Two different pentalogies in an adult patient: a pentalogy of Cantrell associated with a pentalogy of Fallot
Makaleler > Tam Makale · 2012
Yazarlar: K TULUCE, Cemil GÜRGÜN, Oğuz YAVUZGİL, Naim CEYLAN, SY TULUCE
European Heart Journal - Cardiovascular Imaging, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2012, cilt 13, ss 878-879
DOI: 10.1093/ehjci/jes076
Özet
Pentalogy of Cantrell is a rare syndrome characterized by defects involving the abdominal wall, lower sternum, diaphragm, pericardium, as well as congenital cardiac anomalies. Tetralogy of Fallot is a cardiac anomaly consisting of a ventricular septal defect (VSD), dextroposition of the aorta, obstruction to the pulmonary blood flow, and right ventricular (RV) hypertrophy. Addition of atrial septal defect (ASD) to these anomalies is called pentalogy of Fallot (POF). A 33-year-old woman presented with effort intolerance. She had a history of cardiac surgery 26 years ago. No repair procedures could be performed because of the complex cardiac anomalies detected unexpectedly. Cardiac auscultation revealed a systolic ejection murmur at the lower left sternal border and the apex. A pulsation simultaneous with pulse was visible in the substernal region. Clubbing and cyanosis were not detected. Transthoracic echocardiography showed an apical outpouching consistent with a left ventricular (LV) diverticulum (Figure 1A). POF, including a VSD with bidirectional shunt, an ASD, pulmonary stenosis, RV hypertrophy, and an overriding aorta, was also visualized. Coronary angiography demonstrated an anomalous origin of the LAD artery arising from the right aortic sinus (Figure 1B and C). Left ventriculography showed an LV diverticulum, a VSD, and a partial thoracoabdominal ectopia cordis (Supplementary data online, Video S1). Cardiac MR and thoracic CT showed the anatomical course and the focal bulging of the diverticulum under the skin (Supplementary data online, Video S2) in the substernal region due to the lack of xiphoid and the defects of anterior part of both the pericardium and the diaphragm (Figure 1D and E; Supplementary data online, Video S3). The presence of POF was also demonstrated (Figure 1F–H). The diagnosis of incomplete Cantrell's pentalogy was made with cardiac involvement in forms of POF, an LV diverticulum, and a coronary artery origin anomaly. Surgery was planned but the patient refused. She has been followed for 18 months without any events. Supplementary data are available at European Heart Journal – Cardiovascular Imaging online. Conflict of interest: None declared.