Physical exercise in young patients with congenital heart disease.

The aim of this paper is to clarify two important aspects about patients affected by congenital heart disease. Their functional status plays a dominant role in the definition of quality of life related to health status, because of its implication in working and recreational activities. In the first part, we explain their cardiovascular adaptation on exercise, based on pathology (Tetralogy of Fallot, transposition of great arteries, univentricular heart). In the second part, we explain the risk of sudden death from congenital heart disease due to exercise, because of electrical cardiac instability and/or the structural abnormalities of the cardiovascular parietal walls.

ADQI 7: the clinical management of the Cardio-Renal syndromes: work group statements from the 7th ADQI consensus conference.

Many patients with heart failure have underlying renal dysfunction, and similarly, patients with kidney failure are prone to cardiac failure. This has led to the concept of cardio-renal syndromes, which can be an acute or chronic cardio-renal syndrome, when cardiac failure causes deterioration in renal function, or acute and/or chronic Reno-Cardiac syndrome, when renal dysfunction leads to cardiac failure. Patients who develop these syndromes have increased risk of hospital admission and mortality. Although there are clinical guidelines for managing both heart failure and chronic kidney disease, there are no agreed guidelines for managing patients with cardio-renal and/or Reno-Cardiac syndromes, as these patients have typically been excluded from clinical trials. We have therefore reviewed the currently available published literature to outline a consensus of current best clinical practice for these patients.

Differences and similarities between arrhythmogenic right ventricular cardiomyopathy and athlete's heart adaptations.

BACKGROUND: Regular intensive physical activity is associated with non-pathological changes in cardiac morphology. Differential diagnosis with arrhythmogenic right ventricular cardiomyopathy (ARVC) constitutes a frequent problem, especially in athletes showing ventricular arrhythmias with left bundle branch block morphology. AIM OF THE STUDY: To assess the different clinical and non-invasive instrumental features of the subjects affected by ARVC and by athletes. METHODS: Three groups of subjects (40 ARVC patients, 40 athletes and 40 controls, mean age 27 (9) years) were examined with family and personal history, physical examination, 12-lead ECG, 24-h ECG, signal-averaged ECG and 2-D and Doppler echocardiography. RESULTS: 12-Lead ECG was abnormal in 62% of ARVC patients versus 7.5% of athletes and 2.5% of controls (p<0.0001). Ventricular arrhythmias and late potentials were present in 70% and 55% of ARVC subjects, respectively (vs 5% of athletes and 7.5% of controls, p<0.0001). Left ventricular parietal wall thickness and left ventricular end-diastolic diameters were significantly higher in athletes. Both athletes and ARVC patients presented a right ventricular (RV) enlargement compared with controls. Moreover, RV outflow tract, measured on parasternal long axis and at the level of aortic root, was significantly larger in ARVC patients (33.6 (4.7) mm vs 29.1 (3.4) mm and 35.6 (6.8) mm vs 30.1 (2.9) mm; p<0.0001), and RV fractional shortening and ejection fraction were significantly lower in ARVC patients compared with athletes (40 (7.9)% vs 44 (10)%; p=0.05 and 52.9 (8)% vs 59.9 (4.5)%; p<0.0001). A thickened moderator band was found to be present in similar percentage in ARVC patients and athletes. CONCLUSIONS: An accurate clinical and instrumental non-invasive evaluation including echocardiography as imaging technique allows to distinguish RV alterations typical of ARVC from those detected in athletes as a consequence of intensive physical activity.

Arrhythmogenic right ventricular cardiomyopathy in young versus adult patients: similarities and differences.

OBJECTIVES: This study was designed to evaluate and compare the patterns of arrhythmogenic right ventricular cardiomyopathy in young people and adults. BACKGROUND: Few data are available on this cardiomyopathy in young people because clinical and morphologic findings considered pathognomonic are normally based on observations in adults. However, a familial occurrence with a probable genetic transmission led to the study of children and to early detection of this disease, in which sudden death has been reported even in young people. METHODS: Seventeen young patients with arrhythmogenic right ventricular cardiomyopathy diagnosed at a mean age +/- SD of 14.9 +/- 4.9 years were studied. Clinical, electrocardiographic, echocardiographic, cineangiographic and biopsy findings were compared with those of 19 adult patients whose condition was diagnosed at a mean age of 38.1 +/- 13.4 years. RESULTS: Syncope occurred in 23.5% of the young patients but in none of the adults (odds ratio of familial sudden death 5.54, p = 0.1). Ventricular couplets (odds ratio 16.0, p = 0.004) and subtricuspid bulging on echocardiography (odds ratio 5.95, p = 0.036) were prevalent in the young group. Cineangiographic data in the two groups were similar, except that more hypokinetic areas were found in adults (odds ratio 4.44, p = 0.05). Morphometric analysis of biopsy sections showed a greater amount of fibrous tissue in the young patients (p = 0.04) and a prevalence of fatty tissue in the adults (odds ratio 12, p = 0.005). During an equivalent follow-up time (mean 7 years), two young patients died suddenly, and two had ventricular fibrillation in the absence of antiarrhythmic therapy. CONCLUSIONS: The pathognomonic criteria for the diagnosis of arrhythmogenic right ventricular cardiomyopathy in adults are also valid for young people. Sudden or aborted death occurred frequently in young untreated patients.

Adrenergic nervous activity in patients after surgical correction of tetralogy of Fallot.

OBJECTIVES: The study was done to define the role of the autonomic nervous system in postoperative tetralogy of Fallot. BACKGROUND: Subsequent to surgical correction of tetralogy of Fallot, patients are at long-term risk of sudden death owing to ventricular electrical instability. The status of the sympathetic nervous system in these patients, known to play an important role in other patients at risk, remains unknown. METHODS: We used (123)I metaiodobenzylguanidine (MIBG) with tomographic imaging, combined with assessment of heart rate variability (HRV), to evaluate the activity of the sympathetic nervous system. We analyzed 22 patients who had undergone total correction of tetralogy of Fallot: 13 with either no or minor ventricular arrhythmias, and 9 with sustained ventricular tachycardia or ventricular fibrillation. RESULTS: Analysis of HRV revealed a reduction in vagal control and sympathetic dominance in all patients compared with a healthy control group of 20 subjects. A significant difference was found in the standard deviation of all the adjacent intervals between normal beats (SDNN) in patients with or without severe ventricular arrhythmias. A significant reduction in uptake of (123)I MIBG was demonstrated 30 min after IV injection, and a trend toward reduction after 5 h, associated with reduced washout indices. These data reflect a decrease in the number of nerve endings in the right and left ventricular walls, and an inhomogeneous distribution of the adrenergic nervous system. The uptake of MIBG was significantly reduced in the patients at risk of ventricular tachycardia or fibrillation. CONCLUSIONS: Subsequent to surgical correction of tetralogy of Fallot, the positive correlation between myocardial uptake of MIBG, SDNN and the QRS dispersion confirmed the usefulness of analysis of the adrenergic nervous system to stratify patients at risk of life-threatening arrhythmias.

Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy.

OBJECTIVES: We sought to define the clinical picture and natural history of familial arrhythmogenic right ventricular cardiomyopathy (ARVC). BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy is a myocardial disease, often familial, clinically characterized by the impending risk of ventricular arrhythmias and sudden death. METHODS: Thirty-seven ARVC families of northeast Italy were studied. Probands had a histologic diagnosis of ARVC, either at autopsy (19 families) or endomyocardial biopsy (18 families). Protocol of the investigation included basal electrocardiogram (ECG), 24-hour ECG, signal-averaged ECG, stress test and two-dimensional Doppler echocardiography. Invasive evaluation was performed when deemed necessary. RESULTS: Of the 365 subjects, 151 (41%) were affected, 157 (43%) were unaffected, 17 (5%) were healthy carriers, and 40 (11%) were uncertain. Mean age at diagnosis was 31+/-13 years. By echocardiography, 64% had mild, 30% had moderate, and 6% had severe form. Forty percent had ventricular arrhythmias, 49 were treated with antiarrhythmic drugs, and two were treated with implantable cardioverter defibrillators. Sport activity was restricted in all. Of the 28 families who underwent linkage analysis, 6 mapped to chromosome 14q23-q24, 4 to 1q42-q43, and 4 to 2q32.1-q32.3. No linkage with known loci was found in four families and 10 had uninformative results. During a follow-up of 8.5+/-4.6 years, one patient died (0.08 patient/year mortality), and 15 developed an overt form of ARVC. CONCLUSIONS: Arrhythmogenic right ventricular cardiomyopathy is a progressive disease appearing during adolescence and early adulthood. Systematic evaluation of family members leads to early identification of ARVC, characterized by a broad clinical spectrum with a favorable outcome. In the setting of positive family history, even minor ECG and echocardiographic abnormalities are diagnostic.

Familial occurrence of right ventricular dysplasia: a study involving nine families.

Right ventricular pathologic involvement, with autopsy evidence of fibrous and fatty infiltration of the right ventricle, was investigated in members of families in which cases of juvenile sudden death had occurred. Seventy-two subjects from nine families were studied. Sixteen died at a young age and 56 are living. Postmortem investigation in 11 cases (mean age at death 24 years) revealed massive replacement of the right ventricular free wall by fat or fibrous tissue. In the 56 living patients clinical examination included an electrocardiogram (ECG) at rest, ambulatory ECG recording, posteroanterior and lateral chest roentgenograms, M-mode and two-dimensional echocardiograms and exercise stress tests. In 14 patients, hemodynamic, angiographic and electrophysiologic studies were also carried out; right ventricular endomyocardial biopsy was performed in four. Structural and dynamic right ventricular impairment was detected in 30 living patients (mean age 25 years), and concomitant mild left ventricular abnormalities were present in 4. In eight of the nine families studied at least two members were affected. Ventricular arrhythmias (Lown grade greater than or equal to 4a) were recorded in more than half of the cases. The data reveal that right ventricular dysplasia shows a familial clustering and causes electrical instability that may place affected subjects at risk of sudden death. The mean age of these subjects suggests that the disease is manifested at a young age with a polymorphic clinical and arrhythmic profile. Finally, because this disease is a primary disorder of the ventricular myocardium, it should be included among the cardiomyopathies.

Rhythm and conduction disturbances in isolated, congenitally corrected transposition of the great arteries.

The incidence and types of rhythm and conduction disturbances in 11 male and 6 female patients with congenitally corrected transposition of the great arteries and no other intrinsic complicating anomalies were studied. Patient age ranged from 5 to 54 years; follow-up ranged from 5 to 37 years. Surface electrocardiograms were recorded in each patient; 15 also underwent 24-hour Holter monitoring and 10 underwent electrophysiologic study. The conduction system of a 54-year-old woman who died suddenly, with complete atrioventricular (AV) block since age 30 years, was studied by serial histologic sections. Fifteen patients were asymptomatic and 2 reported repeated episodes of palpitation since childhood. Ten patients presented with a normal PR interval and 2 with first-degree AV block (12%). Five patients had complete AV block (29%), but none had had it at birth; first- and second-degree AV block preceded complete AV block in 2 patients. The morphologic pattern and duration of QRS suggested a junctional rhythm in 4 patients and an idioventricular pacemaker in 1 patient. Electrophysiologic studies confirmed that the complete AV block site was supra-Hisian in 2 patients and proximal to the His bundle bifurcation in 1 patient. However, histologic investigation disclosed fibrosis and disruption of the proximal nonbifurcating His bundle in the patient who died suddenly. In 2 patients with recurrent supraventricular tachycardia, electrophysiologic studies suggested reentry through James fibers (or dual AV nodal pathway) in 1 and the presence of a left lateral accessory AV pathway in the other. Holter monitoring showed a high incidence of ventricular arrhythmias.

Signal-averaged electrocardiography in familial form of arrhythmogenic right ventricular cardiomyopathy.

This study was performed to establish whether signal-averaged electrocardiography can aid in the diagnosis of the familial form of arrhythmogenic right ventricular cardiomyopathy in order to determine the severity of the disease and to predict ventricular arrhythmias. In arrhythmogenic right ventricular cardiomyopathy there is a fatty fibrous substitution of myocardium, which is the substrate for delayed myocardial activation; this is responsible for the abnormalities seen on the signal-averaged electrocardiogram (SAECG). Seventy-five members of 11 families, both healthy and with various forms of the disease, were studied using a signal-averaged electrocardiographic technique. Forty-seven members, 16 with a severe and 31 with a minor form of the disease, were found to be affected. Forty-three subjects had abnormal results on the SAECG; of these, 39 had the disease (100% in patients with widespread disease and 74.1% in patients with a minor form), whereas the other 4 had no sign of the disease. Only 44.1% of the subjects with an abnormal SAECG had ventricular arrhythmias, whereas 76% of the subjects with ventricular arrhythmias had an abnormal SAECG. In contrast, 90.6% of patients with an abnormal SAECG had the disease, and only subjects with arrhythmogenic right ventricular cardiomyopathy had ventricular arrhythmias. The abnormality on the SAECG appears to be correlated with the severity of the disease. Signal-averaged electrocardiography does not seem useful in diagnosing the minor forms of the disease and it does not give precise information about electrical instability in these patients.

Late potentials and ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy.

We studied 38 patients (mean age 32 +/- 14 years) with arrhythmogenic right ventricular cardiomyopathy (ARVC) to evaluate the clinical significance of histologic features on endomyocardial biopsy specimens as related to signal-averaged electrocardiography (SAECG), spontaneous ventricular arrhythmias, and hemodynamic features. Fifteen patients presented with ventricular tachycardia or fibrillation (sustained ventricular arrhythmias), 23 with other minor arrhythmias. SAECG variables and right ventricular ejection fraction (RVEF) were statistically correlated with the extent of myocardial fibrosis on biopsy in ARVC. An increased percentage of fibrous tissue (> or = 30%) was a significant univariate predictor of late potentials (p = 0.004) and reduced RVEF (p = 0.02). The 18 patients with late potentials had an increased percentage of fibrous tissue (p = 0.01), a reduced RVEF (p = 0.0004), and a higher risk for sustained ventricular arrhythmias (p = 0.05) than the 20 patients without late potentials. RVEF was the most powerful predictor of late potentials (p = 0.004) at multivariate analysis. Moreover, RVEF < or = 50% was associated with an increased risk for development of sustained ventricular arrhythmias (p = 0.02). A SAECG parameter, namely the root-mean-square voltage of the terminal 40 ms at 25 Hz, was an independent predictive factor for the occurrence of sustained ventricular arrhythmias (p = 0.02). Although fibrous tissue may contribute to delayed myocardial activation in ARVC, a reduced RVEF plays an essential role for spontaneous manifestation of sustained ventricular arrhythmias.

Diagnostic accuracy of right ventriculography in arrhythmogenic right ventricular cardiomyopathy.

Diagnostic sensitivity and specificity of cineangiography were evaluated by multivariate logistic discriminant analysis in 32 patients with arrhythmogenic right ventricular (RV) cardiomyopathy, 27 patients with biventricular dilated cardiomyopathy, 28 patients with atrial septal defect and 18 normal subjects. In patients with arrhythmogenic RV cardiomyopathy and biventricular dilated cardiomyopathy, the diagnosis was confirmed by endomyocardial biopsy. All RV values overlapped for the diagnosis of atrial septal defect and arrhythmogenic RV cardiomyopathy; overlapping extended to dilated cardiomyopathy for end-diastolic volume and infundibular dimensions. RV ejection fraction appeared reduced in all the diseases; in particular, mean values in dilated cardiomyopathy and arrhythmogenic RV cardiomyopathy were 38 and 53%, respectively (p less than 0.05). Left ventricular quantitative studies showed a significant difference between dilated and arrhythmogenic RV cardiomyopathy, both in terms of pumping indexes (mean end-diastolic volumes 180 vs 91 ml/m2 and mean ejection fraction 33 vs 60%), and indexes of contractility (stress/end-diastolic volume 3.7 vs 6.7). Multivariate analysis disclosed that transversally arranged hypertrophic trabeculae, separated by deep fissures, were associated with the highest probability of arrhythmogenic RV cardiomyopathy (p less than 0.001). Posterior subtricuspid and anterior infundibular wall bulgings were the only other independently significant variables. Coexistence of these signs was associated with 96% specificity and 87.5% sensitivity. Thus, arrhythmogenic RV cardiomyopathy presents quantitative volumetric and hemodynamic as well as qualitative features that clearly distinguish it from dilated cardiomyopathy and confirm its nosographic autonomy among the primary diseases of the myocardium.

A polymorphic form of familial arrhythmogenic right ventricular dysplasia.

Thirty-two members of a family were studied. Three of them died in their youth and had evidence of arrhythmogenic right ventricular (RV) dysplasia. The other 29 members underwent clinical examination, electrocardiography, chest x-ray and M-mode and 2-dimensional echocardiography. Fourteen patients found to have structural abnormalities of the right ventricle underwent 24-hour ambulatory electrocardiographic recording and symptom-limited bicycle stress testing. Hemodynamic and angiographic studies were performed in 6 of these patients. In this family the arrhythmogenic RV dysplasia showed a wide variation of abnormalities, ranging from mild, local alterations to generalized involvement of the right ventricle. The patients were separated into 3 groups on the basis of both the clinical profile and noninvasive/invasive studies: 3 subjects who died suddenly; 3 subjects who had severe ventricular arrhythmias; and 8 subjects in whom RV impairment was not associated with any significant arrhythmias. There was no close relation between the severity of the RV abnormality and presence of ventricular arrhythmias. The variability of the RV abnormality and the high prevalence of this condition in this family is consistent with a genetic pattern of autosomal dominance with incomplete penetrance.

Morphologic spectrum of primary restrictive cardiomyopathy.

A restrictive hemodynamic profile with left ventricular (LV) end-diastolic volume < 100 ml/m2 and LV end-diastolic pressure > 18 mm Hg, in the absence of endomyocardial, pericardial, and specific cardiomyopathy, is a peculiar feature of primary restrictive cardiomyopathy. From 1985 to 1994, 7 hearts of patients who met the above hemodynamic criteria and underwent endomyocardial biopsy because of heart failure, were studied through gross (5 cardiectomies and 2 autopsies), histologic, and electron microscopic investigations. Ages ranged from 9 to 48 years (mean age 29 +/- 13). Four patients (57%) had a positive family history: 2 for hypertrophic and 2 for restrictive cardiomyopathy. Three patterns were identified in the 7 hearts: (1) pure restrictive form in 4 cases with mass/volume ratio 1.2 +/- 0.5 g/ml, ejection fraction 58 +/- 5%, LV end-diastolic volume 67.5 +/- 12.6 ml/m2, LV end-diastolic pressure 26.7 +/- 3.5 mm Hg; (2) hypertrophic-restrictive form in 2 cases with mass/volume ratio 1.5 +/- 0.07 g/ml, ejection fraction 62 +/- 1%, LV end-diastolic volume 69 +/- 10 ml/m2, LV end-diastolic pressure 30 +/- 7 mm Hg; and (3) mildly dilated restrictive form in 1 case with mass/volume ratio 0.9 g/ml, ejection fraction 25%, LV end-diastolic volume 98 ml/m2, LV end-diastolic pressure 40 mm Hg. Histology and electron microscopy disclosed myocardial and myofibrillar disarray and endoperimysial interstitial fibrosis in each pattern. The familial forms suggest the presence of a genetic abnormality. Primary restrictive cardiomyopathy may present with or without hypertrophy and shares similar microscopic pictures with hypertrophic cardiomyopathy. The 2 entities may represent a different phenotypic expression of the same genetic disease.

Angiographic and morphologic features of the left ventricle in Ebstein's malformation.

Quantitative and qualitative cineangiographic analysis of the left ventricle (LV) was performed in 26 patients with isolated Ebstein's malformation, having a mean age of 23 +/- 17 years. Nine autopsied hearts with isolated Ebstein's malformation were submitted to morphologic and morphometric analysis. In 4 of the cases, it was possible to make a direct correlation between the angiographic data obtained during life and the autopsy findings. On the basis of the LV end-diastolic volume we identified 3 groups of patients: 7 with volume <60 ml/m2, another 7 with volume between 60 and 80 ml/m2, and 12 with volume >80 ml/m2. The LV ejection fraction was reduced in 2 patients with normal LV end-diastolic volume and in 6 with increased LV end-diastolic volume. The ratio of ventricular mass to LV end-diastolic volume was always adequate, but a reduction of the ventricular contractive performance (end-systolic pressure to end-systolic volume ratio <3 mm Hg/ml/m2) was found only in patients with a dilated left ventricle. No correlation was demonstrated between the extent of the atrialized component of the right ventricle (mean value 67 +/- 31 cm2, range 13 to 133) and the LV dimensions. All but 2 patients showed a leftward diastolic displacement of the ventricular septum, but in only 1 did this produce an elongated shape of the left ventricle. Sixteen had anomalies of LV dynamics: 10 with hypokinesia (3 of the posterior wall, 4 of the apex, 1 of the inferior wall, 1 of the septum, and 1 global), 6 with dyskinesia (1 of the posterior wall, 2 of the apex, 1 of the posterior wall and apex, 1 of the superior part of the septum, and 1 of the anterior wall), and 8 with premature diastolic distension of the anterobasal wall. Morphometric analysis produced mean values for myocytes of 59 +/- 10%, for the interstitium of 21 +/- 4%, and for fibrous tissue of 20 +/- 9% (normal 4 +/- 1%). Five autopsied hearts had a prolapsing and/or dysplastic mitral valve.

Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-43.

In the present study we report on another cause of an arrhythmia associated with familial arrhythmogenic right ventricular cardiomyopathy (ARVC), which is linked to chromosome 1q42-43. Two families with 48 subjects were studied with 12-lead electrocardiography, 24-hour ambulatory electrocardiography, chest x-ray, M-mode and 2-dimensional echocardiography, signal-averaging electrocardiography, and exercise stress testing. Six subjects also underwent right and left ventricular angiography and electrophysiologic study. An endomyocardial biopsy was performed in 1 subject. The genetic study included pedigree reconstruction and linkage analysis with polymorphic DNA markers. Five young subjects died suddenly during exercise; autopsy was performed in 3 and showed segmental fibro-fatty replacement of the right ventricle, mostly at the apex. Two of them experienced syncopal attacks during effort. Sixteen living subjects, without arrhythmias at rest had polymorphic ventricular arrhythmias during effort; ARVC was diagnosed in 15, whereas 1 did not have any demonstrable cardiac abnormality. The remaining family members were healthy and did not have arrhythmias. The linkage study assigned the disease locus to chromosome 1q42-q43, in close proximity to the alpha-actinin 2 locus (maximal lod score was 5.754 at theta = 0) with a 95% penetrance. Thus, these data suggest that effort-induced polymorphic ventricular arrhythmias and juvenile sudden death can be due to adrenergic stimulation in a particular genetic group of ARVC patients. In these cases the pathology was segmental, mostly localized to the right ventricular apex. Ventricular arrhythmias that are present in these families differ from the monomorphic ones that are usually seen in patients with ARVC.

Congenital heart disease and sudden death in the young.

Sudden death is a frequent mode of fatal outcome in cardiac disease and does not exclude young people. The aim of this investigation was to establish whether and to what extent sudden death in the young may be ascribable to the substrate of underlying congenital heart disease. Among 182 young people (< or = 35 years) who died of cardiac sudden death and underwent postmortem examination, 58 (32%) had congenital heart disease. Seven showed an intrapericardial rupture of aortic dissection, in the setting of Marfan syndrome in two, isolated bicuspid aortic valve in two, and bicuspid aortic valve and isthmic coarctation in three; all exhibited equally severe degeneration of the aortic wall. Sixteen cases had conduction system anomalies, mostly bypass tracts; 15 coronary artery anomalies (three ostial valve-like stenosis, five origin from the wrong aortic sinus, and seven deep intramyocardial course); 12 hypertrophic cardiomyopathy; five postoperative congenital heart disease including scar following ventriculotomy, conduction system injury, and defects left unrepaired; and three congenital aortic valve stenosis. One third of sudden deaths in the young was ascribable to structural defects present since birth. A large spectrum of congenital heart disease involves the risk of sudden death, but most structural defects are usually not considered to be life threatening. Some of these concealed defects are potentially detectable in life by clinical imaging techniques.

Anomalous origin of coronary arteries and risk of sudden death: a study based on an autopsy population of congenital heart disease.

Coronary arteries anomalies may be part of complex congenital malformations of the heart or be an isolated defect. In our anatomic collection of congenital heart disease, an isolated anomalous origin of coronary arteries was observed in 27 of 1,200 specimens (2.2%): left coronary artery from pulmonary trunk in five, origin from the wrong aortic sinus in 12 (both right and left coronary artery from the right sinus in four and from the left sinus in seven, left coronary artery from the posterior sinus in one), left circumflex branch from right aortic sinus or from very proximal right coronary artery in three, high takeoff of right coronary artery in three, stenosis of the coronary ostia attributable to valvelike ridge in four. In 16 (59%) patients (12 males and 4 females, age ranging from 2 months to 53 years; median, 14), the final outcome was sudden death; it occurred in all cases of left coronary artery origin from right aortic sinus, in 43% of right coronary artery origin from left aortic sinus, and in 40% of the left coronary artery from the pulmonary trunk. Sudden death was precipitated by effort in eight (50%) and was the first manifestation of the disease in eight (50%); previous symptoms consisted of recurrent syncope in four, palpitations in three, and chest pain in one. Five patients who died suddenly during effort were athletes. In conclusion, (1) more than half of our postmortem cases with anomalous origin of coronary arteries died suddenly, (2) all but two patients with sudden death had anomalous coronary artery origin from the aorta itself, (3) the fatal event was frequently precipitated by effort, (4) palpitations, syncope, and ventricular arrhythmias were the only prodromic symptoms and signs. Recognition during life of these coronary anomalies, by the use of noninvasive procedures, is mandatory to prevent the risk of sudden death and to plan surgical correction if clinically indicated.

Systemic-pulmonary arterial supply in pulmonary atresia with ventricular septal defect: postmortem angiograms and histologic survey.

Postmortem angiographic and histologic studies of the pulmonary arterial circulation were performed in a patient with pulmonary atresia and a ventricular septal defect. While the left lung was supplied by a closing ductus arteriosus, the right lung was supplied by two systemic pulmonary arteries arising from the descending aorta. The examination disclosed that systemic pulmonary arteries lead into the pulmonary vascular bed and the capillaries of the alveolar walls. According to these observations, such collateral circulation is to be considered functional. The pulmonary vascular bed, supplied by the ductus arteriosus and the stenotic systemic pulmonary artery, showed a thin muscular layer in the small arteries and arterioles. On the contrary, medial hypertrophy and severe intimal proliferation were observed in the pulmonary segments perfused by the other large unobstructed systemic pulmonary artery, thus proving that asymmetric pulmonary vascular disease may complicate the natural history of this malformation.

Repair of congenitally malformed mitral valve in children.

We report our experience with 30 children under 15 years of age treated surgically for congenital mitral valve disease from March 1972 to July 1986. Valve reconstruction was possible in 26 patients (87%), whereas in four the valve was replaced with a mechanical prosthesis. Five patients died in the hospital (16.6%), four after conservative operations and one after mitral valve replacement. There was only one late death in a child in chronic congestive heart failure. Three patients, treated conservatively, required valve replacement 2, 22, and 24 months, respectively, after the operation. Follow-up data reveal that 22 of 24 patients are asymptomatic 5 months to 15 years after operation. Two-dimensional echocardiographic studies were performed in 19 patients treated conservatively, 17 of whom are asymptomatic. Eleven of them have no signs of mitral regurgitation or stenosis, six show only mild mitral incompetence, and two have moderate mitral regurgitation or stenosis. Peak pulmonary artery pressure is within normal limits in all. Our results indicate that mitral valve reconstructive procedures for congenital valve dysplasia may be effective and reliable in children despite the frequent severity of valve malformation. Although no major prosthesis-related complications were observed in the present series, we believe that mitral valve repair should always be attempted in the pediatric population to avoid the drawbacks of the currently available prostheses.

Discrete subaortic stenosis. Operative age and gradient as predictors of late aortic valve incompetence.

Between January 1969 and May 1990, 100 patients were operated on for discrete subaortic stenosis. Three patients died in the perioperative period. Patients with intrinsic lesions, prosthetic replacement, or extensive operative remodeling of the aortic valve were excluded from the analysis. The 67 remaining patients had a median follow-up of 62 months. Preoperatively, 8 patients had aortic valve competence, 51 had mild incompetence, and 8 patients moderate aortic valve incompetence. At follow-up mild incompetence persisted in 27 and moderate incompetence in 6 patients. In 1 patient it worsened from no incompetence to mild and in another patient from mild to moderate. The probability of aortic incompetence at follow-up was significantly and simultaneously related (multivariate ordinal logistic model) to (1) older age at operation (logarithm of months, p = 0.007), (2) higher preoperative gradient (third power of milligrams of mercury, p = 0.0004), (3) preoperative cardiomegaly (p = 0.04), and (4) surgical myectomy (p = 0.002). There was an interaction between age and gradient (p = 0.03). Two nomograms are proposed as a generalizable aid to decision making. The data support the policy of early repair of subaortic stenosis.