A rare case of familial Situs inversus totalis with congenital heart disease in siblings: case report

Abstract Background : Situs inversus totalis is a rare congenital anomaly characterized by complete thoracoabdominal organ inversion. Aristotle recognized this anomaly in animals, while Fabricius described the first case in human beings. The exact etiology is unknown; however, autosomal recessive and X-linked inheritance are supported by evidence. Patients with this anomaly are usually asymptomatic. There are also rare reports of congenital heart disease associated with this anomaly. Here we report two siblings having dextrocardia with complete situs inversus associated with congenital heart disease (ventricular septal defect), with emphasis on the clinical presentation, and there is a need for family screening. First case: A 2 year and 5-month-old male child presented with interruption and diaphoresis during feeding of two weeks duration at the age of 1 year and 3 months. In association with this, he also had a low-grade intermittent fever and cough of the same duration. The patient had no significant past medical and surgical history. There was no family history of similar complaints. On physical examination, the apex of the heart was on the right with a holosystolic murmur best heard over the right lower sternal border. Chest x-ray, echocardiography, and abdominopelvic ultrasound showed situs inversus totalis. The patient was managed for heart failure and showed significant improvement in the respiratory and cardiac manifestations. Second case: A 1-year and 8-month-old male sibling of the first case presented with cough and tachypnea (fast breathing) that began at one month of age. This was associated with interrupted breastfeeding and a low-grade fever. He was treated multiple times at a nearby hospital, but there was no improvement. During his first visit to our facility at the age of 6 months, he presented with a two-week history of cough, tachypnea, and low-grade intermittent fever, occurring almost every month. The patient had no significant past surgical history. On physical examination, the Apex of the heart was on the right with a holosystolic murmur best heard over the right lower sternal border. Chest x-ray, echocardiography, and abdominopelvic ultrasound showed situs inversus totalis. The patient was admitted and managed for heart failure precipitated by pneumonia and discharged with improvement. On follow-up, the patient grew well with increments in all anthropometric measurements. Conclusion Dextrocardia could run in families, but the exact cause is not completely understood. Most SIT patients are diagnosed incidentally, and all family members should be evaluated to ensure the diagnosis is not missed, especially during emergency, critical care, and surgical procedures. Clinical trial number: not applicable