Tesis

Faktor Risiko Penyakit Jantung Bawaan pada Anak Sindrom Down = Risk Factors of Congenital Heart Disease in Children with Down Syndrome.

Latar belakang: Penyakit jantung bawaan (PJB) didapatkan pada 40-50% pasien sindrom Down, merupakan penyebab utama morbiditas dan mortalitas. Salah satu manifestasi tambahan lain selain PJB adalah hipertensi pulmoner. Faktor-faktor risiko yang berperan untuk terjadinya PJB, terjadi pada periode perikonsepsi yaitu 3 bulan sebelum kehamilan hingga trimester pertama kehamilan. Beberapa penelitian mengenai faktor risiko PJB yang telah dilakukan memiliki hasil yang tidak konsisten baik dalam populasi sindrom Down sendiri, maupun apabila dibandingkan dengan populasi umum. Tujuan: Mengetahui prevalens PJB dan hipertensi pulmoner, jenis PJB yang banyak didapatkan, dan faktor risiko PJB pada sindrom Down. Metode: Studi potong lintang observational analytic pada pasien sindrom Down berusia ≤5 tahun di RSCM. Data diambil dari wawancara dengan orangtua subyek yang datang langsung ke poliklinik rawat jalan RSCM Kiara, Departemen Rehabilitasi Medis, dirawat di Gedung A RSCM, IGD, perinatologi maupun orangtua dari subyek yang tercatat di rekam medis dengan diagnosis sindrom Down atau memiliki International Classification of Disease (ICD) 10 Q90.9 sejak Januari 2012 hingga Desember 2015. Hasil penelitian: Sebanyak 70 subyek sindrom Down memenuhi kriteria inklusi. Median usia subyek adalah 16,5 bulan. Penyakit jantung bawaan didapatkan pada 47,1% subyek. Defek septum atrium dan duktus arteriosus paten merupakan PJB terbanyak yang didapatkan yaitu masing-masing 30,3%. Penyakit jantung bawaan lain yang didapatkan adalah defek septum atrioventrikel dan defek septum ventrikel yaitu sebesar 18,2 dan 21,2%. Hipertensi pulmoner didapatkan pada 17,1% subyek dengan 10/12 subyek terjadi bersamaan dengan PJB. Usia ibu ≥35 tahun [p= 0,77; OR 0,87 (0,34-2,32)], usia ayah ≥35 tahun [p= 0,48; OR 1,44 (0,52-4,01)], febrile illness [p= 0,72; OR 0,81 (0,25-2,62)], penggunaan obat-obat yaitu antipiretik [p= 0,71; OR 0,60 (0,14-2,82)], antibiotik (p=0,91; OR 1,13 (0,15-8,5)], jamu/obat herbal [p=0,89; OR 0,89 (0,22-3,60)], keteraturan penggunaan asam folat [p= 0,27; OR 0,58 (0,22-1,50)], ibu merokok (p= 0,34), dan pajanan rokok [p= 0,89; OR 0,94 (0,36-2,46)] saat periode perikonsepsi tidak terbukti berhubungan dengan terjadinya PJB pada sindrom Down. Kesimpulan: Faktor risiko lingkungan periode perikonsepsi tidak terbukti berhubungan dengan kejadian PJB pada sindrom Down.
Kata kunci: sindrom Down, PJB, hipertensi pulmoner, faktor risiko perikonsepsi.



Background: Congenital heart disease (CHD) affects 40-50% of children with Down syndrome and is a major cause of morbidity and mortality. Another important manifestation that can also influence morbidity and mortality rate of children with this syndrome is pulmonary hypertension. The risk factors of CHD is during periconceptional period, which extends from 3 months before and first 3 months pregnancy may affect heart embriogenesis. However, the result of previous studies on these possible risk factors, wheter in general or Down syndrome population, have been inconsistent. Objective: To know prevalence CHD and pulmonary hypertension, type of CHD, as well as type and risk factors CHD in children with Down syndrome. Methods: A cross sectional observational analysis was conducted in children aged ≤5 years old who were diagnosed with Down syndrome at Cipto Mangunkusumo Hospital in Jakarta. Questionnaire data was obtained through interview with patient’s parents at outpatient clinics of medical rehabilitation unit, emergency unit, and children’s ward, as well as parents whom their children is registered as Down syndrome in medical records since January 2012 to December 2015. Results: Seventy subject with Down syndrome with median aged are 16.5 months old. There were 47.1% subject with CHD. Atrial septal defect (30.3% subject) and patent ductus arteriosus (30.3%) were the most common type of CHD. Other types that were also identified include atrioventricle septal defect (18.2%) and ventricle septal defect (21.2%). Pulmonary hypertension found in 17.1% subjects. In 10 out of 12 subjects, it coincide with CHD. Mother’s age ≥35 years old [p= 0,77; OR 0,87 (0,34-2,32)], father’s age ≥35 years old [p= 0,48; OR 1,44 (0,52-4,01)], febrile illness [p= 0,72; OR 0,81 (0,25-2,62)], consumption of certain medication such as antipyretic [p= 0,71; OR 0,60 (0,14-2,82)], antibiotics [p=0,91; OR 1,13 (0,158,5)], herbal medicine [p=0,89; OR 0,89 (0,22-3,60)], routinely consumption of folic acid [p= 0,27; OR 0,58 (0,22-1,50) ], mother’s smoking habit (p= 0,34), and passive smoking [p= 0,89; OR 0,94 (0,36-2,46)] in periconceptional period were not found correlate with CHD. Conclusion: Enviromental factors during periconceptional period are not correlate with CHD in Down syndrome.
Keywords: Down syndrome, congenital heart disease, pulmonary hypertension, periconceptional risk factors.