Joel I. Brenner

Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study.

The Baltimore-Washington Infant Study is a population-based case-control study that seeks to identify risk factors for cardiovascular malformations. Between 1981 and 1986, a total of 2102 infants with cardiovascular malformations were ascertained, among whom 271 (12.9%) also had a chromosome abnormality. Among 2328 random control subjects, only two had a chromosome abnormality. Down syndrome with cardiovascular malformations had a maternal age-adjusted regional prevalence of 4.33/10,000 for the white population and 3.70/10,000 for the nonwhite population. Endocardial cushion defect, the predominant cardiac abnormality in Down syndrome (60.1%), rarely occurred as an isolated cardiac lesion (2.8%). The absence of transpositions and the rarity of heterotaxias and of right- and left-sided obstructive lesions in trisomies indicate that there may be a genetic influence on specific embryologic mechanisms. Alimentary tract lesions were more common in Down syndrome than among euploid patients with heart disease and more severe than in control subjects. Urinary tract lesions also occurred in excess of the rate in control subjects. The coexistence of these major malformations with heart disease raises the possibility of incomplete expression of the VA(C)TER (vertebral, anal, cardiac, tracheal, esophageal renal) association. The selective association of chromosome abnormalities with certain cardiovascular defects is now beginning to be explained by reported embryologic studies on cellular characteristics. An explanation of the negative association with transposition and obstructive lesions requires further multidisciplinary studies on genetic and epigenetic factors.

Sudden cardiac death in athletes: the Lausanne Recommendations

Objectives This study reports on sudden cardiac death (SCD) in sport in the literature and aims at achieving a generally acceptable preparticipation screening protocol (PPSP) endorsed by the consensus meeting of the International Olympic Committee (IOC). Background The sudden death of athletes under 35 years engaged in competitive sports is a well-known occurrence; the incidence is higher in athletes (∼ 2/100 000 per year) than in non-athletes (2.5:1), and the cause is cardiovascular in over 90%. Methods A systematic review of the literature identified causes of SCD, sex, age, underlying cardiac disease and the type of sport and PPSP in use. Methods necessary to detect pre-existing cardiac abnormalities are discussed to formulate a PPSP for the Medical Commission of the IOC. Results SCD occurred in 1101 (1966–2004) reported cases in athletes under 35 years, 50% had congenital anatomical heart disease and cardiomyopathies and 10% had early-onset atherosclerotic heart disease. Forty percent occurred in athletes under 18 years, 33% under 16 years; the female/male ratio was 1/9. SCD was reported in almost all sports; most frequently involved were soccer (30%), basketball (25%) and running (15%). The PPSP were of varying quality and content. The IOC consensus meeting accepted the proposed Lausanne Recommendations based on this research and expert opinions (http://multimedia.olympic.org/pdf/en_report_886.pdf). Conclusion SCD occurs more frequently in young athletes, even those under the age of 18 years, than expected and is predominantly caused by pre-existing congenital cardiac abnormalities. Premature atherosclerotic disease forms another important cause in these young adults. A generally acceptable PPSP has been achieved by the IOCs acceptance of the Lausanne Recommendations.

Management outcome and follow-up of fetal tachycardia

OBJECTIVES The aim of this study was to evaluate fetal tachycardia and the efficacy of maternally administered antiarrhythmic agents and the effect of this therapy on delivery and postpartum management. BACKGROUND Sustained fetal tachycardia is a potentially life-threatening condition in which pharmacologic therapy is reported to be effective. There is ongoing discussion about optimal management. METHODS A group of 51 patients with M-mode echocardiographically documented fetal tachycardia was studied retrospectively. RESULTS Thirty-three fetuses had supraventricular tachycardia; 15 had atrial flutter; 1 had two episodes of both; and 2 had ventricular tachycardia. Fetal hydrops was seen in 22 patients. Thirty-four fetuses received maternal therapy with either digoxin or flecainide as the first administered drug (additional drugs were given in 12). Drug treatment was successful in establishing acceptable rhythm control in 82% (84% without, 80% with hydrops). In the latter group the median number of drugs and number of days to conversion were higher. Three patients with fetal hydrops died. In 50% of cases, tachycardia reappeared at delivery: 9 neonates presented with atrial flutter, 14 with supraventricular tachycardia and 1 with ventricular tachycardia. Seventy-eight percent of the group had pharmacologic therapy by 1 month of age and 14% by 3 years. CONCLUSIONS Fetal tachycardia can be treated adequately in the majority of patients, even in the presence of hydrops, and therefore emergency delivery might not be indicated. Digoxin and flecainide were drugs of first choice and produced no serious adverse effects in this series of patients. The majority of patients do not require prolonged therapy.

