Age: 70 years
Gender: Female
Occupation: Retired bookkeeper
Working diagnosis: Unrepaired ventricular septal defect with Eisenmenger physiology
HISTORY
The patient was discovered to have a murmur in her early adult years as part of a premarriage physical, and a VSD was suspected. This led eventually to a cardiac catheterization at age 25, in 1958. The study demonstrated systemic RV pressure with a bidirectional shunt through a VSD. No repair could be offered.
After her marriage, the patient conceived at age 26. The child was delivered 2 months prematurely and significantly underweight. Growing up, this child was developmentally delayed and had many special needs. The patient had one other pregnancy resulting in a spontaneous abortion. A third pregnancy was ectopic, resulting in tubal ligation.
In addition to a tubal ligation, she has had a right pyeloplasty done for ureteropelvic obstruction secondary to trauma from a motor vehicle accident, and has undergone cataract surgery.
The patient was regularly followed over the next several decades, during which time she worked as a bookkeeper and housewife. Generally, she felt well and capable of meeting life’s various demands.
She traveled whenever occasion permitted and never had difficulty with long distance air travel.
In recent years, she had intermittent palpitations, sometimes with associated dizziness. Continuous ECG monitoring documented infrequent episodes of nonsustained ventricular tachycardia. She never had a sustained arrhythmia requiring treatment. She did not experience hemoptysis or cerebrovascular events.
She noted intermittent mild hyperviscosity symptoms of headache and paresthesia of the fingers and toes. She developed flares of gout, which were treated with allopurinol. She was not treated with phlebotomy. She used supplemental oxygen of 2 L by nasal cannula chronically.
She presented for her biannual clinical review.
Comments: Although Victor Eisenmenger described the first case history and postmortem details of a patient with a large VSD and the pathological features of pulmonary hypertension in 1897, it was in the 1958 Croonian lectures by Paul Wood that Eisenmenger syndrome was finally understood and described in full as a pathophysiological concept. The term Eisenmenger complex came into use to describe “pulmonary hypertension at systemic level due to high pulmonary vascular resistance with reversed or bi-directional shunt,” with Wood stating, “It matters very little where the shunt happens to be. The distinguishing feature is not anatomy, but the physiological behaviour of the pulmonary circulation.”
This patient was first evaluated just as Paul Wood’s concept was being publicized, including his warning that repair of defects at this stage should not be performed. The advent of cardiopulmonary bypass around this time allowed some centers to offer correction. However, its use was not widespread.
Pregnancy in Eisenmenger syndrome is associated with substantial risk to mother and fetus. The maternal mortality rate is thought to be 30% to 50% with death usually occurring during delivery or within 1 week postpartum. Spontaneous abortion occurs in 20% to 40% of pregnancies, premature delivery in 50%, and perinatal mortality is as high as 28%. Most infants have intrauterine growth retardation in keeping with low maternal cardiac output and oxygen delivery during pregnancy. A review of 125 pregnancies in patients with pulmonary vascular disease, of which 73 pregnancies occurred in the setting of Eisenmenger syndrome, observed a maternal mortality rate of 36% in Eisenmenger syndrome and a neonatal mortality of 13%. Although pregnancy should be discouraged in women with Eisenmenger syndrome and elective abortion is advised, successful delivery has been possible under the guidance of a multidisciplinary team including cardiologists, obstetricians, anesthesiologists, and neonatologists.
In Eisenmenger patients who survive beyond the fifth decade, there is an increased likelihood for needing noncardiac surgery such as cholecystectomy. These patients have had a reported perioperative mortality rate as high as 30% with noncardiac surgery. However, with modern surgical techniques, anesthesia, and monitoring, the risk of death should be substantially improved.
It is important that anesthesia for noncardiac surgery be administered by a cardiac anesthesiologist with experience in patients with Eisenmenger syndrome. A minor fall in systemic pressure can increase right-to-left shunting and potentiate cardiovascular collapse. Surgery should be performed under local anesthesia when feasible and appropriate; otherwise, anesthesia that is least likely to decrease the systemic blood pressure and vascular resistance is recommended. Although epidural anesthesia has been used successfully in minor surgeries, general anesthesia is preferred. Prolonged fasting and volume depletion should be avoided prior to surgery, and maintenance intravenous fluids should be used appropriately. All intravenous lines should be equipped with air filters, and antibiotic prophylaxis against endocarditis should be provided, in harmony with recent guidelines. Systemic arterial hypotension should be treated aggressively, and blood loss should be minimized and treated promptly with blood products. A “normal” hematocrit will not provide adequate arterial oxygenation, and a higher hematocrit must be maintained. Routine use of a pulmonary artery catheter is not necessary, but a central venous pressure catheter and an arterial line are recommended in monitoring patients.
