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Consanguineous marriage makes congenital heart diseases more complex

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Introduction: Inbreeding increases homozygotes for autosomal recessive disorders resulting in high prevalence of congenital heart disease (CHD). This cross-section looks whether consanguineous marriage (CM) makes CHDs more complex.
Subjects and Methods: This was an observational study which looked at the cross-section of a cohort of consecutive 113 patients having different CHD who visited Nizam Institute of Medical Sciences, Andhra Pradesh, during the year 2016 for surgery or intervention. The definitive diagnosis of CHD was supported by clinical profile, chest X-ray, echo, ultrasound abdomen, and cardiac catheterization which is appropriate. The study population was divided into CM group and distance marriage (DM) group. The categorical variables were analyzed using descriptive statistics.
Results: Out of 113 patients with CHD, 61 (54%) were females. A majority 104 (94%) were Hindu. About 74% of patients were from below poverty line category. Approximately 27% and 73% patients were born out of consanguineous and DM, respectively. Most of the patients were from a rural background, and 63.7% had an education level of ≤10th class. Approximately, a total of 50 (44.2%) patients had complex CHDs (CCHDs). CCHD had significant association with CM (odds ratio: 2.60 95% confidence interval: 1.11–6.09, and P = 0.02).
Conclusion: As there was a significant association of CCHD with inbreed marriage, this observation discourages CM.

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Consanguineous marriage makes congenital heart diseases more complex

  1. 1. Official Publication of Nigeria Cardiac Society NIGERIANJOURNALOF CARDIOLOGY Volume 15 | Issue 2 | July-December 2018 ISSN 0189-7969 http://www.nigjcardiol.org NigerianJournalofCardiologylVolume15lIssue1lJanuary-June2018lPages1-70 Spine 3.5 mm
  2. 2. 98 © 2019 Nigerian Journal of Cardiology | Published by Wolters Kluwer - Medknow Original Article INTRODUCTION Consanguineous marriage (CM) is associated with an increased susceptibility to congenital heart disease (CHD).[1] Children born with CHD suffer from high mortality, morbidity, high health‑care costs, nonavailability of advanced care, and the need for lifelong care.[2,3] There are several recognized risk factors for CHD such as family history of CHD, inbreed marriage, genetic causes, vitamin deficiency, use of certain medications, maternal diabetes, and age of parents.[4‑7] This study aimed to find whether CM is a potential risk factor for complex congenital heart disease(CCHD) among the patients with CHD attending a tertiary care hospital in South India. Consanguineous marriage makes congenital heart diseases more complex Ramachandra Barik, Prafulla Kumar Swain1 , Mimansa Barik2 Department of Cardiology, All India Institute of Medical Sciences, 1 Department of Statistics, Utkal University, 2 Mother's Public School, Bhubaneswar, Odisha, India Introduction: Inbreeding increases homozygotes for autosomal recessive disorders resulting in high prevalence of congenital heart disease (CHD). This cross‑section looks whether consanguineous marriage (CM) makes CHDs more complex. Subjects and Methods: This was an observational study which looked at the cross‑section of a cohort of consecutive 113 patients having different CHD who visited Nizam Institute of Medical Sciences, Andhra Pradesh, during the year 2016 for surgery or intervention. The definitive diagnosis of CHD was supported by clinical profile, chest X‑ray, echo, ultrasound abdomen, and cardiac catheterization which is appropriate. The study population was divided into CM group and distance marriage (DM) group. The categorical variables were analyzed using descriptive statistics. Results: Out of 113 patients with CHD, 61 (54%) were females. A majority 104 (94%) were Hindu. About 74% of patients were from below poverty line category. Approximately 27% and 73% patients were born out of consanguineous and DM, respectively. Most of the patients were from a rural background, and 63.7% had an education level of ≤10th  class. Approximately, a total of 50 (44.2%) patients had complex CHDs (CCHDs). CCHD had significant association with CM (odds ratio: 2.60 95% confidence interval: 1.11–6.09, and P = 0.02). Conclusion: As there was a significant association of CCHD with inbreed marriage, this observation discourages CM. Keywords: Complex congenital heart disease, consanguineous marriage, distance marriage, South India Abstract Access this article online Quick Response Code: Website: www.nigjcardiol.org DOI: 10.4103/njc.njc_40_17 Address for correspondence: Dr. Ramachandra Barik, All India Institute of Medical Sciences, Bhubaneswar ‑ 751 019, Odisha, India. E‑mail: cardioramachandra@gmail.com How to cite this article: Barik R, Swain PK, Barik M. Consanguineous marriage makes congenital heart diseases more complex. Nig J Cardiol 2018;15:98-101. This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. For reprints contact: reprints@medknow.com
