Related Experiment Videos
Severe perinatal Marfan syndrome
D M Gross1, L K Robinson, L T Smith
1University of Texas Medical School, Houston 77225.
Insights
Severe perinatal Marfan syndrome presents significant cardiovascular challenges, often leading to limited life expectancy in infants. Early diagnosis and management are crucial for affected children.
Area of Science:
- Medical Genetics
- Cardiology
- Pediatrics
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue.
- Cardiovascular complications are well-documented in older individuals with Marfan syndrome.
- Severe perinatal Marfan syndrome requires specific clinical attention.
Observation:
- Presents clinical, radiographic, and echocardiographic data from three perinatal Marfan syndrome patients.
- Two patients diagnosed at birth died in infancy.
- One patient diagnosed at six months survived to three years.
Findings:
- Severe perinatal Marfan syndrome is associated with significant cardiorespiratory issues.
- Early-onset severe symptoms correlate with a poorer prognosis and limited life expectancy.
- Explores potential links between Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta.
Implications:
- Highlights the critical need for early diagnosis and intervention in severe perinatal Marfan syndrome.
- Suggests that early cardiovascular and respiratory support may influence long-term outcomes.
- Underscores the importance of distinguishing and understanding overlapping connective tissue disorders.
Abstract:
The cardiovascular manifestations of the Marfan syndrome in older children and adults have been well described. Clinical, radiographic, and echocardiographic data regarding three patients with severe perinatal Marfan syndrome are described. Two of these patients had the syndrome at birth and died in infancy. The syndrome was diagnosed in the third patient at 6 months of age and the child is still alive at 3 years of age. The possible relationship among the Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta is considered. Patients with Marfan syndrome and severe cardiorespiratory problems early in life tend to have a limited life expectancy.