Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess.
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.
Kim
Jaime
J
Department of Medicine, University of Chicago, Chicago, Illinois 60637, USA. jkim7@medicine.bsd.uchicago.edu
Reutrakul
Sirimon
S
Davis
Dawn Belt
DB
Kaplan
Edwin L
EL
Refetoff
Samuel
S
D019797:3-Iodobenzylguanidine; D000310:Adrenal Gland Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000378:metabolism; D000311:Adrenal Glands / Q000473:pathology; D000315:Adrenalectomy; D000328:Adult; D009202:Cardiomyopathies / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology*; D002395:Catecholamines / Q000502:physiology*; D005260:Female; D006801:Humans; D007743:Labor, Obstetric; D008676:Metanephrine / Q000097:blood; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis* / Q000000981:diagnostic imaging; D010375:Pedigree; D010673:Pheochromocytoma / Q000150:complications / Q000000981:diagnostic imaging / Q000378:metabolism; D049268:Positron-Emission Tomography; D011247:Pregnancy; D000090063:Proto-Oncogene Mas; D019275:Radiopharmaceuticals; D013964:Thyroid Neoplasms / Q000150:complications / Q000601:surgery; D014057:Tomography, X-Ray Computed
D002395:Catecholamines; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019275:Radiopharmaceuticals; D019797:3-Iodobenzylguanidine; D008676:Metanephrine