Congenital cardiovascular malformations: Questions on inheritance

Abstract The Baltimore-Washington Infant Study, an epidemiologic investigation of congenital heart disease, searches for genetic and environmental risk factors. Among 2,102 infants with heart disease, 17.5% had a noncardiac abnormality of chromosomal or genetic origin, whereas among 2,328 control infants, only 0.7% had a genetic abnormality. Familial cardiovascular malformations encountered can be grouped into five distinct etiologic mechanisms. Single gene effects may be responsible for the specific histologic and biochemical changes in familial atrial septal defect with conduction disturbance and also in idiopathic ventricular hypertrophy. Left heart lesions showed familial concordance by the presumed morphogenetic mechanism of abnormal embryonic blood flow with phenotypes of varying severity. Pulmonary stenosis appeared with familial heritable disorders, as well as a partially concordant lesion with tetralogy of Fallot. Ventricular septal defect with transposition of the great arteries (one sibling pair) and with truncus arteriosus (two sibling pairs) indicate forme fruste expression of conotruncal defects. Endocardial cushion defect occurred with and without Downs syndrome in members of three families, suggesting inheritance of a defect affecting cellular migration. Heritable blood coagulopathies occurred in case families and not in control families. The association of hemophilia and transposition, observed also by others, is extremely unlikely by chance and suggests genetic errors of endothelial cell function. The description of specific families from a populationbased study emphasizes biologic questions on the nature of the inheritance of cardiovascular malformations.

Neurodevelopmental outcomes in children surviving d-transposition of the great arteries

&NA; We investigated the prevalence of neurological abnormalities and learning problems in a population cohort of children with dextro‐transposition of the great arteries (d‐TGA) born between January 1, 1981 and July 1, 1990. Fifty‐seven of the 60 survivors and 35 siblings in the control group underwent neurodevelopmental assessments. As compared with population norms, children with d‐TGA were more likely to have abnormal neurological examination findings, learning disabilities, and behavioral disorders. There was no significant difference in IQ or frequency of abnormal neurological examination results between children undergoing atrial as compared with arterial switch procedures. Compared with their siblings, the children with d‐TGA had more neurological findings and learning disabilities. The siblings of children with d‐TGA had more learning problems than expected. The findings suggest that ongoing surveillance is indicated for children surviving d‐TGA. Furthermore, a familial tendency for learning differences should to be taken into consideration when neurodevelopmental outcomes of various perioperative parameters are examined.

Cardiologic Perspectives of Chest Pain in Childhood: A Referral Problem? To Whom?

Discussed are the diagnostic and therapeutic issues of cardiac disease in the pediatric age group that have the potential to result in ischemic ventricular dysfunction. The discussion then turns to the nontraumatic thoracic, gastrointestinal, and psychogenic disturbances that are likely to produce symptoms of chest pain. In this context, the question of when to refer, when to reassure, when to begin a diagnostic evaluation, and when to institute longitudinal follow-up are addressed.

Sudden death in supravalvular aortic stenosis: Fusion of a coronary leaflet to the sinus ridge, dysplasia and stenosis of aortic and pulmonic valves

Supravalvular aortic stenosis (SVAS) is an uncommon congenital cardiac anomaly. We report sudden death, occurring during exercise, of a child who had SVAS with fusion of the right coronary aortic leaflet to the supravalvular aortic ridge, resulting in a closed sinus of Valsalva except for a few pinpoint fenestrations in the dysplastic leaflet. In addition, both aortic and pulmonic valves were dysplastic and stenotic. We postulate that near total isolation of the right coronary artery ostium from the aortic lumen compromised the blood supply to the hypertrophied ventricles. We emphasize the importance of other cardiac anomalies associated with SVAS as well as the development of coronary insufficiency.

Cardiac strangulation: Two-dimensional echo recognition of a rare complication of epicardial pacemaker therapy

Abstract Permanent epicardial pacemaker therapy is occasionally required in newborn infants for congenital complete heart block and in young infants for surgically acquired heart block. 1,2 In addition to the usual concerns encountered in any age group, such as lead fracture, pacemaker dysfunction, pericardial effusion and infection, 3–5 infants present the additional problem of requiring an adequate length of wire to allow for growth. We report an unusual complication of pacemaker therapy in a newborn: cardiac strangulation.

