Tinton Pristianto | Universitas Airlangga (original) (raw)
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Papers by Tinton Pristianto
Cardiovascular and Cardiometabolic Journal (CCJ), 2021
Introduction: Noonan syndrome (NS) is a genetic disorder often accompanied by multiple congenital... more Introduction: Noonan syndrome (NS) is a genetic disorder often accompanied by multiple congenital abnormalities. The prevalence of NS at live birth has been reported as one in 1000-2500 individuals. About 80% of patients with Noonan syndrome have abnormalities in the cardiovascular system.Case presentation:41-year-old Javanese male presented with chief complaint shortness of breath. His Body Mass Index (BMI) was 18,3. He had an oval-shaped face with a short neck, thin hair, and prominent nasolabial fold. Echocardiography showed biventricular hypertrophy alongside pulmonary valve stenosis, pulmonary regurgitation and minimal pericardial effusion. Discussion: In 1962, Jacqueline Noonan, a pediatric cardiologist, identified 9 patients whose faces were very similar, had short stature, significant chest deformities, and with pulmonary stenosis. Noonan syndrome is a relatively common non-chromosomal syndrome that is similar to the phenotype of Turner's syndrome and presents with card...
Cardiovascular and Cardiometabolic Journal (CCJ), 2021
Introduction: Noonan syndrome (NS) is a genetic disorder often accompanied by multiple congenital... more Introduction: Noonan syndrome (NS) is a genetic disorder often accompanied by multiple congenital abnormalities. The prevalence of NS at live birth has been reported as one in 1000-2500 individuals. About 80% of patients with Noonan syndrome have abnormalities in the cardiovascular system.Case presentation:41-year-old Javanese male presented with chief complaint shortness of breath. His Body Mass Index (BMI) was 18,3. He had an oval-shaped face with a short neck, thin hair, and prominent nasolabial fold. Echocardiography showed biventricular hypertrophy alongside pulmonary valve stenosis, pulmonary regurgitation and minimal pericardial effusion. Discussion: In 1962, Jacqueline Noonan, a pediatric cardiologist, identified 9 patients whose faces were very similar, had short stature, significant chest deformities, and with pulmonary stenosis. Noonan syndrome is a relatively common non-chromosomal syndrome that is similar to the phenotype of Turner's syndrome and presents with card...