Pathology of atrioventricular valve dysplasia.

The congenital heart disease series of the Pathological Museum at La Sapienza University of Rome was revised in order to detect specimens featuring atrioventricular valve dysplasia (AVVD) in fetuses and infants. Selected for study were 67 specimens from a collection of 667 hearts: there were 36 cases of isolated tricuspid valve dysplasia (TVD), 11 cases of isolated mitral valve dysplasia (MVD), and 20 cases of combined atrioventricular valve dysplasia. All the valves were graded according to Becker's criteria, which were morphometrically validated. There is an increasing degree of dysplasia in terms of differentiation and detachment of the valve from the ventricular wall. The concept of AVVD is supported by a substantial morphologic and morphometric analogy between TVD and MVD, in spite of some peculiarities of each grade and of side-specific anomalies ("mitral arcade" on the left side and grade III dysplasia on the right one), probably attributable to differences in the embryonic development of the two valves. AVVD is sometimes associated with dysplasia of the semilunar valves, in the setting of a polyvalvular disease of possible genetic origin. More often it is combined with other defects that cause ventricular overload. In such cases, AVVD usually occurs within the overloaded cardiac section, as if it were a result of mechanical stress.

Peculiarities of prevalence and morphology of congenital heart disease detected in utero.

Intrauterine echocardiography is changing our knowledge of congenital heart disease; cardiac defects diagnosed in utero have distinctive features of both prevalence and morphology when compared with those observed just after birth. We reviewed a series of 171 fetal heart conditions: 148 were diagnosed at intrauterine echocardiography, the diagnosis being verified at autopsy in 41, and 23 were observed at the postmortem only. Peculiarities of prevalence consisted in an excess of various defects, such as hypoplastic left heart syndrome, atrial isomerism, pulmonary atresia, and atrioventricular and atrial septal defects, and in a reduced number of completely different conditions, such as transposition of great arteries and aortic coarctation. Differences in prevalence have been attributed to difficulties in diagnosing some particular anomalies in utero, to the selection of pregnancies undergoing screening, and to the special intrauterine evidence of some heart defects. Peculiarities in morphology result from the coexistence with extracardiac malformations, from the changes in shape conditioned by fetal hemodynamics, and from the intrauterine evolution of the morphology of some malformations. We concluded that the knowledge of these characteristic traits was helpful to cardiac pathologists, pediatric cardiologists, and obstetricians, and allowed the re-evaluation of the role of hemodynamic factors in remodeling the malformed cardiovascular appara-tus.

Long-term prognosis in children with hypertrophic cardiomyopathy: an analysis of 37 patients aged less than or equal to 14 years at diagnosis.

The relation of clinical, electrocardiographic, and hemodynamic findings at diagnosis to presenting features and prognosis of hypertrophic cardiomyopathy in childhood was evaluated in 37 consecutive patients below 14 years of age at time of diagnosis (24 males and 13 females, mean age 7 +/- 4 years). A left ventricular out-flow tract gradient (mean 42 +/- 27 mmHg) was detected at cardiac catheterization in 13 (35%) patients. Clinical, electrocardiographic, and hemodynamic features in patients with and without a pressure gradient were similar. Patients who had moderate to severe functional limitation had a higher incidence of syncopal episodes (p less than 0.001), lower ejection fraction (p less than 0.01), raised pulmonary artery pressure (p less than 0.001), and left ventricular end-diastolic pressure (p less than 0.01). During a follow-up of 9.2 +/- 5.1 years (range 2-18), 9 (24%) patients died suddenly (2 with a recorded left ventricular outflow tract gradient). Univariate analysis showed that reduced ejection fraction (p = 0.0001), syncopal episodes (p = 0.003), increased left ventricular end-diastolic pressure (p = 0.03), and severe dyspnea (p = 0.04) were associated with a poor prognosis. However, multivariate analysis revealed ejection fraction (p = 0.0001) and syncopal episodes (p = 0.0097) as independent predictors of survival. In conclusion, sudden cardiac death was common and was well predicted by the combination of left ventricular dysfunction and syncope at time of diagnosis.

