Education And Debate

An Ethical Debate: Genetic testing for familial hypertrophic cardiomyopathy in newborn infants: Clinicians' perspective

BMJ 1995; 310 doi: (Published 01 April 1995) Cite this as: BMJ 1995;310:856
  1. Mark P Ryan, research fellowa,
  2. Julie French, research nursea,
  3. Sahar Al-Mahdawi, senior research officerb,
  4. Petros Nihoyannopoulos, senior lecturera,
  5. John G F Cleland, senior lecturera,
  6. Celia M Oakley, professora
  1. a Department of Clinical Cardiology, Royal Postgraduate Medical School, Hammersmith Hospital, London W12 0NN
  2. b Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, Imperial College, London W2 1PG
  1. Correspondence to: Professor Oakley.

    Identification of genes for hypertrophic cardiomyopathy has made preclinical diagnosis possible in families with a mutation. As yet, however, no treatment prevents the development of myocardial hypertrophy, and medical intervention has not been shown to improve prognosis. A team from Hammersmith Hospital carrying out research into genetic causes of the disease report that they were asked by a couple to screen their daughter at birth. The couple also give their view of screening. We asked two medical geneticists, a cardiologist, and a paediatrician with an interest in ethics to comment on the implications.

    Hypertrophic cardiomyopathy is inherited as an autosomal dominant but has considerable genetic and phenotypic heterogeneity.1 2 Clinical screening is inaccurate. Several patients from affected families in whom the diagnosis had previously been excluded by electrocardiography and echocardiography have since been shown to have a mutation of the cardiac β myosin heavy chain gene MYH7.3 Once a mutation of MYH7 has been identified in a family genetic testing is relatively …

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