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"ABSTRACTCongenital hypothyroidism is the most treatable cause of mental retardation. It is also the most prevalent congenital endocrine disorder in childhood. A dramatic improvement can be made by early detection, diagnosis, and adequate treatment of levothyroxine in patients with congenital hypothyroidism. Severe cognitive impairment is associated with persistent disease in patients who have delayed or no treatment at all. In a modern era with complete healthcare facilities in a big city like Jakarta, the prevalence late-diagnosed congenital hypothyroidism is supposed to be very low. Since many districts have their own public healthcare facilities to screen and diagnose congenital hypothyroidism in children at very young age, a delayed diagnosis in adulthood is actually a rare case.In this medical illustration, we report a case of 21 year-old woman who came to our hospital with abdominal pain. She had mental retardation with no capability to communicate well with other person. She had a short stature (her height was less than 1 meter). She also had mongoloid face with big lips and a very big tongue. There was no goiter or lump on her neck. Her motoric performance was very weak and frail. During abdominal examination, we could see an umbilical bulging on her abdominal wall and on palpation, we could feel an umbilical hernia. By abdominal ultrasound, we could see the umbilical hernia. Unfortunately, no diagnosis of congenital hypothyroidism had been made when she was a newborn, there was also no past or known history of thyroid disease of her and her family. She had a diagnosis of mental retardation with no specific etiology since she was 5-years old. Based on the results of her laboratory examination, we had a confirmed diagnosis of primary hypothyroidism with T4 10,56 nmol/L (normal 60-120 nmol/L) and TSH > 100 mIU/mL. We provided her treatment using levothyroxine based on her body weight (25 mg daily). We arranged her to have abdominal CT Scan and digestive surgery as further management for her umbilical herniation.Some defects are correlated with congenital hypothyroidism when the disease is not treated properly and adequately. Neurocognitive, neuromotoric, growth, and development are some areas which can be disrupted by long-term hypothyroidism condition for patients who had the disease since their early years of life. Congenital hypothyroidism appears to be associated with an increased risk of congenital malformations. Several congenital malformations associated with congenital hypothyrodism are umbilical hernia, congenital heart disease, neurologic abnormalities, genitourinary malformations, cleft palate, and Downs syndrome.Studies concluded that severity of the congenital hypothyroidism has more important role than timing of treatment initiation on long-term cognitive and motor outcomes. Detrimental effects on developmental outcomes in congenital hypothyroidism patients may persist over time; however, early treatment for patients at very early ages may bring the best cognitive outcomes and neuromotoric development.Regardless of the treatment options, we can say that it is a loss case and a very late diagnosis and treatment of congenital hypothyroidism. The unusual age of detection, delayed diagnosis and treatment are some reminders for primary care physicians in our society to pay greater attention to screening programs. 6 Early detection and prompt treatment is an essential part of measures to reduce burden of mental retardation in our society. Delayed diagnosis of congenital hypothyroidism case, which is diagnosed at adulthood, indicates failure in screening program. Early diagnosis and treatment are necessary to prevent long-term catastrophic effects. This a wake-up call of attention and awareness for general public and primary care physicians in our country."

