Monday, February 13, 2006 - 7:30 PM
Advances in Diagnosis and Elucidation of Disease Mechanisms
Washington University School of Medicine
St. Louis, MO
Prior to this Annual Meeting, slides and case histories for this Specialty Conferences were posted below so they may be reviewed in advance. During the meeting, the slides and protocols were also available for study in the microscope room (Chicago B - F Room) for participants who wished to review them prior to the evening session. Click here for the handout from this conference.
Click on each slide thumbnail image for an enlarged view
Gayle L. Winters
Brigham and Women's Hospital
Harvard Medical School, Boston, MA
A 51 year-old female nurse presented with a three-week history of fatigue and dyspnea on exertion. The symptoms were progressive and led to a significant limitation in her activities of daily living, such that by the day of admission she was unable to climb a single flight of stairs. She also reported occasional burning chest discomfort that did not radiate and had no clear association with exertion, as well as some brief palpitations. Her past medical history (including risk factors for coronary artery disease) was entirely negative and she took no regular medications. She did not smoke or use illicit drugs, consumed alcohol only occasionally, and denied any high-risk sexual behaviors. She had no history of travel outside the US and there were no notable occupational or environmental exposures.
On physical examination, she appeared well. She was afebrile with a blood pressure of 88/60 mm Hg, pulse 90 beats per minute, and respiratory rate 20 breaths per minute. Cardiac examination revealed a regular gallop rhythm with audible left-sided third and fourth heart sounds. Admitting laboratory studies were non-contributory. ECG revealed left axis deviation, poor R wave progression, 2-3 mm ST segment elevations in leads V2, V3, and 2-3 mm ST segment depressions in leads V5 and V6. Emergent left-sided cardiac catheterization revealed a right dominant circulation with clean coronary vessels except for a 20-30% stenosis in the left anterior descending artery. There was global hypokinesis. Transthoracic echocardiography showed a mildly enlarged left ventricle with global hypokinesis and a left ventricular ejection fraction of 15-20%.
The day of admission, the patient became severely hypotensive and developed sustained monomorphic ventricular tachycardia requiring direct-current cardioversion. Urgent right heart catheterization with endomyocardial biopsy was performed (Slide A). She remained hemodynamically unstable and required placement of an intra-aortic balloon pump. Urgent transplant evaluation was undertaken. Two days after her biopsy a Thoratec BiVAD was inserted for cardiogenic shock and recurrent ventricular tachyarrhythmias. Her condition stabilized and she awaited transplantation in the hospital. Approximately two months after her initial presentation, she underwent heart transplantation and her explanted heart became available for examination (Slide B).
Royal Brompton Heart Hospital
- DOB: 09-02-1949.
- Patient aged 53 originally presented from a family screening program. His mother presented with hypertrophic cardiomyopathy (aged 65 years) and he was subsequently also found to have the condition. At the time his only cardiac symptom was that of palpitations. Echocardiography demonstrated concentric left ventricular hypertrophy (maximal wall thickness 20mm). He was also found to have asthma and was treated with inhalers and intermittent courses of oral steroids. He progressed over 5 years to heart failure and presented to hospital with severe chest pain and difficulty breathing. He suffered cardiac arrest shortly after admission from which he was not able to be resuscitated.
- The weight of the heart is 879g. On examination, there is left ventricular hypertrophy particularly noted in the anteroseptal and posteroseptal wall of the left ventricle. The thickness of the postero-septal wall is 21mm whereas the anterior and posterior appear to be 16mm. The lateral free wall of the left ventricle appears of normal thickness at 15mm. There is hypertrophy of the trabeculae which appear quite prominent in the left ventricle.
- In the postero-lateral wall of the left ventricle there is a slightly sunken area in the inner one third of the subendocardium. Elsewhere, the muscle appears prominent with some swirling but no other macroscopic areas of fibrosis.
- The right ventricle appears normal in the anterior and lateral wall with overlying epicardial fat, but there is hypertrophy of the posterior wall which is approximately 6mm.
- There is nodular calcification of the aortic valve leaflets which extends onto the anterior mitral leaflet with calcification extending onto the chordae of the mitral valve. The aortic leaflets are slightly thickened but there is no significant stenosis of the valve leaflets which move freely. There is extensive nodular calcification of the anterior leaflet of the mitral valve which involves both the annulus and the body of the mitral leaflet. At the edge of the anterior leaflet, there is slight ballooning and thickening between the chordae. The tricuspid valve also appears slightly thickened and ballooned between the chordae. Pulmonary valve appears macroscopically normal. There are no congenital defects seen in the heart. The coronary arteries appear normal with no narrowing macroscopically.
University of British Columbia
Vancouver, BC, Canada
A 54-year-old woman presented with a three day history of nausea, vomiting, and fever. After resuscitation from asystolic arrest, the patient had an ejection fraction of about 15%. Coronary angiograms were unremarkable. The patient underwent endomyocardial biopsy in anticipation of the need for heart transplantation. The heart tissuewas abnormal. However, followinga certain therapy the patient's status markedly improved.
Massachusetts General Hospital
The patient is a 37 year-old woman who presented with dyspnea on exertion, fatigue, orthopnea, and ankle edema. Chest X-ray revealed mild cardiac enlargement. An echocardiogram revealed biatrial enlargement, moderate left ventricular hypertrophy with mild global dysfunction, mild mitral regurgitation, moderate tricuspid regurgitation, moderate pulmonary hypertension, and a left ventricular ejection fraction of 45%. Coronary angiography revealed no significant coronary artery disease. A chest CT scan showed no evidence of pulmonary emboli or pericardial thickening. A right ventricular endomyocardial biopsy was performed, and a specific diagnosis rendered. The patient subsequently underwent cardiac allograft transplantation.