Left ventricular outflow tract obstruction in atrioventricular septal defects: a pathologic and morphometric evaluation.

Subaortic stenosis has been described with increasing frequency as an ominous feature of atrioventricular septal defect (AVSD), especially following surgical correction of the anomaly in non-Down's syndrome patients. In order to study the surgical anatomy of the left ventricular outflow tract in this malformation, 48 hearts featuring AVSD were examined. Obstructive lesions were classified into unequivocal forms (class A, 13.5%) and potential ones (class B, 10.8%). In the remaining hearts (class C, 75.7%) no obstruction was noted. In class A, subaortic stenosis was due to exaggeration of the anticipated anomalous arrangement of atrioventricular valve tensor apparatus, to the persistence of a subaortic muscular infundibulum, and to a discrete fibrous diaphragm. A potential for subaortic stenosis is provided by the unwedged position of the aortic valve. The left ventricular outflow tract is transformed into a long, forward-displaced fibromuscular channel. Morphometric analysis showed in AVSD (with both common annulus and separate orifices) a significantly (p less than 0.01) lower inflow/outflow tract ratio, and a significantly (p less than 0.01) lower right ventricular/left ventricular outflow length ratio than normal hearts. These results suggest that AVSD is characterized not only, as commonly stated, by inflow tract shortening, but by outflow tract lengthening as well. On these anatomical grounds, nearly all cases of AVSD could harbor the potential for subaortic stenosis; however, this becomes a real hazard (class B) only when associated with forward displacement of the left anterior papillary muscle, or direct insertion on the ventricular septum of the anterior bridging leaflet, and it may be converted to an actual obstruction by the effects of surgery.(ABSTRACT TRUNCATED AT 250 WORDS)

Myocardial scintigraphy with 99mTc-sestamibi in children with Kawasaki disease.

Kawasaki disease (KD) is a systemic vasculitis syndrome of early childhood. It involves particularly the coronary arteries and may cause aneurysms and thrombotic occlusions. Echocardiography is the most useful method of detecting coronary aneurysms. Nevertheless, obstructive lesions are difficult to evaluate and often need invasive coronary angiography. An important feature of this disease is the possibility of finding coronary pathology several years after the onset. This characteristic makes KD an important cause of coronary artery disease (CAD) in young adults. Thus patients with KD and previously diseased coronary arteries should be kept under long-term control. However, coronary angiography is invasive and cannot be performed repeatedly, especially in young patients. As an alternative, thallium 201 scintigraphy has been employed, but its low-energy photons are suboptimal for standard gamma-camera imaging, particularly in children aged less than three years. To verify the usefulness of a noninvasive assessment of myocardial perfusion, the authors used rest and dipyridamole 99mTc-Sestamibi scan in 15 children (ranging from one to six years of age) with Kawasaki's cardiac involvement. Coronary aneurysms have been demonstrated by echocardiography in 12 patients; 8 patients were also submitted to cardiac catheterization. The sensitivity of 99mTc-Sestamibi imaging for detection of overall coronary lesions was 88% and the specificity was 93%. These data suggest that rest/dipyridamole 99mTc-Sestamibi scintigraphy is an accurate and noninvasive method for the detection and follow-up of Kawasaki's cardiac damage even in patients aged one year.

Regression of post-Fontan protein-losing enteropathy. After surgical correction of hemodynamic faults other than high right atrial pressure.

We describe a case of protein-losing enteropathy after a Fontan operation, in the absence of high right atrial pressure. Although partial regression of protein-losing enteropathy was obtained with high doses of cortisone, complete resolution of the phenomenon was accomplished only after surgical closure of a left-to-right shunt through the pulmonary valve.

Holoprosencephalic disorders. Case report of a semilobar type.