"ABSTRAKHipotiroid kongenital (HK) adalah kelainan bawaan yang dapat menimbulkandampak berupa retardasi mental permanen. Pemberian levothyroxine dengan dosis tepat pada usia sedini mungkin, dapat mencegah gangguan pertumbuhan dan perkembangan. Sayangnya, bayi baru lahir tidak menunjukkan gejala HK. Kalaupun ada, berarti sudah ada gangguan pertumbuhan. Perlu skrining hipotiroid kongenital (SHK) untuk menemukan kasus bayi yang menderita HK.Meski sudah dilakukan sejak 2006, baru pada tahun 2014 dikeluarkan Permenkes tentang pelaksanaan SHK di Indonesia. Penelitian evaluasi ekonomi program SHK tahun 2014-2015 ini mencakup analisis biaya skrining dan terapi dini, sedangkan outcome didapat dari systematic review (SR). Asumsi dikembangkan berdasarkan data riil pasien skrining SHK di 2 laboratorium rujukan di Jakarta dan Bandung.Dari total 56.186 bayi yang melakukan skrining, diperoleh 24 pasien positifmenderita HK. Hasil SR menyatakan bahwa semakin dini onset terapi, semakin adekuat dosis inisiasi dan semakin kontinyu terapi dapat memberikan hasil yang baik. Hasil Tersebut berupa pencegahan terhadap komplikasi HK lebih jauh dan perbaikan pada penyimpangan tumbuh kembang.Dari hasil penelitian, didapatkan informasi bahwa baru pada tahun kedua terlihat adanya keuntungan ekonomis SHK. Hal ini berhubungan dengan patologi gejala HK yang umumnya muncul pada usia 3-6 bulan. Orang tua baru mencari pertolongan medis pada tahun kedua dan mengeluarkan lebih banyak biaya. Biaya skrining dan terapi dini menjadi sepadan dibandingkan dengan kerugian yang dapat dicegah akibat gejala gangguan tumbuh kembang.

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ABSTRACTCongenital hypothyroidism (CH) is a congenital disorder that can have an impact in the form of permanent mental retardation. Giving the right dose of levothyroxine at the earliest possible age, can prevent the disruption of growth and development. Newborns do not show symptoms of CH, and unfortunately the symptoms appear in the late period and in many cases it shows growth disorders. The congenital hypothyroidism screening (CHS) program has been implemented to find infant cases with CH, and followed up with treatment.Although it has been made since 2006, Minister of Health just issued the regulation in 2014 on the implementation of CHS in Indonesia. This economic evaluation of the CHS program in 2014-2015 was done using cost analysis, while outcome obtained from the systematic review (SR). The assumptions used in the analysis were developed based on real data from a CHS screening program in two referral laboratories in Jakarta and Bandung. Out of 56.186 screened babies, 24 babies were found as CH positive cases.The result of the SR revealed that the earlier onset of initiation therapy, the more adequate dose and the more continuous therapy given to the patient, the better result will be achieved. It will prevent the patients from severe complications of CH and will improve the quality of thegrowth and development. The study found that the economic benefit is achieved in the second year of CH treatment, since the pathological symptoms generally appear at the age of 3-6 month and parents seek care in the second year. Consequently, cost to treat patients will increase. The cost of screening and early treatment was found worthy as compared to economic loss resulting from growth disorders"

"ABSTRAKHipotiroid kongenital (HK) adalah kelainan bawaan yang dapat menimbulkandampak berupa retardasi mental permanen. Pemberian levothyroxine dengan dosistepat pada usia sedini mungkin, dapat mencegah gangguan pertumbuhan danperkembangan. Sayangnya, bayi baru lahir tidak menunjukkan gejala HK. Kalaupunada, berarti sudah ada gangguan pertumbuhan. Perlu skrining hipotiroid kongenital(SHK) untuk menemukan kasus bayi yang menderita HK.Meski sudah dilakukan sejak 2006, baru pada tahun 2014 dikeluarkan Permenkestentang pelaksanaan SHK di Indonesia. Penelitian evaluasi ekonomi program SHKtahun 2014-2015 ini mencakup analisis biaya skrining dan terapi dini, sedangkanoutcome didapat dari systematic review (SR). Asumsi dikembangkan berdasarkandata riil pasien skrining SHK di 2 laboratorium rujukan di Jakarta dan Bandung.Dari total 56.186 bayi yang melakukan skrining, diperoleh 24 pasien positifmenderita HK.Hasil SR menyatakan bahwa semakin dini onset terapi, semakin adekuat dosisinisiasi dan semakin kontinyu terapi dapat memberikan hasil yang baik. Hasiltersebut berupa pencegahan terhadap komplikasi HK lebih jauh dan perbaikan padapenyimpangan tumbuh kembang.Dari hasil penelitian, didapatkan informasi bahwa baru pada tahun kedua terlihatadanya keuntungan ekonomis SHK. Hal ini berhubungan dengan patologi gejala HKyang umumnya muncul pada usia 3-6 bulan. Orang tua baru mencari pertolonganmedis pada tahun kedua dan mengeluarkan lebih banyak biaya. Biaya skrining danterapi dini menjadi sepadan dibandingkan dengan kerugian yang dapat dicegahakibat gejala gangguan tumbuh kembang.

