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Unusual long survival in a case of heterotaxy and polysplenia
Kevin Doello1,2, Veronica Conde1, Maria C Perez3
1Medical Oncology Service, Virgen de las Nieves Hospital, 18014, Granada, Spain.
Insights
This case study highlights a rare heterotaxy syndrome with polysplenia in a 59-year-old woman diagnosed with breast cancer. It details unusual vascular anomalies and atrial septal defect, contributing to pulmonary hypertension.
Area of Science:
- Medicine
- Radiology
- Genetics
Background:
- Heterotaxy syndrome with polysplenia is a rare congenital disorder affecting organ arrangement.
- It is associated with significant early-life mortality.
- Co-occurrence with other conditions like cancer is infrequently reported.
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.
