A case of non-syndromic elastin arteriopathy

Objective: A 39 year-old patient is presenting in the cli-nic for dyspnea at moderate-low exercise and retroster-nal pain in moderate exercise with constrictive charac-ter (rare short-term crises, yields to rest), denies synco-pe. Objective is conscious, cooperative, overweight pa-tient (H=175cm, W=85kg, BMI=27,8kg/m2, BSA=2,01 m2) vesicular murmur present bilaterally without rales, TA upper left=right=130/90 mmHg, TA lower right 130/90 mmHg, TA lower left 140/80 mmHg, systolic aortic murmur grade 3/6, irradiated on bilateral caro-tid arteries, peripheral pulse present bilaterally, witho-ut signs of systemic congestion. Biologically, 106 mg/dl LDL, 45.2 μg/ml BNP, 117 mg/dl triglycerides and 0.85 mg/dl creatinine are detected.
Methods: Transthoracic echocardiography was perfor-med, which detected aortic disease with tight stenosis and slight regurgitation on a bicuspid valve with right and left coronary fusion, maximum gradient up to 85 mmHg and mean 53 mmHg, Vmax=4,6 m/s. A supraval-vular stenosis is noted as a fibrous pin of max 13 mm located at 0.9 cm from the aortic ring with ascending aortic poststenotic dilatation; LV of normal cavity di-mensions; Mild LVH with normal systolic function; minimal mitral regurgitation; normal right cavities wi-thout PAH.
Results: It was decided to continue imaging explora-tions with transesophageal echocardiography, which confirms aortic bicuspidy, aortic disease with severe valvular stenosis and mild regurgitation (grade II) also evidencing aortic root hypoplasia. 3D transesophageal echocardiography reveals a 0.8 cm2 aortic valve plani-metric area and 2.5 cm2 supravalvular aortic stenosis. In view of the injuries described up to this point, it was decided to continue with coronary and aortic angio-graphy that confirmed the supravalvular aortic stenosis and the absence of lesions in epicardial coronary arte-ries. In this context, the patient has a surgical indicati-on of replacement of aortic valve and aorta (Euroscore 29%). In the operative protocol the following were performed: aortic supravalvular stenosis diaphragm resection, aortic valve replacement with mechanical prosthesis Sorin Carbomedics no. 19, reconstruction of the aortic ring and aortic root by Gore Tex widening. Postoperatively the patient has a favorable evolution, is stably discharged hemodynamically and respiratory.
Conclusions: Aortic supravalvular stenosis is the rarest of obstructive lesions of LVOTO. Aortic valve abnor-malities occur in approximately 50% of cases, especi-ally bicuspid aortic valve. In the case of simple bicus-pid aortic valve with a high risk of aortic dissection the structure of the aortic wall is much like a marfanoid structure relative to bicuspid aortic valve associated with aortic supravalvular stenosis or aortic coarctation that would present a more resistant structure.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
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CODE: 379
CME Credits: 10 (Romanian College of Physicians)