Related Experiment Video
Updated: May 11, 2026
Murine Fetal Echocardiography
Published on: February 15, 2013
Screening of families of patients with left-sided cardiovascular anomalies
Fikri Demir1, Cem Karadeniz, Semra Atalay
1Pediatric Cardiology Unit, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey.
Insights
Left-sided cardiovascular anomalies (LSCA) and bicuspid aortic valve (BAV) often cluster in families. Echocardiographic screening of relatives is recommended, especially for BAV patients, due to observed LSCA prevalence.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Increasing evidence suggests familial clustering of cardiac anomalies.
- Bicuspid aortic valve (BAV) and other left-sided cardiovascular anomalies (LSCA) are of clinical significance.
- Understanding familial patterns of LSCA is crucial for early detection and management.
Purpose of the Study:
- To evaluate the frequency and echocardiographic features of LSCA among relatives of patients with BAV or other LSCA.
- To determine the incidence of BAV and other LSCA in families with affected probands.
- To assess the clinical significance of LSCA clustering within families.
Main Methods:
- Echocardiographic examination of 86 probands and 261 relatives.
- Classification of probands into BAV, BAV with coarctation of aorta (CoA), and other LSCA groups.
- Standardization of echocardiographic measurements using Z-scores.
Main Results:
- 17% of relatives exhibited LSCA, with 5% showing aortic dilatation and 1.5% having BAV.
- BAV incidence was 1.9% among relatives of BAV patients.
- A second LSCA affected individual was found in 12.8% of investigated families.
Conclusions:
- LSCA, including BAV, demonstrate familial clustering and clinical significance.
- Echocardiographic screening of relatives of LSCA patients is recommended.
- Screening should be prioritized for relatives of BAV patients if comprehensive screening is not feasible.
Background:
There is increasing evidence of clustering of certain cardiac anomalies in some families. The frequency and echocardiographic features of such anomalies among the relatives of patients with bicuspid aortic valve (BAV) or other left-sided cardiovascular anomalies (LSCA) were evaluated.
Methods:
The patients with BAV or any other LSCA and their relatives were enrolled in the study. They underwent an echocardiographic examination. The probands were assessed in three groups: BAV, BAV + coarctation of aorta (CoA), and other LSCA. Their relatives were also grouped and evaluated accordingly. The echocardiographic measurements were standardized by Z-scores.
Results:
Eighty-six probands and 261 relatives were evaluated. The numbers of the patients in the BAV, BAV + CoA, and other LSCA group were 52, 14, and 20, respectively. Any LSCA was determined in 17 (6.5%) of the relatives. Thirteen (5%) had aortic dilatation and the remainder (1.5%) had BAV. Accordingly, BAV incidence among relatives of patients with BAV was found to be 1.9%. A second individual with an LSCA was observed in 12.8% of 86 families investigated. The frequencies of aortic stenosis, aortic regurgitation, aortic stenosis + aortic regurgitation, and aortic dilatation in the patients with BAV were found to be 37.9%, 53%, 25.8% and 48.5%, respectively. In contrast to previous reports, no enlargement was observed in the pulmonary arteries of BAV patients.
Conclusions:
BAV and other LSCA are of clinical significance. Because the clustering of LSCA in some families is observed, we recommend echocardiographic screening of those relatives. If this is not possible, at least it should be achieved for BAV patients.
Related Concept Videos
01:20Imaging Studies for Cardiovascular System II:Types of Echocardiography
Types of Echocardiography
Transthoracic Echocardiography (TTE)
TTE is the most common type of echocardiogram which involves placing a transducer on the patient's chest, emitting sound waves to create heart images. TTE is invaluable for evaluating the heart's size, structure, and motion, making it particularly useful for diagnosing...
01:29Assessment of the Cardiovascular System II: Inspection
Head and Neck
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
01:24Cardiac Catheterization III: Left Heart Catheterization
01:20Imaging 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...
01:29Cardiovascular System Abnormal Findings I: Inspection and Palpation
Abnormal findings observed during an inspection