Heart with fenestrations symbolizing hidden complexities.

Unmasking Hidden Heart Defects: Why a Second Look Can Save Lives

Samir D’Costa in Health & Wellness December 2025 • 4 min read.

"A case study highlights the importance of thorough cardiac imaging in diagnosing fenestrated atrial septal defects, preventing complications from incomplete closure."

Atrial septal defects (ASDs), or holes in the heart's wall between the two upper chambers, can range in complexity. While some are straightforward to diagnose and treat, others, particularly fenestrated ASDs—those with multiple small openings—present a significant challenge. Often missed during initial assessments, these defects can lead to incomplete closure and persistent symptoms if not properly identified.

A recent case involving a 22-year-old woman underscores the importance of thorough investigation and advanced imaging techniques in diagnosing and managing complex ASDs. Her journey from initial diagnosis to successful surgical correction sheds light on the potential pitfalls of relying on limited diagnostic information.

Initially diagnosed with a simple ASD, she experienced ongoing chest pain and shortness of breath despite a percutaneous closure attempt. This article will explore how advanced imaging revealed the presence of multiple fenestrations, ultimately leading to the patient's successful surgical outcome and highlighting crucial lessons for clinicians.

The Case of the Missed Fenestrations: A Diagnostic Puzzle

Heart with fenestrations symbolizing hidden complexities.

The patient, already diagnosed with ASD, presented with worsening chest pain and dyspnea. An initial transthoracic echocardiogram indicated a dilated right ventricle and a right-to-left shunt, leading to a planned percutaneous closure with an Amplatzer device. However, a post-procedure echocardiogram revealed multiple additional defects and residual flow across the interatrial septum.

This unexpected finding prompted the removal of the closure device and a referral for surgical intervention. To better characterize the defect, a phase-contrast magnetic resonance imaging (MRI) was performed, revealing a large ASD with multiple small fenestrations along the inferior aspect.

Initial Presentation: Symptoms of chest pain and dyspnea despite prior ASD diagnosis.
Initial Echocardiogram: Showed right ventricle dilation and right-to-left shunt.
Failed Percutaneous Closure: Post-procedure imaging revealed multiple residual defects.
MRI Findings: Confirmed a large ASD with multiple fenestrations.

Surgical intervention confirmed the presence of multiple fenestrations, which were surgically removed, and the resulting defect was closed using bovine pericardium. Post-surgery, the patient reported improvement in her dyspnea, although chest pain persisted, indicating the complex nature of managing such conditions.

The Importance of Comprehensive Cardiac Imaging

This case underscores the critical importance of comprehensive cardiac imaging in diagnosing complex ASDs, particularly fenestrated defects. While 2-dimensional echocardiography is a valuable tool, it has limitations in detecting multiple fenestrations due to its single-plane imaging.

The American Society of Echocardiography recommends 3-dimensional transesophageal echocardiography for all adult patients being evaluated for percutaneous transcatheter closure or surgical therapy. This technique provides an en face view of the ASD, improving the detection of additional fenestrations.

In conclusion, this case serves as a reminder that a thorough diagnostic approach, incorporating advanced imaging modalities, is essential for accurate diagnosis and effective management of complex congenital heart defects. This leads to better patient outcomes and reduces the need for repeat interventions.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.1161/circimaging.118.007192, Alternate LINK

Title: Case Of Delayed Diagnosis Of Fenestrated Atrial Septal Defect

Subject: Cardiology and Cardiovascular Medicine

Journal: Circulation: Cardiovascular Imaging

Publisher: Ovid Technologies (Wolters Kluwer Health)

Authors: Todd Looney, Gregory R. Czaja, Michael Casey Flanagan, Junewai L. Reoma, Edward Hulten

Published: 2018-10-01

Everything You Need To Know

What exactly is a fenestrated Atrial Septal Defect, and why is it harder to diagnose?

A fenestrated Atrial Septal Defect refers to an Atrial Septal Defect that has multiple small openings instead of just one. These multiple openings can make them more difficult to detect and completely close during initial treatments, potentially leading to persistent symptoms and the need for further intervention.

Why can't a standard Echocardiogram always detect a fenestrated Atrial Septal Defect?

While an initial Transthoracic Echocardiogram is useful, it may not always be sufficient for detecting fenestrated Atrial Septal Defects. Due to the limitations of single-plane imaging, multiple small fenestrations can be missed. Advanced imaging techniques like phase-contrast Magnetic Resonance Imaging are often necessary to fully characterize the defect and ensure accurate diagnosis.

In the described case, how did doctors discover the initial Atrial Septal Defect closure was incomplete?

In the described case, the patient initially underwent a percutaneous closure using an Amplatzer device after an initial Echocardiogram suggested a simple Atrial Septal Defect. However, post-procedure imaging revealed multiple additional defects, indicating the presence of a fenestrated Atrial Septal Defect that was not initially detected. This led to the removal of the device and a referral for surgical intervention.

What happens if a fenestrated Atrial Septal Defect isn't correctly identified and fully treated?

If a fenestrated Atrial Septal Defect is not properly identified and treated, it can lead to incomplete closure of the defect. This can result in persistent symptoms like chest pain and dyspnea (shortness of breath), as well as potential complications related to blood flow abnormalities. In such cases, further interventions, such as surgical repair, may be necessary to fully correct the defect.

What was the outcome for the patient after surgical correction of the fenestrated Atrial Septal Defect, and were all symptoms resolved?

After the surgical removal of fenestrations and closure of the Atrial Septal Defect using bovine pericardium, the patient reported an improvement in dyspnea. However, chest pain persisted, highlighting the complex nature of managing such conditions. This suggests that while the structural defect was corrected, other factors might be contributing to the ongoing chest pain, requiring further evaluation and management.