A child with microcephaly, facial dysmorphisms, seizures, and congenital cardiopathy is presented. On the basis of skull x-rays, electroencephalogram, transillumination of the head, and computed tomography (CT) scan, the diagnosis of semilobar holoprosencephaly was made. The heterogeneous etiology of the disorder is discussed in order to evaluate the recurrence risk. The usefulness of CT scan for the classification in the different types of holoprosencephaly is stressed.

[Prevalence of congenital cardiopathies among newborn infants in a department of pediatric cardiology]. / Prevalenza delle cardiopatie congenite in età neonatale in un reparto di cardiologia pediatrica.

This study consists of a prevalence congenital heart disease (CHD) registered in the Pediatric Cardiology Department of Umberto I General Hospital in Rome between January 1st 1992 and December 31-th 1993. Cases recorded in this period have been taken part of a larger study called Italian Multicentric Study for recording and follow-up of congenital heart disease (IMS-CHD); the purpose is to determine the prevalence of CHD in Italy and discover the outcome of affected children. In this duration, 187 new cases have been recorded, in which 63.6% had a single defect while 36.4% had multiple defects. These isolated defects were most frequently occurred (51.9%) following the stenosis of the pulmonary artery (15.5% and the defects of the interatrial septum (15%).

[Autonomic neuropathy in type I diabetes in children]. / Neuropatia autonomica nel diabete tipo I in età pediatrica.

We tested some cardiovascular reflexes (Valsalva ratio, deep-breathing, postural hypotension) in 53 subjects suffering from diabetes type I in childhood with an average disease length of 13 +/- 6 years, in order to estimate possible damage to the autonomic nervous system without clinical symptomatology. A rather high percentage of signs of neurovegetative involvement combined with the progressive increase of further complications during the course of the disease, suggests early neurologic damage. We confirm the sensitivity of adopted tests and deep-breathing in particular.

[Cardiac arrhythmias and mitral valve prolapse in childhood. Therapeutic considerations]. / Aritmie cardiache e prolasso della mitrale nell'infanzia. Considerazioni terapeutiche.

Our report concerns 18 cases of mitral valve prolapse, all documented by M-mode and D2-mode echocardiographic study. Of these patients three presented severe cardiac arrhythmias and therefore therapeutic treatment was necessary. One of them presented repeated episodes of paroxysmal supraventricular tachycardia and premature supraventricular and ventricular contractions. In another the arrhythmia consisted of numerous ventricular premature contractions. The third presented a sinus tachycardia which necessitated pharmacological treatment. In this study we have examined several forms of arrhythmias associated with mitral valve prolapse and discussed the antiarrhythmic therapy with quinidine, verapamil, amiodarone and propranolol. Since most people with mitral valve prolapse are young, arrhythmia suppression therapy might subject them to a course of treatment for possibly several decades. Therefore, the physician must weigh the risk of antiarrhythmic therapy against the risk of morbidity without therapy in each individual patient.

[Cardiologic aspects of Kawasaki's disease]. / Aspetti cardiologici della malattia di Kawasaki.

Both immediate and long-term prognosis of Kawasaki's disease (K. D.) are due to cardiac involvement and, particularly, to coronary artery aneurysms formation. Of 19 cases that we studied, age ranging between 7 months and 8 years, 18 has been followed clinically and with echocardiographic procedure. In 1 case (10 years old), which underwent a triple bypass surgical operation due to the presence of multiple aneurysms, diagnosis was made retrospectively. In 2 of 19 cases (10.52%) coronary artery aneurysms were present. One case showed aneurysm's partial regression two years later. In 10 of 18 cases (55.5%) clinical evidence of cardiac compromise was present, whereas in no patient ECG alterations occurred at all. Our data prove the poor benefit of clinical approach and ECG interpretation in K. D., whereas we believe that echocardiographic study is the best method in early identification of aneurysms.

[Morpho-functional assessment of endocardial cushion defect by single crystal and two-dimensional echocardiography (author's transl)]. / Valutazione morfo-funzionale del difetto dei cuscinetti endocardici mediante ecocardiografia ad elemento di cristallo singolo e bidimensionale.

24 patients with various forms of endocardial cushion defect, ranging in age from 8 months to 22 years, were studied by single crystal (M-mode) and two-dimensional (2-D) echocardiography. In all of them diagnosis was confirmed by cardiac catheterization and angiocardiography, in 8 of them at surgery and in 3 of them at autopsy. From the morphologic point of view, 2-D echocardiography appeared to integrate M-mode recording in the structural definition of atrioventricular valves and in a better differentiation of complete atrioventricular canal. M-mode scanning right atrium-left ventricle, transverse projection by multiscan and long-axis and apical projections by sector-scanner were the most diagnostic projections. From the functional point of view, in patients with complete right bundle branch block (QRS greater than 120 msec), right ventricular isovolumetric contraction time appeared an useful alternative of sysn three patients, in whom these parameters couldn't be used, a qualitative judgement was possible on the basis of the absence of a wave and the presence of a midsystolic closure of pulmonary valve.

[The echocardiographic study in congenital valvular aortic stenosis (author's transl)]. / L'esame ecocardiografico nella stenosi aortica congenita valvolare.

Echocardiographic studies were performed in 15 patients, aged 8 months to 20 years, with congenital valvular aortic stenosis confirmed by hemodynamic findings. Seven patients showed an anomalous pattern of the valvular echo in diastole (multiple valve echoes), seven exhibited an eccentric closure, and only in two patients the area was significantly reduced in systole. Therefore aortic valve diastolic pattern was more important than systolic appearance in the echocardiografic diagnosis of congenital valvular aortic stenosis. In all cases a correlation was found between the left ventricular pressure obtained with this non invasive method and the pressure measured in the left ventricle at the cardiac catheterization (p less than 0.001).

Non-Ebstein concomitant dysplasia of tricuspid and mitral valves in newborns.

This paper describes 2 cases of tricuspid valvular dysplasia (TVD) associated with aortic stenosis and mitral incompetence in newborns. Mitral regurgitation was due to dysplasia, which resembles its tricuspid counterpart and should be termed 'mitral valve dysplasia'. This association of tricuspid and mitral valve dysplasia has been reported only once before. The concomitance of mitral and tricuspid incompetence is noteworthy, since mitral regurgitation can produce left heart failure and mask tricuspid valve disease.

Double right tracheal bronchus. A case report in an infant.

An apparently unique case of double right tracheal bronchus supplying the whole right upper lobe is described in a 12-month-old infant presenting with a right paratracheal opacity, persisting cough, and ventricular septal defect. The two tracheal bronchi, initially discovered on tomography, were confirmed by tracheobronchography, which demonstrated also the absence of other upper lobe branches. At surgery, the upper lobe was atelectatic, and its blood supply was abnormal.

[Absent pulmonary valve. Report of 4 cases, echocardiographic assessment and review of the literature (author's transl)]. / L'assenza delle valvole polmonari. Descrizione di quattro casi, valutazione ecocardiografica e rivisione della letteratura.

