Pheochromocytoma in Congenital Cyanotic Heart Disease
المؤلفون المشاركون
Benedini, Stefano
Tufano, Antonietta
Luzi, Livio
Aresta, Carmen
Butera, Gianfranco
Grassi, Giorgia
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-4، 4ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-09-25
دولة النشر
مصر
عدد الصفحات
4
التخصصات الرئيسية
الملخص EN
Studies on genome-wide transcription patterns have shown that many genetic alterations implicated in pheochromocytoma-paraganglioma (P-PGL) syndromes cluster in a common cellular pathway leading to aberrant activation of molecular response to hypoxia in normoxic conditions (the pseudohypoxia hypothesis).
Several cases of P-PGL have been reported in patients with cyanotic congenital heart disease (CCHD).
Patients affected with CCHD have an increased likelihood of P-PGL compared to those affected with noncyanotic congenital heart disease.
One widely supported hypothesis is that chronic hypoxia represents the determining factor supporting this increased risk.
We report the case of a 23-year-old woman affected with congenital tricuspid atresia surgically by the Fontan procedure.
The patient was admitted to hospital with hypertensive crisis and dyspnea.
Chest computed tomography revealed, incidentally, a 6-cm mass in the left adrenal lodge.
Increased levels of noradrenaline (NA) and its metabolites were detected (plasma NA 5003.7 pg/ml, n.v.<480; urinary NA 1059.5 µg/24 h, n.v.<85.5; urinary metanephrine 489 µg/24 h, n.v.<320).
The patient did not report any additional symptom related to catecholamine excess.
The left adrenal tumor showed abnormal accumulation when 131I-metaiodobenzylguanidine scintigraphy was performed.
A 18F-fluorodeoxyglucose positron emission tomography showed no significant metabolic activity in the left adrenal gland but intense uptake in the supra- and subdiaphragmatic brown adipose tissue, probably due to noradrenergic-stimulated glucose uptake.
The patient underwent left open adrenalectomy after preconditioning with α- and β-blockers and histopathological examination confirmed the diagnosis of pheochromocytoma (Ki-67<5%).
Screening for germline mutations did not show any genes mutation (investigated mutations: RET, TMEM127, MAX, SDHD, SDHC, SDHB, SDHAF2, SDHA, and VHL).
Clinicians should consider P-PGL when an unexplained clinical deterioration occurs in CCHD patients, even in the absence of typical paroxysmal symptoms.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Aresta, Carmen& Butera, Gianfranco& Tufano, Antonietta& Grassi, Giorgia& Luzi, Livio& Benedini, Stefano. 2018. Pheochromocytoma in Congenital Cyanotic Heart Disease. Case Reports in Endocrinology،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1142905
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Aresta, Carmen…[et al.]. Pheochromocytoma in Congenital Cyanotic Heart Disease. Case Reports in Endocrinology No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1142905
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Aresta, Carmen& Butera, Gianfranco& Tufano, Antonietta& Grassi, Giorgia& Luzi, Livio& Benedini, Stefano. Pheochromocytoma in Congenital Cyanotic Heart Disease. Case Reports in Endocrinology. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1142905
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1142905
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر