We report 4 teenage patients who, after successful palliation of severe aortic valve stenosis by balloon aortic valvuloplasty in early infancy, presented within the previous 3 years with significant left ventricular (LV) diastolic heart failure. All patients had remained asymptomatic until their teenage years and had normal or hyperdynamic LV systolic function on presentation, with limited residual aortic valve stenosis and regurgitation. All underwent echocardiography, cardiac catheterization, and cardiac magnetic resonance evaluation. One notable common feature in the 4 patients was the presence of a confluent layer of LV subendocardial hyperenhancement demonstrated by late gadolinium enhancement technique. Histopathology was available for 2 patients, which documented significant LV endocardial fibroelastosis. One patient who underwent endocardial fibroelastosis resection in conjunction with aortic valve replacement had late clinical improvement. In conclusion, this group of patients may represent an important emerging clinical entity and merits close clinical surveillance, with prospective assessment of diastolic function.
Since its inception approximately 25 years ago, balloon aortic valvuloplasty (BAVP) has become the primary therapy for severe aortic valve stenosis (AS) during early infancy in many centers. Although early and intermediate results are well described, 10- to 20-year follow-up data are only now becoming available. We report a series of 4 teenage patients who, after successful palliation of severe AS with BAVP in early infancy, presented within the previous 3 years with significant left ventricular (LV) diastolic heart failure. This group of patients may represent an important emerging clinical entity. We describe their clinical course and echocardiographic, cardiac magnetic resonance imaging, cardiac catheterization, and histopathologic findings.
Methods and Results
Baseline characteristics, procedural history, diagnostic evaluation on late presentation, and clinical outcome of 4 patients who developed LV diastolic heart failure late after BAVP in infancy for severe AS are summarized in Table 1 . Three of the 4 required additional BAVP for recurrent stenosis. Patient 3 developed progressive aortic valve regurgitation after the initial BAVP, which led to a surgical valvuloplasty at 4 years of age and eventual valve replacement at 10 years of age. Patient 4 underwent muscle bundle resection and infundibular patch for a 2-chambered right ventricle at 3 months of age.
| Patient Number | Age (years) at Presentation/Sex | Aortic Valve Anatomy | Age at BAVP | Echocardiography | MDE CMR | Catheterization | AVR or OHT | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ejection Fraction (%) | Diastolic Dysfunction Grade | CI (L/min/m 2 ) | PVR (Wood units, m 2 ) | PAP (mm Hg) | LVEDP (mm Hg) | AS Peak Gradient (mm Hg) | ||||||
| 1 | 14/M | Bicuspid | 1 day, 2 months, 10 month | 76 | III | + | 3.0 | 10.7 | 60 | 40 | 25 | OHT |
| 2 | 15/M | Bicuspid | 2 weeks ⁎ , 4 months, 10 years | 72 | III | + | 2.7 | 12.6 | 64 | 30 | 35 | AVR |
| 3 | 16/M | Unicuspid | 1 week | 62 | III | + | 2.8 | 2.9 | 29 | 22 | 50 | AVT |
| 4 | 19/M | Unicuspid | 1 day, 1 week, 3 months | 56 | III | + | 2.1 | 4 | 38 | 30 | 20 | 0 |
All patients remained asymptomatic until their teenage years when, in the setting of normal or hyperdynamic LV systolic function, they developed progressive heart failure symptoms including dyspnea on exertion, increasing fatigue, and decreased exercise tolerance.
On their echocardiograms at presentation, all met criteria for grade III diastolic dysfunction with septal e′ wave <8 cm/s, E/A wave ≥2, deceleration time <130 ms, and left atrial volume ≥40 ml/m 2 . Three patients had qualitatively mild aortic regurgitation and the patient who had undergone aortic valve replacement had no regurgitation. Previous echocardiograms were available for review in patients 1 and 3. These 2 had developed left atrial dilation >7 years previously. Patient 1 underwent a marked deterioration in Doppler indexes of diastolic dysfunction in the 3 months preceding clinical presentation. Patient 3 did not have a comprehensive assessment of diastolic function before onset of symptoms.
All 4 patients underwent cardiac catheterization ( Table 1 ) and had aortic valve pressure gradients from 20 to 50 mm Hg and increased mean pulmonary artery and LV end-diastolic pressures. Pulmonary vascular resistance was moderately to severely increased in all patients, and there was little change with oxygen or inhaled nitric oxide administration. Epicardial coronary arteries were unremarkable. Patient 2 had undergone a catheterization with BAVP 5 years before presentation, which recorded a pulmonary capillary wedge pressure of 14 mm Hg at baseline. After angiography wedge pressure and LV end-diastolic pressure increased to 20 mm Hg and remained high after intervention. The other 3 patients had not undergone catheterization since infancy.
Cardiac magnetic resonance evaluation using the late gadolinium enhancement technique demonstrated a thin, circumferential, subendocardial layer of hyperenhancement in the left ventricle of all patients ( Figure 1 ). In patients 3 and 4, LV myocardial architecture had a noncompacted appearance on cine and spin echocardiographic imaging. Quantification of aortic regurgitation by flow analysis was performed in 3 patients and confirmed mild regurgitation. No patient had previous cardiac magnetic resonance evaluation for comparison.
