P225 Carcinoid heart disease: report of a case in a patients with trombocytopenia absent radius

Abstract

Abstract Background The carcinoid syndrome is characterized by extensive and several clinical manifestations. The diarrhea, the cutaneous flushing are the most frequents symptoms while cardiac manifestations (carcinoid heart disease) (CHD) occurs in a mean of 40%. Nowadays, the number of cases of CHD is lower than 20%, as a consequence of the widespread use of somatostatin analogues. At present, there is a mean delay in diagnosis of CHD of 1.5 years from the time of carcinoid syndrome detection. Hence, CHD is associated with a poor prognosis for clinical management. Case report We present a case of 45-years-old active woman, with Thrombocytopenia absent radius (TAR). This is characterized by a bilateral absence of the radio with the presence of both thumbs and thrombocytopenia. Our patient was attended for dyspnea of medium efforts, history of diarrhea, cutaneous flushing with tachycardia and elevated urinary 5-hydroxyindoleacetic acid (5-HIAA) (89,6 mg/24 (2,0-9,0)). The Transthoracic echocardiography showed morphologic changes that affected the tricuspid valve: diminished curvature of the leaflets, altered dynamic motion of the leaflets during diastole, fused and shortened chordae retraction and reduced excursion of the valve. A moderate to severe tricuspid regurgitation and tricuspid stenosis with gradient media de 5 mmHg was observed. In addition, the right ventricle was dilated, a severe pulmonary hypertension, a right pleural effusion and a minor pericardial effusion circumference were detected. All these findings were consistent with CHD. Conclusions This report describes an unusual case of CHD in TAR patient. In fact, the interest of this case is the role played by the echocardiogram in the differential diagnosis for tricuspid valve diseases. Tricuspid stenosis is an infrequent condition and it is usually related with rheumatic disease associated with mitral valve disease. Although the carcinoid syndrome is infrequent, any changes in the anatomical structure of the tricuspid valve (thickening, fibrosis and rigidity associated with stenosis and tricuspid regurgitation) should alert us to the suspicion of CHD Abstract P225 Figure.