66-year-old female with a history of heart failure with preserved ejection fraction and paroxysmal atrial fibrillation, presented to the clinic for worsening lower extremity edema. She was subsequently admitted for acute decompensated heart failure.
On examination, the jugular venous pressure was estimated to be between 13-15 cm H2O. She was not tachypneic. Her lungs were clear to auscultation bilaterally. A harsh systolic murmur was appreciated at the right upper sternal border. 3+ pitting edema was noted bilaterally extending up to the hips.
Her electrocardiogram revealed a normal sinus rhythm with no ST-T wave changes. Chest x-ray was unchanged from prior history. On laboratory work-up, pro-BNP was 1232 pg/ml (Normal: 0-125 pg/ml). A transthoracic echocardiogram was obtained. (Video 1)
What is the most likely etiology of the findings seen on transthoracic echocardiogram?
The correct answer is: A. Carcinoid Heart Disease
The echocardiogram above shows severe tricuspid regurgitation due to leaflet malcoaptation, typical for carcinoid heart disease. This is a parasternal right ventricular inflow view where the septal and anterior leaflets of the tricuspid valve are well seen.1 This patient has a history of neuroendocrine tumor. A study found that levels of chromogranin-A (CgA) and N-terminal pro-brain natriuretic peptide (NT-proBNP) were associated with the presence and severity of tricuspid regurgitation as a manifestation of carcinoid heart disease among patients with neuroendocrine tumors.2 Characteristic echocardiographic features of advanced carcinoid heart disease include thickening and retraction of immobile tricuspid valve leaflets with associated tricuspid regurgitation, which is severe in 90 percent of patients.3 The morphology of the valve leaflet is not disrupted and the carcinoid plaque generally affects the ventricular aspect of the tricuspid valve leaflets and the arterial aspect of the pulmonic valve cusps.4,5 Retraction and fixation of the tricuspid leaflets results in reduced motion and lack of central coaptation. These changes characteristically cause severe tricuspid regurgitation and less often tricuspid stenosis.6
Pulmonary hypertension that is severe in nature may have a similar echocardiographic finding. However, given the patient's history of metastatic neuroendocrine tumor, as well as an elevated pro-BNP with echocardiographic evidence of severe tricuspid regurgitation, carcinoid heart disease is the most likely cause.
Right ventricular dilatation can lead to functional tricuspid regurgitation, while tricuspid valve leaflets remain normal. In this patient the echocardiogram does not provide evidence for right ventricle dilatation. Additionally, it is the mobility of the valve leaflets that appears to be significantly affected, leading to the lack of coaptation. This is a feature consistent with carcinoid heart disease.
Ebstein's anomaly is a congenital malformation of the tricuspid valve and the right ventricle, with atrialisation of the right ventricle due to downward extension of the tricuspid valve. With Epstein's anomaly the tricuspid valve is funnel-shaped ("sail-like"), incompetent, and rarely stenotic.7 In carcinoid heart disease, the tricuspid valve is not displaced, and the anterior leaflet is not elongated.
Endocarditis would be an unlikely cause of this presentation in the absence of symptoms of infection and no evidence of vegetations or intra-cardiac abscess on echocardiogram.
Otto, C. Textbook of Clinical Echocardiography Fifth Edition, 2013.
Korse CM, Taal BG, de Groot CA, et al. Chromogranin-A and N-terminal pro-brain natriuretic peptide: an excellent pair of biomarkers for diagnostics in patients with neuroendocrine tumor. J Clin Oncol 2009; 27:4293
Pellikka PA, Tajik AJ, Khandheria BK, et al. Carcinoid heart disease. Clinical and echocardiographic spectrum in 74 patients. Circulation 1993; 87:1188
Pandya UH, Pellikka PA, Enriquez-Sarano M, et al. Metastatic carcinoid tumor to the heart: echocardiographic-pathologic study of 11 patients. J Am Coll Cardiol 2002; 40:1328
Connolly HM, Schaff HV, Mullany CJ, et al. Surgical management of left-sided carcinoid heart disease. Circulation 2001; 104:I36
Carcinoid heart disease. Heidi M Connolly, MD (Uptodate)
Ebstein's anomaly of the tricuspid valve. Brojendra N Agarwala, MD Ziyad M Hijazi, MD, Joseph Dearani, MD (Uptodate)