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Antenatal detection of idiopathic arterial calcification with hydrops fetalis
Arpit M Nagar1, Vijay Hanchate, Ankit Tandon
1Department of Radiology, King Edward Memorial Hospital, Parel, Mumbai 400012, India. arpitnagar@hotmail.com
Insights
Idiopathic arterial calcification of infancy (IACI) is a rare, fatal condition causing arterial calcification. This report details an early prenatal diagnosis, contributing to the limited understanding of antenatal detection for this severe infantile disease.
Area of Science:
- Pediatric Cardiology
- Neonatology
- Medical Genetics
Background:
- Idiopathic arterial calcification of infancy (IACI), also known as occlusive infantile arterial calcification, is a rare autosomal recessive disorder.
- It is characterized by widespread arterial calcification and is typically fatal within the first year of life, often due to cardiac complications.
Observation:
- Most diagnoses are made postmortem, with few antemortem diagnoses reported via imaging.
- Clinical presentation is variable, commonly including respiratory distress, cardiac failure, and refractory hypertension.
Findings:
- This report presents a case of prenatal diagnosis of IACI, representing one of the earliest antenatal detections documented.
- The case contributes to the scarce literature on identifying IACI before birth.
Implications:
- Early prenatal diagnosis of IACI may allow for timely intervention and management strategies.
- Further research into antenatal detection methods and potential treatments for IACI is warranted.
Abstract:
Idiopathic arterial calcification of infancy, or occlusive infantile arterial calcification, is a rare cause of arterial calcification. This condition is inherited as an autosomal recessive pattern, which is almost always fatal. In most of the 100 cases described in the literature, the diagnosis was made at autopsy; a few cases have been reported in which an antemortem diagnosis was made on the basis of radiographic or sonographic demonstration of arterial calcification. The clinical characteristics are extremely variable, and respiratory distress with cardiac failure is the most common finding. Hypertension that is refractory to treatment is present in most cases. Most infants die before the age of 6 months, and very few have survived for more than 1 year. Mortality in this condition is caused by myocardial ischemia due to coronary artery involvement or refractory cardiac failure. The purpose of this report is to describe the prenatal diagnosis of idiopathic arterial calcification. Fewer than 10 cases of antenatal detection of this condition have been reported in the literature. This case is 1 of 2 cases with the earliest diagnosis of this condition so far (Table 1).