Related Experiment Video
Updated: Aug 6, 2026
07:34
Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
Published on: May 5, 2018
Upper limb malformations associated with congenital heart disease
The American Journal of Cardiology
|June 1, 1985
Summary
Recognizing upper limb malformations in congenital heart disease patients is crucial. This helps identify cardiac issues, guide interventions, and improve prognosis and genetic counseling for these common skeletal abnormalities.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Skeletal Dysplasias
Background:
- Upper limb malformations frequently co-occur with congenital heart disease (CHD).
- These associations can be multifactorial, chromosomal, or teratogenic, appearing as predictable or sporadic patterns.
- Cardiac and limb defects may be primary syndrome features or incidental findings.
Purpose of the Study:
- To propose a practical classification for upper limb and cardiac malformations.
- To highlight the significance of recognizing upper limb abnormalities in CHD patients.
- To aid in diagnostic and therapeutic decision-making, prognosis, and genetic counseling.
Main Methods:
- Review and classification of upper limb and cardiac defect associations.
- Analysis of defect frequency and consistency.
- Clinical correlation of malformation patterns.
Main Results:
- Upper limb malformations are the most common skeletal abnormalities in CHD.
- A classification system based on association frequency and consistency is proposed.
- Understanding concordance rates, including low concordance defects, is important.
Conclusions:
- Early recognition of upper limb malformations aids in identifying associated cardiac disease.
- This recognition is vital for appropriate diagnostic and therapeutic interventions.
- Accurate assessment improves prognosis and facilitates genetic counseling in patients with CHD and limb defects.
Related Concept Videos
01:09Changes in the Appendicular Skeleton with Age
The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
01:12Arteries of the Upper Limbs
The subclavian artery transitions into the axillary artery as it exits the chest and enters the axillary region. This artery is critical for supplying blood to the shoulder area, including the head of the humerus, through the humeral circumflex arteries. As the vessel continues into the upper arm or brachium, it becomes the brachial artery. This artery plays a key role in vascularizing the brachial region and bifurcates at the elbow into several branches. These branches include the deep...
01:29Cardiovascular System Abnormal Findings I: Inspection and Palpation
In a cardiovascular examination, inspection and palpation are crucial for identifying abnormalities.
Abnormal findings observed during an inspection
Abnormal findings observed during an inspection
01:25Cardiovascular System Abnormal Findings II: Auscultation
Auscultation, an essential part of a heart examination, is done using a stethoscope. It provides crucial information about heart function and possible heart problems. Due to heart problems, abnormal sounds can be heard during systole or diastole. These sounds include S3 and S4 gallops, opening snaps, systolic clicks, and murmurs.
Abnormal Heart Sounds
Gallops:
Abnormal Heart Sounds
Gallops:
01:23Rheumatic Heart Disease I: Introduction
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...