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A strange complex of diffuse congenital cardiovascular disease and cardiomyopathy, with localised myocardial
1Department of Paediatric Cardiac Morphology, The Royal Brompton Hospital, Imperial College School of Medicine, London, UK.
Insights
A rare congenital heart disease complex, initially asymptomatic, led to progressive cardiac failure and death in a 45-year-old man. Autopsy revealed abnormal myocardial structure and valve regurgitation, a previously undescribed condition.
Area of Science:
- Cardiology
- Pathology
- Genetics
Background:
- Congenital heart defects can present with varied clinical courses.
- Spontaneous closure of septal defects and arterial ducts are known phenomena.
- Aortic coarctation requires careful monitoring for long-term sequelae.
Observation:
- A patient presented with a history of spontaneous ventricular septal defect closure, patent arterial duct, and mild aortic coarctation.
- Despite initial asymptomatic presentation, the patient developed progressive cardiac failure later in life.
- Necropsy revealed significant abnormalities in ventricular myocardial architecture, including absent papillary muscles.
Findings:
- The patient exhibited severe tricuspid and mitral regurgitation due to absent papillary muscles.
- Histopathological examination showed a grossly abnormal arrangement of ventricular myocardial fascicles and bands.
- These findings represent a unique and previously undescribed diffuse congenital cardiovascular disease complex.
Implications:
- This case highlights the potential for severe, late-onset cardiac dysfunction from complex congenital heart malformations.
- Understanding such rare conditions is crucial for accurate diagnosis and management of congenital cardiomyopathies.
- Further research into the genetic and developmental basis of such diffuse cardiovascular diseases is warranted.
Abstract:
This unique case is of a man, followed clinically since infancy, who had a ventricular septal defect which closed spontaneously, a small arterial duct, and a minor degree of aortic coarctation, all without obvious symptoms. He later developed progressive cardiac failure which was attributed to some obscure form of congenital cardiomyopathy. He died at the age of 45 years. Necropsy showed a grossly abnormal arrangement of ventricular myocardial fascicles and bands, with absence of the papillary muscles causing tricuspid and mitral regurgitation. The various malformations are considered to be a gross example of a diffuse congenital cardiovascular disease complex, to the best of our knowledge previously undescribed.