Diagnosis and Management of Infantile Marfan Syndrome

¹ From the Department of Maternal and Child Health, Mary Hitchcock Memorial Hospital, Hanover, New Hampshire; the Departments of Medicine and Pediatrics, Johns Hopkins University, School of Medicine, Baltimore, Maryland; the Department of Cardiology, Children's Hospital, Boston, Massachusetts; the Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts; the Department of Medical Genetics, West Penn Hospital, Pittsburgh, Pennsylvania; the Department of Pediatrics, Queen's University, Kingston, Ontario, Canada; the Department of Pediatrics, Division of Genetics/Dysmorphology, University of Kentucky, Lexington, Kentucky; and the Medical Genetics-Birth Defects Center, Ahmanson Pediatric Center, Cedars-Sinai Medical Center, University of California Los Angeles School of Medicine, Los Angeles

Marfan syndrome is infrequently diagnosed early in infancy. The experience of the authors with 22 severely affected infants diagnosed as having Marfan syndrome in the first 3 months of life is described and the literature on 32 additional infants with Marfan syndrome is reviewed. It was found that serious cardiac pathology (82% of the patients described in the article, 94% of those described in the literature) may be present at birth, and that congenital contractures (64% of our cases, 47% of literature cases) are often an associated finding. Other useful clinical findings included arachnodactyly, dolichocephaly, a characteristic facies, a higharched palate, micrognathia, hyperextensible joints, pes planus, anterior chest deformity, iridodenesis, megalocornea, and dislocated lenses. Echocardiography was useful as a noninvasive method for defining the extent of cardiovascular involvement and following its course. Characteristic cardiac findings in early life included mitral valve prolapse, valvular regurgitation, and aortic root dilation. Cardiac function ranged from normal to poor, with a tendency to worsen. Of the 22 cases 3 infants died during the first year of life. Morbidity and mortality may be high when Marfan syndrome is diagnosed during infancy, and prompt recognition of this phenotype can facilitate management and counseling. Most such severe cases appear to be due to a sporadic mutation in a single germ cell of one parent. Many familial cases may have milder manifestations, be more difficult to detect during infancy, and have a better prognosis.

Key Words: Marfan syndrome • Beals syndrome • congenital contractures • aortic root dilation • mitral valve prolapse • arachnodactyly

Submitted on September 15, 1989
Accepted on December 20, 1989

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