Unusual long survival in a case of heterotaxy and polysplenia
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Unusual long survival in a case of heterotaxy and polysplenia Kevin Doello1,2 · Veronica Conde1 · Maria C. Perez3 · Inmaculada Mendoza3 · Cristina Mesas2,4,5 · José Prados2,4,5 Received: 11 April 2020 / Accepted: 18 September 2020 © Springer-Verlag France SAS, part of Springer Nature 2020
Abstract Heterotaxy syndrome with polysplenia is an extremely rare congenital disorder caused by a disruption in the embryonic development that results in an abnormal arrangement of the abdominal and thoracic organs. We present the case of a 59-year-old female patient with invasive ductal carcinoma of the right breast (luminal A type) and CT findings of heterotaxy syndrome with polysplenia. The most remarkable anomalies identified were a left inferior vena cava draining into the hemiazygos vein, absent inferior vena cava at the thoracic level, and hepatic veins directly draining into the right atrium. Moreover, an atrial septal defect was identified, explaining the pulmonary hypertension of unknown cause previously detected in the patient. The relevance of this case lies in the unusual anatomical abnormalities found and the large patient survival, having in to account the great rate of heterotaxy syndrome mortality in the first years of life. Keywords Heterotaxy · Polysplenia · Breast cancer · Case report · Abnormal inferior vena cava · Atrial septal defect Abbreviations Body-CT Body-Computed Tomography IVC Inferior vena cava. ASD Atrial septal defect
Background Visceral heterotaxy is thought to arise from disturbances in the embryonic development, not fully understood; that result in disruption of the normal left–right asymmetry. Among the spectrum of heterotaxy syndromes, left isomerism is characterized by the presence of polysplenia, bilateral bilobed lungs and cardiac malformations. Association with cardiac * José Prados [email protected] 1
Medical Oncology Service, Virgen de las Nieves Hospital, 18014 Granada, Spain
2
Institute of Biopathologyand Regenerative Medicine (IBIMER), Center of Biomedical Research (CIBM), University of Granada, 18100 Granada, Spain
3
Radiological Service, Virgen de las Nieves Hospital, 18014 Granada, Spain
4
Department of Anatomy and Embryology, Faculty of Medicine, University of Granada, 18071 Granada, Spain
5
Instituto Biosanitario de Granada (Ibs. GRANADA), 18014 Granada, Spain
malformations is common, and visceral heterotaxy is generally detected as an incidental finding in the screening of children with complex congenital heart disease [17]. Different investigations have reported that heterotaxy may be present in up to 30% of children with malposition of the heart [9]. In addition to cardiac malformations, anomalies of the gastrointestinal tract associated with heterotaxy syndrome include malrotation, malposition and malfixation of the abdominal organs, including hiatal hernia as pointed out by Hsu et al. [7]. A limited number of case series with adult patients are available because, in many cases, the associated complications prevent patients from r
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