David Shwann
Abstract
Emerging science and biotechnologies have enabled the diagnosis of patients who were previously characterized phenotypically, without knowledge of the causative genotype. Infective endocarditis was diagnosed in a 31-year-old man from French Guiana, who has been frequently hospitalized. At the age of six, Marfan syndrome was clinically established without a molecular diagnosis. His nonadherence to medical therapy against MFS affected both his aortic disease and systemic valve. Initial examinations revealed fever, lower leg petechiae, ejection systolic murmur, and unaltered aortic refraction. Computer and transesophageal echocardiography disclosed flail of the anterior mitral leaflet, severe mitral regurgitation, a gradually crippled systolo-diastolic aortic prosthetic velocity, paravalvular aortic regurgitation, and a mobile 43/13-mm vegetative gelatinous cuspule prolapse sticking its lower side on the mitroelongation, the upper part on the aortic homograft cylinder, and the sinus end in the jelly of the aortic-splenic fistula. Two distinct hospital admissions, relying on peculiar germs and antibiogram, pointed out an evolution of the causal infection from Klebsiella pneumoniae to Candida glabrata resistant to fluconazole. According to maladaptive dysfunctional baroreceptor reflex, the initial widow’s peak of 180/100 decreased to 110/210 mmHg in vasoplegia, with a systolic gradient down to 40 mmHg and a diastolic gradient moderately up to 130, randomly top 180. Creatine kinase-MB was atrociously much higher than its normal level. Blood cultures were 3/3 and 2/2 positive, with freely contaminating pyocyanic and medical-technical Staphylococcus aureus. After three weeks of a combination of broad-spectrum antibiotics without possible immunoglobulins, the vegetations had vanished. He was discharged from the hospital after 77 days in good general condition, with a healthy creatine kinase-MB, and bacteriologically cured. No vegetation was found on the cardiac valves.
Keywords: Marfan syndrom; Infective endocarditis; Mitral valve regurgitation
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