Holmes heart and tetralogy of Fallot in association with PHACE

Abstract

PHACE is an association between large infantile hemangiomas and brain, arterial, cardiac, and/or ocular abnormalities. Aortic or subclavian aberrations are the most common cardiovascular anomalies in PHACE, whereas complex congenital heart disease is rare. We report a case of Holmes heart and three cases of tetralogy of Fallot in PHACE association. with complex congenital heart disease, but we excluded 1 previously reported with tricuspid atresia. 3 We report a case of Holmes heart and three cases of tetralogy of Fallot (ToF) with PHACE.A full-term infant girl was diagnosed prenatally with single-ventricle heart disease. At birth, she had a holosystolic murmur at the left sternal border and an upper systolic ejection murmur consistent with pulmonary stenosis. She also had a 4-9 7-cm telangiectatic patch within an area of pallor on the left cheek and ear, consistent with a reticular infantile hemangioma (IH) (Figure 1).Echocardiography revealed a double-inlet left ventricle with absent right ventricular sinus, normally related great arteries, and an infundibular outflow chamber leading to a unicommissural pulmonary valve with severe pulmonary stenosis indicating Holmes heart. She also had a mild distal aortic arch obstruction. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of the brain and neck were normal, as was ophthalmologic examination.At age 4 months, she underwent a bidirectional Glenn procedure with division of the main pulmonary artery, coarctation resection, and atrial septectomy, followed by Fontan completion at age 2 years.Her hemangioma did not proliferate, so medical therapy was not initiated. She underwent eight pulsed dye laser treatments, with marked improvement.F I G U R E 1 Telangiectatic patch within an area of pallor involving the left temple, cheek, ear, and postauricular area (Patient 1)