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ABSTRACTCongenital hypothyroidism (CH) is a congenital disorder that can have an impact inthe form of permanent mental retardation. Giving the right dose of levothyroxine atthe earliest possible age, can prevent the disruption of growth and development.Newborns do not show symptoms of CH, and unfortunately the symptoms appear inthe late period and in many cases it shows growth disorders. The congenitalhypothyroidism screening (CHS) program has been implemented to find infant caseswith CH, and followed up with treatment.Although it has been made since 2006, Minister of Health just issued the regulationin 2014 on the implementation of CHS in Indonesia. This economic evaluation of theCHS program in 2014-2015 was done using cost analysis, while outcome obtainedfrom the systematic review (SR). The assumptions used in the analysis weredeveloped based on real data from a CHS screening program in two referrallaboratories in Jakarta and Bandung. Out of 56.186 screened babies, 24 babies werefound as CH positive cases.The result of the SR revealed that the earlier onset of initiation therapy, the moreadequate dose and the more continuous therapy given to the patient, the better resultwill be achieved. It will prevent the patients from severe complications of CH andwill improve the quality of thegrowth and development..The study found that the economic benefit is achieved in the second year of CHtreatment, since the pathological symptoms generally appear at the age of 3-6 monthand parents seek care in the second year. Consequently, cost to treat patients willincrease. The cost of screening and early treatment was found worthy as compared toeconomic loss resulting from growth disorders."

"ABSTRAKLatar Belakang: Hipotiroid kongenital merupakan salah satu penyebab paling umum terjadinya retardasi mental. Padahal, terjadinya komplikasi hipotiroid kongenital dapat dicegah sejak dini. Oleh karena itu, skrining hipotiroid kongenital dengan mengukur kadar TSH menjadi penting terutama pada bayi yang berisiko lebih tinggi terkena hipotiroid kongenital. Usia prematur diduga menjadi salah satu faktor risiko hipotiroid kongenital karena terkait imaturitas organ.Tujuan: Penelitian ini dilakukan dengan tujuan mengetahui persentase bayi prematur, nilai rujukan TSH neonatus di Indonesia, dan hubungan antara kadar TSH neonatus dan status prematuritas.Metode: Desain penelitian yang digunakan adalah studi potong lintang dengan subjek berasal dari data skrining hipotiroid kongenital RSUPN Dr. Cipto Mangunkusumo yang sampel darahnya dianalisis dengan cara Fluorometri dengan reagen Labsystem. Data berasal dari bulan Mei dan Juni 2017 yang diperoleh melalui teknik consecutive sampling. Dari 2987 subjek, terdapat 1700 subjek yang memenuhi kriteria inklusi dan eksklusi. Subjek dibagi menjadi kelompok bayi prematur n=111 dan bayi lahir cukup bulan n=1589 . Sampel kemudian dianalisis menggunakan SPSS versi 20.0 untuk mengetahui hubungan kadar TSH dan status prematuritas dengan uji Mann-Whitney dan uji korelasi, serta MedCalc versi 17.9 untuk mencari nilai rujukan TSH neonatus di Indonesia.Hasil: Persentase bayi prematur yang didapatkan yaitu sebesar 6,5 . Nilai rujukan TSH neonatus berdasarkan kelahiran prematur didapatkan nilai 1,0-8,9 mU/L dengan median 2,5 1,0-12,8 mU/L dan berdasarkan kelahiran cukup bulan sebesar 1,5-8,0 mU/L dengan median 3,2 1,0-19,8 mU/L. Analisis menggunakan uji Mann-Whitney, didapatkan hubungan bermakna antara kadar TSH neonatus dan status prematuritas p.