Predictors of developmental outcomes in children with complete transposition

Cognitive, functional, educational achievement and behavioural measures were employed to assess neurobehavioral status in 57 of 60 participants who were initially enrolled in the Baltimore-Washington Infant Study, and who survived surgical correction of complete transposition (concordant atrioventricular and discordant ventriculo-arterial connections). Charts were reviewed to investigate the relationship between birth variables, surgical strategy and developmental outcomes. Higher preoperative weight was associated with better outcomes on the Stanford-Binet Short-term Memory subtest, while lower preoperative oxygen tension was associated with better outcomes on the Abstract/Visual Reasoning subtest and a test of Visual-Motor Integration. Longer total bypass time was associated with poor outcomes on the Short-term Memory subtests. Higher average flow rates during cooling and rewarming were associated with higher scores in the test of short term memory but poorer outcomes on a test for visual motor integration. Longer cooling times were associated with higher scores on the test for Visual-Motor Integration. Patients suffering seizures scored lower on the Stanford-Binet Composite, as well as in their tests of achievement. The data indicate that non-verbal skills may be particularly sensitive to variations in surgical strategies employed to correct complete transposition. Overt neurological events, such as seizures, were related to global deficits in intellectual functioning. Prospective studies evaluating systemic variations in surgical procedures and attempts to prevent and manage perioperative neurological events are important for further investigation of neurodevelopmental outcomes in children surviving surgical correction.

Chest pain in childhood and adolescence.

Summary Investigation of a patients complaint of chest pain must focus on a wide variety of potential etiologies. The history and careful physical examination will usually allow the primary physician to exclude most cardiac causes, with the possible exception of paroxysmal dysrhythmias. The subsequent investigation can then be directed in a manner most likely to yield the correct diagnosis. Routine chest x ray, for example, is not likely to offer specific diagnostic information in most of the cardiac abnormalities cited in Table 1 . Electrocardiography and Holter monitoring should be employed to investigate arrhythmias and combined with stress testing to document exercise-induced ischemia. Anatomic and functional abnormalities of the heart should be pursued by echocardiography, preferably two-dimensional. Radionuclide study may also help in the functional evaluation of right and left ventricles. A major factor requiring rapid and careful attention is the patients and familys perception of the significance of the pain. The child or adolescent may have been exposed to a friend or family member with a cardiac disability or a recent cardiac death. Misunderstanding and misconceptions about the nature of the medical problem may result in a conversion reaction taking the form of chest pain, abdominal pain, headache, or other somatic complaint Table 1. . Cardiac Chest Pain I. Structural cardiac disease a. Left-ventricular outflow tract obstruction b. Mitral valve prolapse c. IHSS d. Cardiomyopathy e. Coronary arterial anomalies f. Aortic root dissection g. Ruptured sinus of valsalva aneurysm II. Inflammatory myo-pericardial disease a. Rheumatic peri-myocarditis b. Viral-bacterial pericarditis c. Coronary arteritis-Kawasakis disease d. Autoimmune pericardial disease e. Adjacent tumor process f. Contiguous pulmonary inflammation III. Arrhythmia a. Paroxysmal tachycardia b. Tachy-brady syndrome c. Complete heart block [20]. Recognition of this circumstance and a measure of appropriate concern and reassurance will often stem the continuation of patient symptoms, thus ending the problem prior to a lengthy specialty evaluation. For reassurance to pass convincingly from the primary care physician to the patient and his or her family, a systematic evaluation of potential cardiac causes of chest pain must be carried out promptly and efficiently. Given the guidelines outlined in this review, most of the cardiac causes of chest pain can be elucidated on the initial cardiac history and examination. Patient anxiety can only be increased by referral to subspecialty care when there is little suspicion of a cardiac basis for the chest pain. Recognition of other organic etiologies and family dynamics may eventually play the dominant role in the presentation of children and adolescents with recurrent chest pain when no cardiac abnormality can be found. Attention to the needs of this group of patients with “idiopathic” recurrent chest pain should not grow out of the lack of specific diagnosis following a battery of time-consuming and expensive laboratory tests and subspecialty evaluation, but rather from the physicians recognition of all of the factors likely to result in chest pain in this age group.