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Ivemark's "asplenia" syndrome: a single gene disorder
R H McChane1, J H Hersh, L J Russell
1Department of Pediatrics, University of Louisville School of Medicine, Ky.
Insights
Congenital heart defects (CHDs) are often multifactorial, but some result from single gene defects. This study supports autosomal recessive inheritance for Ivemark's syndrome, crucial for genetic counseling.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Developmental Biology
Background:
- Congenital heart defects (CHDs) are common birth defects, with most having multifactorial causes.
- A subset of CHDs arises from single gene defects, increasing recurrence risk in families.
- Ivemark's syndrome, characterized by asplenia and congenital heart disease, is rare.
Observation:
- The study presents three male siblings diagnosed with Ivemark's syndrome.
- Clinical presentation and family history suggest a specific genetic etiology.
- Detailed case analysis was performed.
Findings:
- The observed pattern of inheritance in these siblings supports an autosomal recessive mode for Ivemark's syndrome.
- This finding refines the understanding of the genetic basis of this specific CHD complex.
- Identification of a Mendelian pattern is key.
Implications:
- Early recognition of Mendelian disorders associated with CHDs is vital.
- Accurate genetic diagnosis enables precise prognosis and medical management strategies.
- Understanding the inheritance pattern is essential for genetic counseling and recurrence risk assessment.
Abstract:
Congenital heart defects as a group represent a significant proportion of congenital malformations. Most are isolated and multifactorially determined; a relatively small proportion are due to a single gene defect, and result in an increased risk of recurrence among first-degree relatives. We have reported the cases of three male siblings with Ivemark's "asplenia" syndrome to support an autosomal recessive mode of inheritance. We have stressed the importance of early recognition of mendelian disorders with associated cardiac malformations to provide meaningful counseling regarding prognosis, medical management, and risk of recurrence.