Most patients with Eisenmenger syndrome are symptomatic with complaints of exertional dyspnea or fatigue, palpitations, edema, and syncope. However, by adjusting their lifestyle accordingly, the majority are able to maintain an acceptable quality of life despite a decreasing exercise tolerance and increasing cyanosis during follow-up.
Although many providers may still recommend that these patients should not fly, Eisenmenger syndrome is not a contraindication to commercial air travel. A survey of 50 Eisenmenger syndrome patients showed no significant events compared to acyanotic patients, and experimental studies have shown that these patients have built-in coping mechanisms such that the effects of low oxygen tension are not as pronounced as in normal individuals. Advice to take precautions against thrombus formation during flight is worthwhile, as emboli may cross to the systemic circulation and cause a stroke or transient ischemic attack. Patients traveling from sea level to high-altitude destinations may notice more significant dyspnea on exertion, not surprisingly, and should be told of this likelihood and to restrict their physical activities.
Many patients with cyanotic heart disease die suddenly, although it is uncertain whether this is arrhythmic in origin. Unlike patients in other categories such as repaired TOF or patients with systemic RVs, unoperated patients with Eisenmenger syndrome present less commonly with symptomatic, sustained arrhythmia. Indeed, the development of atrial flutter or fibrillation in Eisenmenger syndrome can be a preterminal event.
Hyperviscosity symptoms include fatigue, headache, muscle aches, joint aches, gum bleeding, and easy bruising. Phlebotomy is sometimes prescribed to alleviate these symptoms. Most centers rightly discourage phlebotomy, however, as it can induce or enhance preexisting iron deficiency. Very occasionally phlebotomy may be tried for the alleviation of hyperviscosity symptoms (that can mimic the symptoms of iron deficiency) and then usually in conjunction with iron supplementation to avoid iron deficiency.
CURRENT SYMPTOMS
The patient was able to walk half a mile in 60 minutes and performed the household cooking. However, she was unable to do much of the housecleaning.
NYHA class: III
Comments: Although most Eisenmenger patients complain of exertional dyspnea and/or fatigue, a retrospective analysis of 188 Eisenmenger patients demonstrated that their perception of life was good and more than 70% maintained a satisfactory functional Ability index of 1 or 2 for more than 10 years. The Ability index stresses positive aspects of function rather than negative aspects.
Ability index 1: A normal life and full-time work or school
Ability index 2: Able to work with intermittent symptoms, but there is some interference with daily life
Ability index 3: Unable to work and limited in all activities
Ability index 4: Extreme limitation, dependent, almost housebound
CURRENT MEDICATIONS
Furosemide 40 mg daily
Digitalis 125 µg daily
Potassium 20 mEq daily
Allopurinol 200 mg daily
Comments: Eisenmenger patients should be kept well hydrated, and diuretics should be used judiciously. Allopurinol should be used to prevent gout rather than to treat asymptomatic hyperuricemia.
PHYSICAL EXAMINATION
BP 110/70 mm Hg, HR 72 bpm, oxygen saturation 82% on room air
Height 144 cm, weight 47 kg, BSA 1.51 m 2
Oropharynx: Prominent central cyanosis
Neck veins: JVP was 8 cm above the sternal angle, and with a prominent V-wave.
Lungs/chest: Auscultation of the chest was normal.
Heart: There was a parasternal impulse with an easily palpable pulmonary closure sound. The rhythm was regular. The pulmonary component of S2 was prominent. A grade 2 systolic ejection murmur and a grade 2 high-pitched diastolic murmur were heard over the pulmonary area. A grade 3 holosystolic murmur was heard over the tricuspid area. There were no gallops.
Abdomen: Soft and nontender; hepatomegaly not present
Extremities: Extremities were warm, and there was trace pedal edema. The nail beds had significant clubbing and cyanosis.
Neurologic: No focal deficits
Comments: The JVP may be normal or elevated, with a prominent V-wave if moderate or severe tricuspid regurgitation is present.
