Serum levels of carbohydrate antigen 125 in combination with N-terminal pro-brain natriuretic peptide in patients with acute decompensated heart failure

BACKGROUND/AIMS@#Carbohydrate antigen 125 (CA-125) is an emerging prognostic biomarker for heart failure. We aimed to test the long-term prognostic value of CA-125 in combination with N-terminal pro-brain natriuretic peptide (NT-proBNP) in patients with acute decompensated heart failure (ADHF).@*METHODS@#This observational study included a total of 413 patients (64.1 ± 15.6 year-old, 214 men) with ADHF. All-cause mortality during the 2-year follow-up was investigated for the prognosis.@*RESULTS@#During the follow-up (mean follow-up, 591 ± 233 days), 109 deaths (26.0%) were recorded. In the multivariable analysis model, CA-125 was an independent factor associated with all-cause mortality (log CA-125: hazard ratio, 1.23; 95% confidence interval, 1.02 to 1.48; p = 0.030) together with age, sex, New York Heart Association class, β-blocker, and NT-proBNP. The Kaplan-Meier survival analysis demonstrated that the group with both low marker levels showed the best 2-year survival (87.9%) followed by the group with low NT-proBNP and high CA-125 (76.1%), high NT-proBNP and low CA-125 (64.7%) and high NT-proBNP and high CA-125 levels (54.3%) (p < 0.001). Addition of CA-125 in combination with NT-proBNP and established risk factors further increased the predictive power for mortality in patients with ADHF.@*CONCLUSIONS@#CA-125 was an independent factor associated with all-cause mortality in patients with ADHF. Combination of CA-125 with NT-proBNP significantly improved the prediction of mortality in patients with ADHF.

Fabry Cardiomyopathy

Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the alpha-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. In the heart, glycosphingolipids deposition causes progressive left ventricular hypertrophy (LVH). We report a case of Fabry disease which was suspected based upon two-dimensional echocardiographic finding of LVH. A 44-year-old man was admitted to evaluation of aggravated exertional dyspnea of two weeks duration. He had been diagnosed with end-stage renal disease of unknown etiology at age 41 followed by renal transplantation that year. He had been treated with oral immunosuppressive agents. On hospital day two, transthoracic echocardiography revealed concentric LVH. Left ventricular systolic function was preserved but diastolic dysfunction was present. Fabry disease was confirmed by demonstration of a low plasma alpha-galactosidase A (alpha-Gal A) activity. Analysis of genomic DNA showed alpha-Gal A gene mutation. The patient was diagnosed with Fabry disease.

A Case of Chronic Periaortitis with Retroperitoneal Fibrosis

A 73-year-old man with a history of hypertension and ascending aortic dissection was hospitalized for aggravated abdominal pain and general ache for 3 months. Follow-up CT showed aggravated abdominal aortic hematoma with aneurysm, atherosclerotic periaortitis and bilateral hydronephrosis. An initial laboratory finding showed elevated levels of inflammatory markers and renal dysfunction. Positron emission tomography-CT showed an increased standardized uptake values level in the aortic arch, descending thoracic aorta, major branch, abdominal aorta, and common iliac artery. For bilateral hydronephrosis, a double J catheter insertion was performed. Tissue specimens obtained from previous surgery on the aorta indicated the infiltration of lympho-plasma cells without granuloma formation in the aortic wall. After a combined therapy of high dose steroid therapy with azathioprine, the patient's initial complaints of abdominal pain, weakness and azotemia improved. This case was diagnosed as chronic periaortitis based on aortic inflammation at biopsy, which was complicated with retroperitoneal fibrosis and ureteric obstruction.

Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea

A 53-year-old man complained of orthostatic, non-rotating dizziness, and chronic watery diarrhea of several years duration. His nerve-conduction velocity test revealed peripheral sensory-motor polyneuropathy and he showed an autonomic function abnormality. Echocardiographic examination showed ventricular and atrial wall thickening with a granular "sparkling" appearance. Left ventricular systolic function was preserved but pseudonormal diastolic dysfunction was present. Coronary angiography showed normal coronary arteries and an endomyocardial biopsy revealed lesions consistent with cardiac amyloidosis. Colonoscopic biopsy also revealed the deposition of amyloid fibrils. Gene analysis found the transthyretin variant Asp38Ala. His son had same mutation, but three daughters did not. In conclusion, we report a case of familial transthyretin amyloidosis with Asp38Ala.