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Echocardiographic findings in endomyocardial fibrosis
1Department of Pediatric Cardiology, Hacettepe University Institute of Child Health, Ankara.
Insights
This case study presents the youngest infant diagnosed with endomyocardial fibrosis, a rare heart condition. Echocardiography proved crucial for diagnosing this pediatric cardiac disease, highlighting its utility in early detection.
Area of Science:
- Pediatric Cardiology
- Cardiovascular Imaging
- Rare Diseases
Background:
- Endomyocardial fibrosis (EMF) is a rare restrictive cardiomyopathy typically affecting older children and adults.
- Early diagnosis and understanding of EMF in infants are limited due to its rarity in this age group.
Observation:
- An 18-month-old infant presented with clinical signs suggestive of cardiac dysfunction.
- Echocardiography revealed characteristic findings of EMF, including left ventricular apical obliteration and endocardial/subendocardial echo alterations.
- Significant left atrial and right ventricular enlargement, along with notable tricuspid regurgitation, were observed.
Findings:
- The patient exhibited EMF at an unprecedentedly young age, making it the youngest reported case.
- Distinct from other reported EMF cases, this infant showed no atrioventricular valve thickening.
- Mitral valve insufficiency was attributed to restricted ventricular filling, not direct valve pathology.
Implications:
- Echocardiography is a highly recommended diagnostic tool for suspected cases of endomyocardial fibrosis in infants.
- This case expands the known age spectrum for endomyocardial fibrosis, emphasizing the need for vigilance in pediatric cardiac assessments.
- Understanding the specific pathophysiology in infants, such as mitral insufficiency due to impaired filling, is vital for appropriate management.
Abstract:
An 18-month-old infant diagnosed as having endomyocardial fibrosis by echocardiography is presented. Most patients with endomyocardial fibrosis reported in the literature are either older children or adults. To our knowledge, our patient was the youngest ever to have been reported. Echocardiographic studies showed obliteration of the left ventricular apex and increased echo reflectance at the left ventricular endocardium and subendocardium. The left atrium and right ventricle were significantly enlarged. Doppler echocardiography showed minimal mitral, but significant tricuspid regurgitation. In regard to the contribution of echocardiography in the diagnosis, we recommend this method for suspected cases. Contrary to the other patients reported, there was no thickening of the atrioventricular valves. Mitral valve insufficiency was related to the restriction of the ventricular filling rather than to valve involvement occurring with the disease.