This report documents, for the first time, that a homoplasmic mitochondrial tRNA mutation may cause maternally inherited HCM. It highlights the significant contribution that homoplasmic mitochondrial tRNA substitutions may play in the development of cardiac disease. A restriction of the biochemical defect to the affected tissue has important implications for the screening of patients with cardiomyopathy for mitochondrial disease.

Objective-To investigate mortality, cause of death, survival, and quality of life in all types of cardiac malformation with congenital pulmonary atresia. Design-Retrospective analysis.

A 4 year old boy underwent cardiac transplantation because of cardiomyopathy with ischaemia. Following transplantation he developed neurological signs of Friedreich's ataxia and the diagnosis was confirmed with genetic testing. Cardiomyopathy is a rare presentation of Friedreich's ataxia and to our knowledge this is the first reported transplant operation for the cardiomyopathy associated with this condition. (Arch Dis Child 2001;84:167-168)

Objective-To determine whether women with congenital heart disease were receiving appropriate advice on contraception. Setting-Adult congenital heart disease clinic in a tertiary cardiac referral centre.Design-Questionnaire administered to 35 consecutive female patients attending the adult congenital clinic. The cardiologist assessed what the risk would be if each patient used an oestrogen containing contraceptive pill (OCP). Results-Of the 33 patients admitted to the study 6 patients thought their heart condition precluded them from taking an OCP when in fact it did not and 3 incorrectly said that an OCP would be suitable for them. Three women with relatively minor lesions had been incorrectly denied the OCP and 2 further patients were using inappropriate methods. There had been 6 unwanted pregnancies in the total group. Conclusions-Many women with congenital heart disease do not know the most appropriate method of contraception for them or have received incorrect advice. It is often patients with less severe lesions who receive the most inappropriate advice. It is clear that the family planning needs of this population are currently poorly catered for. Each unit must ensure that the information necessary in making informed decisions on contraception is available to the doctor advising on family planning. (Heart 1996;76:60-62)

We report on survival, rejection, lymphoma and renal function following cardiac transplant using a steroid-free maintenance immunosuppressive regimen. We have performed 73 cardiac transplants in 71 children under 16 yr of age in the last 12 yr. There were eight perioperative and four late deaths giving actuarial survival of 88, 88, 85 and 70% at 1, 2, 5 and 10 yr, respectively. A total of 11 (15.3%) children had one episode of rejection (grade 3) in the first 6 months; one died and one was re-transplanted because of rejection. There was only one episode of late rejection (8 yr post-transplant) because of low drug levels in a patient with lymphoma and sepsis. This patient did not survive. Three other children (5.6%) also developed lymphoma and recovered but one died subsequently of graft failure. Four children have developed severe renal failure (glomerular filtration rate GFR <30 mL/min/m2). Two have not survived and one is expected to commence dialysis soon. The remainder have mild to moderate renal impairment. We report excellent survival and low rejection rates without use of long-term steroids. However the doses of cyclosporin used have had a significant effect on renal function in many cases.