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Biomedical subjects

L W Perry

Publications and source records attributed to L W Perry.

18 recordsLinked to original sources
PubMed1989

Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group.

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 Down's 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 associated 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 population-based study emphasizes biologic questions on the nature of the inheritance of cardiovascular malformations.

Epidemiologic Methods↗
PubMed1989

Long-term results after surgical repair of incomplete endocardial cushion defects.

Since 1964, 56 children (mean age, 6.7 years) underwent repair of incomplete endocardial cushion defects. Forty patients had isolated ostium primum defects. Additional congenital defects were present in 17 patients (30%). All patients underwent patch closure of the ostium primum defect and 47 of 56 patients (84%) underwent mitral valvuloplasty. Hospital mortality was 1.8% (one death). Arrhythmias developed in 7 other patients in the early postoperative period, of which six were transient and resolved completely. One patient required early pacemaker placement for complete heart block. Cumulative follow-up was 378 patient-years. There were three late deaths (5.7%), and additional operations were required in 12 patients (22.6%). Seven of these 12 patients required mitral valve replacement for severe mitral regurgitation. The mean interval between initial repair and mitral valve replacement was 4.2 years, with only three valves needing replacement within 12 months. There was a significant correlation between the severity of mitral regurgitation before initial repair and subsequent need for mitral valve replacement. Late onset atrial arrhythmias have developed in 6 patients. Current functional status has been evaluated in 50 of 52 surviving patients and 88.5% are in NYHA class I, with the remainder in class II.

Adolescent↗
PubMed1989

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.

Chromosome Aberrations↗
PubMed1989

Increased prevalence of ventricular septal defect: epidemic or improved diagnosis.

The Baltimore-Washington Infant Study is an ongoing case-control study of congenital cardiovascular malformations in infants in whom the clinical diagnoses have been confirmed by echocardiography, catheterization, surgery, or autopsy. An increase in the prevalence of ventricular septal defects was detected in 1,494 infants with congenital cardiovascular malformations between 1981 and 1984. The prevalence of congenital cardiovascular malformations increased from 3.6 to 4.5 per 1,000 live births (P less than .025) and the prevalence of ventricular septal defect increased from 1.0 to 1.6 per 1,000 live births (P less than .001). The increase in ventricular septal defects accounted for the total increase in congenital cardiovascular malformations. The prevalence of isolated ventricular septal defect increased from 0.67 to 1.17 per 1,000 live births (P less than .001). The prevalence of ventricular septal defect with associated coarctation of the aorta, patent ductus arteriosus, atrial septal defect, and pulmonic stenosis did not change. The prevalence of ventricular septal defect diagnosed by catheterization, surgery, and autopsy did not change; however, defects diagnosed by echocardiography increased from 0.30 to 0.70 per 1,000 live births (P less than .001). It is concluded that the reported increase in prevalence of ventricular septal defect is due to improved detection of small, isolated ventricular septal defects and that there is no evidence of an "epidemic."

Cardiac Catheterization↗
PubMed1978

Cerebrovascular abnormalities in postoperative coarctation of aorta. Four cases demonstrating left subclavian steal on aortography.

Fifteen children, aged 0.3 to 10.5 years (mean 3.8 years) after repair of coarctation of the aorta, underwent cerebral arteriography as part of postoperative catheterization. Four manifested central nervous system symptoms postoperative catheterization. Four manifested central nervous system symptoms postoperatively: Two had persistent headaches, one had exercise-induced hemianopsia and one had major motor seizures. All four had greater blood pressure in the right arm than in the left and evidence of subclavian steal, with retrograde filling of the left vertebral and left subclavian arteries on selective right vertebral arteriography. Ligation of the left vertebral artery in three patients and left subclavian graft arterioplasty in one resulted in disappearance of symptoms. None of the 11 asymptomatic patients manifested cerebrovascular anomalies, and no patient in the series had berry aneurysm. This study suggests that patients with central nervous system symptoms and a disparity of blood pressure in the arms after surgery for coarctation of the aorta should be evaluated carefully to exclude subclavian steal as the cause of the symptoms.

Aortic Coarctation↗
PubMed1978

Subclavian flap aortoplasty for treatment of coarctation in early infancy.

