A PHACES syndrome unmasked by propranolol interruption in a tetralogy of Fallot patient: case report and extensive review on new indications of beta blockers.

Infantile hemangiomas (IHs) are the most common benign tumors of infancy and usually they don't require specific therapy. In 10-20% of cases IHs are able to generate complication and medical/surgical intervention is needed. For many decades standard treatment consisted in oral or intralesional corticosteroids until Leaute-Labreze and colleagues published the first report on the efficacy of propranolol for cutaneous infantile hemangiomas in 2008. IHs can be sometimes part of complex syndrome. Here we report the case of a patient with tetralogy of Fallot operated at 5 month of age who stopped propranolol treatment for hypoxic spells and unusually developed facial and subglottic IHs configuring the diagnosis of PHACES syndrome (posterior fossa brain malformations, hemangioma, arterial anomalies, cardiac defects and/or aortic coarctation, ocular anomalies and sternal defects). To our knowledge this is the first report in the international literature of a delayed appearance of an infantile hemangioma involving the skin and the airways (PHACES syndrome). The pathophysiological explanation relies on the mechanism of action of propranolol which seems to act initially with vasoconstriction, down-regulating proangiogenetic factors and inducing endothelial cell apoptosis. Many decades since their introduction ß-blockers are useful in a growing group of diseases. The pleiotropic effect of ß-adrenoceptors antagonists is not yet deeply understood, residing in neurohormonal regulation systems and angiogenesis and proving to be an effective treatment from cardiovascular to oncological illnesses.

Recovery kinetics of oxygen uptake is abnormally prolonged in patients with Mustard/Senning repair for transposition of the great arteries.

The aim of this study was to evaluate the ability to recover from exercise in patients with a Mustard/Senning (M/S) repair for transposition of the great arteries and to identify the major determinants. A total of 40 consecutive patients with a M/S repair at a mean age of 10.0 +/- 9.8 months underwent maximal cardiopulmonary exercise testing at 19.5 +/- 11.3 years of age. Results were compared to those of a cohort of 153 healthy individuals. Decay of oxygen uptake (VO2), CO2 (VCO2), minute ventilation (VE), heart rate (HR) was calculated for the first minute of recovery. M/S patients had reduced peak VO2(22.9 +/- 7.2 vs 34.2 +/- 9.5 ml O2/kg/min, p < 0.0001) and VO2 slope (0.27 +/- 0.10 vs 0.47 +/- 0.2 L O2/min, p < 0.0001), Peak O2 pulse (p < 0.0001) and peak HR (p = 0.001) were reduced. VCO2 and VE slopes were reduced (p < 0.0001 for both), whereas HR slope was similar (p = 0.38). In M/S patients, the only independent determinants of VO2 slope during recovery were pulse O2 slope (p < 0.0001) and VCO2 slope (p < 0.0001). In M/S patients, a limited cardiopulmonary reserve affects not only maximal exercise responses but also the recovery phase. A prolonged recovery of O2 pulse and a prolonged CO2 retention with subsequent prolonged hyperpnea are the main determinants of the delayed recovery.

Midterm follow-up of the Amplatzer device in left ventricle-to-aorta conduits.

The midterm follow-up of 2 patients with left ventricle-to-aorta conduit who underwent percutaneous closure with the Amplatzer device is described. Complete occlusion was achieved immediately in 1 patient. In the other patient, a trivial residual shunt was still present after 12 months, but disappeared after 18 months. Occlusion of dysfunctional left ventricle-to-aorta conduits by the Amplatzer device is feasible, provided that enough time is allowed for complete occlusion.

Surgical treatment of secundum atrial septal defect in patients older than 50 years.

BACKGROUND: The aim of this study was to verify if surgery is beneficial for patients older than 50 years. METHODS: Sixty-five patients older than 50 years were operated for a secundum atrial septal defect between November 1974 and November 1998. Preoperative data were obtained from hospital records; postoperative data from written questionnaires or direct telephone interviews. A comparison of pre and postoperative data was possible in 53 patients. RESULTS: The operative mortality was 0%. One patient died of a thromboembolic complication 32 days after surgery. The mean follow-up was 9 +/- 6 years. After surgery, clinical improvement occurred in 22 patients (41.5%) with the majority of them (69.8%) being asymptomatic or only mildly symptomatic. The occurrence of atrial fibrillation/flutter did not decrease after surgery (39.6 vs 26.4%). A thromboembolic event occurred in 2 patients before surgery and in 2 patients postoperatively; all of them had supraventricular arrhythmias and were not taking anticoagulants. CONCLUSIONS: Surgical closure of atrial septal defects in patients older than 50 years is feasible. The mortality is low. In this age group, surgery has a beneficial effect on the clinical status of the patients but not on the occurrence of supraventricular arrhythmias that can affect morbidity and mortality in patients who are not treated with anticoagulants.

