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Standing on the Shoulders of Giants: J.A.P. Paré and the Birth of Cardiovascular Genetics

2015; Elsevier BV; Volume: 31; Issue: 11 Linguagem: Inglês

10.1016/j.cjca.2015.05.026

1916-7075

Srijita Sen‐Chowdhry, William J. McKenna,

Williams Syndrome Research

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.