Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0392680 (shortness of breath)
 5,217 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 24-year-old female with a history of medullary thyroid carcinoma who presented at 38 weeks gestation with acute chest pain and shortness of breath. She was found to be in pulmonary edema and respiratory failure. An emergency cesarean section was performed. Subsequently, an echocardiogram revealed an ejection fraction of 10%. After medical therapy with digoxin, milrinone, captopril and diuretics, her condition improved rapidly and a repeat echocardiogram showed that the left ventricular function had normalized. Diagnosis of pheochromocytoma was made by urine and plasma catecholamine measurements. Magnetic resonance imaging revealed a 3.7 cm left adrenal mass. Increased uptake activity was seen in the same region by an (131)I-metaiodobenzylguanidine (MIBG) scan. The patient underwent successful surgical resection of the pheochromocytoma. Subsequent DNA analysis revealed that the patient had a mutation of the RET proto-oncogene. The same mutation was also found in several of her family members. In summary, we report a case of multiple endocrine neoplasia 2A presenting as peripartum cardiomyopathy and cardiovascular collapse. Pheochromocytoma should be considered as a potential cause of peripartum cardiomyopathy.
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PMID:Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess. 1558 45

A 7-year-old girl presented with decreased vision in both eyes for 1 month. Examination showed visual acuity of 20/50 and 20/60, no afferent pupillary defect, cecocentral scotomas, and bilateral optic disc edema with extensive peripapillary and macular exudates. Magnetic resonance imaging showed multiple cortical and subcortical white matter lesions. Both the laboratory workup and the systemic examination were unrevealing. However, on follow-up, the patient showed episodic elevations of blood pressure as high as 240/160. Further workup revealed elevated urine catecholamines and a right supra-adrenal mass proven to be a pheochromocytoma by histopathologic analysis. The paroxysmal hypertension resolved, and the visual acuity, visual fields, fundus exam, and neuroimaging improved. The patient was lost to follow-up until age 18 when she developed shortness of breath and was found to have multiple pulmonary metastases identified as pheochromocytoma by biopsy. Genetic testing identified a 3p25-26 (c.482 G>A) VHL gene chromosomal mutation consistent with von Hippel-Lindau disease genotype. Multiple peripheral retinal vascular dilations and small retinal capillary hemangioblastomas were also found. This case highlights the importance of recognizing the lability of blood pressure often seen with pheochromocytomas, which may mask the underlying cause of hypertensive papillopathy and retinopathy, a diagnosis of low clinical suspicion in the pediatric population. The case also underscores the importance of thorough systemic workup, including genotyping to detect conditions where pheochromocytoma may be the presenting sign of the disease, such as multiple endocrine neoplasia 2A and 2B, von Hippel-Lindau disease, von Recklinghausen disease, tuberous sclerosis, and Sturge-Weber syndrome.
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PMID:Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. 2470 67

Twenty-two paragangliomas from different anatomical sites and 24 thymic neuroendocrine carcinomas (carcinoid tumors) were analyzed for traditional and novel immunohistochemical markers. In the paraganglioma group, there were 8 men and 14 women between the ages of 23 and 79 years (mean, 46 years). Their symptoms depended on the location of the tumor and included neck swelling and Horner syndrome for neck tumors, whereas abdominal and chest pain was present in tumors of the abdomen and mediastinum, respectively. One patient had Carney triad. In the carcinoid group, the patients were 20 men and 4 women between the ages of 25 and 78 years (mean, 48 years). These patients were symptomatic with chest pain, shortness of breath, and dyspnea. One patient presented with multiple endocrine neoplasia syndrome. Complete surgical resection was accomplished in all patients. The 46 neuroendocrine tumors were evaluated for GATA-3, pancytokeratin, thryoid transcription factor 1 (TTF-1), napsin A, chromogranin A, and synaptophysin. All paragangliomas were universally positive for chromogranin A and synaptophysin, but negative for pancytokeratin, TTF-1, and napsin A. GATA-3 was expressed in 12 (55%) of 22 tumors. The thymic neuroendocrine carcinomas (carcinoid tumors) were universally positive for pancytokeratin, but negative for GATA-3 and napsin A. Chromogranin A and synaptophysin were expressed in 92% and 88% of cases, respectively, and TTF-1 in 4 (17%) of 24 cases. Based on these results, we recommend that the workup of neuroendocrine tumors should include not only the conventional neuroendocrine markers and pancytokeratin but also other markers such as GATA-3 and TTF-1 in order to arrive at a better interpretation.
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PMID:Thymic neuroendocrine tumors (paraganglioma and carcinoid tumors): a comparative immunohistochemical study of 46 cases. 2529 72