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The genetics of hypertrophic cardiomyopathy: Teare redux
  1. H Watkins,
  2. H Ashrafian,
  3. W J McKenna
  1. Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
  1. Correspondence to: Professor Hugh Watkins, Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK; hugh.watkins{at}cardiov.ox.ac.uk

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In contrast to the challenges that frustrate the complete genetic delineation of complex common diseases (for example, type 2 diabetes mellitus or coronary disease),13 there has been extensive success in the delineation of highly penetrant loci in rarer disorders that conform to Mendelian inheritance.4 Linkage studies in multi-case, multi-generation families have identified more than 1300 of such causal genes. Hypertrophic cardiomyopathy (HCM) represents the first, and hence perhaps best known, example of an inherited cardiac disorder to be understood in this way and its study has epitomised the application of genetics to cardiovascular disease.5 6

A generation before any such genetic advances contributed to the understanding of HCM, Donald Teare’s now classic 1958 paper7 emphasised aspects of the disease that not only endure but resonate and inform today’s state-of-the-art genetic research. After his training at Gonville and Caius College, Cambridge, and at St George’s Hospital, the professor of forensic medicine at the University of London went on to become the third member of the forensic “Three musketeers” of the 1940s,8 who were involved with more than 80 000 postmortems (some of which were causes célèbres). The fact that Teare made a number of seminal observations reflects more than the volume of this work; as Michael Davies noted, he identified HCM because of “[his] innate ability to recognise morphological abnormalities and the intellectual curiosity to store hearts and other organs away for future consideration. The concordance of a similar abnormal morphological appearance of the hearts in two subjects from one family dying suddenly at a young age prompted a search for other hearts with a similar appearance in his collection”.9

In this review we propose to further update10 and re-evaluate three of Teare’s major original observations in light of our current understanding of …

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