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)

Severe cardiac arrhythmias (Lown class IVa), rapid loss of physical capacity and dyspnoea on the slightest exertion occurred in a 55-year-old man with idiopathic dilated cardiomyopathy. In the preceding year he had recurrent diarrhoea and lost 23 kg in weight. He was found to have hypercalcaemia (3-3.2 mmol/l). The heart failure significantly improved under treatment with twice daily 12.5 mg captopril, 100 mg spironolactone daily, furosemide 40 mg twice daily, and digitoxin 0.07 mg daily. The arrhythmia responded to verapamil 80 mg and quinidine 160 mg, both drugs three times daily. Primary hyperparathyroidism was found to be the cause of the hypercalcaemia (parathormone 84 pmol/l). After the parathyroid adenoma had been removed the patient's condition again improved markedly. There were only rare monotopic extrasystoles, cardiac size regressed, and diuretics were no longer necessary. His medication at present is verapamil (80 mg three times daily), captopril (12.5 mg three times daily) and digitoxin (0.07 mg daily). It is concluded that the hypercalcaemia influenced the severity of the cardiomyopathy. It would seem that both intra- and extracellular calcium homoeostasis is of great importance in dilated cardiomyopathy.
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PMID:[The coincidence of rapidly progressing dilated cardiomyopathy and primary hyperparathyroidism. The course before and after the removal of a parathyroid adenoma]. 173 86

A 72-year-old woman presented to hospital with rapidly progressive dyspnea and chest pain on exertion. Physical findings included a grade 3/6 systolic murmur increased by the Valsalva manoeuvre. Transthoracic echocardiography revealed concentric left ventricular hypertrophy, systolic anterior motion of the mitral valve and critical dynamic outflow tract obstruction. The myocardium was strikingly heterogeneous with hyperdynamic left ventricular systolic function. Laboratory findings included severe hypercalcemia secondary to primary hyperparathyroidism. The patient's outcome was unfavourable with nephrogenic diabetes insipidus, pancreatitis, shock, severe acidosis and death. Postmortem examination confirmed the presence of severe concentric left ventricular hypertrophy, a narrowed left ventricular outflow tract and localized endocardial fibrosis of the left interventricular septum. Microscopic findings showed diffuse calcium deposits of the myocardium, coronary arteries, kidneys and lungs. This appears to be the first report of two-dimensional and Doppler echocardiographic findings in hypercalcemic cardiomyopathy mimicking obstructive hypertrophic cardiomyopathy.
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PMID:Hypercalcemic cardiomyopathy associated with primary hyperparathyroidism mimicking primary obstructive hypertrophic cardiomyopathy. 985 22

Primary hyperparathyroidism during pregnancy results in a high rate of fetal complications and maternal morbidity. Maternal hypercalcemia in pregnancy results in fetal hypercalcemia, which leads to suppression of fetal parathyroid function. Spontaneous abortion and stillbirth can occur, and the loss of maternal calcium after birth leads to neonatal hypocalcemia. It is essential to detect primary hyperparathyroidism during pregnancy because early diagnosis and management can decrease the rate of fetal and maternal complications. We present the case of a 27-year-old gravida 1, para 0 woman whose pregnancy was complicated by hyperparathyroidism and arrhythmia. The patient complained of dyspnea and palpitations in the seventh and 15th weeks of gestation. Electrocardiography showed ventricular premature contraction bigeminy and trigeminy in association with hypercalcemia (3.3 mmol/L). A parathyroidectomy in the second trimester revealed parathyroid adenoma. Hypercalcemia and arrhythmia resolved completely and the patient delivered a term baby without any maternal or fetal complications. The simultaneous occurrence of arrhythmia with ventricular premature contractions and hyperparathyroidism in pregnancy is rarely reported. Palpitations and dyspnea due to arrhythmia may be associated with primary hyperparathyroidism in pregnancy and should be considered in the differential diagnosis. In the management of symptomatic primary hyperparathyroidism during pregnancy, surgical intervention is preferable in the second trimester when organogenesis is completed and the risk of spontaneous abortion is low.
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PMID:Pregnancy complicated by concurrent primary hyperparathyroidism and arrhythmia. 1087 Mar 20

