr 1941;18:95-102.
16. Field MH. Medial calcification of the arteries of infants. Arch Pathol 1946;42:607.
17. Witzleben CL. Idiopathic infantile arterial calcification: a misnomer? Am J Cardiol 1970;26:305-309.
18. Schinke T, Karsenty G. Vascular calcification: a passive process in need of inhibitors. Nephrol Dial Transplant 2000;15:1272-1274.
19. Rutsch F, Vaingankar S, Johnson K, et al. PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. Am J Pathol 2001;158:543-554.
20. Rutsch F, Ruf N, Vaingankar S, et al. Mutations in ENPP1 are associated with "idiopathic" infantile arterial calcification. Nat Genet 2003;34:379-381.
21. Ruf N, Uhlenberg B, Terkeltaub R, Nurnberg P, Rutsch F. The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). Hum Mutat 2005;25:98.
22. Oppenheimer EH. Partial atresia of the main branches of the pulmonary artery occurring in infancy and accompanied by calcification of the pulmonary artery and aorta. Bull Johns Hopkins Hosp 1938;63:261-277.
23. Cheng KS, Chen MR, Ruf N, Lin SP, Rutsch F. Generalized arterial calcification of infancy: different clinical courses in two affected siblings. Am J Med Genet A 2005;136:210-213.
24. Wax JR, Blackstone J, Pinette MG, Cartin A. Hepatic vascular calcification: an early second trimester sonographic feature of idiopathic infantile arterial calcinosis. Am J Obstet Gynecol 2001;185:1267-1268.
25. Eronen M, Pohjavuori M, Heikkila P. Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. Pediatr Cardiol 2001;22:167-169.
26. 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;121:930-933.
27. Ciana G, Trappan A, Bembi B, et al. Generalized arterial calcification of infancy: two siblings with prolonged survival. Eur J Pediatr 2006;165:258-263.
28. Crade M, Lewis DF, Nageotte MP. In utero appearance of idiopathic infantile arterial calcification: ultrasound study of a 28-week fetus. Ultrasound Obstet Gynecol 1991;1:284-285.
29. Nagar AM, Hanchate V, Tandon A, Thakkar H, Chaubal NG. Antenatal detection of idiopathic arterial calcification with hydrops fetalis. J Ultrasound Med 2003;22:653-659.
30. Levine JC, Campbell J, Nadel A. Image in cardiovascular medicine: prenatal diagnosis of idiopathic infantile arterial calcification. Circulation 2001;103:325-326.
31. Azancot A, Diehl R, Dorgeret S, et al. Isolated pericardial effusion in the human fetus: a report of three cases. Prenat Diagn 2003;23:193-197.
32. Muller KM, Tiwisina M, Blaschke R, Bassewitz DB. Structural analysis of pulmonary vascular changes in a case of infantile calcifying arteriopathy. Beitr Pathol 1976;157:84-92.
33. Ivemark BI, Lagergren C, Ljungqvist A. Generalized arterial calcification associated with hydramnios in two stillborn infants. Acta Paediatrica Suppl 1962;135:103-110.
34. Jones DE, Pritchard KI, Gioannini CA, Moore DT, Bradford WD. Hydrops fetalis associated with idiopathic arterial calcification. Obstet Gynecol 1972;39:435-440.
35. Thomas WA, Lee KT, McGavran MH, Rabin ER. Endocardial fibroelastosis in infants associated with thrombosis and calcification of arteries and myocardial infarcts. N Engl J Med 1956;255:464-468.
36. Prior JT, Bergstrom VW. Generalized arterial calcification in infants. Am J Dis Child 1948;76:91-101.
37. Stanley RJ, Edwards WD, Rommel DA, Smithson WA. Idiopathic arterial calcification of infancy with unusual clinical presentations in sisters. Am J Cardiovasc Pathol 1988;2:241-245.
38. 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;10:225-233.
39. Carles D, Serville F, Dubecq JP, Alberti EM, Horovitz J, Weichhold W. Idiopathic arterial calcification in a stillborn complicated by pleural hemorrhage and hydrops fetalis. Arch Pathol Lab Med 1992;116:293-295.
40. Raphael SS, Horne WI, Hyde TA. Arterial medial calcification of infancy in brothers. Can Med Assoc J 1970;103:290-293.
41. Saetung P, Punyathunya R. Idiopathic arterial calcification of infancy: a case report. J Med Assoc Thai 1995;78:369-373.
42. Perry LW, Scott LP. Coronary thrombosis: a report of a case in an infant 11 months of age. J Pediatr 1946;28:478-480.
43. Hamazaki M. Idiopathic arterial calcification in a 3-month-old child, associated with myocardial infarction. Acta Pathol Jpn 1980;30:301-308.
44. Stryker WA. Arterial calcification in infancy with special reference to the coronary arteries. Am J Pathol 1946;22:1007-1031.
45. Chipman CD. Calcific sclerosis of coronary arteries in an infant. Can Med Assoc J 1960;83:955-957.
46. Gleason MM, Weber HS, Cyran SE, Baylen BG, Myers JL. Idiopathic infantile arterial calcinosis: intermediate-term survival and cardiac sequelae. Am Heart J 1994;127:691-695.
47. Ciana G, Colonna F, Forleo V, Brizzi F, Benettoni A, de Vonderweid U. Idiopathic arterial calcification of infancy: effectiveness of prostaglandin infusion for treatment of secondary hypertension refractory to conventional therapy: case report. Pediatr Cardiol 1997;18:67-71.
48. van der Sluis IM, Boot AM, Vernooij M, Meradji M, Kroon AA. Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up. Eur J Pediatr 2006;165:590-593.
49. Numakura C, Yamada M, Ariyasu D, et al. Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification. J Bone Miner Metab 2006;24:48-52.
50. Van Reempts PJ, Boven KJ, Spitaels SE, Roodhooft AM, Vercruyssen EL, Van Acker KJ. Idiopathic arterial calcification of infancy. Calcif Tissue Int 1991;48:1-6.
51. Thiaville A, Smets A, Clercx A, Perlmutter N. Idiopathic infantile arterial calcification: a surviving patient with renal artery stenosis. Pediatr Radiol 1994;24:506-508.
52. Rutsch F, Schauerte P, Kalhoff H, Petrarulo M, August C, Diekmann L. Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification. Acta Paediatr 2000;89:1265-1269.
53. Vera J, Lucaya J, Garcia Conesa JA, Aso C, Balaguer A. Idiopathic infantile arterial calcification: unusual features. Pediatr Radiol 1990;20:585-587.
54. Tran KH, Boechat MI. Idiopathic infantile arterial calcification: imaging evaluation and the usefulness of MR angiography. Pediatr Radiol 2006;36:247-253.
55. Van Dyck M, Proesmans W, Van Hollebeke E, Marchal G, Moerman P. Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement. Eur J Pediatr 1989;148:374-377.
56. Ugrasbul F, Quintos JBQ, Goseco P, et al. Successful therapy for idiopathic infantile arterial calcification with a first generation biphosphonate. Pediatr Res 2000;47:827.
57. Marrott PK, Newcombe KD, Becroft DM, Friedlander DH. Idiopathic infantile arterial calcification with survival to adult life. Pediatr Cardiol 1984;5:119-122.
58. Patel M, Andronikou S, Solomon R, Sinclair P, McCulloch M. Idiopathic arterial calcification in childhood. Pediatr Radiol 2004;34:652-655.