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Trine Kiilerich Lauridsen1, Morten Krogh Christiansen2, Louise Bjerregaard Henningsen3
1Afdeling for Hjertesygdomme, Københavns Universitetshospital - Herlev og Gentofte Hospital.
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This review details the process for diagnosing inherited cardiovascular diseases in families. It covers diagnostic standards, inheritance patterns, and key warning signs for prompt identification.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Inherited cardiovascular diseases (ICDs) represent a significant health concern.
- Early diagnosis and management are crucial for affected individuals and families.
- Understanding genetic patterns is key to risk stratification.
Purpose of the Study:
- To outline the diagnostic workflow for suspected inherited cardiovascular diseases.
- To detail diagnostic criteria and inheritance patterns.
- To identify critical "red flags" for specific ICDs.
Main Methods:
- Review of current literature and clinical guidelines.
- Emphasis on the comprehensive evaluation of probands and relatives.
- Highlighting the role of specialized inherited cardiovascular disease clinics.
Main Results:
- Established workflow for patient and family evaluation.
- Defined diagnostic criteria and inheritance patterns (predominantly autosomal dominant).
- Identified key "red flags" for selected ICDs.
Conclusions:
- A systematic approach is essential for diagnosing ICDs.
- Family-based assessment and specialized clinic evaluation improve diagnostic yield.
- Recognizing specific inheritance patterns aids in risk assessment and genetic counseling.
Abstract:
This review outlines the workflow for patients and relatives with suspected inherited cardiovascular disease, diagnostic criteria, inheritance patterns, and »red flags« for selected conditions. Evaluation for inherited cardiovascular disease typically includes the index patient (proband) and relatives, emphasizing the importance of assessment at specialized clinics. Most inherited cardiovascular conditions have an autosomal dominant inheritance, but other patterns are seen.