Holt-Oram Sendromlu Hastada Primum Tip Atriyal Septal Defekt ve Patent Foramen Ovale Birlikteli?i

摘要

A 49-year-old woman with dwarfism reported signs of shortness of breath. A physicalexamination of the patient revealed congenital deformities in the hands and feet (Figure1). Radiographs showed that the extremities of both her hands had metatarsal polydactyly;moreover, with her feet seem to have epiphyseal dysplasia and polysyndactyly were determined(Figure 2). Telecardiography showed cardiomegaly, and electrocardiography showed rightaxial deviation and right ventricular hypertrophy. Transthoracic echocardiography revealedprimum-type atrial septal defect in the interatrial septum, dilatation of the right heart cavities,and myxomatous mitral valves (Figure 3A). Transesophageal echocardiography showed a2.5 cm-wide, primum-type atrial septal defect and a wide patent foramen ovale (Figure 3B).A pulmonary arterial pressure of 47/14 (average: 28) mmHg, a systemic blood flow (QS)/pulmonary blood flow (QP) of 2.88, and a PVR of 2.15 Wood units were measured in cardiaccatheterization. The patient with skeletal dysplasia and congenital cardiac defect was diagnosedwith Holt-Oram syndrome and was referred for surgery. After median sternotomy, rightatriotomy was performed by cardiopulmonary bypass under moderate hypothermia using theaortic-bicaval cannulation technique; the primum-type atrial septal defect was repaired usingthe pericardial patch, and the patent foramen was primarily repaired. The patient did not haveany postoperative problems and was discharged on the 5th day.