A 55-year-old woman with a history of unrepaired ventricular septal defect (VSD) and Eisenmenger physiology presents to your clinic. Her most recent hemoglobin measured 17.5 g/dL (11.5 to 15.0), hematocrit 55% (36 to 46), mean corpuscular volume (MCV) 76 (83 to 99), and platelet count 140 × 103 cells/μL (150 to 400). She reports New York Heart Association class III limitations with increasing fatigue and infrequent headaches over the last 6 months. Blood pressure (BP) 110/70 mmHg, heart rate (HR) 70 BPM, and regular, O2 saturation 77% on room air. Cardiac examination reveals peripheral clubbing and cyanosis, a parasternal heave, loud P2 , and a murmur of tricuspid regurgitation (TR). Electrocardiogram (ECG) shows sinus rhythm. She has had repeat phlebotomy for treatment of presumed hyperviscosity syndrome but does not feel any better.
What of the following options is the most appropriate next step in management?
Obtain iron studies. Eisenmenger syndrome is the most extreme manifestation of pulmonary arterial hypertension associated with any nonrestrictive congenital heart defect that exposes the pulmonary vascular bed to systemic pressures. The development of pulmonary obstructive arteriopathy and increased pulmonary vascular resistance leads to shunt reversal and cyanosis. Secondary erythrocytosis is a physiologic response to chronic hypoxemia. Eisenmenger syndrome is a multisystem disease that also results in abnormal clotting, impaired renal function, altered uric acid and bilirubin metabolism, and musculoskeletal disease including gout. A common misconception in the management of patients with cyanotic coronary heart disease (CHD) is that an increased hematocrit level alone is an indication for phlebotomy. In fact, therapeutic phlebotomy has a very limited role in patient management and should only be performed if the hemoglobin is more than 20 mg/dL and the hematocrit is greater than 65% with symptoms of hyperviscosity and no evidence of dehydration. Symptoms of hyperviscosity include headache, fainting/dizziness, altered mentation, altered vision, tinnitus, myalgias, and restless legs. Hyperviscosity symptoms should disappear after adequate phlebotomy. Eisenmenger patients with a history of repeat phlebotomies are at increased risk for iron deficiency anemia, which itself is associated with increased stroke risk. The patient’s history of phlebotomies, persistent fatigue, low MCV, and low hemoglobin (relative to oxygen saturation) are all suggestive of iron deficiency anemia. Iron studies are the most appropriate next investigation in this context. Pulmonary vasodilator therapy has been shown to improve 6-minute walk distance in patients with Eisenmenger physiology; however, further investigations are generally indicated prior to commencement (e.g., pulmonary function tests with volumes and CO2 diffusion, computed tomography for exclusion of pulmonary emboli, cardiac catheterization with vasodilator challenge). Heart–lung transplantation may be considered in Eisenmenger patients with severe limitations; however, long-term survival after heart–lung transplantation is often inferior to continuing conservative management in this population.
References:
A 25-year-old man presents to your clinic with 48-hour history of documented fever and chills. He has a history of a “hole in the heart” and examination reveals a 4/6 systolic murmur heard loudest at the lower left sternal edge. A restrictive muscular VSD is confirmed on echocardiogram.
Which of the following is the most appropriate next step?
Blood cultures. The incidence of IE in young adults with CHD is almost 35-fold that of the general population. Hence, a high index of suspicion for IE is required in these patients. ACHD patients who present with fever and potential IE should have blood cultures drawn before antibiotic therapy is initiated to avoid subsequent false-negative blood cultures and, in the instance of positive blood cultures, to guide antibiotic treatment. In this case, blood cultures should be taken as the first step in the patient’s management and prior to commencement of antibiotic therapy. Since the sensitivity of TTE is too low to exclude IE, TEE should be performed after multiple sets of blood cultures are taken. Surgery for IE is indicated in patients with recurrent emboli, medically uncontrolled infection, prosthetic material infection, CHF, and development of heart block.
Reference:
Hayes CJ, Gersony WM, Driscoll DJ, et al. Second natural history study of congenital heart defects. Results of treatment of patients with pulmonary valvar stenosis. Circulation. 1993;87:I28–I37.
Blood cultures are positive for Streptococcus viridans and the patient is treated for infective endocarditis (IE). A small mobile echodensity is noted adjacent to the VSD. At clinic review 3 months later he is much improved, repeat blood cultures are negative, and transesophageal echocardiography (TEE) is negative for vegetations. The patient asks whether his VSD should now be closed.
What is the best answer?
Closure is indicated in patients with a VSD complicated by IE (AHA guidelines, class I recommendation, level of evidence C). VSD closure is also indicated in the following circumstances:
For which of the following conditions is infective endocarditis (IE) prophylaxis not required prior to extensive dental procedures (more than one option may be correct)?
Ebstein anomaly without prior intervention. Current AHA guidelines for ACHD patients recommend antibiotic prophylaxis before dental procedures in the following patient subgroups:
Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults with Congenital Heart Disease). Circulation. 2008;118:e714–e833.
With which of the following adult congenital heart conditions can the following ECG tracing be seen in figure below:
Ebstein anomaly. The ECG demonstrates a short PR interval, presence of delta waves, and wide QRS interval that are all consistent with preexcitation and Wolff-Parkinson-White syndrome. Wolff-Parkinson-White syndrome is commonly associated with Ebstein anomaly. Catheter ablation can be beneficial for treatment of recurrent supraventricular tachycardia in some patients, although recurrence is common due to the presence of multiple accessory pathways.
Oh JK, Holmes DR Jr, Hayes DL, Porter CB, Danielson GK. Cardiac arrhythmias in patients with surgical repair of Ebstein’s anomaly. J Am Coll Cardiol. 1985;6:1351–1357.
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