Epidemiological, etiological, and clinical management perspectives of Cantrell's pentalogy

Abstract

Objective: To address Cantrell's Pentalogy (CP), a rare congenital syndrome described by James R. Cantrell in 1958, characterized by five midline anomalies. Literature review: The estimated incidence is 5.5 per 1 million live births, with a predominantly male prevalence. The etiology is multifactorial, involving genetic and environmental factors. Prenatal diagnosis is challenging, with 2D/3D ultrasound, fetal magnetic resonance imaging, and echocardiography indicated. The classification of CP varies from complete to incomplete, with a proposed Cantrell Hexalogy expanding the approach. Treatment is palliative, varying according to severity. Mortality is significant, especially in severe cases with ectopia cordis. Prenatal care is essential for early detection, enabling specialized support, surgical planning, and family assistance. Cases of CP in twin pregnancies are rare, emphasizing the need for additional studies. Final considerations: High-quality prenatal diagnosis, preferably using 2D ultrasound, is crucial, especially in cases with ectopia cordis and omphalocele. Other exams, such as Doppler, 3D ultrasound, MRI, fetal echocardiography, and embryofetoscopy, contribute to diagnostic confirmation. Treatments are predominantly palliative. The scarcity and variability of reported cases warrant further studies to enhance the disease's clinical approach and prognosis.