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[Autosomal dominant hereditary atrial septal defect with heart conduction defects and mitral valve insufficiency]
Zeitschrift Fur Kardiologie
|July 1, 1976
Insights
This study describes an inherited autosomal dominant atrial septal defect (ASD) linked to heart conduction problems in a single family across four generations. The findings highlight a genetic link between ASD and cardiac conduction abnormalities.
Area of Science:
- Cardiology
- Genetics
- Clinical Medicine
Context:
- Describes a rare inherited cardiac condition within a family.
- Focuses on atrial septal defect (ASD) with associated conduction abnormalities.
- Investigates a condition spanning four generations.
Purpose:
- To document and characterize an autosomal dominant inherited atrial septal defect (ASD).
- To analyze the clinical presentation and electrocardiographic findings in affected family members.
- To identify potential congenital mitral insufficiency in conjunction with ASD.
Summary:
- A family with an autosomal dominant inherited atrial septal defect (ASD) was studied, with 6 members across 4 generations affected.
- Clinical diagnosis was made in 4 patients, while 2 sisters had the diagnosis confirmed surgically.
- Two patients presented with probable congenital mitral insufficiency, and ECG revealed AV and bundle branch blocks in 4 individuals.
Impact:
- Provides insight into the genetic basis and inheritance patterns of ASD with conduction defects.
- Contributes to the understanding of familial cardiac conditions.
- May inform genetic counseling and clinical management strategies for affected families.
Abstract:
An autosomal dominant inherited ASD with conduction defects in one family is described. 6 members of 4 generations were fallen ill. In 4 patients the diagnosis was made clinically, in 2 sisters the diagnosis was confirmed by operation. Moreover, the last 2 patients had a mitral insufficiency--probably congenital. The ecg-findings of 4 patients additionally showed conduction defects in form of AV-and bundle branch blocks.