Familial congenital heart disease in Bandung, Indonesia
Keywords:
Familial genetic, congenital heart disease, Indonesia
Abstract
Background Congenital heart disease (CHD) may occur inseveral members of a family. Studies have shown that familial
genetic factor play a role in CHD.
Objective To identify familial recurrences of CHD in families
with at least one member treated for CHD in Dr. Hasan Sadikin
Hospital, Bandung Indonesia.
Methods In this descriptive study, subjects were CHD patients
hospitalized or treated from January 2005 to December 2011. We
constructed family pedigrees for five families.
Results During the study period, there were 1,779 patients with
CHD. We found 5 families with 12 familial CHD cases, consisting
of 8 boys and 4 girls. Defects observed in these 12 patients were
tetralogy of Fallot, transposition of the great arteries, persistent
ductus arteriosus, ventricular septa! defect, tricuspid atresia,
pulmonary stenos is, and dilated cardiomyopathy. Persistent ductus
arteriosus was the most frequently observed defect (4 out of 12
subjects) . None of the families had a history of consanguinity. The
recurrence risk of CHD among siblings was calculated to be 0.67%,
and the recurrence risk ofCHD among cousins was 0.16%.
Conclusion Familial CHD may indicate the need for genetic
counseling and further pedigree analysis.
References
1. Hoffman JIE, Kaplan S. The incidence of congenital h eart
disease. J Am Coll Cardiol. 2002;39: 1890-900.2. Indonesia Ministry of Health. Indonesia Health Profile.
Jakarta: Indonesia Ministry of Health; 2011.
3. Park MK. Pediatric cardiology for practitioners. 5th ed.
Philadelphia: Mosby; 2008.
4. Okubo A, Miyoshi 0, Baba K. A novel GATA4 mutation
completely segregated with atrial septa! defect in a large
Japanese family. J Med Genet. 2004;41:e97.
5. Konig K, Will JC, Berger F, Muller D, Benson DW Familial
congenital heart disease, progressive atrioventricular
block and the cardiac homeobox transcription factor gene
NKX2.5: identification of a novel mutation. Clin Res Cardiol.
2006;95 :499-503.
6. Yunis K, Mumtaz G, Bitar F, Chamseddine F, Kassar
M, Rashkidi J, et al. Consanguineous marriage and congenital
heart defects: a case-control study in the neonatal period.
AmJ Med Genet A. 2006;140:1524-30.
7. Mills JL, Troendle J, Conley MR, Carter T, Druschel CM.
Maternal obesity and congenital heart defects: a populationbased
study. AmJ Clin Nutt. 2010;91:1543 -9.
8. Botto LD, Cornea A, Erickson JD. Racial and temporal
variations in the prevalence of heart disease. Pediatrics.
2001 ;107:E32.
9. Forrester MB, Merz RD. Descriptive epidemiology of selected
congenital heart defects, Hawaii, 1986-19 99. Paediatr Perin at
Epidemiol. 2004;18:415-24.
10. Morales-Suarez-Varela MM, Bille C, Christensen K, Olsen].
Smoking habits, nicotine use, and congenital malformations.
Obstet Gynecol. 2006; 107 :51-7.
11. Clark EB. Etiology of congenital cardiovascular malformations:
epidemiology and genetics. In: Allen HD, Gutgesell HP,
Clark EB, Driscoll DJ, editors. Moss and Adam's heart disease
in infants, children, and adolescents. 6th ed. Philadelphia:
William & Wilkins; 2001. p. 64-79.
176 • Paediatrlndones, Vol. 53, No. 3, May 2013
12. Calcagni G, Digilio MC, Sarkozy A, Dallapiccola B, Marino B.
Familial recurrence of congenital heart disease: an overview
and review of the literature. Eur J Pediatr. 2007; 166: 111-6.
13. Fyler DC. D-transposition of the great arteries. In: Fyler
DC, editor. Nadas' pediatric cardiology. 2nd ed. Philadelphia:
Hanley&Belfus; 2006. p. 645-61.
14. Blue GM, Kirk EP, Sholler GF, Harvey RP, Winlaw DS.
Congenital heart disease: current knowledge about causes
and inheritance. Med J Aust. 2012; 197: 155-9.
15. Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones
MA, Steiner RD, et al. Missense mutations in CRELD 1 are
associated with cardiac atrioventricularseptal defects. Am J
Hum Genet. 2003;72:1047-52.
16. Frank LH, Kumar TK, Jonas RA, Donofrio MT. Tetralogy
of Fallot with inverted great arteries {S, D, I}: case report,
literature review, and discussion of embryology. Pediatr
Cardiol. 2012;33:150-4.
17. Gittenberger-de Groot AC, Bartelings MM, Deruiter
MC, Poelmann RE. Basics of cardiac development for the
understanding of congenital heart malformations. Pediatr
Res. 2005;57:169-76.
18. Digilio MC, Marino B, Giannotti A, Toscano A, Dallapiccola
B. Recurrence risk figures for isolated t etralogy of Fallot
after screening for 22qll microdeletion. J Med Genet.
