# Septal Defects: Unveiling Sex-Based Disparities and Screening Challenges for Timely Intervention Through a Case Report and Systematic Literature Review

## TL;DR

This paper highlights sex-based disparities in diagnosing and treating a rare heart defect, showing how delayed diagnosis in women can lead to severe complications.

## Contribution

The paper presents the first comprehensive review of adult SVASD case reports and identifies sex-based differences in complications.

## Key findings

- Undiagnosed ASDs in women over 40 often lead to severe complications like Eisenmenger syndrome.
- A case study shows delayed diagnosis of SVASD in a female patient led to irreversible complications.
- The review reveals sex-based disparities in the progression and outcomes of SVASD.

## Abstract

Atrial septal defects (ASDs), comprising a significant portion of congenital cardiac anomalies, encompass a rarer and more diagnostically challenging subset known as sinus venosus ASDs (SVASDs). ASDs are more prevalent in females, and the prognosis for patients under 40 years of age is generally favorable with advancements in surgical and transcatheter interventions. However, undiagnosed ASDs in adults above 40 years old, especially females, often lead to severe complications, including pulmonary hypertension, atrial fibrillation, Eisenmenger syndrome, and a mortality rate exceeding 50%. Our detailed case study focuses on an obese 42-year-old Hispanic migrant female with chronic respiratory failure misattributed to pulmonary hypertension, resulting in the progression of complications from undiagnosed SVASD. Further investigation using contrast-enhanced transesophageal echocardiography (TEE) elucidated the correct diagnosis four years after her initial presentation. This report explores the potential factors contributing to the patient’s delayed diagnosis and development of advanced cardiac complications of pulmonary hypertension leading to Eisenmenger syndrome that precluded her from procedural intervention. Furthermore, this report pioneers the first thorough review of case reports in adults newly diagnosed with SVASD, revealing sex-based differences in complications.