Idiopathic infantile arterial calcification history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Overview
Idiopathic arterial calcification of infancy should always be considered in infants and children presenting with hypertension, cardiac failure, or sudden death.[1] Clinical presentation is variable. First symptoms usually occur at birth but can take place in the first 6 months of life or in utero.[2]
History and Symptoms
- Decreased fetal activity
- Gestation with an antenatal diagnosis of hydrops fetalis[3][4]
- Polyhydramnios
- Low biophysical profile
- Marked cyanosis
- Edema[5]
- Severe hypertension[6]
- No or fade pulses
- Refusal of feeds[7]
- Tachypnea
- Vomiting
- Abdominal distension
- General arterial rigidity[8]
- Cardiac failure (most common clinical finding)
- Strain pattern
- Dilated and hypertrophied ventricles
- Extramedullary hematopoiesis of liver [9]
- Hypertrophy of myocardium
- Bright and hyper-reflective myocardium[10]
- Periarticular calcifications in the wrists, ears, shoulders, ankles and hip[11][12]
- Heart usually looks structurally normal
- Cardiomegaly and pulmonary plethora[10]
- Diffuse arterial calcification involving aorta, carotid, cerebral, renal, mesenteric and cardiac arteries
- Echo-dense aortic annulus, ascending aorta, transverse arch, descending aorta, main pulmonary artery, and coronary arteries unusually.[13]
- Abdominal ultrasound can reveal hepatosplenomegaly, ascites, renal echogenicity and diffused arterial calcifications involving the aorta, common iliac, splenic, and renal arteries, as well as peritoneal calcifications involving the visceral peritoneum overlying the liver and intestine
- Brain ultrasound can show dilated lateral ventricles, poorly developed corpus callosum, and leukomalacia
- Echocardiogram can reveal a structurally normal heart, normal ventricular function, however mild concentric ventricular hypertrophy and multiple intracardiac as well as vascular calcifications[3]
- Idiopathic arterial calcification of infancy should be suspected when there is hyperechogenicity of vessel walls, evidence ofpolyhydramnios or a past history of early neonatal deaths.[14]
- DNA testing can identify one of the mutations responsible for the condition[15]
References
- ↑ Hault, Kathrin; Sebire, Neil J.; Ho, Siew Y.; Sheppard, Mary N. (2008). "The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy". Cardiology in the Young. 18 (6): 624–7. doi:10.1017/S1047951108003168. PMID 18842162.
- ↑ Chong, CR.; Hutchins, GM. "Idiopathic infantile arterial calcification: the spectrum of clinical presentations". Pediatr Dev Pathol. 11 (5): 405–15. doi:10.2350/07-06-0297.1. PMID 17990935.
- ↑ 3.0 3.1 Abu-Asbeh, J; Khan, J; Shallal, A (2006). "Idiopathic infantile arterial calcification associated with leukomalacia". Journal of the Arab Neonatology Forum. 3 (1): 15–9.
- ↑ Nagar, Arpit M.; Hanchate, Vijay; Tandon, Ankit; Thakkar, Hemangini; Chaubal, Nitin G. (2003-06-01). "Antenatal Detection of Idiopathic Arterial Calcification With Hydrops Fetalis". Journal of Ultrasound in Medicine. 22 (6): 653–9. PMID 12795564.
- ↑ Maayan, Ch.; Peleg, O.; Eyal, F.; Mogle, P.; Rosenmann, E.; Ziv, J. Bar (1984). "Idiopathic infantile arterial calcification: A case report and review of the literature". European Journal of Pediatrics. 142 (3): 211–5. doi:10.1007/BF00442452. PMID 6468446.
- ↑ Milner, Laurence S.; Heitner, René; Thomson, Peter D.; Levin, Solomon E.; Rothberg, Alan D.; Beale, Peter; Ninin, Daniel T. (1984). "Hypertension as the major problem of idiopathic arterial calcification of infancy". The Journal of Pediatrics. 105 (6): 934–8. doi:10.1016/S0022-3476(84)80080-3. PMID 6502343.
- ↑ Hunt, A. C.; Leys, D. G. (1957). "Generalized Arterial Calcification of Infancy". BMJ. 1 (5015): 385–6. doi:10.1136/bmj.1.5015.385. PMC 1974337. PMID 13396267.
- ↑ Thiaville, A.; Smets, A.; Clercx, A.; Perlmutter, N. (1994). "Idiopathic infantile arterial calcification: A surviving patient with renal artery stenosis". Pediatric Radiology. 24 (7): 506–8. doi:10.1007/BF02015014. PMID 7885787.
- ↑ Sharmila, N.; Prashant, S. Joshi; Ravikumar, Vani (2010). "Idiopathic Infantile arterial calcification–A Very rare case". Online Journal of Health and Allied Sciences. 9 (1). ISSN 0972-5997. Unknown parameter
|month=ignored (help) - ↑ 10.0 10.1 Inwald, D P; Yen Ho, S; Shepherd, M N; Daubeney, P E F (2006). "Idiopathic infantile arterial calcification presenting as fatal hypertensive cardiomyopathy". Archives of Disease in Childhood. 91 (11): 928. doi:10.1136/adc.2006.103093. PMC 2082956. PMID 17056867.
- ↑ Vera, J.; Lucaya, J.; Garcia Conesa, J. A.; Aso, C.; Balaguer, A. (1990). "Idiopathic infantile arterial calcification: Unusual features". Pediatric Radiology. 20 (8): 585–7. doi:10.1007/BF02129060. PMID 2251001.
- ↑ Conn, Jessica; Hussaini, Shaheen; Greenberg, S. Bruce; Vanderzalm, Theodora; Klein, Sarah G. "Idiopathic Arterial Calcification of Infancy" (PDF). Little Rock, Arkansas: University of Arkansas for Medical Sciences and Arkansas Children's Hospital.
- ↑ Levine, J. C.; Campbell, J.; Nadel, A. (2001). "Prenatal Diagnosis of Idiopathic Infantile Arterial Calcification". Circulation. 103 (2): 325–6. doi:10.1161/01.CIR.103.2.325. PMID 11208697.
- ↑ Sundaram, S; Kuruvilla, S; Thirupuram, S (2004). "Idiopathic arterial calcification of infancy - a case report". Images in paediatric cardiology. 6 (1): 6–12. PMC 3232550. PMID 22368635.
- ↑ Dlamini, Nomazulu; Splitt, Miranda; Durkan, Anne; Siddiqui, Ata; Padayachee, Soundrie; Hobbins, Sue; Rutsch, Frank; Wraige, Elizabeth (2009). "Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications". American Journal of Medical Genetics Part A. 149A (3): 456–60. doi:10.1002/ajmg.a.32646. PMID 19206175.