Managing end-stage carcinoid heart disease: A case report and literature review

Abstract

Background: Gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) are rare tumors, often diagnosed in an advanced stage when curative treatment is impossible and grueling symptoms related to vasoactive substance release by tumor cells affect patients' quality of life. Cardiovascular complications of GEP-NENs, primarily tricuspid and pulmonary valve disease, and right-sided heart failure, are the leading cause of death, even compared to metastatic disease.

Case summary: We present a case of a 35-year-old patient with progressive dyspnea, back pain, polyneuropathic leg pain, and nocturnal diarrhea lasting for a decade before the diagnosis of neuroendocrine carcinoma of unknown primary with extensive liver metastases. During the initial presentation, serum biomarkers were not evaluated, and the patient received five cycles of doxorubicin, which he did not tolerate well, so he refused further therapy and was lost to follow-up. After 10 years, he presented to the emergency room with signs and symptoms of right-sided heart failure. Panneuroendocrine markers, serum chromogranin A, and urinary 5-hydroxyindoleacetic acid were extremely elevated (900 ng/mL and 2178 µmol/L), and transabdominal ultrasound confirmed hepatic metastases. Computed tomography (CT) showed liver metastases up to 6 cm in diameter and metastases in mesenteric lymph nodes and pelvis. Furthermore, an Octreoscan showed lesions in the heart, thoracic spine, duodenum, and ascendent colon. A standard transthoracic echocardiogram confirmed findings of carcinoid heart disease. The patient was not a candidate for valve replacement. He started octreotide acetate treatment, and the dose escalated to 80 mg IM monthly. Although biochemical response and symptomatic improvement were noted, the patient died.

Conclusion: Carcinoid heart disease occurs with carcinoid syndrome related to advanced neuroendocrine tumors, usually with liver metastases, which manifests as right-sided heart valve dysfunction leading to right-sided heart failure. Carcinoid heart disease and tumor burden are major prognostic factors of poor survival. Therefore, they must be actively sought by available biochemical markers and imaging techniques. Moreover, imaging techniques aiding tumor detection and staging, somatostatin receptor positron emission tomography/CT, and CT or magnetic resonance imaging, should be performed at the time of diagnosis and in 3- to 6-mo intervals to determine tumor growth rate and assess the possibility of locoregional therapy and/or palliative surgery. Valve replacement at the onset of symptoms or right ventricular dysfunction may be considered, while any delay can worsen right-sided ventricular failure.

Keywords: Carcinoid heart disease; Carcinoid syndrome; Case report; Diagnosis; Gastroenteropancreatic neuroendocrine neoplasms; Treatment.

Figure 1

Octreoscan imaging showing radiopharmaceutical accumulation in the heart, thoracic spine, liver, intestine, duodenum and ascendant colon, paraaortic lymph nodes, and one focal lesion within the pelvis.

Figure 2

Capsule endoscopy findings. A: An erythematous mucosa of the proximal ileum; B: An erythematous mucosa of the medial part of the ileum; C: An erythematous mucosa of the distal ileum; D: An erythematous mucosa with villous denudation in the distal ileum; E: A single erosion (circled) in the distal ileum.

Figure 3

Transthoracic echocardiography. A: The dilated right atrium (RA) and right ventricle (RV) with typical thickening and retraction of immobile tricuspid valve leaflets (arrow); B: Color Doppler tracing of severe tricuspid regurgitation (TR); C: Thickening and retraction of immobile tricuspid valve leaflets and associated mild tricuspid stenosis with area of 2.2 cm² (arrow). LA: Left atrium; LV: Left ventricle.