In a 2-yr period 12 infants less than 2 mo of age underwent surgery for critical coarctation of the aorta. All had severe congestive failure with unsatisfactory response to medical therapy. In all patients the coarctation was located in the preductal or preligamentous region. Eleven patients had an associated ventricular septal defect (VSD). Early (1-mo) survival in the patients with VSD was 82%. Two early deaths occurred; there have been five late deaths on follow-up of up to 30 mo. In all patients who expired, the cause of death was unrelated to the coarctation repair. Recurrent coarctation has occurred in one patient. Early aggressive surgical intervention is indicated in the management of coarctation of the aorta both with and without VSD.

Abnormalities, Multiple↗
PubMed1978

Primitive ventricle with normally related great vessels and stenotic subpulmonary outlet chamber. Angiographic differentiation from tetralogy of Fallot.

Four patients with primitive ventricle and normally related great vessels with stenotic subpulmonary outlet chamber (Holmes' heart with pulmonary stenosis) are reported. The history, physical examination, and chest x-ray film are not helpful in distinguishing Holmes' heart with pulmonary stenosis from tetralogy of Fallot. Electrocardiogram often provides the first clue to the presence of Holmes' heart; left axis deviation with or without left ventricular hypertrophy is an unusual finding in tetralogy of Fallot, but common in Holmes' heart. Selective ventriculography is diagnostic: the right ventricular outflow chamber overlies the aortic root and aortic valve in the frontal view in Holmes' heart with pulmonary stenosis, but is to the left of the aortic valve in tetralogy of Fallot; no ventricular septum can be identified in Holmes' heart. The diagnosis can be suspected in a child with clinical features of tetralogy of Fallot but atypical electrocardiogram, and can be established by angiography.

Adolescent↗
PubMed1977

Isolated partial anomalous pulmonary venous drainage associated with pulmonary vascular obstructive disease.

Five patients with partial anomalous pulmonary venous drainage with intact atrial septum are described. In two patients, pulmonary arterial hypertension and pulmonary vascular disease developed. Both had one or more right pulmonary veins draining anomalously to the right superior vena cava. It is postulated that a combination of increased pulmonary blood flow and reflex pulmonary vascular changes contributes to the production of pulmonary vascular obstructive disease.

Adult↗
PubMed1976

Aortic valve atresia: a new classification based on necropsy study of 73 cases.

Certain clinical and morphologic observations are described in 73 necropsy patients with aortic valve atresia. The mean age at death was 5 days; 80 percent died during the first week of life, and 70 percent were boys. Of the 73 patients, 69 (95 percent) had a hypoplastic left ventricle with intact ventricular septum and either an atretic (25 patients) or hypoplastic (44 patients) mitral valve. The other four patients had a well developed left ventricle with one or more defects in the ventricular septum and either an atretic (one patient) or well developed (three patients) mitral valve. Review of previous reports on aortic valve atresia disclosed that a well developed left ventricle or ventricular septal defect in association with absence of the aortic valve was extremely rare. A new classification for aortic valve atresia is presented based on the status of the ventricular septum, which in turn appears to determine the size of the left ventricular cavity. The predilection for male subjects for all types of aortic valve disease, including atresia, is emphasized.

Aortic Valve↗
PubMed1976

Aortico-left ventricular tunnel. Clinical profile, diagnostic features, and surgical consideration.

Case histories of 2 patients with aortico-left ventricular tunnel are reported. A review of the literature on this subject shows a unique clinical profile. The electrocardiographic (ECG) and roentgenographic features as well as the hemodynamic and angiographic data of 18 previously reported patients are reviewed. The anatomy and pathophysiology of the defect are discussed and surgical management is described. It is recommended that surgical correction be carried out as soon as the diagnosis is established.

Aortography↗
PubMed1975

Acute bacterial percarditis in children: report of 25 cases.

Twenty-five patients, aged 5 months to 14 years, with acute bacterial pericarditis are reported. Thirteen (52 per cent) of the patients died. The presenting symptoms, associated illness and physical findings, bacteriology, and response to therapy are reviewed. Optimum therapy consists of intravenous administration of specific antibiotics combined with surgical drainage; 90 per cent of our patients treated in this fashion survived. Antibiotic therapy alone is usually inadequate, especially in the presence of significant effusion, and among our patients only three of 10 patients so treated survived. One patient developed constrictive pericarditis 1 month after the initial attack with meningococcal pericarditis and required pericardectomy.

Acute Disease↗