P406 LAUBRY–PEZZI SYNDROME: EVERYTHING IS NOT AS IT SEEMS

Abstract

Abstract Introduction Laubry–Pezzi syndrome is a congenital heart disease characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect (VSD), mostly supracristal, leading to severe aortic regurgitation (AR). It has been reported nearly always in childhood, the Venturi effect is the predominant factor and onset symptoms may be variable. Case Report A 61–years–old male was admitted to our intensive case unit for chest pain radiated to interscapular region and exertional dyspnea. Hemodynamic parameters were normal. At ECG sinus rytm with heart rate 92 bpm and non–specific repolarization abnomalities were reported. Hs troponin I was 276 ng/L, myoglobin 30.2 ng/mL and BNP 325 pg/mL. Transthoracic echocardiography showed a dilated left ventricle (LV EDV 107 mL/m2) with normal ejection fraction (55%), severe AR without aortic root dilation and a suspicious shunt left to right at level of interventricular septum. Therefore, transesophageal echocardiography was performed and confirmed severe AR by probable bicuspid valve and right cusp prolapse, in absence of calcifications and/or vegetations by endocarditis, restrictive perimembranous VSD (maximum diameter 0.6 cm) and ostium secundum ASD with shunt L–R. Right chambers were not dilated and non invasive systolic pulmonary artery pressure was 43 mmHg. Coronary angiography was performed and showed a significant stenosis of distal left anterior descending (LAD) artery and of proximal circumflex artery. Right heart catetherization excluded significant high values of pulmonary pressures (mPAP=18 mmHg), of pulmonary capillary wedge pressure (9 mmHg), with a mild increase of pulmonary vascular resistances (1.16 HRU; nv < 96). Coronary artery bypass grafting (left internal mammary artery on LAD and Y–graft radial artery on obtuse marginal artery), aortic valve replacement with bioprothesis (Inspiris Resilia 23 mm), ASD closure by direct suture and VSD closure with pericardial patch were performed. No post–surgical complications were reported. Interestingly, during the replacement of aortic valve, it resulted tricuspid, confirming the suspicion of Laubry Pezzi syndrome. Conclusions our case was object of great debate because restrictive VSD and severe AR were not previously known, were diagnosed in middle age and until then paucisymptomatic. Laubry–Pezzi syndrome is a very rare disease that may explain controversial cases of severe AR.