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Congenital Aortic Stenosis Echo Conference January 7, 2008 Anne B. Riley.

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Presentation on theme: "Congenital Aortic Stenosis Echo Conference January 7, 2008 Anne B. Riley."— Presentation transcript:

1 Congenital Aortic Stenosis Echo Conference January 7, 2008 Anne B. Riley

2 Outline Subvalvular Valvular Supravalvular Morphology Epidemiology/ Genetics Clinical Presentation Associated syndromes Treatment options

3 Caused by an accumulation of fibroelastic tissue Thin, crescent shaped membrane just below the aortic valve Thick fibromuscular ridge Tunnel or tubular: long narrow fibromuscular channel along the LVOT Subvalvular:Morphology

4 Imaging Courtesy: Yale School of Medicine Atlas of Echocardiography SUBvalvular

5 Echocardiogram- PLA

6 SUBvalvular Echocardiogram- 5 Ch

7 Epidemiology Second most common form of Congenital AS More common in males (67-75% of cases) Accounts for 8-30% of LVOT obstruction Isolated SubAS is felt to be an acquired lesion- not seen in newborns Reports published of familial occurrence (? Morphologic abnormalities of LVOT lead to predisposition for cell proliferation) SUBvalvular

8 Clinical Presentation Lesion often found in children/young adults when evaluating for other cardiac defects Presentation in the adult is usually in evaluation of a heart murmur Tends to be a progressive lesion Aortic valve at risk (high velocity jet slams into aortic valve) Symptoms depend on degree of obstruction: fatigue, dyspnea on exertion, chest pain, syncope High risk for developing infective endocarditis SUBvalvular

9 Clinical Presentation Associated with other defects in 60% of cases –Multilevel LVOT obstruction –VSD –Coarctation of the aorta –PDA –Left superior vena cava –Valvular aortic stenosis SUBvalvular

10 Shone Syndrome Left ventricular inflow and outflow obstruction Parachute mitral valve (single pap muscle), supravalvular mitral ring, subaortic stenosis, coarctation Treated with surgery often in first year of life 15-year survival 89% Deaths secondary to severe mitral valve disease, need for multiple surgeries Brown et al. Operative results and outcome in patient with Shone’s anomaly. Ann Thorasic Surgery 2005 April 79(4). SUBvalvular

11 Evaluation Echocardiography: assess anatomy, measure gradient with continuous wave doppler Cardiac cath: further define mechanism and extent of subaortic obstruction (particularly if suspect multiple levels of obstruction) SUBvalvular

12 Treatment Definitive therapy: Surgical correction Timing is controversial because of high recurrence rate (~20%) Suggested indications in adults Peak gradient >50 mmHg, mean gradient >30 mmHg Progressive mod-severe AR, EF <55%, or LVESD 50 mm Symptomatic from obstruction Membranectomy +/- myomectomy, Konno- Rastan procedure (reconstruct LVOT) SUBvalvular ACC/AHA 2008 Guidelines for Management of Adults with CHD

13 Valvular Aortic Stenosis Unicuspid, –acommissural –unicommissural Bicuspid (most common) Trileaflet valve –Miniature –Dysplastic –Fusion of commissures Quadricupsid (usually incompetent, rarely stenotic)

14 Valvular Aortic Stenosis 14 year old boy referred for aortic stenosis and regurgitation MRI showed …

15 Unicuspid Valvular AS Diagnosis and Management of Adult Congenital Heart Disease

16 Case 30 year old Guatemalan man with mild shortness of breath on exertion and harsh holosystolic murmur at left sternal border and systolic murmur heard at base Echo shows …

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19 Echo showed Quadricuspid aortic valve, mild AI, no AS (peak velocity 1.3 m/s) Paramembranous VSD Large secundum atrial septal defect

20 Bicuspid Valve Morphology Right-Left Commissures –Gives anterior and posterior cusps –RCA and LMCA both from anterior cusp –False raphe also on anterior cusp Anterior-Posterior Commissures –Gives left and right cusps –RCA from right cusp and LMCA from left cusp –Often have a false raphe, on right cusp Valvular AS Right-Left Commissures Courtesy: Yale University School of Medicine Atlas of echocardiography N R L