Four cases of "absent pulmonary valve" (APV) are described. This congenital heart disease consists of aplasia or extreme hypoplasia of pulmonary semilunar cusps and is always combined with aneurysmatic dilatation of pulmonary artery. In two of them the diagnosis was confirmed at autopsy. The remaining two are clinical reports surgically confirmed. One of them was studied by single cristal and two-dimensional echocardiography. In three cases APV was associated with tetralogy of Fallot, while in one case there was an intact ventricular septum. Review of literature allowed us to select 149 cases of APV anatomically confirmed, besides our ownes. It is stressed on that APV is usually associated with dextroposition of the aorta and ventricular septal defect by conoventricular malallignment. It is suggested that pathogenesis of this malformation is a consequence of an anomalous development of mesenchimal tissue of pulmonary cusps rather than an asymmetrical truncal sepimentation. We favour the hypothesis that aneurysmatic dilatation of pulmonary artery is caused by altered hemodynamics acting both in foetal and extrauterine life, even if differently expressed. Pathophysiologic and diagnostic value of cyanosis, dyspnea, and systo-diastolic murmur are discussed. Some outlines of the most important diagnostic procedures are reviewed and particularly echocardiography, which shows aortic overriding and dilatation of right ventricular outflow tract and pulmonary artery separated by a restricted pulmonary annulus. Prognosis and therapy are also mentioned.

[The diagnostic and therapeutic utility of adenosine triphosphate in supraventricular tachyarrhythmias in childhood]. / Utilità diagnostica e terapeutica dell'adenosina-trifosfato nelle tachiaritmie sopraventricolari dell'età pediatrica.

The diagnostic and therapeutic utility of adenosine triphosphate (ATP) in pediatric age was investigated in fifteen children aged 4 days-16 years (mean age 6.4 years) observed for paroxysmal (Group A-9 pts) or incessant (Group B-6 pts) tachycardia. Twelve patients underwent transesophageal electrophysiological study. ATP was given as an intravenous bolus (0.075-0.5 mg/Kg). In Group A patients, ATP resulted in termination of spontaneous or induced tachycardia, and in all cases interruption in anterograde limb of the re-entry circuit occurred. In Group B patients, ATP induced transient atrioventricular block with persistence of atrial tachycardia, suggesting the atrial origin of the arrhythmia. No adverse haemodynamic effects were observed in any patient. We conclude that in pediatric age ATP must be considered the drug of first choice for junctional reciprocating tachycardias because of its efficacy, short mid-life and insignificant side-effects. Furthermore, it represents an effective diagnostic test for differentiating between junctional reciprocating tachycardias and atrial ectopic tachycardias.

[Dysplasia of both the components of the atrioventricular valve in atrioventricular septal defects]. / Displasia di entrambe le componenti della valvola atrioventricolare nei difetti del setto atrioventricolare.

BACKGROUND: A spectrum of anomalies of the atrioventricular valves, characterised by decreasing grades of leaflet differentiation from the tension apparatus and the ventricular wall, is included under the common heading of "Atrioventricular Valve Dysplasia". This concept has been further supported by the observation that tricuspid and mitral valve dysplasia frequently occur in the same heart. Although the general features of valvular dysplasia are the same in the two atrioventricular valves, there are side-specific patterns such as grade III dysplasia (and Ebstein's anomaly as well) in the right valve and mitral arcade in the left one. CLINICAL CASE: The common nature of "Atrioventricular Valve Dysplasia" was confirmed by the observation of a newborn infant affected by atrioventricular septal defect with separate orifices. By means of both pre- and post-natal echocardiography, a diagnosis of Ebstein-like dysplasia of the right atrioventricular component, and of marked regurgitation of the left one was made. At the post-mortem examination, a diagnosis of grade III dysplasia of the right valvular component and of grade II dysplasia of the left one was confirmed. REVIEW OF THE LITERATURE: Revision of the cases of atrioventricular septal defect with Ebstein-like dysplasia of the right valvular component disclosed that regurgitation of the left component frequently occurred, and that in one instance it was so severe as to require surgery. It may be inferred that in some cases, as in the one herein reported, such regurgitation could be due to a valvular dysplasia. CONCLUSIONS: The simultaneous presence of dysplasia of both valvular components of a common atrioventricular orifice further validates the concept of "Atrioventricular Valve Dysplasia". Pediatric cardiologists observing patients with atrioventricular septal defect and Epstein-like dysplasia of the right atrioventricular component should be aware of the possibility of a pathologic change in both the valvular components and accordingly plan the correct surgical approach.