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Standing on the Shoulders of Giants: J.A.P. Paré and the Birth of Cardiovascular Genetics
Srijita Sen-Chowdhry1, William J McKenna2
1Institute of Cardiovascular Science, University College London, London, United Kingdom; Department of Epidemiology, Imperial College, St Mary's Campus, Norfolk Place, London, United Kingdom.
Insights
A family's history of sudden death and stroke led to the discovery of familial hypertrophic cardiomyopathy. Genetic analysis identified the MYH7 gene mutation, pioneering cardiovascular genomics.
Area of Science:
- Cardiovascular Medicine
- Human Genetics
- Medical History
Background:
- Investigated a Quebec family with a history of sudden death and stroke, termed the "Coaticook curse."
- Physicians described familial hypertrophic cardiomyopathy, a classic case of inherited cardiovascular disease.
Discussion:
- Linkage analysis and direct sequencing identified a mutation in the β myosin heavy chain gene (MYH7).
- MYH7 was the first gene linked to cardiovascular disease, initiating further research.
- This discovery enabled mechanistic studies and clinical applications like predictive genetic testing.
Key Insights:
- The initial clinical observations in the 1950s laid the foundation for modern cardiovascular genomics.
- Identification of the MYH7 mutation marked a significant advancement in understanding inherited heart conditions.
- This research highlights the crucial role of family studies in uncovering genetic causes of disease.
Outlook:
- Paved the way for identifying mutations in other heritable cardiovascular disorders.
- Enabled advancements in mechanistic studies and clinical applications, including predictive testing.
- The study's legacy continues to influence the field of cardiovascular genomics and personalized medicine.
Abstract:
Sudden death and stroke afflicted a family from rural Quebec with such frequency as to be called the Coaticook curse by the local community. In Montreal in the late 1950s, a team of physicians led by J.A.P. Paré investigated this family for inherited cardiovascular disease. Their efforts resulted in an extensive and now classic description of familial hypertrophic cardiomyopathy. A quarter of a century later, the same family was the subject of linkage analysis and direct sequencing, culminating in the isolation of a mutation in the gene encoding the β myosin heavy chain. MYH7 was the first gene implicated in a cardiovascular disease, which paved the way for identification of mutations in other heritable disorders, mechanistic studies, and clinical applications, such as predictive testing. The present era of cardiovascular genomics arguably had its inception in the clinical observations of Dr Paré and his colleagues more than 50 years ago.
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