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Paediatric radiology
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Ashok Raghavan, Kshitij Mankad, Jeremy B Jones, Neetu Kumar
Pentalogy of Cantrell is a very rare complex that consists of omphalocele, congenital diaphragmatic hernia, sternal cleft, ectopia cordis and congenital heart disease. Ectopia cordis describes the malposition of the heart, usually through a central thoracic defect.
Congenital thoracic deformities
Published in Prem Puri, Newborn Surgery, 2017
Konstantinos Papadakis, Robert C. Shamberger
Thoracic ectopia cordis includes infants with an entirely bare heart that is outside the thorax, with cephalic orientation of the cardiac apex. It protrudes through a central sternal cleft and lacks a parietal pericardium and overlying skin. This condition may be associated with a separate epigastric omphalocele or upper abdominal wall defect. Thoracic ectopia cordis must be distinguished from cleft sternum, in which the heart is covered by normal skin in an orthotopic intrathoracic position and is anatomically normal.
Trisomy 18 in a First-Trimester Fetus with Thoraco-Abdominal Ectopia Cordis
Published in Fetal and Pediatric Pathology, 2020
Ricardo Diaz-Serani, Waldo Sepulveda
Ectopia cordis is a congenital anomaly characterized by complete or partial displacement of the heart outside the thoracic cavity, usually through a sternal defect, occurring with a reported frequency of 5–8 per 1,000,000 births [1]. Depending on its location, ectopia cordis is classified into five types: cervical, cervico-thoracic, thoracic, thoraco-abdominal, and abdominal [2]. Embryologically, this malformation is caused by an abnormal infolding process that normally takes place during the fifth week of development, ultimately affecting the fusion of the sternum [3]. Although its etiology seems to be multifactorial, a small yet significant number of cases are associated with chromosomal abnormalities [4]. Among these, the most common is trisomy 18 [5–11], suggesting a predisposition of this chromosomal abnormality to target structures of the midline [4].
PHACES syndrome with ectopia cordis and hemihypertrophy
Published in Baylor University Medical Center Proceedings, 2019
Jad Chokr, Bedros Taslakian, Gilbert Maroun, Gagandeep Choudhary
The association of hemihypertrophy with PHACES syndrome has not been previously reported. Hemihypertrophy, more accurately referred to as hemihyperplasia, is a rare overgrowth disorder of unknown etiology that is characterized by enlargement of part or all of one side of the body. It can be sporadic or in association with other syndromes like Beckwith-Wiedemann syndrome, Proteus syndrome, Klippel-Trenaunay syndrome, Russell-Silver syndrome, and neurofibromatosis type 1.8 Several reports showed an increased risk of neoplasms in overgrowth disorders, in particular embryonal tumors, which warrants close follow-up with serum markers and imaging.9,10 Likewise, ectopia cordis can be seen either in isolation or in association with syndromes, such as the pentalogy of Cantrell.11 Those can be differentiated by clinical criteria and imaging findings.
Ectopia Cordis: 6-Year Survival without Surgical Correction
Published in Fetal and Pediatric Pathology, 2021
Ectopia cordis (EC) is an uncommon innate cardiovascular defect characterized by deformities in the anterior chest and abdominal walls with an anomalous arrangement of the heart, either completely or partially located outside of the thoracic cavity with related defects in the parietal pericardium diaphragm, sternum, and frequently cardiac malformations [1]. The first documented EC case was 5000 years ago and the term “ectopia cordis” was first portrayed by Haller et al. in 1706 [2]. It is commonly a sporadic deformity or is associated with chromosomal anomalies such as trisomy 18, Turner syndrome, and 17q+. The prevalence is between 5.5 and 7.9/million live births [3–5]. In this report we describe a case of 6-year-old child with uncorrected EC.