21 Bicuspid Valvular AS

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24 Epidemiology Bicuspid valve accounts for 95% of cases of congenital AS, occurs in 1-2% of general population More common in males (3:1) Case reports of familial inheritance of bicuspid valves, tends to be autosomal dominant with variable penetrance Valvular AS

25 Clinical Presentation Initially asymptomatic Valvular AS Restricted motion Turbulent flow Abnormal folding Scarring, calcification, stenosis, regurgitation -66% develop aortic stenosis -Only 15% of patients have a normally functioning valve in the 5 th decade

26 Bicuspids and the Aorta Often have abnormalities of the aortic media Increased risk for dilatation, dissection (5- 9x) and rupture of ascending aorta Previously thought to be secondary to “poststenotic turbulence” Abnormalities of ascending aorta occur irrespective of degree of stenosis or regurgitation Valvular AS

27 Monitoring and Treatment Dilated aortic root (>4 cm): yearly imaging of aorta (echo, CT?, MRI?) Recent data to suggest that ARBs slow the rate of progression of aortic root dilatation in Marfan’s patients Brooke et al. Angiotensin II Blockade and Aortic root dilation in Marfan’s Syndrome. NEJM 2008 Valvular AS

28 Intervention Valve replacement surgery indicated for patients with severe stenosis who are symptomatic or are developing LV dysfunction (EF<50%) or LV dilatation Consider surgery who have moderate stenosis with moderate AR or dilated ascending aorta Repair/replacement of the ascending aorta when 5 cm or expanding at a rate >5 mm/yr Valvular AS

29 Supravalvular Aortic Stenosis Least common lesion of the LVOT Courtesy: Yale University School of Medicine Atlas of Echocardiography Hourglass vs Diffuse narrowing

30 Associated Abnormalities Aortic valve leaflets: thickened, redundant, bicuspid Coronary artery stenosis Coarctation of the aorta or stenoses of carotid, renal, iliac Pulmonary artery stenoses SupraValvular

31 Classification Williams syndrome Autosomal dominant form without features of Williams syndrome Sporadic SupraValvular

32 Williams syndrome Affects 1/10,000 individuals Supravalvular AS (70%) Mental retardation Elfin facies Cocktail personality Renovascular hypertension Stellate iris MRI Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome SupraValvular

33 Genetics and Pathology Mutation in or deletion of the elastin gene located on chromosome 7q11.23 Aortic Media is affected: –a reduction of elastic tissue with disorganized elastin fibers –Decreased elasticity, increased shear stress-> smooth muscle hypertrophy and collagen deposition SupraValvular

34 Therapy: Surgery Surgical enlargement of sinotubular area and ascending aorta Recommended with symptoms (angina, dyspnea, syncope) or mean pressure gradient of >50mmHg, or peak >70 mmHg Excision and end-end anastamosis Patch enlargement of sinotubular junction

35 Thank you

36 Special thanks to Eli (for suggesting this topic) and Anne Marie Valente of the BACH program

37 References Aboulhosn et al. Left Ventricular Outflow Obstruction: Subaortic Stenosis, Bicuspid Aortic Valve, Supravalvuar Aortic Stenosis, and Coarctation of the Aorta. Circulation 2006:114, Brooke et al. Angiotensin II Blockade and Aortic root dilation in Marfan’s Syndrome. NEJM Brown et al. Operative results and outcome in patient with Shone’s anomaly. Ann Thorasic Surgery 2005 April 79(4). Holt et al. Quadricuspid Aortic Valve with Aortic Insufficiency: case report and review of the literature. J Card Surg 2007: 22, Pober et al. Mechanisms and Treatment of Cardiovascular Disease in Williams-Beuren syndrome. J of Clin Investigation: 2008:5, ACC/AHA 2008 Guidelines for Management of Adults with Congenital Heart Disease. Diagnosis and Management of Adult Congenital Heart Disease. Gazoulis. 2003, Elsevier Limited. The Clinical Recognition of Congenital Heart Disease. Perloff. 1987, WB Saunders. Yale School of Medicine Atlas of Echocardiography

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