ESPE Abstracts (2019) 92 P1-71

Clinical, Biochemical and Echocardiographic Evaluation of Patients with Congenital Rickets Due to Maternal Vitamin D Deficiency

Atilla Cayir 1, Ali Akyigit2, Ufuk Utku Gullu3, Hasan Kahveci4, Duran Yildiz4, Erdal Kurnaz1, Dogus Vuralli 5, Abdulkadir Kaya6, Huseyin Demirbilek5


1Training and Research Hospital, Department of Pediatric Endocrinology, Erzurum, Turkey. 2Training and Research Hospital, Department of Pediatrics, Erzurum, Turkey. 3Training and Research Hospital, Department of Pediatric Cardiology, Erzurum, Turkey. 4Training and Research Hospital, Department of Neonatology, Erzurum, Turkey. 5Hacettepe University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey. 6Training and Research Hospital, Erzurum, Turkey


Objective: Vitamin deficient (VDD) rickets can manifest with skeletal (hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase and defective bone mineralization) and extra-skeletal findings. There are certain number of case reports and limited number of small scale studies reporting dilated cardiomyopathy due to VDD rickets.

The aim of the present study is to evaluate the clinical, biochemical and echocardiographic features of neonates with congenital rickets due to maternal vitamin D deficiency.

Patients and Methods: In this prospective cross-sectional observational study 148 neonates with the diagnosis of VDD rickets were recruited. Serum calcium, magnesium, albumin, phosphorus, alkaline phosphatase, parathyroid hormone (PTH), and 25(OH)D3 was measured. A low serum calcium elevated PTH and low 25(OH)D3 was defined as VDD rickets. Presentation at postnatal first month was considered as congenital rickets. Echocardiographic evaluation was performed to all patients. Echocardiographic measurement was assessed according to American Echocardiography Association Pediatric Echocardiography guideline. Vitamin D3 and oral calcium were administered to all patients, and a biochemical recovery was achieved in all. Following remission of clinical and biochemical VDD rickets, a control echocardiography was performed.

Results: The study included 148 cases (95 male). 119 out of 148 (80.4%) were presented at the first 72 hours. The presenting laboratory features for VDD rickets, echocardiographic parameters for evaluation of dilated cardiomyopathy at presentation and after treatment were shown in Table 1. In the echocardiographic evaluation, none of patients had dilated cardiomyopathy.

Table 1. Clinical and echocardiographic characteristics of cases
Mean±SD (n=148)
Calcium (mg/dl)7.1±0.5
Phosphorous (mg/dl)6.3±1.2
ALP (U/L)224.0±82.7
PTH (pg/ml)133.6.±79.5
Mg (mg/dl)1.8±0.2
25(OH)D3 (ng/ml)5.5±2.4
Maternal 25(OH)D3 (ng/ml)7.1±3.5
Pre-treatmentPost-treatmentP value
EF (%)69.3± 6.170.6± 5.9>0.05
SF (%)37.8±4.338.2±4.0>0.05
LVEDd (cm)2.02±0.161.94±0.24>0.05
LVESd (cm)1.48±0.121.49±0.14>0.05

Conclusion: To the best of our knowledge, in this largest cohort of patients with congenital rickets due to maternal vitamin D deficiency, the echocardiographic evaluation did not show dilated cardiomyopathy in any of 148 cases, despite all presented with hypocalcemia and vitamin D deficiency. Absence of dilated cardiomyopathy can be attributed to early diagnosis and lack of prolonged exposure to the hypocalcemia. However, the exact underlying aetiology should be extensively investigated in all cases with dilated cardiomyopathy who presented with hypocalcemia and VDD rickets.

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