Pheochromocytoma may infrequently lead to dilated cardiomyopathy, which may reverse partially or completely after treatment. Progressive dyspnea, palpitations, and paroxysmal attacks of severe hypertension leading to cardiac failure had developed in a 25-yr-old woman. Chest radiography and echocardiography revealed a massive 4-chamber dilatation of the heart with an ejection fraction of 12%. Twenty-four-h urinary vanillylmandelic acid and metanephrine levels were elevated. Magnetic resonance imaging detected a large mass lesion in the right adrenal gland. Oral glucose tolerance testing revealed diabetes mellitus. Medical drug therapy with alpha-blocker, angiotensin converting enzyme inhibitor, beta-blocker, digoxin, and diuretic rapidly improved her cardiac condition. Repeat echocardiogram showed that the left ventricular function had improved substantially. The clinical condition of excess catecholaminemia (and thus, arterial hypertension and the abnormality of the glucose metabolism) subsided with complete resolution of the congestive heart failure following the surgical removal of the tumor. Evaluation for medullary thyroid carcinoma (MTC) revealed an elevated calcitonin level demonstrated by fine needle aspiration biopsy. There were no biochemical evidences for primary hyperparathyroidism. Multiple endocrine neoplasia 2 (MEN 2A) syndrome was diagnosed. An overwhelming secretion of catecholamine might cause severe cardiomyopathy and impair glucose metabolism, as evidenced by the improvement of both conditions following the medical treatment of catecholaminemia and surgical resection of the tumor.
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PMID:Severe reversible dilated cardiomyopathy in a patient with multiple endocrine neoplasia 2A syndrome. 1669 5

Spontaneous retropharyngeal hemorrhage from a cervical parathyroid adenoma is a rare complication of primary hyperparathyroidism. Because of its rarity, it has seldom been documented in the radiologic or ENT literature. Patients may present with a variety of manifestations, ranging from dysphagia to dysphonia to life-threatening dyspnea or hemorrhage. Awareness of a possible thyroid or parathyroid etiology may expedite treatment and prevent unnecessary interventions. We present a case of spontaneous retropharyngeal hemorrhage in which the "sentinel clot" sign enabled us to identify the lesion of origin.
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PMID:The 'sentinel clot' sign in spontaneous retropharyngeal hematoma secondary to parathyroid apoplexy. 1704 30

A case of parathyroid adenoma causing a spontaneous cervical hematoma is reported. A 55-year-old woman presented with painful swallowing, dysphagia, and dyspnea. Primary hyperparathyroidism and a parathyroid tumor on the left side of the neck had been found 2 years earlier. Fiberoptic laryngoscopy and computed tomography (CT) showed a narrowing of the airway as a result of a retropharyngeal hematoma, and tracheostomy was carried out. Parathyroidectomy was performed 5 months after the absorption of the hematoma, with no complications. A pathological diagnosis revealed a parathyroid adenoma with hemosiderin deposition and fibrosis. Serum calcium and intact parathormone levels normalized postoperatively. Although a spontaneous cervical hematoma resulting from parathyroid tumors rarely occurs, it may lead to an airway compromise. Physicians should be aware of this if such tumors are managed conservatively without surgery.
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PMID:Parathyroid adenoma causing spontaneous cervical hematoma: a case report. 1834 May 89

Metastatic pulmonary calcification, defined as calcium deposition in the intact lung, is commonly seen in patients with chronic renal failure, and it is known to be a benign clinical condition when detected by chance in an asymptomatic patient. Here we report the case of a 33-year-old woman who developed rapid and aggressive metastatic pulmonary calcification shortly after a living donor kidney transplantation, which induced acute antibody-mediated rejection. The patient's metastatic pulmonary calcification was successfully improved by extensive treatment for graft rejection, the correction of her accompanying primary hyperparathyroidism, and medical treatment with a bisphosphonate and sodium thiosulfate. Aggressive pulmonary calcification is reported as a rare complication seen in patients who have undergone a failed renal transplantation. A failed renal graft and accompanying secondary hyperparathyroidism seem to accelerate metastatic calcification. Most of the patients who develop aggressive pulmonary calcification suffer from the rapid progression of dyspnea and occasionally fever, and they die of respiratory failure. Pulmonary calcification should be considered in a patient developing dyspnea and unexplained pulmonary infiltrate, especially in the context of renal graft rejection; otherwise the prognosis of the patient will be very poor.
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PMID:Aggressive pulmonary calcification developed after living donor kidney transplantation in a patient with primary hyperparathyroidism. 2403 59

Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII).We present a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary hyperparathyroidism. She had enjoyed excellent health until her first pregnancy at age 33. One week postpartum, she developed dyspnea and an echocardiogram revealed left ventricular ejection fraction (LVEF) of 35%. A cardiac MRI was consistent with nonischemic cardiomyopathy with an infiltrative process. Endomyocardial biopsy showed striking sarcoplasmic vacuolization, excess glycogen by PAS staining, and frequent membrane-bound glycogen by electron microscopy, consistent with lysosomal GSD. Acid alpha-glucosidase (GAA) activity in skin fibroblasts was in the affected range for Pompe disease. Sequencing of the GAA gene revealed a paternally inherited pathogenic c.525delT (p.Glu176Argfs*45) and a de novo c.309C>G (p.Cys103Trp) with unknown pathogenicity. Testing of the familial mutations in her daughter indicated that the variants in the proband were in trans. 26-gene cardiomyopathy sequencing panel had normal results thereby excluding GSD III, Danon disease, Fabry disease, and PRKAG2-associated cardiomyopathy. Therefore, results strongly suggest a diagnosis of Pompe disease.Pompe disease has a broad disease spectrum, including infantile-onset (IOPD) and late-onset (LOPD) forms. LOPD typically presents with proximal muscle weakness and respiratory insufficiency in childhood or late adulthood. Our case may represent a very unusual presentation of adult LOPD with isolated cardiomyopathy without skeletal muscle involvement or respiratory failure.
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PMID:Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. 2714 47

Objective Identify risk factors for 30-day reoperation and readmission after parathyroidectomy for primary hyperparathyroidism. Study Design Retrospective analysis of the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) database from 2012 through 2014. Subjects and Methods Patients undergoing parathyroidectomy and parathyroid reexploration for primary hyperparathyroidism. Univariate and multivariate analyses were conducted to determine risk factors for reoperation and readmission. Results Of the 9439 patients who underwent parathyroidectomy, 72 patients underwent 1 reoperation in the first 30 days after surgery, and 8 patients underwent 2 reoperations. The most common reasons were hematoma (25%) and persistent hyperparathyroidism (15.9%). Risk factors included smoking (odds ratio [OR], 1.86; 95% confidence interval [CI], 0.97-3.31), insulin-dependent diabetes (OR, 2.38; 95% CI, 1.02-4.86), and history of bleeding disorder (OR, 3.95; 95% CI, 1.48-8.79). In total, 182 (1.9%) patients were readmitted within 30 days of surgery; the most common cause was hypocalcemia (17.0%). Risk factors included operative time (hours) (OR, 1.3; 95% CI, 1.1-1.5), insulin-dependent diabetes mellitus (OR, 2.01; 95% CI, 1.2-3.3), dyspnea with moderate exertion (OR, 5.77; 95% CI, 0.86-14.67), and age (decade) (OR, 1.16; 95% CI, 1.02-1.32). Patients undergoing outpatient surgery were less likely to be readmitted (OR, 0.49; 95% CI, 0.35-0.69) or undergo reoperation (OR, 0.44; 95% CI, 0.27-0.73). Conclusions Thirty-day reoperation rate after parathyroidectomy was low and most commonly occurred due to hematoma. Risk factors for readmission were multifactorial and associated with perioperative factors, patient factors, and medical comorbidities. Preoperative counseling for patients at increased risk of readmission and reoperation may decrease these rates.
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PMID:Predictors of Readmission and Reoperation in Patients Undergoing Parathyroidectomy for Primary Hyperparathyroidism. 2943 75