Long‐Term prognosis in children with hypertrophic cardiomyopathy: An analysis of 37 patients aged ≤ 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

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

CARDIOLOGIA

CAP. N. 1

L'assenza delle valvole polmonari. Descrizione di quattro casi, valutazione ecocardiografica e revisione 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