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ABSTRACTBackground Congenital hypothyroid is one of the most common causes of mental retardation. Actually, this complication can be prevented since earlier. Therefore, congenital hypothyroid screening by measuring TSH level is important to every infants, especially in higher risk of developing congenital hypothyroid. Prematurity is hypothesised as one of risk factor for congenital hypothyroid related to organ immaturity.Objective The aim of this study is to determine the percentage of preterm birth, neonatal TSH reference values in Indonesia, and association between neonatal TSH level with prematurity status.Methods This cross sectional study used subjects which was obtained from congenital hypothyroid screening data in General National Hospital Dr. Cipto Mangunkusumo from May to June 2017 by consecutive sampling. The screening of congenital hypothyroid used Fluorometry with Labsystem reagen to analyse blood samples. From 2987 subjects, 1700 subjects fulfilled the inclusion and exclusion criteria. Subjects were divided into two groups preterm infants n 111 and term infants n 1589 . Then, samples were analysed with SPSS version 20.0 to investigate association between neonatal TSH level with prematurity status by Mann Whitney test and correlation test, also MedCalc version 17.9 to calculate neonatal TSH reference values.Results The percentage of preterm infants was 6.5 . Neonatal TSH reference values based on preterm birth infants were 1.0 8.9 mU L with median 2.5 1.0 12.8 mU L and based on term infants were 1.5 8.0 mU L with median 3.2 1.0 19.8 mU L. There was also a significant association between neonatal TSH level and prematurity status Mann Whitney test, p"

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Kanker nasofaring merupakan pertumbuhan sel secara abnormal yang berkembang di sekitar nasofaring. Kanker nasofaring menempati urutan keempat sebagai kanker dengan angka kejadian terbanyak di Indonesia. Pengobatan pada pasien kanker nasofaring meliputi kemoterapi, radioterapi, atau gabungan dari keduanya. Kedua pengobatan tersebut memiliki efek samping pada pasien yang dapat bersifat akut (kurang dari 3 bulan) ataupun kronik (lebih dari 3 bulan). Pada penelitian ini, akan difokuskan pada penyakit hipotiroid sebagai efek samping dari radioterapi pada pengobatan pasien penderita kanker nasofaring. Hipotiroid adalah kondisi ketika kelenjar tiroid tidak mampu menghasilkan hormon tiroid yang cukup. Penelitian ini memiliki dua tujuan utama, yaitu mengidentifikasi faktor-faktor yang berasosiasi dengan penyakit hipotiroid dan mengetahui hubungan penyakit hipotiroid dengan kualitas hidup. Untuk mencapai tujuan pertama, akan digunakan metode classification tree dan regresi logistik. Classification tree digunakan untuk memperoleh variabel-variabel penting dalam pengklasifikasian kelas subjek. Kemudian, regresi logistik digunakan untuk mengkuantifikasi risiko dari variabel-variabel yang muncul pada classification tree, faktor-faktor risiko penyakit hipotiroid, dan faktor-faktor penanda penyakit hipotiroid. Berdasarkan analisis, diperoleh bahwa secara keseluruhan faktor-faktor yang berasosiasi pada penelitian ini adalah variabel symptom, physical sign, kebiasaan merokok, jenis kelamin, usia, IMT, hormon TSH (Thyroid Stimulating Hormon) dan fT4 (free tiroksin), serta semua item pada skor Zulewski, kecuali item delayed ankle reflex dan slow movements. Selanjutnya, untuk mencapai tujuan kedua, yaitu mengetahui hubungan penyakit hipotiroid dengan kualitas hidup pasien, akan digunakan metode regresi linear dan crosstab. Berdasarkan hasil dari analisis regresi linear, diperoleh bahwa penyakit hipotiroid cenderung sejalan dengan penurunan kualitas hidup. Pada data penelitian ini, penyakit hipotiroid cenderung memiliki efek terhadap domain fungsi sosial dan emosi, serta berdampak pada peningkatan beberapa gejala, seperti gejala kelelahan, nyeri, insomnia, dan konstipasi, serta meningkatkan masalah kesulitan finansial. Selanjutnya, berdasarkan analisis crosstab, diperoleh bahwa seseorang yang memiliki penyakit hipotiroid berisiko sekitar enam kali lebih besar untuk memiliki trend kualitas hidup yang turun dibandingkan seseorang yang normal.

