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1 DECLARATION OF CONFLICT OF INTEREST No disclosures
2 Congenital Aortic Valve Disease and Aortopathy: Recent Advances Sub- and Supravalvular Aortic Stenosis Westfälische Wilhelms-Universität Münster Helmut Baumgartner Adult Congenital and Valvular Heart Disease Center University of Muenster Germany
3 Subaortic Stenosis Operated or unoperated - up to 6% of pts. seen in ACHD clinics Frequently (up to 60%) associated with other lesions: VSD AVSD Coarctation of the aorta Shone syndrome (coarctation, parachute MV, supravalv. mitral ring)
4 Subaortic Stenosis - Pediatric Considerations Acquired heart disease usually not present at birth but appears after first year of life (anatomic precursor + genetic?) Observation of rapid progression and increasing presence and severity of AR Early surgery even in mild disease? Brauner R at al J Am Coll Cardiol 1997;30:1835 However, progression varies widely and in particular mild disease frequently progresses slowly; less effect of surgery on AV disease than originally thought Coleman DM et al J Am Coll Cardiol 1994;24:1558 More conservative in mild subaortic stenosis (gradient < 30mmHg) Gersony WM J Am Coll Cardiol 2001
5 Subaortic Stenosis - Recurrence After Surgery Overall recurrence rate 15-27% More frequent in fibromuscular than in discrete (membranous) SAS Re-operation rate 12-20% Recurrence rate depends on Surgical technique Extent of obstruction relief at operation Residual gradient 30mmHg -> high risk of recurrence
6 Subaortic Stenosis - Recurrence After Surgery Risk factors for reoperation after repair for discrete subaortic stenosis Geva A et al J Am Coll Cardiol 2007;50: < 6mm distance between AoV and obstruction HR 5.1 Peak gradient by Doppler 60mmHg HR 4.2 Peeling of membrane from Ao or MV
7 Adult Patients with Subaortic Stenosis Not diagnosed during childhood Recognized but not operated on during childhood Residual obstruction after surgery during childhood Recurrent obstruction after surgery during childhood Aortic valve disease (regurgitation)
8 Echo Diagnosis
9 Subaortic Stenosis - When to (re)-intervene? Symptoms related to (re)stenosis -> mean gradient expected > 50mmHg reduced exercise capacity shortness of breath angina diziness, syncope Severe aortic valve disease (AR) Surgery in symptomatic pts. and asymptomatic pts. + LV enlargement and/or LVEF < 50%
10 Subaortic Stenosis - When to (re)-intervene? Asymptomatic pt. (without severe AR) - PROGNOSTIC CONSIDERATIONS Consequences for aortic valve (AR) Consequences of LVOT obstruction with pressure load for LV LVH LV myocardial fibrosis Arrhythmias LV dysfunction Sudden death
11 Subaortic Stenosis - When to (re)-intervene? Consequences of LVOT obstruction with pressure load for LV LVH LV myocardial fibrosis Arrhythmias LV-dysfunction Sudden death Pts. with unusually profound LVH (unproportional to stenosis cardiomyopathy?) LVH regression after surgery
12 HEART VALVE PROSTHESES
13 Subaortic Stenosis - When to (re)-intervene? (Re)-intervention in asymptomatic patients: AV considerations (AR)
14 JET DAMAGE
15 Subaortic Stenosis - When to (re)-intervene? (Re)-intervention in asymptomatic patients: AV considerations (AR)
16 Discrete Subaortic Stenosis in Adults Oliver JM et al J Am Coll Cardiol 2001;38: pts. (31 ± 17yrs, 64 females) 6.5% of pts. with CHD at study period Group A (N=29) surgery during adult life Group B (N=64) unoperated Group C (N=41) surgery < 15 years of age Age A: 56±15 yrs B: 27±13 yrs C: 21±4 yrs Associated lesions (VSD, AVSD, CoA a.o.) A: 7% B: 64% C: 44%
17 LVOTO (mmhg) Discrete Subaortic Stenosis in Adults Oliver JM et al J Am Coll Cardiol 2001;38: pts. with 2 exams, average interval 4.8±1.8 yrs Gradient increase 7.6±14mmHg; 2.3±4.7mmHg/yr Age 50 yrs Age < 50 yrs P = 0.01 Initial Follow-up P = NS Initial Follow-up
18 AR (Percent) AR Degree Mean ± SD Discrete Subaortic Stenosis in Adults Oliver JM et al J Am Coll Cardiol 2001;38: Presence and degree of AR in with (C) and without surgery during childhood (A+B) P = Group C Group A+B Group C Group A+B N=41 N=93 N=41 N=93 trace to mild mild to moderate moderate to severe 0 -
19 AR Degree Discrete Subaortic Stenosis in Adults Oliver JM et al J Am Coll Cardiol 2001;38: pts. with 2 exams, average interval 4.8±1.8 yrs Change in AR degree over time 1.3±.8 1.5± P = = trace to mild 2 = mild to moderate 3 = moderate to severe ± 0.8 Baseline 1.5± 0.9 Follow-up AR degree sign. related to LVOTO (p <.001) but not age (p =.055) 4 pts. with endocarditis!