[Evaluation of cardiorespiratory function in children and adolescents with repaired tetralogy of Fallot]. / Valutazione della capacità funzionale cardiorespiratoria in bambini e giovani operati per tetralogia di Fallot.

METHODS: To evaluate the cardiopulmonary exercise response of children and youngs operated upon for Tetralogy of Fallot (ToF) and to establish possible relationship with clinical and echocardiographic parameters we studied 24 pts, 14 males and 10 females, aged 14.5 +/- years; the age at repair was 5.2 +/- years and follow-up after correction was 8.6 +/- 3.2 years. All the pts were in NYHA functional class I; 8 pts had residual hemodynamic sequelae and 3 pts were on oral treatment. Cardiopulmonary exercise response with bicycle ergometer and incremental workload (25 watts/2 minutes), respiratory gas measurement with peak oxygen consumption (peak VO2) and ventilatory anaerobic threshold (VAT), were investigated in each patient. The data obtained were compared with those of control group of 103 healthy children and adolescents (59 males, 44 females, age 12.9 +/- 2.4 years) to the purpose of statistical analysis. RESULTS: The series of operated ToF pts showed 15-20% reduction in cardio-respiratory parameters, compared to healthy controls. a) Pts operated after the age of 5 years showed a significant reduction in peak VO2 compared to those operated at an earlier age (21 +/- 3.4 vs 35.4 +/- 7.5, p = 0.001) with; b) inverse correlation between peak VO2 and age at operation (r = -0.5, p = 0.01); c) 8 pts with residual hemodynamic sequelae (pulmonary regurgitation and/or ventricular outflow obstruction) showed the worse cardio-pulmonary capacity (peak VO2 27.5 +/- 7 vs 36.1 +/-8.1, p<0.02; VAT 20.4 +/- 5.2 vs 29.5 +/- 4.4, p<0.02; d) a chronotropic limitation was also observed in the group of pts when compared to healthy controls (peak HR 177 +/- 17 vs 188 +/- 11, p<0.001). CONCLUSION: Our study on pts operated upon for ToF showed a significant relation between age at surgery, hemodynamic sequelae and cardiopulmonary exercise response. Since this study has considered pts repaired in the two past decades, we believe that the present approach to ToF with early correction through atriotomy if possible and small outflow patch, may further improve the exercise capacity at a long-term follow-up.

Interrupted aortic arch and aortopulmonary window: one-stage repair in the first week of life.

Aortic arch interruption associated with an aortopulmonary window is a rare congenital malformation that needs an early diagnosis and surgical treatment to avoid irreversible pulmonary lesions. Here we describe a case of a successful one-stage surgical repair in a 3-day-old neonate, without the use of prosthetic material, for the correction of the aortic arch interruption.

Successful surgical repair of an aortico-left ventricular tunnel in a two day old child.

Repair of an aortico-left ventricular tunnel was successfully accomplished on the second day of life in a neonate with severe cardiac failure. During pregnancy an echocardiographic diagnosis of aortic insufficiency (AI) was made and the type of the malformation was completely clarified after birth. Repair was accomplished using an open patch aortoplasty technique as suggested by Bjork.

[Percutaneous pulmonary valvuloplasty. Immediate results and a follow-up: clinical, Doppler and hemodynamic evaluation]. / Valvuloplastica polmonare percutanea. Risultati immediati e follow-up: valutazione clinica, Doppler ed emodinamica.

The purpose of this investigation was to evaluate the efficacy and follow-up results of balloon dilation angioplasty for valvular pulmonary stenosis. Percutaneous dilation was performed on 25 patients with pulmonary stenosis (aged 1 month to 69 years, mean = 15 years). In all cases, a single balloon was used. The pressure gradients across the pulmonary valve were estimated by continuous wave Doppler (CWD) and catheterization before and after dilation. The peak systolic gradients obtained by both techniques both pre- and post-angioplasty were compared. There was good linear correlation between the catheter pressure gradient and the pressure gradient estimated by Doppler (r = 0.78). The mean pre-angioplasty gradient of 82 +/- 33 mmHg (range 40-180) was reduced to 29 +/- 12 mmHg (range 17-50). The mean right ventricular systolic pressure of 110 +/- 33 mmHg decreased to 52 +/- 13 mmHg post-angioplasty. An excellent linear correlation was found between the pre-dilation gradient and the right ventricular systolic pressure drop (r = 0.94). During the procedures no complications were noted, 30 hours after dilation a 6 months old child suffered of stroke with transient hemiparesis. Follow-up pressure gradient estimations by Doppler echocardiogram were obtained in all patients between 3 months and 42 months (mean = 12.4 months); in 4 cases the catheterization was performed. Mean follow-up gradient was 33 +/- 11 mmHg (range 15-55). In a 18 months old child was detected a severe pulmonary restenosis 12 months after dilation; a second successful dilation was performed.(ABSTRACT TRUNCATED AT 250 WORDS)