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Nasopharyngeal cancer is an abnormal cell growth that develops around the nasopharynx. Nasopharyngeal cancer is the fourth common cancer in Indonesia. Treatment of nasopharyngeal cancer patients includes chemotherapy, radiotherapy, or a combination of both. Both of these treatments have side effects in patients who can be acute (less than 3 months) or chronic (more than 3 months). In this study, we will focus on hypothyroidism as a side effect of radiotherapy in the treatment of patients with nasopharyngeal cancer. Hypothyroidism is a condition when the thyroid gland is unable to produce enough thyroid hormone. This study has two main objectives, namely identifying the factors associated with hypothyroidism and knowing the relationship of hypothyroidism with quality of life. To achieve the first objective, classification tree and logistic regression methods will be used. Classification tree is used to obtain important variables in the classification of subject classes. Then, logistic regression is used to quantify the risk of variables that appear in the classification tree, hypothyroidism risk factors, and hypothyroidism marker factors. Based on the analysis, it was found that overall the factors associated in this study were variable symptom, physical sign, smoking habits, sex, age, BMI, TSH (Thyroid Stimulating Hormone) and fT4 (free thyroxine) hormone, and also all items on Zulewski's score, except items delayed ankle reflex and slow movements. Furthermore, to achieve the second goal, linear regression and crosstab methods will be used. Based on the results of linear regression analysis, it was found that hypothyroidism tends to reduce quality of life. In this research data, hypothyroidism tends to have an effect on the domain of social and emotional functioning, and has an impact on improving several symptoms, such as symptoms of fatigue, pain, insomnia, and constipation, and also increasing the problem of financial difficulties. Furthermore, based on the crosstab analysis, it was found that someone who has hypothyroidism is about six times more likely to have a decreased quality of life trend than someone who is normal.

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"Co-occurrence of cyanotic congenital heart disease (CCHD) and phaeochromocytoma (PCC) and paraganglioma (PGL) are rare, although some cases have been reported. We report a case of left paraganglioma in a 20-year-old lady with an underlying CCHD who underwent palliative Glenn shunt, subsequently developed polycythaemia and cavernous sinus thrombosis presented with palpitation, sweating, headache and hypertension of 3-months duration at the age of 17. The abdominal CT scan revealed an enhancing left paraaortic mass measuring 5.2 cm x 4.4 cm x 3.8 cm. A 24-hour urine catecholamine demonstrated raised noradrenaline level to six times upper limit of normal and hence diagnosis of left sympathetic (sPGL) was made. In view of the delayed diagnosis and significant morbidity associated with her condition, surgical treatment is no longer an option. Therefore, vigilant screening and early treatment of PCC-PGL in patients with CCHD are crucial in order to avoid significant morbidity and ensure a good quality of life."

