Modern clinical genetics in cardiology.

Area of Science:

• Cardiovascular Medicine
• Medical Genetics
• Genomics

Background:

• Molecular genetics advances have transformed cardiovascular disease (CVD) understanding, revealing genetic underpinnings of pathogenesis and natural history.
• Significant knowledge gaps persist between rapid genetic discoveries, particularly in cardiovascular Mendelian disorders, and their clinical implementation.
• Cardiologists face practical challenges in integrating genetic insights into patient care.

Purpose of the Study:

• To review practical issues cardiologists encounter when suspecting Mendelian cardiovascular disorders.
• To provide key messages for integrating genetic counseling and testing into patient management.
• To align genetic approaches with precision medicine principles for cardiovascular care.

Main Methods:

• Literature review focusing on genetic counseling and testing in cardiovascular Mendelian disorders.
• Analysis of practical challenges in clinical application of genetic knowledge.
• Synthesis of recommendations for integrating genetic approaches into cardiology practice.

Main Results:

• Identification of key challenges in diagnosing and managing Mendelian cardiovascular diseases.
• Outline of essential considerations for genetic counseling and testing procedures.
• Framework for incorporating genetic data into personalized cardiovascular treatment strategies.

Conclusions:

• Bridging the gap between genetic knowledge and clinical practice is crucial for advancing cardiovascular medicine.
• Effective genetic counseling and testing are vital for managing Mendelian cardiovascular disorders.
• Precision medicine approaches, guided by genetic insights, offer innovative therapeutic avenues for cardiovascular patients.