Signs of pulmonary hypertension include a right parasternal heave, palpable pulmonary valve closure, and a loud pulmonary heart sound. In the setting of a VSD, the second heart sound may be single. A high-pitched, diastolic pulmonary regurgitation murmur and a holosystolic murmur of tricuspid regurgitation may also be heard. In many patients a pulmonary ejection click and soft systolic ejection murmur are audible and are attributed to dilation of the main pulmonary artery.
Peripheral edema is absent unless RV failure occurs.
In a 1996 retrospective study of 162 patients with cyanotic congenital heart disease, 14% of patients had cerebrovascular events. This risk was increased in the setting of hypertension, atrial fibrillation, history of phlebotomy, and microcytosis (mean corpuscular volume < 82 fL). Microcytosis had the strongest risk association and was still associated with increased events after hypertension atrial fibrillation was excluded.
LABORATORY DATA
| Hemoglobin | 18.5 g/dL (11.5–15.0) |
| Hematocrit | 55.8% (36–46) |
| MCV | 95.3 fL (83–99) |
| Platelet count | 125 × 10 3 cells/µL (150–400) |
| Creatinine | 0.9 mg/dL (0.6–1.1) |
| Blood urea nitrogen | 19 mg/dL (6–20) |
| Serum iron | 102 µg/dL (40–150) |
| Iron binding capacity | 297 µg/dL (225–410) |
| Serum ferritin | 218 ng/mL (10–291) |
| Transferrin saturation | 34% (20–50) |
| Uric acid | 5.7 mg/dL (2.5–6.2) |
Comments: The degree of secondary erythrocytosis is closely associated with the severity of chronic hypoxemia. Compensated secondary erythrocytosis refers to a stable hemoglobin and hematocrit in an iron-replete state. Hyperviscosity symptoms are typically absent or mild even at hematocrit levels higher than 70%. Decompensated secondary erythrocytosis has been used to describe patients with iron deficiency and a constant cycle of phlebotomy for seemingly excessive erythrocytosis. Hyperviscosity symptoms can be severe and limiting, yet symptoms of iron deficiency can be very similar, and thus the correct etiology can be difficult to determine. The two indications for phlebotomy are moderate-to-severe hyperviscosity symptoms and preoperative phlebotomy to improve hemostasis.
Patients with cyanotic heart disease are at increased risk for both bleeding and thrombosis due to abnormalities in platelet and coagulation pathways. Bleeding is typically mild and self-limited, although severe hemoptysis is the most common and serious complication. Despite these hemostatic abnormalities, patients are not protected against thrombotic complications. Thrombosis is associated with low velocity blood flow in dilated pulmonary arteries, and with ventricular dysfunction. The incidence of large pulmonary arterial thrombosis is 20% to 30%. Although anticoagulation has been shown to reduce morbidity and mortality in patients with idiopathic PAH, there are no data to support the use of anticoagulation in adults with Eisenmenger syndrome. Strong indications for anticoagulation in Eisenmenger syndrome may include atrial flutter or fibrillation, recurrent thromboembolic events in the absence or iron deficiency or dehydration, mechanical heart valves, and other high-risk anatomy.
Serum uric acid is often increased in cyanotic ACHD. A retrospective study of 94 Eisenmenger patients in 2000 showed that serum uric acid was raised in these patients compared to age- and sex-matched control patients, and that the level of uric acid increased in proportion to the severity of the NYHA functional class. In a multivariate analysis including clinical, echocardiographic, and laboratory variables, the serum uric acid level was identified as an independent predictor of mortality.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 82 bpm
QRS axis: −54°
QRS duration: 112 msec
The rhythm is sinus. There is biatrial enlargement and LV hypertrophy with repolarization abnormality.
Comments: This ECG does not have any alarming high-risk markers such as supraventricular or ventricular arrhythmias.
Supraventricular tachycardia is common with 36% of Eisenmenger patients having this rhythm on 24-hour Holter monitoring. A history of supraventricular tachycardia requiring treatment is an independent predictor for mortality, with a hazard ratio of 3.44. It often heralds clinical deterioration with heart failure, peripheral embolism, or cardiovascular collapse. An increased precordial voltage as an index for RV hypertrophy has also been identified as an independent predictor of death with a hazard ratio of 1.61 per 1 mV increase. Though many Eisenmenger patients have ECG findings consistent with RV hypertrophy, they were not present here.
Stay updated, free articles. Join our Telegram channel
Full access? Get Clinical Tree
