Unroofed coronary sinus in a patient with neurofibromatosis type 1.

ABSTRACT:

Objective

To report the uncommon association between neurofibromatosis type 1 (NF1) and unroofed coronary sinus.

Case description

Girl with four years and six months old who was hospitalized for heart surgery. The cardiac problem was discovered at four months of life. On physical examination, the patient presented several café-au-lait spots in the trunk and the limbs and freckling of the axillary and groin regions. Her father had similar skin findings, suggesting the NF1 diagnosis. The cardiac evaluation by echocardiography disclosed an atrial septal defect of unroofed coronary sinus type. This cardiac finding was confirmed at surgery. The procedure consisted of the atrial septal defect repair with autologous pericardium.

Comments

NF1 is a common autosomal dominant di

SUBMITTER: Bender LP 

PROVIDER: S-EPMC4183039 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature