Structural abnormalities of great arterial walls in congenital heart disease: light and electron microscopic analyses.

BACKGROUND: Great arteries in congenital heart disease (CHD) may dilate, become aneurysmal, or rupture. Little is known about medial abnormalities in these arterial walls. Accordingly, we studied 18 types of CHD in patients from neonates to older adults. METHODS AND RESULTS: Intraoperative biopsies from ascending aorta, paracoarctation aorta, truncus arteriosus, and pulmonary trunk in 86 patients were supplemented by 16 necropsy specimens. The 102 patients were 3 weeks to 81 years old (average, 32+/-6 years). Biopsies were examined by light (LM) and electron (EM) microscopy; necropsy specimens by LM. Positive aortic controls were from 15 Marfan patients. Negative aortic controls were from 11 coronary artery disease patients and 1 transplant donor. Nine biopsies from acquired trileaflet aortic stenosis were compared with biopsies from bicuspid aortic stenosis. Negative pulmonary trunk controls were from 7 coronary artery disease patients. A grading system consisted of negative controls and grades 1, 2, and 3 (positive controls) based on LM and EM examination of medial constituents. CONCLUSIONS: Medial abnormalities in ascending aorta, paracoarctation aorta, truncus arteriosus, and pulmonary trunk were prevalent in patients with a variety of forms of CHD encompassing a wide age range. Aortic abnormalities may predispose to dilatation, aneurysm, and rupture. Pulmonary trunk abnormalities may predispose to dilatation and aneurysm; hypertensive aneurysms may rupture. Pivotal questions are whether these abnormalities are inherent or acquired, whether CHD plays a causal or facilitating role, and whether genetic determinants are operative.

Pathogenesis of the glomerular abnormality in cyanotic congenital heart disease.

We present evidence of 2 distinct glomerular abnormalities in cyanotic congenital heart disease--vascular and nonvascular--each believed to reflect a distinct pathogenesis. Glomeruli from both kidneys were studied with light microscopy in 13 necropsied cyanotic patients and in 8 controls. The vascular study characterized hilar arteriolar dilatation, capillary diameter, glomerular diameter, and capillary engorgement with red blood cells. The nonvascular study characterized juxtaglomerular cellularity, mesangeal cellularity, mesangeal matrix, focal interstitial fibrosis, and megakaryocytic nuclei per cm2 of renal cortex. There was a significant increase in each of the above vascular and nonvascular items of interest relative to controls. Electron microscopy identified whole megakaryocytes with their cytoplasm in glomeruli. The vascular abnormality is believed to result from intraglomerular release of nitric oxide. The nonvascular abnormality is believed to result from platelet-derived growth factor and transforming growth factor-beta.

Long-term outcome in congenitally corrected transposition of the great arteries: a multi-institutional study.

OBJECTIVES: The purpose of this study was to determine long-term outcome in adults with congenitally corrected transposition of the great arteries (CCTGA), with particular emphasis on systemic ventricular dysfunction and congestive heart failure (CHF). BACKGROUND: Patients with CCTGA have the anatomical right ventricle as their systemic pumping chamber, with ventricular dysfunction and CHF being relatively common in older adults. METHODS: Retrospective analysis of records of 182 patients from 19 institutions were reviewed to determine current status and possible risk factors for systemic ventricular dysfunction and CHF. Factors considered included age, gender, associated cardiac defects, operative history, heart block, arrhythmias and tricuspid (i.e., systemic atrioventricular) regurgitation (TR). RESULTS: Both CHF and systemic ventricular dysfunction were common in groups with or without associated cardiac lesions. By age 45, 67% of patients with associated lesions had CHF, and 25% of patients without associated lesions had this complication. The rates of systemic ventricular dysfunction and CHF were higher with increasing age, the presence of significant associated cardiac lesions, history of arrhythmia, pacemaker implantation, prior surgery of any type, and particularly with tricuspid valvuloplasty or replacement. Aortic regurgitation (a previously unreported problem) was also relatively common in this patient population. CONCLUSIONS: Patients with CCTGA are increasingly subject to CHF with advancing age; this complication is extremely common by the fourth and fifth decades. Tricuspid (systemic atrioventricular) valvular regurgitation is strongly associated with RV (anatomical right ventricle connected to aorta in CCTGA patients; systemic ventricle in CCTGA) dysfunction and CHF; whether it is causative or a secondary complication remains speculative.

Eisenmenger syndrome in adults: ventricular septal defect, truncus arteriosus, univentricular heart.

OBJECTIVES: Morbidity and mortality patterns were characterized in adults with the Eisenmenger syndrome when two ventricles with a ventricular septal defect (VSD) joined two great arteries or one great artery, or when one ventricle joined two great arteries. BACKGROUND: Although afterload in these disorders differs, clinical differences have not been defined. METHODS: Seventy-seven patients were studied. Group A comprised 47 patients with VSD, aged 23 to 69 years (mean 39.5+/-10.2), follow-up 5 to 18 years (mean 7.2+/-4.9); group B, 14 patients with truncus arteriosus, aged 27 to 50 years (mean 33.7+/-7.3), follow-up 6 to 18 years (mean 7.7+/-5.1), and group C, 16 patients with univentricular heart, aged 18 to 44 years (mean 30.6+/-8.4), follow-up 5 to 15 years (mean 4.4+/-4.2). Echocardiography established the diagnoses and anatomic and hemodynamic features. Data were compiled on tachyarrhythmias, pregnancy, infective endocarditis, noncardiac surgery and the multisystem disorders of cyanotic adults. RESULTS: Thirty-five percent of the patients died. Sixty-three percent of deaths were sudden, and resulted from intrapulmonary hemorrhage, rupture of either the pulmonary trunk, ascending aorta or a bronchial artery, or vasospastic cerebral infarction, or the cause was unestablished. There were no documented tachyarrhythmic sudden deaths. CONCLUSIONS: Medical management of coexisting cardiac disease, multisystem systemic disorders, noncardiac surgery and pregnancy has reduced morbidity. Increased longevity exposed patients to proximal pulmonary arterial aneurysms, thromboses and calcification; to truncal valve stenosis and regurgitation; to semilunar and atrioventricular valve regurgitation, and to major risks of nontachyarrhythmic sudden death.

Are high-velocity tricuspid and pulmonary regurgitation endocarditis risk substrates?

BACKGROUND: A major predisposing cause of infective endocarditis is a susceptible cardiac substrate characterized by high-velocity turbulent flow. However, the risk incurred by high-pressure, high-velocity regurgitation across inherently normal pulmonary and tricuspid valves has not hitherto been examined. METHODS AND RESULTS: This study focused on 186 adult patients with congenital heart disease who had pulmonary vascular disease and inherently normal right-sided pulmonary and tricuspid valves. The observation period was approximately 1646 patient-years. Exclusion criteria were coexisting lesions that might have served as independent risk substrates for infective endocarditis. High-velocity turbulent pulmonary and tricuspid regurgitation were identified and quantified by color flow imaging and continuous wave Doppler echocardiography. Diagnoses of infective endocarditis were based on established clinical and laboratory criteria. Tricuspid regurgitation was moderate to severe in 80 patients and mild or absent in 106 patients. Pulmonary regurgitation was moderate to severe in 84 patients and mild or absent in 102 patients. With the exception of a single habitual intravenous drug abuser, no patient, irrespective of the degree of high-velocity turbulent pulmonary or tricuspid regurgitation, had infective endocarditis. CONCLUSIONS: High-velocity turbulent flow across inherently normal pulmonary and tricuspid valves rendered incompetent by pulmonary hypertension may represent a relatively low-risk or no-risk substrate for infective endocarditis.

The Fontan procedure in adults.

BACKGROUND: A retrospective clinical study was performed to document the course of adult patients undergoing the Fontan procedure. METHODS: Between 1982 and 1994, 21 adults aged 18 to 40 years (mean age, 27 +/- 7 years) underwent a Fontan procedure. Anatomic diagnosis was tricuspid atresia in 9, double-inlet left ventricle in 4, and various single ventricles in 8. Four underwent a right atria-right ventricle connection, 13 had a right atria-pulmonary artery connection, and 4 had a lateral-tunnel Fontan. Three of these 4 had a snare-adjustable atrial septal defect. Preoperative risk factors assessed were left ventricular end-diastolic pressure greater than 10 mm Hg, ejection fraction lower than 0.45, mean pulmonary artery pressure higher than 15 mm Hg, transpulmonary gradient greater than 10 mm Hg, pulmonary artery abnormalities, and atrioventricular valve regurgitation. Mean preoperative risk score was 1.6 /-1.1. Mean New York Heart Association class was 2.6 +/- 0.5. RESULTS: The operative mortality rate was 5% (1/21). Six patients (30%) had a major complication, four being prolonged effusions. One patient was lost to follow-up; the remaining 20 have been followed for a mean of 7.4 +/- 3.8 years. At follow-up, mean New York Heart Association class was 1.7 +/- 0.5. There has been one late death (5%) at 9 2/3 years, which was probably due to ventricular arrhythmia. Three patients (16%) have required and survived reoperation. During follow-up, 7 patients (37%) have had development of atrial arrhythmias requiring medication, and 2 have been treated for ventricular arrhythmias. CONCLUSIONS: These results indicate that properly selected adults can undergo the Fontan procedure with low morbidity and mortality. However, late-developing arrhythmias, need for reoperation, and decreasing ventricular function are serious problems that mandate careful follow-up.

Congenital heart disease in adults--collaboration between pediatric and medical cardiologists.

