A 25-year-old woman comes to the physician with complaints of fatigue and worsening shortness of breath. She first noticed her symptoms 8 months ago. She awoke 2 days ago with palpitations and severe coughing and noticed some bright-colored blood in her sputum. She emigrated from the Philippines 2 years ago and works as a nurse at a local hospital. She has no history of smoking, illicit drug use, or unprotected sexual intercourse. She has no past medical history of childhood illnesses.
Her blood pressure is 106/62 mm Hg, and pulse is 82/min and regular. Neck veins are pulsatile with a prominent c-v wave. Lungs fields are clear with minimal rales heard at both lung bases. Heart sounds are regular with a loud first heart sound. A low-pitched mid-diastolic rumble and a snapping sound after the second heart sound are present at the cardiac apex. There is also a loud holosystolic murmur heard over the precordium that increases with inspiration.
Which of the following is the most likely diagnosis?

Question

A 25-year-old woman comes to the physician with complaints of fatigue and worsening shortness of breath.  She first noticed her symptoms 8 months ago.  She awoke 2 days ago with palpitations and severe coughing and noticed some bright-colored blood in her sputum.  She emigrated from the Philippines 2 years ago and works as a nurse at a local hospital.  She has no history of smoking, illicit drug use, or unprotected sexual intercourse.  She has no past medical history of childhood illnesses.
Her blood pressure is 106/62 mm Hg, and pulse is 82/min and regular.  Neck veins are pulsatile with a prominent c-v wave.  Lungs fields are clear with minimal rales heard at both lung bases.  Heart sounds are regular with a loud first heart sound.  A low-pitched mid-diastolic rumble and a snapping sound after the second heart sound are present at the cardiac apex.  There is also a loud holosystolic murmur heard over the precordium that increases with inspiration.
Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

The diagnosis of mitral stenosis is suspected based on clinical presentation and typical demographics and is confirmed with classic findings on physical examination. This patient's episode of paroxysmal nocturnal dyspnea and hemoptysis was most likely precipitated by paroxysmal atrial fibrillation. Classic physical examination findings in patients with mitral stenosis include a loud first heart sound, opening snap after S2 (best heard at the apex), and a low-pitched mid-diastolic rumble best heard at the cardiac apex using the bell of the stethoscope with the patient lying on the left side in held expiration. Patients with pulmonary hypertension and tricuspid regurgitation have pulsatile neck veins and a prominent c-v wave on jugular venous pulsation. Tricuspid regurgitation causes a holosystolic murmur best heard along the left sternal border that increases in intensity with inspiration. (Choice A) An early diastolic murmur, best heard at the left sternal border, is characteristic for aortic regurgitation. Opening snap is not present. (Choice B) Patients with constrictive pericarditis have elevated JVP with prominent "y" descent, Kussmaul's sign (lack of decline in JVP with inspiration), and an audible pericardial knock. There are no associated murmurs. (Choice C) Ebstein's anomaly is a congenital malformation characterized by abnormalities of the tricuspid valve and right ventricle. Auscultation reveals a tricuspid regurgitation murmur similar to that heard in this patient; however, mid-diastolic rumble at the cardiac apex is not common in adults. Also, first and second heart sounds are widely split due to right bundle branch block. Opening snap is not present. Ebstein's anomaly (Choice E) Ventricular septal defect causes a loud holosystolic murmur, along with a palpable thrill, and is best appreciated over the third or fourth left intercostal space along the left sternal border. Educational objective: Physical examination findings in patients with mitral stenosis include a loud first heart sound, opening snap after S2 (best heard at the apex), and a low-pitched diastolic rumble best heard at the cardiac apex. Patients with tricuspid regurgitation from long-standing pulmonary hypertension also have a holosystolic murmur that increases in intensity with inspiration. __________ References: Mitral stenosis. (http://www.ncbi.nlm.nih.gov/pubmed/19747723)

A 25-Year-Old Woman Comes to the Physician with Complaints of Fatigue