Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement

Neonatal Marfan syndrome is a rare condition with poor prognosis because of severe mitral and/or tricuspid valve insufficiency. Mitral valve replacement is sometimes required in early infancy, while tricuspid valve replacement is rarely done. We report the first infant neonatal Marfan syndrome case with a missense variant of c.3706T>C in the fibrillin-1 gene that was successfully managed by mitral and tricuspid valve replacement. Early multiple-valve replacement may sometimes be required during infant age in this genetic syndrome.

Congenital Pseudoaneurysm of the Mitral Aortic Intervalvular Fibrosa in neonatal Marfan syndrome -- Transthoracic Echocardiogram and Computed Tomography images

Congenital Pseudoaneurysm of the mitral aortic intervalvular fibrosa (P-MAIVF) is extremely rare condition. We report a case of neonatal Marfan syndrome with unique and rare diagnosis of case of congenital pseudoaneurysm of the mitral aortic intervalvular fibrosa, where the transthoracic echocardiogram and computed tomography images described a congenital pseudoaneurysm of the mitral aortic intervalvular fibrosa.

Neonatal Marfan Syndrome

Objective The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1) with skeletal, cardiac, and ocular involvement. Study Design We report on a full-term male neonate, who showed at birth characteristics and dysmorphisms suggestive of nMFS, combined with the detection of severe cardiovascular disease. A multidisciplinary team made up of neonatologists and pediatricians, cardiologists, geneticists, ophtalmologists, physiatrists and physioterapists was formed to manage this patient. Results and Conclusion Early diagnosis of this rare condition is critical for adequate treatment and specific follow-up, and impacts significantly on prognosis.