"Latar belakang: Kekurangan gizi merupakan penyebab umum morbiditas pada anak dengan penyakit jantung bawaan (PJB). Data dari negara berkembang memperlihatkan prevalensi malnutrisi penderita dengan PJB sebelum dioperasi mencapai 45%. Penelitian ini bertujuan untuk mengetahui profil anhropometrik dan prevalensi kekurangan gizi pada anak dengan PJB dengan melakukan pengukuran anthropometrik.Metode: Penelitian ini merupakan penelitian dengan rancang bangun cross sectional pada anak berusia 0-2 tahun dengan PJB di RSCM. Pengukuran antropometri (berat badan, panjang badan, lingkar kepala) dilakukan pada seluruh pasien. Kekurangan gizi, failure to thrive/FTT, perawakan pendek, mikrosefali dinilai dengan menggunakan rekomendasi WHO tahun 2006, berupa perhitungan z-skor BB/PB, BB/U di 2 titik, PB/U dan LK/U < -2 SD.Hasil: Total subyek dalam penelitian ini berjumlah 95 orang, 73 orang dengan asianotik dan 22 orang dengan PJB sianotik. Prevalensi kekurangan gizi sebesar 51,1% dengan 22,3% diantaranya adalah gizi buruk. FTT terdapat pada 64,9%, perawakan pendek pada 49,5% dan mikrosefali pada 37% pasien. FTT ditemukan lebih banyak pada pasien dengan lesi asianotik (72,2%) dibandingkan dengan lesi sianotik (42,9). Pada lesi asianotik, berat badan lebih dipengaruhi daripada panjang badan (72,2% dengan 49,3%). Pasien dengan lesi sianotik, berat dan panjang badan akan dipengaruhi secara seimbang (42,9% dengan 54.5%). Konsultasi diet diberikan kepada pasien dengan kekurangan gizi. Terapi obat-obatan, intervensi transkateter atau bedah diindikasikan pada pasien tertentu.Kesimpulan: Prevalensi FTT lebih tinggi dibandingkan dengan kekurangan gizi pada anak dengan kelainan jantung kongenital. FTT ditemukan lebih banyak pada pasien dengan lesi asianotik. Pada lesi asianotik, berat badan lebih dipengaruhi daripada panjang badan. Pada lesi asianotik, berat badan lebih dipengaruhi daripada panjang badan.

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AbstractBackground: Undernutrition is a common cause of morbidity in children with CHD. Previous data from developing country showed prevalence of preoperative undernutrition in children with CHD was up to 45%. The aim of this study are to determine the anthropometric profi les and prevalence of undernutrition in children with CHD by using the anthropometric measurement.Methods: A cross-sectional study was carried out in children aged 0-2 years old with CHD in Cipto Mangunkusumo hospital. All patients underwent an anthropometric evaluation (weight, length and head circumference) at presentation. Undernutrition, failure to thrive /FTT, short stature and microcephaly were determined according to WHO, weight-forlength, weight-for-age at 2 points, length-for-age, head circumference-for-age z-score < -2SD accordingly.Results: We had total of 95 patients, 73 patients with acyanotic and 22 patients with cyanotic lesions. Prevalence of undernutrition in CHD was 51.1%, with 22.3% severe undernutrition. FTT was found in 64.9%, short stature in 49.5% and microcephaly in 37% patients. FTT was found higher in acyanotic (72.2%) compared to cyanotic lesions (42.9%). In acyanotic, weight was affected more than length (72.2% vs 49.3%). In cyanotic, weight and length affected equally (42.9% vs 54.5%). Diet counseling were done in patients with undernutrition. Medicines, transcatheter or surgery intervention were indicated in selected patients.Conclusions: Prevalence of FTT was higher than undernutrition in children with CHD. FTT was found higher in acyanotic lesions. In acyanotic, weight was affected more than length. In cyanotic, weight and length affected equally. "

