Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Due to unstable angina pectoris coronary arteriography was performed in a 57 year-old female, showing diffuse 3-vessel disease; aortocoronary bypass surgery was recommended. During routine pre-operative examination hypercalcemia, as well as an elevated value of parathormone were observed. Ultrasonography of the parathyroid glands showed two enlarged cranial glands. In a simultaneous surgical procedure 4 bypass grafts were performed and 4 hyperplastic parathyroid glands were removed, one of which was re-operated as an autotransplantation in the left musculus adductor magnus. Histological examination showed water clear cell hyperplasia of the parathyroid glands. Though the patient had suffered from stomach and duodenal ulcers and nephrolithiasis over several years, primary hyperparathyroidism was diagnosed only after angiographically proven coronary artery disease.
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PMID:[Coronary heart disease as the initial manifestation of primary hyperparathyroidism]. 797 64

A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2). Sequence analysis of LMNA gene showed a heterozygous missense mutation at exon 8 (c.1444C>T) causing amino acid change, p.R482W. She later developed severe coronary artery disease requiring multiple percutaneous coronary interventions and coronary artery bypass surgery. She was later diagnosed with diabetes, primary hyperparathyroidism, and euthyroid multinodular goiter. She had sinus nodal and atrioventricular nodal disease and had an implantable cardioverter defibrillator implantation due to persistent left ventricular dysfunction. The device eroded through the skin few months after implantation and needed a re-implant on the contralateral side. She had atrial flutter requiring ablation. This patient with FPLD2 had most of the reported cardiac complications of FPLD2. This case is presented to improve the awareness of the presentation of this disease among cardiologists and internists.
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PMID:An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. 2750 62