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Combined cardiac anomalies in Noonan syndrome: A case report

التفاصيل البيبلوغرافية
العنوان: Combined cardiac anomalies in Noonan syndrome: A case report
المؤلفون: C.N. Manjunath, T.R. Raghu, M Nithin, Jayashree Kharge, N Chethan, Rahul Patil, Babu Reddy, S Shankar, Sandeep Shankar, Sathwik Raj, H.S. Natraj Setty, M C Yeriswamy, Santosh Jadhav
المصدر: International Journal of Surgery Case Reports
بيانات النشر: Elsevier, 2020.
سنة النشر: 2020
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Percutaneous, animal structures, Heart disease, Balloon, ASD, Article, 2D-Echocardiography, 03 medical and health sciences, 0302 clinical medicine, Biventricular hypertrophy, Internal medicine, Case report, medicine, Noonan syndrome, cardiovascular diseases, skin and connective tissue diseases, business.industry, Hypertrophic cardiomyopathy, medicine.disease, Stenosis, 030220 oncology & carcinogenesis, Concomitant, Cardiology, 030211 gastroenterology & hepatology, Surgery, business
الوصف: Highlights • Noonan syndrome is the second most common syndromic cause of CHD. • We present a rare case of Noonan syndrome having a combination of ASD, PS and HCM. • Patient underwent balloon valvotomy for pulmonary stenosis. • The patient is under regular follow-up and awaiting heart transplant.
Introduction Noonan syndrome is the second most common syndromic cause of congenital heart disease. Most patients have an autosomal dominant inheritance, but some cases may be sporadic. Pulmonary stenosis is the most common cardiac manifestation in Noonan syndrome, associated with the atrial septal defect and hypertrophic cardiomyopathy. A combination of these three is present only in 5% of patients. Presentation of case We report a case of a 21-year-old female who presented to our hospital concomitant cardiac lesions associated with pulmonary stenosis, atrial septal defect, and hypertrophic cardiomyopathy. This combination of cardiac defects is an infrequent manifestation of Noonan syndrome. The patient presented with complaints of exertion syncope over the past two years. 2D-Echocardiography showed biventricular hypertrophy, dysplastic pulmonary valve, severe pulmonary stenosis, asymmetric septal hypertrophy and large atrial septal defect. The genetic analysis report showed autosomal dominant inheritance with Ras/MAPK (mitogen-activated protein kinase) Positive. Discussion Due to the wide spectrum of symptoms and presentations in Noonan cases, accurate clinical and genetic diagnosis, and comprehensive management of the disorder are strongly recommended. Conclusion We have described a case of rare combination of cardiovascular defects in Noonan Syndrome with a view to achieve better insight into the disease course and advantages of timely treatment and follow up. Our patient is currently in follow-up after treatment with percutaneous balloon pulmonary valvuloplasty, has improved symptoms, and is awaiting heart transplant.
اللغة: English
تدمد: 2210-2612
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fd9ef1556310ab2a89cc33d1911e1e1
http://europepmc.org/articles/PMC7276397
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....4fd9ef1556310ab2a89cc33d1911e1e1
قاعدة البيانات: OpenAIRE
الوصف
تدمد:22102612