Abstract:Dilated cardiomyopathy, heart failure and atrial septal defects are well-recognised entities in isolation, but are rarely seen together. Now that 90% of children with congenital heart disease survive into adulthood, such combinations of disease are increasingly seen in adult cardiology. While most young patients with dilated cardiomyopathy respond well to medical therapy, some do not, and require more invasive management. We describe a 32 year-old man with dilated cardiomyopathy and a sinus venosus-type atrial… Show more
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.
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.
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