ABSTRACT
A genetic-epidemiologic study was undertaken of a white Colorado population of 207 patients who had a myocardial infarction before age 55 years. Nineteen independent variables were compared between the 207 cases and 621 controls, matched 3:1. The highest risk ratios were associated with a positive family history for ischemic heart disease (IHD). The heritability of IHD was 63% when families with the monogenic forms of hyperlipoproteinemia were included, and 56% when they were excluded. A risk index was developed that incorporates family history into a data base of risk factors, which can be readily assessed by the clinician obtaining a screening history, physical and standard laboratory tests. A scale of 0-10 was devised and the predictive value of the index was tested against another data set. The efficiency of the index was maximal at a screening level of 5. This study suggests that it is logistically feasible to seek patients at high risk for intensive management in a clinical setting (high-risk strategy) using risk indices similar to the one developed for this study, which emphasize the very important familial component to IHD.
Subject(s)
Coronary Disease/genetics , Adult , Age Factors , Cholesterol/blood , Coronary Disease/blood , Coronary Disease/prevention & control , Diabetes Mellitus/genetics , Female , Humans , Male , Middle Aged , Myocardial Infarction/genetics , Risk , Smoking/complications , Triglycerides/bloodABSTRACT
A five-year study of possible teratogenicity of exogenous female sex hormones included three case-control studies and one cohort study. The first case-control study disclosed an estimated relative risk of 8.41 and a highly significant difference in maternal hormonal exposure (P less than .001) between controls and infants with three major anomalies of the VACTERL group (V, vertebral; A, anal; C, cardiac; T, tracheal; E, esophageal; R, renal; and L,limb). Relative risk (RR) estimates of 5.58 (P = .017) and 3.35 (P less than .001) were found in two case-control studies involving maternal hormonal exposure and patients with congenital heart lesions without other malformations. A controlled, single-blind prospective study disclosed an excess of patients with major malformations (RR = 2.75), congenital heart anomalies (RR = 6), and neurological and neural tube disorders preponderant in the presence of a precipitously declining exposure rate during a three-year period in our referral area.
Subject(s)
Abnormalities, Drug-Induced/etiology , Estrogens/adverse effects , Progestins/adverse effects , Abnormalities, Multiple/chemically induced , Anal Canal/abnormalities , Child , Child, Preschool , Esophagus/abnormalities , Female , Fetus/drug effects , Heart Defects, Congenital/chemically induced , Humans , Infant , Infant, Newborn , Kidney/abnormalities , Limb Deformities, Congenital , Male , Pregnancy , Pregnancy Trimester, First , Spine/abnormalities , Trachea/abnormalitiesABSTRACT
Echocardiographic examinations were performed in 26 patients with clinical evidence of Marfan's syndrome. Twelve patients were demonstrated to have isolated dysfunction of the mitral valvular apparatus of varying severity. Four patients demonstrated involvement of the aortic root as well as mitral valvular abnormalities, and six patients had problems involving the aortic root only. Four patients had no demonstrable cardiac abnormalities. Therapeutic decisions which could previously have been made with confidence only on the basis of cardiac catheterization with angiocardiographic studies were made by ultrasonic evaluation.
Subject(s)
Echocardiography , Marfan Syndrome/physiopathology , Adolescent , Adult , Aorta/physiopathology , Aortic Valve Insufficiency/complications , Child , Female , Humans , Infant , Infant, Newborn , Male , Marfan Syndrome/complications , Middle Aged , Mitral Valve/physiopathology , Mitral Valve Insufficiency/complicationsABSTRACT
Echocardiography has been used for cardiovascular evaluation of individuals and families with Ullrich-Noonan syndrome. Previously undiagnosed left ventricular disease has been found as a discrete lesion or in association with other cardiac abnormalities. This raises the estimated frequency of heart disease in the Ullrich-Noonan syndrome to about 50%. Since left ventricular disease in this syndrome may not be entirely typical of asymmetric septal hypertrophy, caution should be exercised in the echocardiographic diagnosis. To date, one notable difference between the echocardiograms in these patients and other patients with asymmetric septal hypertrophy is the absence of systolic anterior motion of the mitral valve. Since the most common cardiac lesion the the Ullrich-Noonan syndrome is pulmonary stenosis, the potential for septal thickening produced by severe pulmonary stenosis must also be taken into account.
Subject(s)
Cardiomegaly/complications , Echocardiography , Turner Syndrome/complications , Adolescent , Adult , Cardiomegaly/diagnosis , Cardiomegaly/genetics , Child , Child, Preschool , Female , Heart Defects, Congenital/genetics , Humans , Male , Phenotype , Pulmonary Valve Stenosis/geneticsABSTRACT
A case of double outlet right ventricle with multiple associated cardiovascular anomalies, including total absence of the aortic valve, is reported.