1997;34: 188- 190.
19. Hajj H, Dagle JM. Genetics of patent ductus arteriosus
susceptibility and treatment. Semin Perinatol. 2012;36:98-
104.
20. Hamanoue H, Rahayuningsih SE, Hirahara Y, Itoh J,
Yokoyama U, Mizuguchi T, et al. Genetic screening of 104
patients with congenitally malformed hearts revealed a
fresh mutation of GATA4 in those with atrial septa! defects.
Cardiol Young. 2009; 19:482-5.
disease. J Am Coll Cardiol. 2002;39: 1890-900.2. Indonesia Ministry of Health. Indonesia Health Profile.
Jakarta: Indonesia Ministry of Health; 2011.
3. Park MK. Pediatric cardiology for practitioners. 5th ed.
Philadelphia: Mosby; 2008.
4. Okubo A, Miyoshi 0, Baba K. A novel GATA4 mutation
completely segregated with atrial septa! defect in a large
Japanese family. J Med Genet. 2004;41:e97.
5. Konig K, Will JC, Berger F, Muller D, Benson DW Familial
congenital heart disease, progressive atrioventricular
block and the cardiac homeobox transcription factor gene
NKX2.5: identification of a novel mutation. Clin Res Cardiol.
2006;95 :499-503.
6. Yunis K, Mumtaz G, Bitar F, Chamseddine F, Kassar
M, Rashkidi J, et al. Consanguineous marriage and congenital
heart defects: a case-control study in the neonatal period.
AmJ Med Genet A. 2006;140:1524-30.
7. Mills JL, Troendle J, Conley MR, Carter T, Druschel CM.
Maternal obesity and congenital heart defects: a populationbased
study. AmJ Clin Nutt. 2010;91:1543 -9.
8. Botto LD, Cornea A, Erickson JD. Racial and temporal
variations in the prevalence of heart disease. Pediatrics.
2001 ;107:E32.
9. Forrester MB, Merz RD. Descriptive epidemiology of selected
congenital heart defects, Hawaii, 1986-19 99. Paediatr Perin at
Epidemiol. 2004;18:415-24.
10. Morales-Suarez-Varela MM, Bille C, Christensen K, Olsen].
Smoking habits, nicotine use, and congenital malformations.
Obstet Gynecol. 2006; 107 :51-7.
11. Clark EB. Etiology of congenital cardiovascular malformations:
epidemiology and genetics. In: Allen HD, Gutgesell HP,
Clark EB, Driscoll DJ, editors. Moss and Adam's heart disease
in infants, children, and adolescents. 6th ed. Philadelphia:
William & Wilkins; 2001. p. 64-79.
176 • Paediatrlndones, Vol. 53, No. 3, May 2013
12. Calcagni G, Digilio MC, Sarkozy A, Dallapiccola B, Marino B.
Familial recurrence of congenital heart disease: an overview
and review of the literature. Eur J Pediatr. 2007; 166: 111-6.
13. Fyler DC. D-transposition of the great arteries. In: Fyler
DC, editor. Nadas' pediatric cardiology. 2nd ed. Philadelphia:
Hanley&Belfus; 2006. p. 645-61.
14. Blue GM, Kirk EP, Sholler GF, Harvey RP, Winlaw DS.
Congenital heart disease: current knowledge about causes
and inheritance. Med J Aust. 2012; 197: 155-9.
15. Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones
MA, Steiner RD, et al. Missense mutations in CRELD 1 are
associated with cardiac atrioventricularseptal defects. Am J
Hum Genet. 2003;72:1047-52.
16. Frank LH, Kumar TK, Jonas RA, Donofrio MT. Tetralogy
of Fallot with inverted great arteries {S, D, I}: case report,
literature review, and discussion of embryology. Pediatr
Cardiol. 2012;33:150-4.
17. Gittenberger-de Groot AC, Bartelings MM, Deruiter
MC, Poelmann RE. Basics of cardiac development for the
understanding of congenital heart malformations. Pediatr
Res. 2005;57:169-76.
18. Digilio MC, Marino B, Giannotti A, Toscano A, Dallapiccola
B. Recurrence risk figures for isolated t etralogy of Fallot
after screening for 22qll microdeletion. J Med Genet.
1997;34: 188- 190.
19. Hajj H, Dagle JM. Genetics of patent ductus arteriosus
susceptibility and treatment. Semin Perinatol. 2012;36:98-
104.
20. Hamanoue H, Rahayuningsih SE, Hirahara Y, Itoh J,
Yokoyama U, Mizuguchi T, et al. Genetic screening of 104
patients with congenitally malformed hearts revealed a
fresh mutation of GATA4 in those with atrial septa! defects.
Cardiol Young. 2009; 19:482-5.
Published
2013-06-30
How to Cite
1.
Rahayuningsih S. Familial congenital heart disease in Bandung, Indonesia. PI [Internet]. 30Jun.2013 [cited 19Apr.2024];53(3):173-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/276
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Received 2016-08-21
Accepted 2016-08-21
Published 2013-06-30
Accepted 2016-08-21
Published 2013-06-30
