Dyspnea and hemoptysis in a 26-year-old man

A 26-year-old man was referred from another hospital, where he had presented with dyspnea and hemoptysis. His problems had begun in infancy. He had been the product of a full-term pregnancy and normal delivery. No cardiac murmur had been heard immediately after delivery, but a loud murmur was heard at his 6-week checkup, and his mother was told that he had a hole in his heart. Frequent and prolonged respiratory infections complicated infancy and early childhood. He underwent cardiac catheterization at 1 year of age. The physicians recommended an operation to close the hole in his heart, but his mother refused, at least in part because of a groin complication with the cardiac catheterization.

Growing up, the patient had always been more dyspneic with exertion than his peers. About 10 years earlier, he had noted intermittent cyanosis of his lips. For the previous 1 to 2 years, his exertional dyspnea had been increasing, but there was no orthopnea or paroxysmal nocturnal dyspnea. A year earlier, he had coughed up several cups of frank blood. Three subsequent episodes of hemoptysis consisted primarily of blood-tinged sputum.

On physical exam this slender young man displayed mild, symmetrical cyanosis and clubbing of all 4 extremities. The lungs were clear to auscultation. Mean central venous pressure was normal as judged by the neck veins, which showed an a wave that was more prominent than the v wave. Arterial pulses were normal in both arms and both legs. The only palpable right ventricular impulse was a minimal one felt in the epigastrium with deep inspiration. The left ventricle was palpable with the patient on his left side. Auscultation revealed a loud, single second heart sound and a prominent systolic ejection click. Both could be heard over most of the precordium but were loudest at the sternal edge in the left second intercostal space (pulmonic area). A short, early systolic, grade 1/6 murmur also could be heard in the pulmonic area. There was no diastolic murmur.

The electrocardiogram (Figure 1) displays sinus arrhythmia with normal P waves. Right-axis deviation (+95°) of the QRS, a tall bifid R wave with virtually no S wave in lead V₁, and deep S waves in leads V₅, V₆ indicate considerable right ventricular hypertrophy. In addition, sizable septal Q waves and slightly prominent R waves are visible in leads V₄–V₁₆.

Figure 1.

Electrocardiogram in a 26-year-old man with exertional dyspnea and hemoptysis. See text for explication.

The posteroanterior chest radiograph demonstrates slight pulmonary plethora, a large pulmonary trunk and proximal pulmonary arteries, and a cardiothoracic ratio of 0.46. On the lateral radiograph, the left ventricle protrudes well behind the inferior vena cava (Figure 2).

Figure 2.

Posteroanterior (left) and left lateral (right) chest x-rays on admission. The open arrow indicates the left ventricle, and the solid arrow marks the inferior vena cava. See text.

Several points in the history and clinical exam are noteworthy. The absence of a murmur in the first day or two of life with its appearance during the ensuing weeks is typical of a left-to-right shunt, which is minimal initially but becomes sizable as pulmonary vascular resistance falls. In contrast, the murmur of aortic or pulmonic stenosis is audible from birth. Frequent respiratory infections during infancy and childhood are another hallmark of a left'tO'right shunt.

The appearance of cyanosis in a patient who initially was acyanotic and had a left-to-right shunt suggests the development of a markedly increased pulmonary vascular resistance leading to significant right'to-left shunting. Occasionally, right ventricular outflow tract obstruction develops in patients with ventricular septal defect, resulting in tetralogy-of-Fallot–type hemodynamics and late cyanosis (1). In these patients, however, the murmur of ventricular septal defect is replaced by the equally loud murmur of right ventricular outflow tract obstruction. Thus, in our patient, increasing cyanosis, a diminishing murmur, a loud, single second heart sound, and an ejection click indicate Eisenmenger physiology with severe pulmonary hypertension and right-to-left or bidirectional shunting (2).

Wood defined Eisenmenger's complex as “pulmonary hypertension at systemic level, due to a high pulmonary vascular resistance (over 800 dynes sec/cm⁵), with reversed or bidirectional shunt through a large ventricular septal defect (1.5–3 cm across)” (2). He went on to describe any large congenital communication between the left and right circulations that behaved physiologically like Eisenmenger's complex proper as Eisenmenger's syndrome. He used the term Eisenmenger's reaction to characterize the development of Eisenmenger physiology in patients with such large congenital communications.

Where is the communication between the systemic and pulmonary circulations? Loud murmurs are rare in infants with fossa-ovalis–type (secundum) atrial septal defects, and in men Eisenmenger physiology is uncommon and rarely occurs in the second decade of life. When Eisenmenger physiology does develop, the wide and fixed split, characteristic of the second sound in atrial septal defect, usually persists (2). An atrioventricular septal defect is ruled out by the absence of a left anterior fascicular block in the electrocardiogram. Reversal of flow through a patent ductus arteriosus usually makes the feet, and occasionally the left hand, more cyanotic than the right hand, which was not the case in our patient. Thus, of the commonly occurring communications between the 2 circulations, ventricular septal defect is the only one that fits all of our patient's findings. The echocardiogram indeed shows a large, nonrestrictive perimembranous ventricular septal defect with bidirectional shunting, a hypertrophied right ventricle, normal left and right ventricular systolic function, and, as judged by the velocity of the tricuspid valvular regurgitant jet, a pulmonary arterial systolic pressure of 100 mm Hg, which is the same as systemic arterial systolic pressure.

Although there is now a considerable right-to-left shunt, the palpable left ventricle, slight pulmonary plethora on chest radiograph, protrusion of the left ventricle behind the inferior vena cava on the lateral film, and large septal Q waves with generous R waves in leads V₅, V₆ of the electrocardiogram indicate a left-to-right shunt that was larger in the past. Hemoptysis in patients with Eisenmenger's complex rarely occurs before the mid 20s, becomes more common with increasing age, is almost universal in those surviving past 40 years, and was the cause of death at age 32 years in Eisenmenger's original patient (2).