Echocardiography confirms doming valvular pulmonary stenosis with a mean Doppler gradient of 40 mmHg. There is no significant pulmonary regurgitation or TR. ECG is normal. The patient undergoes cardiac catheterization (results below):
What is the most appropriate management for this patient?
Balloon valvotomy. Echocardiography (TTE ± TEE) generally provides a definitive diagnosis in most patients with pulmonary stenosis. Doppler gradients from echo are adequate for deciding on the timing of intervention. Cardiac catheterization may be used to confirm the diagnosis of pulmonary stenosis and to exclude pulmonary hypertension in cases where this is a concern.
The cardiac catheterization results confirm RV hypertension (RV systolic pressure 70 mmHg) with a slightly elevated end-diastolic RV pressure (15 mmHg). RV hypertension should be differentiated from pulmonary hypertension: The finding of normal main PA pressures distal to the site of valvar stenosis (+ normal transpulmonary gradient) excludes pulmonary hypertension in this patient. Hence, vasodilator challenge and referral to a pulmonary hypertension are not indicated.
For patients with domed valvular pulmonary stenosis, balloon valvotomy is the treatment of choice. Balloon valvotomy is recommended in patients with a peak instantaneous Doppler gradient greater than 60 mmHg or a mean gradient greater than 40 mmHg (assuming less than moderate pulmonary regurgitation). There is no role for medical therapy in valvular pulmonary stenosis patients who meet criteria for intervention.
Reference:
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.
Which complications are seen in adults late after the atriopulmonary Fontan procedure among those born with tricuspid atresia?
All of the above. Protein-losing enteropathy is a condition diagnosed in <5% of Fontan patients, in which protein is lost via the gut resulting in ascites, peripheral edema, and pleural and pericardial effusions. The precise cause of protein-losing enteropathy is unknown, although elevated systemic venous pressures appear to play a role. The diagnosis is made by measuring increased a1-antitrypsin in the stool. Thromboembolic complications occur in up to 20% of patients with the slow passive flow in the Fontan circuit and the coagulation abnormalities consequent on liver congestion both playing a role.
Atrial tachyarrhythmias are very common in adults after the Fontan operation, the most common type being an atypical form of atrial flutter called “intra-atrial reentrant tachycardia” or IART. IART arises from macroreentrant circuits around surgical scars and patches and tends to be slower than typical flutter. Early recognition and treatment of IART is important for preventing complications such as thromboembolism, hemodynamic instability, syncope, and death. Unfortunately, recurrence of IART is common even in the setting of chronic antiarrhythmic medications and catheter-based ablation.
References:
Which of the following syndromes is associated with pulmonary arteriovenous fistula?
Weber-Osler-Rendu syndrome. Pulmonary arteriovenous fistula involves direct communication between pulmonary arteries and veins. Most patients have associated Weber-Osler-Rendu syndrome, a condition associated with the presence of multiple telangiectasias. Williams syndrome is associated with mental retardation, elfin facies, and supravalvular aortic and pulmonic stenosis. Bland-Garland-White syndrome involves the anomalous origin of the left coronary artery from the PA. Kartagener syndrome is associated with situs inversus, sinusitis, and bronchiectasis. Crouzon syndrome is associated with PDA and aortic coarctation.
Common Chromosomal Abnormalities Seen in Adult Congenital Heart Disease:
What is the most common cardiac defect seen in patients with Noonan syndrome?
Pulmonary stenosis. Pulmonary stenosis is the most common cardiac abnormality (40%) seen in patients with Noonan syndrome. Other associations include AVSDs (13.8%), coarctation of the aorta (12.5%), and hypertrophic cardiomyopathy (8.8%).
Although less common in Noonan syndrome patients, LVOT obstruction may be due to asymmetric hypertrophy and valvular or supravalvar aortic stenosis.
The most common chromosomal abnormality associated with TOF is:
22q11.2 microdeletion.
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