Eisenmenger Syndrome Clinical Presentation
- Author: Mikhael F El-Chami, MD; Chief Editor: Park W Willis IV, MD more...
Symptoms related specifically to pulmonary hypertension result from the inability to increase pulmonary blood flow in response to physiologic stress. Other symptoms are caused by various multisystem complications associated with cyanotic congenital heart disease. The Dana Point studies offer clinical aspects and diagnostic options, medical treatments, and surgical options.
Symptoms of pulmonary hypertension include the following:
Severely reduced exercise tolerance with a prolonged recovery phase
Symptoms of heart failure include the following:
Paroxysmal nocturnal dyspnea
Symptoms of erythrocytosis include the following:
Paresthesias of the digits and lips
Blurred or double vision
Symptoms of a tendency toward bleeding include the following:
Mild mucocutaneous bleeding
Symptoms of vasodilation include the following:
Symptoms of cholelithiasis include the following:
Right upper quadrant pain
Symptoms of nephrolithiasis include the following:
Joint pain and swelling
Additional symptoms include the following:
Paradoxical embolus can cause symptoms of localized vascular insufficiency end-organ ischemia
Hypertrophic osteoarthropathy can cause long bone pain and tenderness
Retinal complications include episodes of transient visual loss and spontaneous hyphemas
Patients who develop Eisenmenger syndrome may be asymptomatic for long periods of time. The elevated pulmonary vascular resistance (PVR) prevents pulmonary overcirculation and the symptoms of heart failure. This can result in a delay in diagnosis.
In the first weeks of life when the PVR begins to fall toward adult levels, an infant with a large atrial septal defect (ASD), ventricular septal defect (VSD), or patent ductus arteriosus (PDA) may present with congestive heart failure symptoms due to the large left-to-right shunt. This may simply be reflected by poor weight gain.
Infants with the same defects who maintain a high PVR have less left-to-right intracardiac shunting and less pulmonary blood flow. Therefore, developing Eisenmenger physiology may remain undetected in infants with a high PVR and relatively large defects because they lack a loud systolic murmur and/or diastolic rumble and the symptoms of heart failure.
Patients may have a period of poor weight gain, reflecting congestive heart failure, that improves as pulmonary pressures increase and overcirculation decreases. Clues to the diagnosis may include only dyspnea upon exertion and exercise intolerance. These symptoms become increasingly evident with advancing age, particularly at adolescence, and may progress to lethargy and syncopal episodes.
Erythrocytosis secondary to chronic cyanosis is an adaptation to low levels of circulating oxyhemoglobin and is present in most patients. Excessive polycythemia may result in hematocrit levels of greater than 65% and hyperviscosity syndrome. Hyperviscosity may lead to thromboembolic events, cerebrovascular complications, gout, chest pain from pulmonary infarction, and hemoptysis. Most of the symptoms are nonspecific and are confirmed if they are relieved by phlebotomy.
Any of the multitude of multisystem complications that occur in patients with congenital heart disease may be present.
Cardiovascular findings include the following:
Central cyanosis (differential cyanosis in the case of a PDA)
Jugular venous pulse wave may be A-wave dominant, and, in the presence of a significant tricuspid regurgitation, the V wave may be prominent; central venous pressure may be elevated.
Precordial palpation reveals a right ventricular heave and, frequently, a palpable S 2.
Loud P 2
High-pitched early diastolic murmur of pulmonic insufficiency
Right-sided fourth heart sound
Pulmonary ejection click
Single S 2
As the pulmonary vascular resistance progressively rises, the holosystolic murmur of a nonrestrictive VSD shortens and softens, first becoming early systolic in timing, before disappearing entirely as the shunt is reversed.
The continuous murmur of a PDA disappears when Eisenmenger physiology develops; a short systolic murmur may remain audible.
Other signs of Eisenmenger syndrome include the following:
Respiratory signs - Include cyanosis and tachypnea
Hematologic signs - Include bruising and bleeding; funduscopic abnormalities related to erythrocytosis include engorged vessels, papilledema, microaneurysms, and blot hemorrhages
Abdominal signs - Include jaundice, right upper quadrant tenderness, and positive Murphy sign (acute cholecystitis)
Vascular signs - Include postural hypotension and focal ischemia (paradoxical embolus)
Musculoskeletal signs - Include clubbing, tenderness over the metacarpal or metatarsal joints (hypertrophic osteoarthropathy), and joint effusions
Cutaneous signs - The skin demonstrates fewer urate deposits than are commonly observed in primary gout
Ocular signs - Include conjunctival injection, rubeosis iridis, and retinal hyperviscosity changes
Clinical findings in progressing disease
Examination findings vary with the progression of the disease. Early in life, infants with a large systemic-to-pulmonary communication may demonstrate mild pulmonary overcirculation with symptoms of cor pulmonale. Initially, cyanosis is absent, and infants present with the signs and symptoms of heart failure. Physical examination may reveal tachypnea, nasal flaring, grunting, retractions, and tachycardia.
An auscultatory examination may reveal a hyperactive precordium, systolic flow murmur, diastolic rumble, and hepatosplenomegaly. Cardiac examination findings are determined by the underlying anatomic defects. Delayed capillary refill may be present, indicating low cardiac output.
As the PVR increases, the pulmonary circulation receives less blood flow, with gradually advancing pulmonary artery pressure. Symptoms of congestive heart failure wane. The right ventricle may become hypertrophied, and the chest, when examined, may be asymmetrical, with a right ventricular heave and a palpable P2 (ie, a pulmonary closure sound that is so forceful that it can be felt).
As pulmonary resistance increases over time, a relative decrease in the left-to-right intracardiac shunting occurs, initially with periods of subclinical right-to-left and bidirectional shunting, followed by frank cyanosis, clubbing, and polycythemia (giving a ruddy appearance to the skin).
A hallmark of Eisenmenger syndrome is this seemingly improved clinical condition, despite the lack of change in therapy for congestive heart failure. It represents a physiologically normalized condition caused by the progressively worsening pulmonary vascular obstructive disease (PVOD), with resolution of pulmonary overcirculation and heart failure.
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