P222 Pycnodysostosis and cardiac congenital defects: a rare association

Abstract

Abstract Introduction Pycnodysostosis is a rare recessive autosomal hereditary disease associated with skeletal dysplasia, with no evidence of associated cardiac defects. Clinical case The authors report a case of a 29-years old male patient with previous diagnosis of pycnodysostosis and a corrected subaortic ventricular septal defect. He was admitted at the emergency room due to productive cough with purulent expectoration which started one week before, refractory to the first antimicrobial therapy. The patient evolved with respiratory failure and necessity of orotracheal intubation and invasive mechanical ventilation. Large spectrum antimicrobial therapy was initiated after blood cultures and serologies for atypical agents of pneumonia collection (all negative). Due to the persistence of fever and elevation of inflammatory parameters, a transthoracic echocardiogram was performed to evaluate the presence of vegetations or other complications of infective endocarditis, not excluding this hypothesis. A transesophageal echocardiogram (TEE) was then performed showing a severe dysplastic mitral valve with flail of both leaflets conditioning a torrential mitral regurgitation occupying all the left atrium; and a tricuspid valve also dysplastic with no significant regurgitation. The patient was proposed to cardiac surgery. Intraoperative TEE revealed mitral dysplastic leaflets both inserted in a single papillary muscle constituting a congenital abnormally designated parachute mitral valve presenting with torrential mitral regurgitation and no images suggestive of vegetations neither other complications. A mechanical prothesis was successfully implanted in mitral position with subsequent favorable clinical evolution. Conclusion In this case, the authors report two concomitant rare congenital abnormalities: one in the mitral valve and the other affecting the skeletal system, which are usually not associated. Abstract P222 Figure.