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Published on: May 21, 2017
Familial discrete subaortic stenosis
A A Petsas1, L C Anastassiades, E C Constantinou
1Cardiovascular Diagnostic Center, Nicosia, Cyprus.
Clinical Cardiology
|February 25, 1998
Summary
Discrete subaortic stenosis (DSS), a congenital heart defect, occurred in four family members. This familial clustering suggests a potential autosomal dominant inheritance pattern for this left ventricular outflow tract obstruction.
Area of Science:
- Cardiology
- Genetics
- Pediatric Medicine
Background:
- Discrete subaortic stenosis (DSS) is a significant cause of congenital left ventricular outflow tract obstruction, accounting for 8-20% of cases.
- While rare, familial occurrences of left ventricular obstructive lesions have been sporadically reported.
- Understanding the genetic basis of DSS is crucial for early diagnosis and management.
Observation:
- This report details a family with four affected members diagnosed with DSS.
- The affected individuals presented with either a fibrous ring or a fibrous membrane, characteristic of DSS.
- The family structure included affected siblings and a nephew, indicating potential hereditary transmission.
Findings:
- The presence of multiple DSS cases within a single family strongly suggests a genetic link.
- The pattern observed in this family is consistent with an autosomal dominant mode of inheritance.
- This finding highlights the importance of family history in diagnosing congenital heart defects.
Implications:
- Early genetic screening and counseling may be beneficial for families with a history of DSS.
- Further research into the specific genes and mutations responsible for DSS is warranted.
- Recognizing the hereditary nature of DSS can improve risk assessment and preventative strategies for affected families.
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