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[Recessive autosomal inheritance in Marfan syndrome]
M C Alvarez-Arratia1, A Muñoz, S Martínez Camacho
1Hospital para el niño DIF Estado de México.
Archivos Del Instituto De Cardiologia De Mexico
|July 1, 1992
Summary
This study investigated three siblings with early-onset Marfan syndrome, characterized by aortic aneurysms and musculoskeletal issues. The findings suggest a potential recessive autosomal inheritance pattern, differing from the typical dominant form.
Area of Science:
- Genetics and rare diseases
- Cardiovascular and ophthalmologic conditions
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue, typically inherited in an autosomal dominant pattern.
- Clinical manifestations include skeletal, ocular, and cardiovascular abnormalities, often with variable expressivity and age of onset.
Observation:
- Three siblings presented with early-onset Marfan syndrome, diagnosed via physical and ophthalmologic examinations.
- Key features included musculoskeletal abnormalities, lens subluxation, myopia, and aortic aneurysms.
- All three siblings experienced fatal complications from aortic aneurysms.
Findings:
- The affected siblings exhibited early onset of Marfan syndrome manifestations.
- Absence of affected parents or grandparents, coupled with the observed clinical features, challenges the typical autosomal dominant inheritance model.
- The study proposes a potential recessive autosomal inheritance pattern for Marfan syndrome in this family.
Implications:
- This case series may indicate a rare recessive form of Marfan syndrome, necessitating further genetic investigation.
- Understanding alternative inheritance patterns is crucial for accurate genetic counseling and risk assessment in families with Marfan syndrome.
- Early identification and monitoring of aortic complications are vital, especially in cases with atypical inheritance patterns.