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Read the case of the 37 Year Old Female With Flu-Like Symptoms on the following link:

Case Report

Case 223 — A 37 Year Old Female with Flu-Like Symptoms

Contributed by J. Thomas Molina, MD, PhD, Larry Nichols, MD, and Bernard Klionsky, MD
Published on line in March 2000

PATIENT HISTORY:

Fig 1. Representative EKG, January 2000.

The patient is a 37-year-old white female who was in excellent health until three years prior, when she developed flu-like symptoms. She took Alka-Seltzer for about four days, but sought medical help when the symptoms persisted. A chest x-ray showed pulmonary venous congestion. She was also noted to be in atrial fibrillation. An echocardiogram showed a normal size left ventricle. The overall left ventricular systolic function was severely reduced with an estimated ejection fraction of 25%. Mild to moderate mitral regurgitation was present. Cardiac catheterization showed normal coronary arteries. She was treated with digoxin and intravenous diuretic therapy, with much improvement. She developed nonsustained ventricular tachycardia. With amiodarone therapy, she converted to normal sinus rhythm.

The patient' s mother died at age 65 of congestive heart failure. Her father died at age 48 of a myocardial infarction. One of her sisters died at age 46 from a cardiomyopathy. This sister had heart failure for about two years and died suddenly. Another sister had congestive heart failure at age 38 and a history of rapid ventricular tachycardia which prompted automatic implantable defibrillator placement, and later a heart transplantation.

A follow-up echocardiogram one year later showed a mildly dilated left ventricular cavity, a moderate decrease in overall left ventricular systolic function, an estimated ejection fraction of 35-40%, marked global hypokinesis most severe in the septum, mildly dilated right ventricle, a mild decrease in right ventricular systolic function, mild to moderate mitral regurgitation, mild left atrial enlargement, moderate to severe tricuspid regurgitation and severe right atrial enlargement.

Evaluation for cardiac transplantation one year later included an echocardiogram which showed moderate left ventricular systolic dysfunction with an estimated left ventricular ejection fraction of 40%. The right ventricle was severely dilated and severely hypokinetic. Severe tricuspid regurgitation was present. Right heart catheterization showed a right atrial pressure of 16 mmHg, pulmonary artery pressure of 21/16 mmHg and pulmonary wedge pressure of 13 mmHg. The cardiac output was 4.3 liters/min and the pulmonary artery oxygen saturation was 62%.

The patient' s clinical status deteriorated rapidly over the next two months. She had increasing dyspnea and fatigue and a profound decline in exercise tolerance. She also developed intermittent fevers and a non-productive cough. She had intermittent diarrhea and abdominal bloating, as well as persistent nausea. Appetite was quite poor. She had 3-4 pillow orthopnea and frequent paroxysmal nocturnal dyspnea. She had intermittent palpitations but denied dizziness, lightheadedness or pre-syncope. She had no angina. The patient was hospitalized.

While hospitalized, she became critically hypotensive with multiple runs of non-sustained ventricular tachycardia. She also had respiratory failure which required intubation and "septic shock like" hemodynamics. She became anuric with marked hypernatremia and acidosis. On hospital day 4, the patient became unresponsive with severe anasarca, no pupillary response and no corneal reflexes. The patient proceeded to suffer a cardiac arrest from which she could not be resuscitated and she was pronounced dead.

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Click here to review Final DiagnosisPathological Findings — A 37 Year Old Female with Flu-Like Symptoms

PATHOLOGIC FINDINGS:

The heart showed mild hypertrophy of the left ventricle, and severe dilation of the right ventricle. The right atrium and right ventricle had patchy fatty infiltration into the cardiac wall (Figs. 2, 3, 4). The right atrium showed a greater degree of the fatty infiltration than the right ventricle. The endocardium was thin and translucent. The heart valves were predominantly thin and pliable without vegetations. The chordae tendineae of the tricuspid valve were elongated and attenuated.

Sections of the right atrium and right ventricle (Figs. 5, 6, 7, 8, 9) showed fatty infiltration and fibrosis with variation in the size of myocyte fibers (atrophy) and vacuolization of myocytes. Sections of the left ventricle (Figs. 10, 11, 12) and left atrium showed similar changes, but to a lesser degree. An organizing mural thrombus was seen in the right atrial appendage. There was greater than 75% narrowing of the left anterior descending coronary artery and greater than 95% narrowing of the left circumflex coronary artery by atherosclerotic plaque.