Congenital heart disease in adults has become a special area of cardiovascular interest, but remains a relatively unfamiliar discipline. Advances in diagnostic and surgical techniques have had a striking impact on longevity in infants and children with congenital heart disease. Nevertheless, since true cures are rare, long-term care is obligatory for most if not all patients. In parallel with diagnostic and surgical developments, advances in medical management have had a major impact on life span in both postoperative and unoperated patients. Who will assume responsibility for the long-term care of these adult patients? Relatively few medical cardiologists are equipped to do so and relatively few pediatric cardiologists are sufficiently well versed with the accrued problems of aging. Accordingly, the current approach involves collaboration between pediatric and medical cardiologists. The purpose of this report is to underscore the importance of this collaboration, and to focus on 2 particular issues-the management of cyanotic congenital heart disease and the management of congenital heart disease and pregnancy.

Anomalous origin of the left main pulmonary artery from the ascending aorta associated with DiGeorge syndrome.

We place on record 2 infants with the DiGeorge syndrome and anomalous origin of the left pulmonary artery from the ascending aorta. We postulate that: (1) embryogenesis of anomalous origin of the left pulmonary artery from the ascending aorta might be due to the persistent fifth aortic arch connecting both arterial systems; (2) an anomalous pulmonary artery arising from the ascending aorta is part of the aortic arch abnormality accompanied by normal conotruncal septation; and (3) in the DiGeorge syndrome, cardiac anomalies that originate from the conotruncus or aortic arch, or both, may have the same embryologic mechanisms.

Myocardial myotonia in myotonic muscular dystrophy.

We sought to determine whether and to what degree myocardial myotonia might occur in myotonic muscular dystrophy. Cardiac involvement manifests itself chiefly as abnormalities of specialized tissues. Current echocardiographic techniques permit assessment of left ventricular diastolic filling properties and might detect subtle myocardial myotonia. Twenty patients (mean age 37 +/- 13 years) with myotonic muscular dystrophy were studied. Twenty normal subjects (mean age 34 +/- 12 years), served as controls. Each subject had two-dimensional targeted M-mode echocardiograms of the posterior left ventricular wall to measure the rate of early diastolic relaxation, which was defined as diastolic endocardial velocity maximum (DEVM). Global left ventricular function was quantified. Doppler recordings of mitral inflow measured peak E and A velocities, ratio of E to A (E/A), mitral deceleration time (DT) and isovolumic relaxation (IVR) time. Normal controls had DEVM = 19 +/- 3 cm/sec, IVR = 72 +/- 7 msec, E/A = 1.6 +/- 0.5, and DT = 193 +/- 18 msec. Two SDs below the mean normal DEVM was 13.3 cm/sec. Two patient groups emerged: group A (10 patients) had abnormally slow DEVM (< or = 13.2 cm/sec) and group B (10 patients) had normal DEVM (> 13.2 cm/sec) with DEVM = 11 +/- 2 cm/sec and 20 +/- 4 cm/sec, respectively. Mitral inflow parameters showed a longer DT and IVR, with lower E/A ratios for group A versus group B, with DT = 203 +/- 48 msec and 175 +/- 21 msec, IVR = 87 +/- 15 msec and 74 +/- 7 msec, E/A = 1.7 +/- 0.7 and 2.3 +/- 0.9, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)

Menstrual patterns in women with congenital heart disease.

To examine the extent to which congenital heart disease (CHD) influences ovarian function, 98 women (mean age 32.7 years) were asked to complete a mailed questionnaire regarding their menstrual patterns. Patients were divided into acyanotic (60%) and cyanotic (38.8%) groups. Cycle lengths, duration of menstrual cycle, regularity of menses, amount of flow, and breakthrough bleeding were compared in these two groups and against age-matched controls. The mean age of menarche for the sample (13.4 years) was significantly different (p < 0.004) when compared to their controls (12.5 years). With the exception of breakthrough bleeding, statistical differences were not found between the study population and the controls. When the menstrual histories of cyanotic women were compared with those of acyanotic women, differences were found for all categories of menstrual patterns with the exception of the amount of menstrual flow. Menstrual patterns of cyanotic women compared to controls were found to be significantly different for all categories with the exception of amount of flow. In general, women with CHD have menstrual patterns similar to those in the general population.

Congenital heart disease and pregnancy.

In Europe and North America, a dramatic fall in the incidence of rheumatic fever and rheumatic heart disease has coincided with advances in medical and surgical management of congenital heart disease and has resulted in a shift in the relative incidence of these two categories of cardiac disorders in women of child-bearing age. This review deals with pregnancy and congenital heart disease--unoperated and operated. Central to this topic is the intricate interplay between maternal circulatory and respiratory physiology and maternal congenital heart disease, and the effects of this interplay upon the fetus which is exposed to risks that threaten its intrauterine viability and to risks that subsequently express themselves as developmental defects or transmitted congenital malformations of the heart or circulation.