  3. 3. Barik, et al.: Consanguineous marriage makes congenital heart diseases more complex Nigerian Journal of Cardiology | Volume 15 | Issue 2 | July‑December 2018 99 SUBJECTS AND METHODS A total of 113 consecutive patients with CHD attending cardiology clinic of our institute were enrolled in the study during 2015–2016. This government hospital is the main referral center for cardiac intervention and cardiac surgery for most of the socioeconomically challenged population in the state of Andhra Pradesh. The diagnosis of CHD was made using clinical profile, two‑dimensional echocardiography, and chest X‑ray. Ultrasound abdomen was done in most of the cases to rule out associated abdominal viscera malformation. CHD among the siblings was also looked for in all the studied patients. Referral slips were scrutinized for already accomplished genetic evaluation. The demographic characteristics such as parental age, consanguinity, gravida, religion, parental education, occupation, socioeconomic status, maternal health during pregnancy, and history of CHDs in first‑degree relation of the patients and maternal smoking or alcohol intake or any other significant illness in mother were documented. CM in this study indicates a marriage between first‑cousins (father had married his uncle’s daughter and parents are the children of brother and sister in relation to each other). Even though, the marriage between nice and uncle is quite common, we have not included in this study. Simple CHDs included mild pulmonary valve stenosis, a small, uncomplicated atrial septal defect or ventricular septal defect, patent ductus arteriosus, and successfully repaired atrial septal defect, ventricular septal defect, patent ductus arteriosus, and anomalous pulmonary venous connection. Complex CHD, on the other hand, includes any complex anatomical or physiological lesion as defined by the Bethesda conference (Warnes CA, Liberthson R, Danielson GK, Dore A, Harris L, Hoffman JI, Somerville J, Williams RG, Webb GD. Task force 1: The changing profile of CHD in adult life. J Am Coll Cardiol. 2001;37:1170‑75). Statistical analysis Statistical analysis was performed using test of proportion online calculator (http://www.socscistatistics.com/tests/) and https://www. medcalc.org/index.php. Differences between groups were determined by the Chi‑square test for categorical variables. The α error (P) was considered significant when it was 0.05 at the β error of 0.20. The odds ratio (OR), its standard error and 95% confidence interval are calculated according to Altman, 1991. Ratio and proportion were used for descriptive observations. RESULTS This study included a total of 113 patients having 19 different types of CHD [Figure 1]. Female accounted DM CM Total ALCAPA 0 1 1 ASD 18 5 23 AVCD 3 1 4 CCTGA 0 1 1 COA 5 0 5 DCRV 4 1 5 DORV 3 3 6 DTGA 0 1 1 GERBODE 1 1 2 PDA 2 4 6 PS 2 0 2 SI VSD 1 0 1 SMR 1 0 1 SUPRAAS 0 1 1 TAPVC 3 0 3 TOF 14 8 22 TRIA 0 1 1 TRUNCUS 1 0 1 VSD 24 3 27 0 5 10 15 20 25 30 AXISTITLE A total 19 types CHD in DM and CM groups Figure 1: The profile of simple congenital heart disease versus complex congenital heart disease in the consanguineous marriage and distance marriage group 54%. Only 29 patients (25.6%) belonged to the age group of ≤1 year. Most of the patients were Hindu, 104 (92%) and were from rural areas. Of 113 patients, 31 (27.4%) were born out of CM [Table 1]. The level of education was ≤10th  constituted 73 (65%). A total of 27.4% of patients had the paternal age of ≥30 years had no significant relation with the incidence of CCHD [Table 1]. Maternal age of 25 years was seen in 26 (23%). Most patients (n = 83, 74%) belonged to below poverty line. A total of 50 (44.2%) had CCHD. The CM had significant association with CCHD (OR: 2.83, 95% CI: 0.1.21–6.60, P = 0.01) [Figure 2 and Table 2] and level of education (OR: 3.13, CI: 1.163–8.44 and P = 0.02) [Figure 3]. Tetralogy of Fallot (TOF) was the most common CCHD among the CM. Only patient with dextrocardia with VSD had situs in versus in the ultrasound abdomen.