FIGURE LEGEND:

Fig 2. Gross image of right atrium and right ventricle.
Fig 3. Gross image of right atrium.
Fig 4. Gross image of right ventricle.
Fig 5. Right atrium, H&E stain (40x).
Fig 6. Right atrium, H&E stain (200x).
Fig 7. Right ventricle, H&E stain (20x).
Fig 8. Right ventricle, H&E stain (400x).
Fig 9. Right ventricle, trichrome stain (100x).
Fig 10 -11. Left ventricle, H&E stain (100x).
Fig 12. Left ventricle, H&E stain (200x).Final Diagnosis — Arrhythmogenic Right Ventricular Cardiomyopathy

FINAL DIAGNOSIS:

ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY

DISCUSSION:

The patient was a young woman who presented with a presumed viral induced cardiomyopathy. Her history included a sudden onset of atrial fibrillation and ventricular tachycardia following a flu-like illness. Her father and two sisters died at a young age from presumed cardiac etiology. Furthermore, a third sister had a nearly identical presentation which required heart transplantation.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) typically presents as a sudden debilitating right ventricular myopathy with ventricular tachycardia, syncopal attacks and sudden death following a recent flu-like illness. It is a familial condition linked to chromosomes 1, 2 and 14 that is characterized by specific arrhythmias. ARVC occurs in families, and it is inherited as an autosomal dominant trait with variable penetrance and clinical expression.

ARVC has been reported as the leading cause of sudden death in young athletes. Even mild forms of the disease may be life-threatening by jeopardizing the electrical order of the heart during effort.

The most prominent pathologic feature of ARVC is fatty infiltration of ventricular myocardium. Research has implicated type B coxsackieviruses as the probable agent which presumably induces myocyte loss with replacement by infiltrating fat cells in these predisposed patients. However, a recent report suggests that the disease may actually be a myocyte transdifferentiation into adipocytes, as opposed to myocyte-loss and adipose-replacement as has been previously believed. The myocyte-loss/transdifferentiation can be postulated to affect the transduction of electrical impulses, and possibly the sinoatrial node itself, leading to arrhythmias.

In this patient, the gross and microscopic autopsy findings showed an anatomic correlate of atrial fibrillation: an atrial mural thrombus. Furthermore, there was extensive fatty infiltration of the right atrium, right ventricle and left ventricle. The myocytes adjacent to the adipose tissue infiltrate showed multiple sarcoplasmic vacuoles, as would be expected for ARVC.

ARVC can be clinically covert and difficult to diagnose or suspect. The combination of clinical and family history is crucial to the diagnosis of ARVC. Most patients with ARVC have clinical clues to the diagnosis in their own medical history or family history. With increased awareness of the diagnostic criteria, hopefully young patients with occult ARVC will be identified in the future and their death prevented.

REFERENCES:

d'Amati, G., Gioia, C. R., Giordano, C., and P. Gallo. "Myocyte Transdifferentiation: a possible pathogenetic mechanism for arrhythmogenic right ventricular cardiomyopathy." Arch Pathol Lab Med Feb 2000 124, 287-90.Fornes, P., Ratel, S., and D. Lecomte. "Pathology of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia-An autopsy study of 20 forensic cases." J Forensic Sci 1998 Jul 43:4 777-83.Rampazzo, A, Nava, A, Danieli, G.A., Buja, G., Daliento, L., Fasoli, G., Scognamiglio, R., Corrado, D., and G.Thiene. "The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24." Hum Mol Genet 1994 Jun 3:6 959-62.Thiene, G., Nava, A., Corrado, D., Rossi, L., and N. Pennelli. "Right ventricular cardiomyopathy and sudden death in young people." New England J Med 1988 Jan 318:3 129-133.Grumbach, I.M., Heim, A., Vonhoff, S., Stille-Siegener, M., Mall, G., Gonska, B.D., Kreuzer, H., Andreas, S., and H.R. Figulla. "Coxsackievirus genome in myocardium of patients with arrhythmogenic right ventricular dysplasia/ cardiomyopathy." Cardiology 1998 89:241-45.Thiene, G., Basso, C., and D. Corrado. "Is prevention of sudden death in young athletes feasible?" Cardiologia 1999 Jun 44:6 497-505.Cotran, R.S., Kumar, V., and T. Collins, eds. Robbins Pathologic Basis of Disease, 6th ed. 1999.

Contributed by J. Thomas Molina, MD, PhD, Larry Nichols, MD, and Bernard Klionsky, MD

Please read the pathology findings and final diagnosis in the clinical report above.