A 52-year-old woman comes to the physician with symptoms of a "pounding" sensation in her neck and lower extremity edema. She has lost weight recently. Her other medical problems include migraine disorder, chronic diarrhea, and severe post-menopausal flushes. The patient has a 30-pack-year smoking history. Physical examination shows poor oral hygiene. A 2/6 murmur is heard at the lower sternal border that increases with inspiration. Echocardiography shows retracted and immobile tricuspid valve leaflets with poor coaptation and severe tricuspid insufficiency. Which of the following is the most likely diagnosis?

Question

A 52-year-old woman comes to the physician with symptoms of a "pounding" sensation in her neck and lower extremity edema.  She has lost weight recently.  Her other medical problems include migraine disorder, chronic diarrhea, and severe post-menopausal flushes.  The patient has a 30-pack-year smoking history.  Physical examination shows poor oral hygiene.  A 2/6 murmur is heard at the lower sternal border that increases with inspiration.  Echocardiography shows retracted and immobile tricuspid valve leaflets with poor coaptation and severe tricuspid insufficiency.  Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

11ec25c8_d3db_6401_bc81_ddb1b1ae78bb_MD0003_00 This patient's presentation - episodic pounding sensation (due to flushing and associated rise in pulse rate), chronic diarrhea, weight loss, and valvular heart disease with tricuspid regurgitation - is consistent with carcinoid syndrome. Carcinoids are well-differentiated neuroendocrine tumors found most commonly in the distal small intestine, proximal colon, and lung, with a strong propensity for metastasis to liver. These tumors can secrete several products including histamine, serotonin, and vasoactive intestinal peptide that are metabolized in the liver. In patients with liver metastasis, these hormones are released directly into the systemic circulation, leading to carcinoid syndrome. Episodic flushing is the hallmark of carcinoid syndrome and occurs in almost 85% of patients. Severe flushing may be associated with hypotension and tachycardia. Secretory diarrhea may be accompanied by abdominal cramping. Other common features include cutaneous telangiectasias, bronchospasm, and tricuspid regurgitation. Pathognomonic plaque-like deposits of fibrous tissue occur most commonly on the endocardium on the right side of the heart, leading to tricuspid regurgitation and right-sided heart failure. Elevated 24-hour urinary 5-hydroxyindoleacetic acid can confirm the diagnosis in most patients. (Choice B) Patients with chronic thromboembolic disease and recurrent pulmonary emboli typically have symptoms of progressive dyspnea and decreased exercise tolerance. There is usually a history of deep venous thrombosis or a prior thromboembolic event. (Choice C) Right-sided infective endocarditis (IE) is often associated with intravenous drug use. Patients with IE typically have constitutional symptoms (fever, malaise, and arthralgias), vascular or immunologic phenomena, and a new valvular regurgitant murmur. However, flushing and chronic diarrhea are not symptoms of IE. (Choice D) Myxomatous valve disease occurs due to weakening of the connective tissue of valvular structures. It most commonly affects the mitral valve, resulting in mitral valve prolapse. Although the tricuspid valve may be affected by myxomatous degeneration, symptoms of flushing and diarrhea are more suggestive of carcinoid syndrome. (Choice E) Patients with primary pulmonary hypertension typically have exertional symptoms including chest pain, dyspnea, decreased exercise tolerance, and/or syncope. These patients do not have any associated flushing, weight loss, or diarrhea. (Choice F) Systemic lupus erythematosus (SLE) typically has skin (butterfly rash and photosensitivity), musculoskeletal (arthralgias), hematologic (cytopenias), cardiac (pericarditis), renal, and neurologic manifestations (cognitive defects, seizures). However, isolated tricuspid regurgitation is not a frequent presentation of SLE. Educational objective: Carcinoid syndrome typically presents with episodic flushing, secretory diarrhea, wheezing, and murmur of tricuspid regurgitation. Elevated 24-hour urinary 5-hydroxyindoleacetic acid can confirm the diagnosis in most patients. References: Carcinoid syndrome: diagnosis and medical management. (http://www.ncbi.nlm.nih.gov/pubmed/16444370)

A 52-Year-Old Woman Comes to the Physician with Symptoms of a "Pounding