Backgrounds: The COngenital HeARt Disease in adult and Pulmonary Hypertension (COHARD-PH) registry is the first registry for congenital heart disease (CHD) and CHD-related pulmonary hypertension (PH) in adults in Indonesia. The study aims to describe the demographics, clinical presentation, and hemodynamics data of adult CHD and CHD-related PH in Indonesia. Methods: The COHARD-PH registry is a hospital-based, single-center, and prospective registry which includes adult patients with CHD and CHD-related PH. The patients were enrolled consecutively. For this study, we evaluated the registry patients from July 2012 until July 2019. The enrolled patients underwent clinical examination, electrocardiography, chest x-ray, 6-min walking test, laboratory measurement, and transthoracic and transesophageal echocardiography. Right heart catheterization was performed to measure hemodynamics and confirm the diagnosis of pulmonary artery hypertension (PAH). Results: We registered 1012 patients during the study. The majority were young, adult females. The majority of CHD was secundum ASD (73.4%). The main symptom was dyspnea on effort. The majority of patients (77.1%) had already developed signs of PH assessed by echocardiography. The Eisenmenger syndrome was encountered in 18.7% of the patients. Based on the right heart catheterization, 66.9% of patients had developed PAH. Patients with PAH were significantly older, had lower peripheral oxygen saturation, had lower 6-min walking distance, and higher NTproBNP. The NTproBNP level independently predicted the development of PAH among CHD.

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Background NKX2-5 variant in atrial septal defect patients has been reported. However, it is not yet been described in the Southeast Asian population. Here, we screened the NKX2-5 variants in patients with atrial septal defect (ASD) in the Indonesian population. Method We recruited 97 patients with ASD for genetic screening of the NKX2-5 variant using Sanger sequencing. Results We identified three variants of NKX2-5: NM_004387.4:c.63A>G at exon 1, NM_004387.4:c.413G>A, and NM_004387.4:c.561G>C at exon 2. The first variant is commonly found (85.6%) and benign. The last two variants are heterozygous at the same locus. These variants are rare (3.1%) and novel. Interestingly, these variants were discovered in familial atrial septal defects with a spectrum of arrhythmia and severe pulmonary hypertension. Conclusion Our study is the first report of the NKX2-5 variant in ASD patients in the Southeast Asian population, including a novel heterozygous variant: NM_004387.4:c.413G>A and NM_004387.4:c.561G>C. These variants might contribute to familial ASD risk with arrhythmia and severe pulmonary hypertension. Functional studies are necessary to prove our findings.

Backgrounds: The COngenital HeARt Disease in adult and Pulmonary Hypertension (COHARD-PH) registry is the first registry for congenital heart disease (CHD) andCHD-related pulmonary hypertension (PH) in adults in Indonesia.The study aims to describethe demographics, clinical presentation, and hemodynamics data of adult CHD and CHD-related PH in Indonesia. Methods: The COHARD-PH registry is a hospital-based, single-center, and prospective registry which includes adult patients with CHD and CHD-related PH. The patients were enrolled consecutively. For this study, we evaluatedthe registry patients from July 2012 until July 2019. The enrolled patients underwent clinical examination, electrocardiography, chest x-ray, 6-minute walking test, laboratory measurement, and transthoracic and transesophageal echocardiography. Right heart catheterization was performed to measure hemodynamics and confirmthe diagnosis of pulmonary artery hypertension (PAH). Results: We registered 1012 patients during the study.The majority were young, adult females.The majority of CHD was secundum ASD (73.4%). The main symptom was dyspnea on effort. The majority of patients (77.1%)had already developed signs of PH assessed by echocardiography. The Eisenmenger syndrome was encountered in 18.7% of the patients. Based on the right heart catheterization, 66.9% of patients had developed PAH. Patients with PAH were significantly older,had lower peripheral oxygen saturation, had lower 6-minute walking distance, and higher NTproBNP. The NTproBNP level independently predicted the development of PAH among CHD. Conclusions: The COHARD-PH registry is the first Indonesian adult-CHD and CHD-related PH registry. The demographics, clinical presentation, and hemodynamics dataof this registry reflect the situation in developing countries which needs to be compared with similar registries from developed countries.

Backgrounds: The COngenital HeARt Disease in adult and Pulmonary Hypertension (COHARD-PH) registry is the first congenital heart disease (CHD) and CHD-related pulmonary hypertension (PH) in adults registry in Indonesia. The study aims to describe prevalence, characteristics, and hemodynamic the demographics, clinical presentation, and hemodynamics data of adult CHD and CHD-related PH in Indonesia. Methods: The COHARD-PH registry is a hospital-based, single-center, and prospective registry which includes adult patients with CHD and CHD-related PH. The patients were enrolled consecutively. For this study, we evaluated the registry patients from July 2012 until July 2018 2019. The enrolled patients underwent clinical examination, electrocardiography, chest x-ray, 6 minute walking test, laboratory measurement, and transthoracic and transoesofageal echocardiography. Right heart catheterisation was performed to measure hemodynamics and confirmed the diagnosis of pulmonary artery hypertension (PAH). Results: We registered 803 1012 patients during the study. The majority were young-adult females. The majority of CHD was secundum ASD (79.0%) (73.4%). The main symptom was dyspneu on effort. The majority of patients (78.1%) (77.1%) had already developed signs of PH assessed by echocardiography. The Eisenmenger syndrome was encountered in 17.3% 18.7% patients. Based on the right heart catheterisation, 67.8% 66.9% patients had developed PAH. Patients with PAH were significantly older, had lower peripheral oxygen saturation, had lower 6 minute walking distance, and had higher NTproBNP. There was an increased of proportion of PAH prevalence according to age range, with the highest prevalence between 51 and 60 years old. Conclusions: The COHARD-PH registry is the first Indonesian adult-CHD and CHD-related PH registry. The prevalence, characteristics, and hemodynamics data demographics, clinical presentation, and hemodynamics data of this registry reflects situation in developing countries which need to be compared with similar registries from developed countries.