Speaker Credentials
OMS-IV
Speaker Credentials
BS
College
Dr. Kiran C. Patel College of Osteopathic Medicine, DO
Medical Specialty
Radiology
Format
Poster
Start Date
November 2024
End Date
November 2024
Track
1
Abstract
Introduction: Heterotaxy syndrome (HS), also referred to as situs ambiguous, is a rare congenital condition marked by the abnormal positioning and asymmetry of thoracoabdominal organs in relation to the body's midline. HS is categorized into two main types: left isomerism (polysplenia syndrome) and right isomerism (asplenia syndrome or Ivemark syndrome). Isomerism describes a condition where right- or left-sided structures appear bilaterally, such as the presence of bilateral trilobed lungs in right isomerism. Case Description: Herein we present the case of a 28-year-old female who presented to the Emergency Department complaining of abdominal pain. On CT, she was incidentally found to have situs ambiguous with evidence of left-sided isomerism, evidenced by a midline liver, right-sided polysplenia, right-sided stomach, azygous continuation of the inferior vena cava and right-sided sigmoid colon. Discussion: The clinical presentation of HS varies widely, often involving multiple organ systems and leading to significant morbidity and mortality, primarily influenced by the severity of cardiac defects. The one-year mortality rate exceeds 85% for patients with asplenia and 50% for those with polysplenia. Advances in imaging, such as CT scans, have improved the incidental detection of HS in asymptomatic individuals, highlighting the critical role of early diagnosis and multidisciplinary management in reducing the morbidity and mortality associated with this complex syndrome. While severe HS cases frequently result in early mortality, particularly in those with asplenia, some patients with mild-to-no cardiac defects can live relatively normal lives into adulthood with appropriate medical care.
Included in
An Unusual Case of Heterotaxy Syndrome
Introduction: Heterotaxy syndrome (HS), also referred to as situs ambiguous, is a rare congenital condition marked by the abnormal positioning and asymmetry of thoracoabdominal organs in relation to the body's midline. HS is categorized into two main types: left isomerism (polysplenia syndrome) and right isomerism (asplenia syndrome or Ivemark syndrome). Isomerism describes a condition where right- or left-sided structures appear bilaterally, such as the presence of bilateral trilobed lungs in right isomerism. Case Description: Herein we present the case of a 28-year-old female who presented to the Emergency Department complaining of abdominal pain. On CT, she was incidentally found to have situs ambiguous with evidence of left-sided isomerism, evidenced by a midline liver, right-sided polysplenia, right-sided stomach, azygous continuation of the inferior vena cava and right-sided sigmoid colon. Discussion: The clinical presentation of HS varies widely, often involving multiple organ systems and leading to significant morbidity and mortality, primarily influenced by the severity of cardiac defects. The one-year mortality rate exceeds 85% for patients with asplenia and 50% for those with polysplenia. Advances in imaging, such as CT scans, have improved the incidental detection of HS in asymptomatic individuals, highlighting the critical role of early diagnosis and multidisciplinary management in reducing the morbidity and mortality associated with this complex syndrome. While severe HS cases frequently result in early mortality, particularly in those with asplenia, some patients with mild-to-no cardiac defects can live relatively normal lives into adulthood with appropriate medical care.