Related Experiment Video
Updated: May 30, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
Published on: May 5, 2018
[Diagnosis of congenital heart diseases]
M Massin1, S Malekzadeh-Milani, H Dessy
1Unité de Cardiologie pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola, ULB.
Insights
Early diagnosis of congenital heart defects (CHDs) is crucial. This review highlights how thorough patient history and physical exams can identify CHDs missed during initial screenings, improving outcomes for affected children.
Area of Science:
- Cardiology
- Pediatrics
- Medical Diagnostics
Context:
- Congenital heart defects (CHDs) are often detected via neonatal or fetal screening.
- A significant number of CHDs are missed during early screening.
- Delayed diagnosis of CHDs negatively impacts patient outcomes.
Purpose:
- To emphasize the critical role of patient history and physical examination in the early detection of CHDs.
- To review clinical findings that should prompt suspicion of CHDs.
- To advocate for improved diagnostic strategies beyond initial screenings.
Summary:
- While neonatal and fetal screenings detect many CHDs, a substantial portion are diagnosed later in childhood or adulthood.
- Missed early diagnoses of CHDs can lead to poorer health outcomes.
- Subtle cardiac findings present in patients are often overlooked, delaying diagnosis.
Impact:
- Enhancing the diagnostic yield of history and physical examination can lead to earlier identification of CHDs.
- Timely diagnosis and intervention can significantly improve the prognosis for children with congenital heart disease.
- This review underscores the importance of clinical acumen in pediatric cardiology for preventing long-term complications.
Abstract:
Most of the relevant congenital heart defects are recognized by the neonatal clinical screening or even in utero by fetal echocardiographic screening. Nevertheless, a substantial percentage of defects are missed in the early screening and are diagnosed after discharge from hospital during childhood or even during adulthood. Often, this delay in making the correct diagnosis affects the overall outcome of the cardiac children. In almost all patients, cardiac findings are present that should have alerted the physician. This article reviews the importance of history and physical examination in the early diagnosis of congenital heart disease.
Related Concept Videos
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
Mitral Stenosis II: Clinical features and Diagnostic Tests
Imaging Studies for Cardiovascular System III: X-Ray
Definition and Purpose
An X-ray, or radiograph, is a non-invasive method that uses ionizing radiation to take images of internal structures. It is mainly used in cardiac imaging to examine the heart, lungs, and major blood vessels, aiming to identify abnormalities in the heart's size, shape, and position, such as heart failure, congenital defects, and vascular...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Heart Failure IV: Classification and Diagnostic Evaluation
Cardiomyopathy II: Dilated Cardiomyopathy