  4. 4. Barik, et al.: Consanguineous marriage makes congenital heart diseases more complex 100 Nigerian Journal of Cardiology | Volume 15 | Issue 2 | July‑December 2018 DISCUSSION In our study, out of 113 cases with CHD, consanguinity was observed in 31 patients (28.3%) which is significantly quite high in comparison to previously reported researches.[7‑9] This kind of higher incidences of CHD in CM may be due to the higher prevalence of inbreeding marriage in Andhra Pradesh, lack of awareness and low‑socioeconomic status. As we have mentioned earlier, most of the patients who attend this hospital are financially challenged, which could be an apparent bias for this observation. This kind of observation is also further supported by only 25% of people who had attended the dedicated cardiac center for definitive care ≤1 year of age. Both simple CHD (SCHD) and CCHD had the higher prevalence in CM group with TOF being the most common CCHD in our study.[10] Limitation Small sample size and limited genetic testing for recessive trait analysis were the major limitations in this study. CONCLUSION As there was a significant association of CHD with inbreed marriage, this observation discourages CM to reduce CHDs. We hope a larger observation to consider causal association would further provide strength to this finding. Financial support and sponsorship Nil. Conflicts of interest Dr. Ramachandra Barik has collected data and had prepared the manuscript, Dr. Prafulla Kumar Swain has provided 12 51 19 31 0 10 20 30 40 50 60 70 80 90 Consanguineous Distance marriage Number Types of CHD Complex Simple Figure2:Thedistributionofcongenitalheartdiseaseinconsanguineousand distance marriages (odds ratio = 2.60, 95% confidence interval: 1.11–6.09) 24 48 7 34 0 10 20 30 40 50 60 70 80 90 Consanguineous Distance marriage Number LEVEL OF EDUCATION 10th class 10th Class or less Figure 3: The patients having ≤10th  class versus higher education had (odds ratio = 2.43, 95% confidence interval: 1.01–6.23) times odds of consanguinity marriage than distance marriage Table 1: Epidemiological, clinical profile of study population Characteristics Category Frequency (%) Gender Male 52 (46) Female 61 (54) Community Hindu 104 (92) Muslim 7 (6.2) Christian 2 (1.8) Marital status CM 31 (27.4) DM 82 (72.6) Area of residence Rural 84 (74.3) Urban 29 (25.7) SES BPL 83 (73.5) APL 30 (26.5) Education level ≤10th class 72 (63.7) ≥10th class 41 (36.2) Types of CHD Simple CHD 63 (55.8) Complex CHD 50 (44.2) Paternal age ≤30 years 82 (72.6) 30 years 31 (27.4) Maternal age ≤25 years 87 (77) 25 years 26 (23) CHDs – Congenital heart diseases; CM – Consanguineous marriage; DM – Distance marriage; SES – Socioeconomic status; BPL – Below poverty line; APL – Above poverty line Table 2: Relative strength of association of congenital heart disease with various congenital heart disease Characteristics Category CM DM χ2 P Types of CHD Simple 12 (19.05) 51 (80.95) 5.03 0.021* Complex 19 (31.0) 31 (62.0) Community Hindu 29 (27.88) 75 (72.12) 0.132 0.53 Others 2 (22.22) 7 (77.78) Residence Rural 22 (26.19) 62 (73.81) 0.254 0.39 Urban 9 (31.03) 20 (68.97) SES BPL 23 (27.71) 60 (72.29) 0.012 0.55 APL 8 (26.67) 22 (73.33) Education level ≤10th class 24 (33.33) 48 (66.67) 3.47 0.047* 10th class 7 (17.07) 34 (82.93) Parental age ≤30 years 24 (29.27) 58 (70.73) 0.505 0.322 30 years 7 (22.58) 24 (77.42) Maternal age ≤25 years 26 (29.88) 61 (70.12) 1.141 0.209 25 years 5 (19.23) 21 (80.77) CM – Consanguineous marriage; DM – Distance marriage; SES – Socioeconomic status; BPL – Below poverty line; APL – Above poverty line; CHD – Congenital heart disease
  5. 5. Barik, et al.: Consanguineous marriage makes congenital heart diseases more complex Nigerian Journal of Cardiology | Volume 15 | Issue 2 | July‑December 2018 101 statistical analysis support and Miss Mimansa Barik has supported the language editing for the manuscript. REFERENCES 1. Shieh JT, Bittles AH, Hudgins L. Consanguinity and the risk of congenital heart disease. Am J Med Genet A 2012;158:1236‑41. 2. Simeone RM, Oster ME, Cassell CH, Armour BS, Gray DT, Honein MA, et al. Pediatric inpatient hospital resource use for congenital heart defects. Birth Defects Res A Clin Mol Teratol 2014;100:934‑43. 3. Pasquali SK, Jacobs ML. Assessment of costs in congenital heart surgery. World J Pediatr Congenit Heart Surg 2014;5:363‑4. 4. Shoukri  MM, AlJufan  M, Subhani  S, Baig  M, Al‑Mohanna  F. Consanguinity, maternal age, and maternal diabetes as potential risk factors for congenital heart diseases: A nested case control study from Saudi Arabia. J Epidemiol Public Health Rev 2017;2:(2). 5. Parnell AS, Correa A. Analyses of trends in prevalence of congenital heart defects and folic acid supplementation. J Thorac Dis 2017;9:495‑500. 6. van de Laar I, Wessels M. Inheritance of Congenital Heart Disease. In: Roos-Hesselink J, Johnson M. edsitors. Pregnancy and Congenital Heart Disease. Congenital Heart Disease in Adolescents and Adults. Springer, Cham; 2017 7. Sunitha T, Prasoona KR, Kumari TM, Srinadh B, Deepika ML, Aruna R, et al. Risk factors for congenital anomalies in high risk pregnant women: A large study from South India. Egypt J Med Hum Genet 2017;18:79‑85. 8. Badaruddoza AJ, Afzal M. Inbreeding depression and intelligence quotient among North Indian children. Behav Genet 1993;23:343‑7. 9. Ramegowda S, Ramachandra NB. Parental consanguinity increases congenital heart diseases in South India. Ann Hum Biol 2006;33:519‑28. 10. Becker SM, Al Halees Z, Molina C, Paterson RM. Consanguinity and congenital heart disease in Saudi Arabia. Am J Med Genet 2001;99:8‑13.

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