Contributed by Marie C DeFrances, MD, PhD and Robert E Lee, MD
Published on line in December 1998
A 28 year old man was admitted for hemoptysis, dyspnea, fever, chills, nausea, vomiting, and jaundice. At age 12 years, he was noted to have scoliosis, and he described difficulty running. Additional clinical findings at the time of his first evaluation were enlarged calf muscles, atrophic pectoral muscles, elevated creatine phosphokinase levels, as well as an abnormal electromyogram and muscle microscopy. The patient was was not followed for his condition between the ages of 12 and 24 years. At the age of 24 years, echocardiography showed a severely dilated left ventricle with severe global hypokinesis, mild atrial enlargement, possible mural apical thrombus, and a small pericardial effusion. The patient was placed on Vasotec and Lanoxin. Repeat echocardiogram at the age of 27 years showed similar findings, and the patient was placed on Coumadin anticoagulation to prevent cardiac mural thrombi and emboli. Four months prior to his final admission, he was hospitalized briefly for pneumonia and left ventricular heart failure with pulmonary congestion. Given his deteriorating cardiac status (N.Y. Heart Association Class III/IV), the patient was subsequently placed on the cardiac transplantation list two weeks prior to admission.
Past medical history revealed that his younger brother was diagnosed at age 14 years with dilated cardiomyopathy that resulted in death three weeks following the onset of severe acute congestive heart failure. Two other siblings and his parents are free of heart disease.
When admitted, the patient had hemoptysis, dyspnea, fever, chills, nausea, vomiting, and jaundice. His international normalized ratio on admission was 6.6, and his white blood cell count was 16,400/uL. A chest x-ray showed a mass-like consolidation of the right lower lobe of lung. He continued to have episodes of hemoptysis, elevated white blood cell counts and elevated international normalized ratios necessitating Vitamin K therapy. Five days after admission, the patient noted chest burning following bronchioloalveolar lavage. Shortly thereafter, he was found to be asystolic without respirations. Cardiopulmonary resuscitation failed, and the patient died. The autopsy was limited to the chest.