Introduction: Double-outlet right ventricle (DORV) with a subaortic ventricular septal defect (VSD) associated with subpulmonary stenosis is a complex cyanotic congenital heart disease, simulating tetralogy of Fallot. One of the most severe complication of the diseases from Fallot spectrum is cerebral infectious involvement due to right-to-left shunt associating an increased mortality risk.
Case presentation: A 28-year old male presented with fever, chills and dyspnea on minimal exertion within the last week. He was diagnosed at the age of 18 with DORV with subaortic VSD, subpulmonary stenosis and mitral valve malformation (anterior leaflet cleft and both leaflets prolapse) with secondary moderate mitral regurgitation, associated with major aortopul-monary collaterals, without pulmonary hypertension. There was no surgical correction at that moment. Two months prior to the admission in our department, he was diagnosed with brain abscess and otomastoiditis that were surgically managed. Multiple microorga-nisms were isolated from the two sources (A. meyeri, M. morganii, K. pneumoniae OXA-48, P. aeruginosa) and the patient received prolonged antibiotic therapy.
Upon current admission, the patient was febrile with resting hypoxia (O₂ saturation 78%). A grade IV/VI systolic murmur was heard over the precordium. Re-sting ECG showed sinus rhythm and right ventricular hypertrophy with right ventricular strain. Lab studies revealed secondary erythrocytosis, elevated blood le-vels of inflammatory markers without leukocytosis, ele-vated serum BNP level. On transthoracic echocardio-graphy, a hypoechoic mobile mass was observed on the atrial surface of the posterior mitral leaflet, finding that was confirmed by transesophageal echocardiography (TEE) and infective endocarditis (IE) was suspected; biventricular function was normal. Six blood cultures were drawn, considering the fact that the patient was still treated with antibiotics; 4 of them returned positi-ve for Candida albicans. Thus, the patient met the 2 ma-jor criteria according to modified Duke criteria for IE and Candida albicans associated IE was diagnosed. An-tifungal therapy was initiated and administered for one month. At the end of the treatment, the inflammatory syndrome improved and the TEE revealed important reduction of the vegetation, but worsening of the mi-tral regurgitation and moderate left ventricular systolic dysfunction. Thus, the patient has a clear indication for mitral valve replacement together with complete repair of the cardiac malformation that seems still feasible as there is no pulmonary vascular disease and the systolic function of the right ventricle is normal. In addition, life-long suppressive antifungal therapy is necessary.
Particularities: This case brings to light an extremely rare scenario – fungal endocarditis in an adult patient with complex congenital cardiac disease. The multitu-de of predisposing factors in this case is remarkable: the cardiac malformation (including organic mitral valve disease) and the particular context- the initial appearance of an another complication associated with congenital cardiac diseases, the brain abscess requiring surgery, followed by prolonged antibiotic therapy and prolonged imobilisation. The patient also presented all the predictive aspects for a high risk of embolization (mitral valve disease, mobile, large vegetation, Candida etiology), leading to two episodes of transient ischemic attack during admission.
Conclusion: IE is a severe pathology, frequently com-plicating the natural history of congenital heart disea-ses, especially unrepaired. Fungal endocarditis remains the most severe form of IE, with a high mortality rate of about 50%, highly challenging regarding the diagnosis and the management. This case illustrates how vicious the circle of complications can get in a case of unrepai-red cyanotic cardiac malformation and the difficulty of breaking this circle.