20 Discrete Subaortic Stenosis in Adults Oliver JM et al J Am Coll Cardiol 2001;38: Prevalence is increasing (greater number of repaired CHD) LVOTO increases but very slowly, particularly at age < 50 years Average age for surgical repair > 50 years AR is very common but rarely hemodynamically significant AR shows usually little progression over time AR is more prominent in pts. after surgery
21 Subaortic Stenosis and AR Surgical relief of LVOTO improves AR Serraf A et al J Thrac Cardiovasc Surg 1999;117:669 Progression in severtiy of AR not significantly different in surgical and nonsurgical groups Giuffre RM et al Adv Ther 2004;21:322-8 No substantial change in AR during follow-up after surgery Stassano P et al Thorac Cardiov Surg 2005 Late worsening of AR related to initial gradient (>30mmHg) Karamlou T et al Ann Thorac Surg 2007:84 Predictors: small distance to AV, higher gradient, peeling of the membrane from the AV Geva A et al J Am Coll Cardiol 2007:50 Surgery did not have impact on the incidence and severity of AR Drolet Ch et al Can J Cardiol 2011:27
22 Baumgartner H et al Eur Heart J 2011
23
24 Patel B et al J Am Coll Cardiol 2010;56
25 Salahuddin S et al Heart 2010;96:1808
26 Supravalvular AS By far rarest obstructive lesion of the LVOT Histology: diseased media with an increased collagen content and reduced elastic tissue in the form of broken and disorganized elastin fibers (elastin arteriopathy) normal Aorta thickening irregular arrangement of elastic lamellae Stamm C et al Eur J Cardio-thoracic Surg
27 Supravalvular AS (SVAS) SVAS associated with Williams syndrome SVAS as inherited, autosomal dominant familial form without the nonvascular features of Williams syndrome -> elastin gene deleted or disrupted ± neighboring genes Sporadic cases of isolated SVAS hemizygous microdeletion on chromosome 7q11.23 identified in all three
28 Supravalvular AS (SVAS) Abnormalities of the AV in up to 50% In appr. 30% entire ascendig aorta, sometimes arch Obstruction of the pulmonary vasculature in up to 83% (all three forms of SVAS) Coronary arteries: - adhesion of the cusp leaflet edge to the narrowed STJ - obstr. by thickened aortic wall - high pressure -> premature arteriosclerosis Stamm C et al Eur J Cardio-thoracic Surg
29 Supravalvular AS (SVAS) Other Associated Lesions Aortic coarctation Patent ductus arteriosus Atrial septal defect Ventricular septal defect Tetralogy of Fallot Mitral valve abnormalities (elastin defect??)
30 Stamm C et al Eur J Cardio-thoracic Surg Aortic Regurgitation Kaushal et al Ann Thorac Surg 2010
31 Cardiac Outcomes in Adults With Supravalvular Aortic Stenosis (SVAS) Greutmann M, Tobler D, Sharma NC, Mebus S, Schuler P, Beauchesne L, Salehian O, Hoffmann A, Oechslin EN, Silversides CK. ESC ACHD centers N = 113 >18yrs Cardiac Events: CV death, SVT/VT >30s, ACS, Stroke, new onset CHF, endocarditis Surgery during adulthood Age at 1 st visit: 20 ± 4 yrs Williams-Beuren Syndrome 55% SVAS surgry during childhood 67% Multiple operations 34% NYHA II 8% RBBB 11% 16mmHg residual peak P 45% 50mmHg residua peak P 6% > mild AS / > mild AR 10/10% > mild MS / > mild MR 3/4%
32 Cardiac Outcomes in Adults With Supravalvular Aortic Stenosis (SVAS) Greutmann M, Tobler D, Sharma NC, Mebus S, Schuler P, Beauchesne L, Salehian O, Hoffmann A, Oechslin EN, Silversides CK. ESC ACHD centers N = 113 >18yrs Cardiac Events: CV death, SVT/VT >30s, ACS, Stroke, new onset CHF, endocarditis Surgery during adulthood Age at 1 st visit: 20 ± 4 yrs Williams-Beuren Syndrome 55% SVAS surgry during childhood 67% Multiple operations 34% NYHA II 8% RBBB 11% 16mmHg residual peak P 45% 50mmHg residua peak P 6% > mild AS / > mild AR 10/10% > mild MS / > mild MR 3/4% (more likely in WBS) (less likely in WBS)
33 Cardiac Outcomes in Adults With Supravalvular Aortic Stenosis (SVAS) Greutmann M, Tobler D, Sharma NC, Mebus S, Schuler P, Beauchesne L, Salehian O, Hoffmann A, Oechslin EN, Silversides CK. ESC 2011 Follow-up of 96 pts. median FU 6 yrs (0.1 30yrs) 20 events: - death 2 - SVT / VT 8 (7/3) - new onset CHF 7 - endocarditis 2 - stroke 1 Surgery - AVR 5 - SVAS repair 4 - PVI 1 - LV assist device 1 Predictors of events: multiple surgery, NYHA II, sign. MV disease Predictors of surgery: BWS, RBBB, >50mmHg gradient
34 Baumgartner H et al Eur Heart J 2011
35
36 Balloon Dilatation in Discrete Subaortic Stenosis Feasibilty shown (gradient reduction, no increase in AR) Very small patient numbers Residual gradient of concern No sufficient follow-up Rao PS et al J Invasive Cardiol 1990;2:65-71 Sharma S et al J Interv Cardiol 1991;4:105-9 Moskowitz WB et al J Invasive Cardiol 1999;11:116-20
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