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Biomedical subjects

David S Wald

Publications and source records attributed to David S Wald.

10 recordsLinked to original sources
PubMed2006

Carney complex.

We report an illustrated case of a 61-year-old woman with multiple atrial myxomas and cutaneous hyperpigmentation as part of the Carney complex. The case is notable for an unusually late presentation in life and a strong family history of atrial myxomas and sudden death. The importance of regular life-long echocardiographic screening and surveillance in all family members of affected cases is emphasized.

Adolescent↗
PubMed2004

Mortality from hypertrophic cardiomyopathy in England and Wales: clinical and screening implications.

OBJECTIVES: Hypertrophic cardiomyopathy is considered a relatively common cause of death in the young. Screening for the disorder has been advocated, but its potential value cannot be assessed because the number of deaths in asymptomatic cases in the general population has not been investigated. We determined the annual number of deaths (and death rates) from hypertrophic cardiomyopathy in England and Wales according to age, sex and the presence or absence of symptoms so that an affected individual's risk of dying from the disorder and the implications of screening could be assessed. METHODS: Ascertainment of all deaths from hypertrophic cardiomyopathy over a 3-year period (1996-1998), using death certification data from the Office of National Statistics. Deaths in people without symptoms were identified from coroner's reports and correspondence with pathologists who conducted the necropsies. RESULTS: There were 184 deaths per year from hypertrophic cardiomyopathy in England and Wales (about 15% of all deaths from cardiomyopathy) of which one third (65) were in people without symptoms. Most (110) of the 184 deaths each year were in people over age 55. Under age 55 there were only 37 deaths each year in asymptomatic people, out of an estimated 60,000 people with the disorder in the population. Of the 37 deaths, 14 (20%) occurred in relation to physical activity and 2 after competitive sport. CONCLUSIONS: In young people without symptoms hypertrophic cardiomyopathy is fairly common (1 in 500) but it rarely causes death; the case-fatality rate is about 6 per 10,000 per year. Current risk estimates from the study of patients in tertiary referral centers or general hospital clinics (420 and 110 deaths per 10,000 per year, respectively) are not applicable to asymptomatic people in the general population; such people, if incidentally identified can be reassured of their low risk of death. Screening would not be worthwhile unless a satisfactory test becomes available that can detect those few cases likely to die.

Autopsy↗
PubMed2004

The dose-response relation between serum homocysteine and cardiovascular disease: implications for treatment and screening.

BACKGROUND: With the recognition that serum homocysteine may cause cardiovascular disease there is clinical interest in homocysteine measurement to guide treatment with folic acid. It is uncertain whether treatment is best directed at those with high homocysteine or those at high risk irrespective of initial homocysteine. DESIGN AND METHODS: Dose-response plots of the associations between serum homocysteine and ischaemic heart disease and deep vein thrombosis were determined from retrospective (case-control) studies (a meta-analysis of 12 age-matched studies) prospective studies and studies of the C677T MTHFR polymorphism (a comparison of risk in three genotypes in a meta-analysis of 72 studies). The value of serum homocysteine as a screening test was assessed from distributions of serum homocysteine in men who did and did not die from ischaemic heart disease in a large prospective study. RESULTS: There were straight-line relationships between serum homocysteine and disease events in the three types of study; a given decrease in homocysteine would produce a similar proportional risk reduction from any pre-treatment level. There was substantial overlap between the distributions of serum homocysteine in men who did and did not die of ischaemic heart disease, indicating poor screening performance; there was no serum homocysteine cut-off that concentrated the majority of disease events into a small minority of the population. CONCLUSION: Interventions to lower serum homocysteine, if judged to be worthwhile, should not be limited to people with a high homocysteine but should be offered to everyone at high risk, regardless of pre-treatment homocysteine.

Adult↗
PubMed2002

Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis.

OBJECTIVE: To assess whether the association of serum homocysteine concentration with ischaemic heart disease, deep vein thrombosis and pulmonary embolism, and stroke is causal and, if so, to quantify the effect of homocysteine reduction in preventing them. DESIGN: Meta-analyses of the above three diseases using (a) 72 studies in which the prevalence of a mutation in the MTHFR gene (which increases homocysteine) was determined in cases (n=16 849) and controls, and (b) 20 prospective studies (3820 participants) of serum homocysteine and disease risk. MAIN OUTCOME MEASURES: Odds ratios of the three diseases for a 5 micromol/l increase in serum homocysteine concentration. RESULTS: There were significant associations between homocysteine and the three diseases. The odds ratios for a 5 micromol/l increase in serum homocysteine were, for ischaemic heart disease, 1.42 (95% confidence interval 1.11 to 1.84) in the genetic studies and 1.32 (1.19 to 1.45) in the prospective studies; for deep vein thrombosis with or without pulmonary embolism, 1.60 (1.15 to 2.22) in the genetic studies (there were no prospective studies); and, for stroke, 1.65 (0.66 to 4.13) in the genetic studies and 1.59 (1.29 to 1.96) in the prospective studies. CONCLUSIONS: The genetic studies and the prospective studies do not share the same potential sources of error, but both yield similar highly significant results-strong evidence that the association between homocysteine and cardiovascular disease is causal. On this basis, lowering homocysteine concentrations by 3 micromol/l from current levels (achievable by increasing folic acid intake) would reduce the risk of ischaemic heart disease by 16% (11% to 20%), deep vein thrombosis by 25% (8% to 38%), and stroke by 24% (15% to 33%).

Cohort Studies↗