This video presents a cardiology case study of a 37-year-old female experiencing shortness of breath and cough. The case is discussed by Dr. Jason Ryan, creator of Boards and Beyond, and other medical professionals, focusing on differential diagnoses, investigation, and ultimately revealing a diagnosis of metastatic signet ring cell carcinoma.
The patient is a 37-year-old female who presented to the cardiac emergency of a tertiary care hospital with complaints of shortness of breath for one month, worsening in the last seven days, and a cough for two weeks. The shortness of breath was worse in the supine position and improved when sitting. There was no history of fever, but the dry cough was present for two weeks and worsened with deep inhalation. On arrival, she was experiencing shortness of breath even at rest and required oxygen support. She reported that approximately two months prior, she noticed progressive dark discoloration of her face, initially attributed to anemia by an outside facility. Around the same time, she experienced menstrual irregularities (increased frequency of cycles, whitish foul-smelling vaginal discharge). Over the following weeks, she developed intermittent generalized body aches and lower abdominal pain. One month prior to presentation, she began experiencing progressive shortness of breath, initially only on exertion. A previous chest x-ray revealed a pleural effusion (mostly left-sided), and a diagnostic pleural tap showed exudative fluid with lymphocytic predominance, elevated LDH, and low glucose. She was treated presumptively for a lower respiratory tract infection with antibiotics, but her symptoms worsened. For the last week, her shortness of breath was present even at rest. Her past medical history was insignificant except for these recent symptoms over the past two months. Her current medications included Acetylcysteine 100mg twice daily, Montelukast, and Fexofenadine, solely for the recent symptoms. She has no chronic medical history, no significant family history, three healthy children born via normal vaginal delivery, and no known allergies. Social history is unremarkable (no alcohol use, smoking, travel, or animal exposure). She lives in a rural area in northern India.
Vitals and Labs: On presentation, her blood pressure was 120/90, heart rate 118 bpm, respiratory rate 26 bpm, and oxygen saturation 94% on nasal prongs. She was afebrile. General appearance showed a sick-looking woman. Physical examination revealed pallor, jugular venous distention, and decreased bilateral breath sounds (more pronounced on the left). Cardiovascular examination revealed soft, distant S1 and S2 heart sounds with no murmurs. Abdominal examination showed mild distention and tenderness in the upper abdomen. Neurological examination was normal. Labs showed hemoglobin of 11 with MCV 84.8, TLC 8100 with normal differential (neutrophils 70.5%), platelets 344,000, and normal serum electrolytes. Renal function tests (BUN, creatinine) were normal. Liver function tests (bilirubin, ALT, AST) were normal. Total serum protein was slightly decreased (5.8 g/dL), albumin 3.5 g/dL. Viral markers (Hepatitis B, C, HIV) were negative.
Imaging: The ECG showed sinus tachycardia with low voltage. A chest x-ray showed a large left-sided pleural effusion and cardiomegaly (after a procedure). A point-of-care ultrasound (POCUS) revealed pericardial effusion, right ventricle collapse, dilated inferior vena cava, and normal left ventricular size and systolic function; tachycardia and ectopic beats were noted. A pericardial tap was performed, and 150 ml of straw-colored fluid was removed; a pigtail catheter was inserted.
Further Investigations and Diagnosis: The pleural fluid analysis from one month prior showed an exudative effusion. The pericardial fluid analysis showed elevated protein (4.3 g/dL) and LDH (266 U/L) consistent with an exudative effusion. Cytology was positive for malignant cells. Ultrasound of the abdomen and pelvis revealed bilateral bulky solid ovarian masses. An MRI confirmed the findings, measuring approximately 4 cm in diameter on both sides. CA-125 levels were elevated (126.9 U/mL). A core needle biopsy of the left ovarian mass showed signet ring cell carcinoma, infiltrating the ovarian parenchyma with lymphovascular invasion. Immunohistochemistry favored a non-colorectal gastrointestinal primary tumor, suggestive of metastatic signet ring cell adenocarcinoma. CA 19-9 levels were significantly elevated (7880 U/mL). The final diagnosis was Krukenberg tumor: metastatic signet ring cell carcinoma of gastrointestinal origin with pericardial and pleural metastasis. The patient was lost to follow-up after discharge.
The video highlights several teaching points:
Atypical presentation in young patients: The case emphasizes that serious illnesses can present atypically, even in young, seemingly healthy individuals. The initial symptoms of shortness of breath and cough could easily be dismissed as a benign respiratory infection, delaying diagnosis of a life-threatening condition. The patient's age should not overshadow the possibility of serious cardiac or systemic disease.
The importance of a thorough history and physical exam: The seemingly unrelated symptoms of skin discoloration and menstrual irregularities proved crucial in arriving at the correct diagnosis. A complete and detailed history, beyond immediate chief complaints, is paramount in uncovering subtle clues pointing towards a systemic illness.
Systematic approach to diagnosis: The video demonstrates the importance of a systematic diagnostic approach. Starting with basic investigations like a chest X-ray and EKG, followed by further imaging (ultrasound, MRI) and biopsies, is vital in building a complete clinical picture. Each step builds on the preceding ones, narrowing the differential diagnosis and ultimately leading to the correct diagnosis.
Considering metastatic disease: The diagnosis of Krukenberg tumor highlights the importance of considering metastatic disease, particularly in cases with bilateral ovarian masses. The presence of pleural and pericardial effusions, along with the ovarian masses, strongly suggested systemic disease. Differentiating primary ovarian cancer from metastatic disease is crucial for appropriate management and prognosis.
Multidisciplinary collaboration: Managing complex cases, especially those involving metastatic disease, requires a multidisciplinary approach. This case involved cardiology, oncology, and potentially gastroenterology, emphasizing the importance of collaboration and communication among different specialists.
Krukenberg tumor characteristics: The video provides insights into the characteristics of Krukenberg tumors, including the classic signet ring cell morphology, and the typical presentation with bilateral ovarian masses. It underscores the importance of differentiating Krukenberg tumors from primary ovarian malignancies, as management and prognosis differ significantly.
Cardiac tamponade recognition and management: While the primary focus wasn't cardiac tamponade, the case touches upon its recognition (pulsus paradoxus) and management (pericardiocentesis, pericardial window). The discussion of different methods of diagnosing and treating cardiac tamponade provides valuable clinical information.
Limitations of initial assessment: The video showcases how initial evaluations, particularly those performed outside specialized centers, may miss critical findings or misinterpret the significance of symptoms. The initial attribution of the patient's symptoms solely to anemia by another facility serves as a cautionary tale of the need for comprehensive evaluation in complex cases.
Patient communication and shared decision-making: The video briefly touches upon the ethical considerations involved in disclosing a grave diagnosis to a patient, particularly a young mother, and respecting their autonomy in making decisions about further treatment.
The role of imaging in diagnosis: The video stresses the value of various imaging modalities (chest X-ray, echocardiogram, abdominal/pelvic ultrasound, MRI) in revealing critical information that significantly impacted the diagnosis and management.
In summary, the teaching points emphasize the value of thorough history-taking, systematic investigation, differential diagnosis, multidisciplinary collaboration, the significance of considering metastasis, proper interpretation of imaging studies and lab results, ethical patient care, and the complexities of managing patients with advanced disease.