"ABSTRAKPenyakit jantung bawaan (PJB) mengakibatkan morbiditas yang signifikan pada anak dan merupakan penyebab kematian utama dari antara kelainan kongenital lainnya. Usaha preventif PJB dengan cara identifikasi faktor risiko maternal diharapkan dapat menurunkan morbiditas dan mortalitas PJB.Tujuan. Penelitian ini bertujuan untuk mengetahui: (1) karakteristik (usia saat pertama kali terdiagnosis, jenis kelamin, status gizi, dan status ekonomi keluarga) penderita PJB anak di Poliklinik Kardiologi Ilmu Kesehatan Anak (IKA) Rumah Sakit Cipto Mangunkusumo (RSCM), (2) faktor risiko maternal yang diperkirakan mempengaruhi terjadinya PJB pada anak, yaitu: merokok aktif dan pasif selama kehamilan, diabetes melitus, obesitas, infeksi rubela saat kehamilan, usia saat kehamilan, dan pendidikan.Metode. Penelitian kasus kontrol dengan consecutive sampling dilakukan di Poliklinik Kardiologi IKA RSCM pada bulan Januari-Maret 2014. Pemeriksaan klinis, ekokardiografi, dan wawancara dilakukan terhadap 68 subjek PJB (kelompok kasus) dan 68 subjek anak sehat (kelompok kontrol).Hasil. Jumlah subjek penelitian sebanyak 136 subjek, dengan perbandingan kasus:kontrol adalah 1:1. Median (rentang) usia subjek saat diagnosis PJB adalah 5,5 (0,5-180) bulan, sebesar 80,9% terdiagnosis saat berusia kurang dari 1 tahun. Sebagian besar subjek PJB adalah perempuan (57,4%), mengalami malnutrisi (51,5%), dengan 7,4% di antaranya merupakan gizi buruk, dan memiliki status ekonomi keluarga menengah ke bawah (76,5%). Defek PJB non sianotik terbanyak adalah defek septum ventrikel (44,1%) dan PJB sianotik terbanyak adalah Tetralogi Fallot (14,7%). Faktor risiko maternal yang terbukti berhubungan bermakna dengan PJB anak adalah tingkat pendidikan ibu yang rendah. Faktor risiko merokok aktif dan pasif saat kehamilan, obesitas, dan usia ibu saat kehamilan tidak terbukti berhubungan dengan PJB anak, sedangkan faktor diabetes melitus dan infeksi rubela saat kehamilan tidak dapat dianalisis pada penelitian ini.Simpulan. Median (rentang) usia subjek saat diagnosis PJB adalah 5,5 (0,5-180) bulan, sebagian besar subjek terdiagnosis saat berusia kurang dari 1 tahun (80,9%). Sebagian besar subjek PJB adalah perempuan (57,4%), mengalami malnutrisi (51,5%), dan 7,4% di antaranya merupakan gizi buruk, dengan status ekonomi keluarga menengah ke bawah (76,5%). Faktor risiko maternal yang terbukti berhubungan bermakna dengan PJB anak adalah tingkat pendidikan ibu yang rendah.

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ABSTRACTCongenital heart defects (CHD) cause significant morbidities and are the leading cause of death among other congenital anomalies. Preventive measures with identification of maternal risk factors are expected to decrease morbidity and mortality rate in children due to CHD.Objectives. This study aimed to define: (1) characteristics (age at diagnosis, gender, nutritional status, and family’s economy status) of CHD patients in Pediatric Cardiology Clinic Cipto Mangunkusumo Hospital (CMH), (2) maternal risk factors that may influence CHD in children, namely: active and passive smoking in pregnancy, diabetes mellitus, obesity, rubella infection in pregnancy, age at pregnancy, and education.Method. Case-control study with consecutive sampling was performed in Pediatric Cardiology Clinic CMH in January-March 2014. Clinical examination, echocardiography, and interview were performed in 68 CHD subjects (case group) and 68 healthy subjects (control group).Results. Total subject in this study was 136, with ratio of case:control is 1:1. Median (range) of subject’s age at diagnosis was 5.5 (0.5-180) months, and 80.9% were diagnosed in the first year of age. Most of the subjects were female (57.4%), were malnourished (51.5%) with 7.4% were severe malnourished, and were from middle to low income family (76.5%). The most prevalent non cyanotic CHD was ventricle septal defect (44.1%), and the most prevalent cyanotic CHD was Tetralogy of Fallot (14.7%). Maternal risk factor that was significantly associated with CHD was low maternal education. Active and passive smoking in pregnancy, obesity, and maternal age at pregnancy were not associated with CHD, whereas diabetes mellitus and rubella infection in pregnancy could not be analyzed in this study.Conclusion. Median (range) of subject’s age at diagnosis was 5.5 (0.5-180) months, and mostly were diagnosed in the first year of age (80.9%). Most of the subjects were female (57.4%), were malnourished (51.5%) with 7.4% were severe malnourished, and were from middle to low income family (76.5%). Maternal risk factor that was significantly associated with CHD was low maternal education."