Frequency of Congenital Cardiac Malformations in the Neonates with Congenital Hypothyroidism

Authors

1 Hospital, School of Medicine, Department of Pediatrics, pediatric cardiology, Arak University of Medical Sciences, Arak, Iran.

2 Amirkabir Hospital, School of Medicine, Arak University of Medical Sciences, Arak, Iran

3 Instructor in Biostatistics, Department of Biostatistics, Faculty of Medicine, Arak University of Medical Sciences, Arak, Ir

4 Amirkabir Hospital, Department of Pediatrics, School of Medicine, Arak University of Medical Sciences, Arak, Iran

5 Department of Biostatistics, School of Medicine, Arak University of Medical Sciences, Arak, Iran

Abstract

Background: Congenital hypothyroidism (CH) is a prevalent disorder, which is associated with several other congenital anomalies, especially cardiac diseases. The present study aimed to determine the prevalence of congenital heart disease (CHD) in the neonates with CH.
Methods: This cross-sectional study was conducted on two groups of 79 subjects to compare the type and frequency of congenital cardiac anomalies between the neonates with the confirmed diagnosis of CH (TSH≥10 mlU/ml) and healthy infants. The study was performed in Kowsar Clinic affiliated to Arak University of Medical Sciences, Iran. Level of thyroid-stimulating hormone (TSH) was measured within days 3-7 of birth using the samples collected from the soles of the neonates. In addition, all the subjects were evaluated for the presence of CHD using echocardiography before day 30 of life.
Results: In total, 79 neonates were enrolled in the study. The case group consisted of 34 females (43.04%) and 45 males (53.96%), and the control group consisted of 43 females (54.43%) and 36 males (45.57%). The groups were matched in terms of age and gender. Cardiac involvement was only detected in the case group (CH infants) with the prevalence of 22.7%. Among the non-cyanotic malformations observed in the case group, one infant had ventricular septal defect (1.3%), eight infants had atrial septal defect (10.1%), three infants had patent ductus arteriosus (3.8%), three neonates had endocardial cushion defect (3.8%), two neonates had pulmonary stenosis (2.5%), and one infant had dilated cardiomyopathy (1.3%). Moreover, six neonates were diagnosed with Down syndrome. All the infants with endocardial cushion defect (n=3) had Down syndrome, and no significant association was observed between TSH and thyroxine (T4) in the presence of CHD.
Conclusion: According to the results, the high prevalence of cardiac malformations in the neonates with CH necessitated cardiac examinations using echocardiography.

Keywords


1. Hinton CF, Harris KB, Borgfeld L, DrummondBorg M, Eaton R, Lorey F, et al. Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas. Pediatrics. 2010; 125: S37-47.

2. Dorreh F, Chaijan PY, Javaheri J, Zeinalzadeh AH. Epidemiology of congenital hypothyroidism in Markazi Province, Iran. J Clin Res Pediatr Endocrinol. 2014; 6(2):105-10.

 3. Kreisner E, Neto EC, Gross JL. High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism. Thyroid. 2005; 15(2):165-9.

4. Olivieri A, Stazi M, Mastroiacovo P, Fazzini C, Medda E, Spagnolo A, et al. A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998). J Clin Endocrinol Metab. 2002; 87(2):557-62.

 5. Sabri M, Shahriari H, Hashemipour M. Congenital cardiac malformations in congenital hypothyroid patients Isfahan. J Res Med Sci. 2006; 11(4): 234-9.

6. Razavi Z, Mohammadi L. Permanent and transient congenital hypothyroidism in hamadan west province of Iran. Int J Endocrinol Metab. 2016; 14(4):e38256.

7. Al Jurayyan N, Al Herbish A, El Desouki M, Al Nuaim A, Abo-Bakr A, Husain A. Congenital anomalies in infants with congenital hypothyroidism: is it a coincidental or an associated finding? Hum Hered. 1997; 47(1):33-7.

8. Stoll C, Dott B, Alembik Y, Koehl C. Congenital anomalies associated with congenital hypothyroidism. Ann Genet. 1999; 42(1): 17-20.

 9. Law WY, Bradley DM, Lazarus JH, John R, Gregory JW. Congenital hypothyroidism in Wales (1982- 1993): demographic features, clinical presentation and effects on early neurodevelopment. Clin Endocrinol (Oxf). 1998; 48(2):201-7.

10. Gu Y, Harada S, Kato T, Inomata H, Aoki K, Hirahara F. Increased incidence of extrathyroidal congenital malformations in Japanese patients with congenital hypothyroidism and their relationship with Down syndrome and other factors. Thyroid. 2009; 19(8):869-79.

 11. AL-Biltagi MA. Echocardiography in children with Down syndrome. World J Clin Pediatr. 2013; 2(4):36-45.

12. Macchia PE, De Felice M, Di Lauro R. Molecular genetics of congenital hypothyroidism. Curr Opin Genet Dev. 1999; 9(3):289-94.

 13. Castanet M, Polak C, Bonaiti-Pellie S, Lyonnet P, Leger J. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab. 2000; 86(5):2009-14.

14. Dentice V, Cordeddu A, Rosica A, Ferrara AM, Santarpia L, Salvatore D, et al. Missensemutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab. 2006; 91(4):1428-33.

 15. Hall BK, Horstadius S. The neural crest: including a facsimile reprint of the neural crest by Sven Hörstadius. London: Toronto: Oxford University Press; 1988.

16. Franz T. Persistent truncus arteriosus in the Splotch mutant mouse. Anat Embryol. 1989; 180(5):457-64.