Radionuclide evaluation of ventricular function at rest and during exercise in double inlet ventricle.

We studied ventricular volumes and ejection fraction by radionuclide angiography (equilibrium technique) in 15 patients (aged 3-48 years) with double inlet ventricle not yet submitted to corrective surgery. The end-diastolic volume (measured in nine cases) ranged from 108 to 219 ml/m2 (156 +/- 32), being lower than the normal theoretical value (right plus left ventricle) in six cases. Ejection fraction ranged from 30 to 77% (56.4 +/- 13). The value was significantly higher in the subgroup of 10 patients with a dominant left ventricle as compared to the five cases with dominant right or indeterminate ventricular morphology (63.2 +/- 8.3 versus 42.8 +/- 9, P less than 0.01). In seven of the 15 patients, measurements were obtained both at rest and during dynamic exercise in the semi-upright position. The end-diastolic and end-systolic volumes, stroke volume, ejection fraction underwent a slight non-significant reduction (from 158 +/- 29 to 147 +/- 24 ml/m2, from 58 +/- 16 to 56 +/- 24 ml/m2, from 100 +/- 27 to 90 +/- 24 ml/m2, from 64% +/- 9 to 61% +/- 13). During exercise, ventricular volumes mostly behaved as follows: slight reduction of end-systolic volume, decrease of end-diastolic volume, no increase (no change or decrease) of ejection fraction.(ABSTRACT TRUNCATED AT 250 WORDS)

Severe subpulmonary obstruction caused by an aneurysmal tissue tag complicating an infundibular perimembranous ventricular septal defect.

A case of severe right ventricular obstruction caused by a huge aneurysmal tissue tag is described associated with a perimembranous ventricular septal defect with an infundibular extension. Angiograms and surgical inspection clearly showed that the ventricular septal defect extended into the outlet septum. The distinctive features of this case was the severity of the gradient related to the peculiar position of the aneurysmal tissue in the outlet portion of the ventricle. We presume that such an aneurysm, however small it is, developing in association with a ventricular septal defect with an infundibular extension may be a potential cause of severe obstruction and should therefore be carefully followed in the ensuing years.

[Tetralogy of Fallot associated with total anomalous pulmonary venous drainage. Case report (author's transl)]. / Tetralogia di Fallot associata a drenaggio anomalo totale delle vene polmonari. Descrizione di un caso.

A case of a 12 year old girl who presented tetralogy of Fallot (T. o F.) associated with Total Anomalous Pulmonary Venous Drainage (TAPVD) is described. This association is extremely rare, only four autopsied cases being reported in literature. TAPVD is associated with complex cyanotic congenital heart diseases in about one third of cases; asplenia or polysplenia are generally present. Double outlet right ventricle (DORV) is the commonest trunco-conal malformation associated with TAPVD; extremely rare is T. o F. Pulmonary outflow tract obstruction can avoid the haemodynamic consequences due to obstruction on the venous channel, or progression to pulmonary hypertension. The association of the two malformations can masquerade the clinical and Xray picture of TAPVD and make difficult the diagnosis during cardiac catheterization.

[Atrioventricular canal associated with Fallot's tetralogy. Anatomo-clinical study of 2 cases]. / Canale atrio-ventricolare associato a tetralogia di Fallot. Studio anatomo-clinico su due casi.

The Authors are examing two cases of A-V canal associated with T. of Fallot. The most important clinical aspects of this rare cardiopathy result in the following: -- the frequent coexistence with Down dyndrome; -- the ECG and VCG aspects of counterclockwise rotation of the initial vectors of QRS in the frontal plane; -- the simultaneous observation of the typical echocardiographical aspects of both kinds of cardiopathy. The injection of dye into both ventricles allows the precise diagnosis. The post-mortem study in both cases shows the morphology of A-V canal associated with the one of T. of Fallot. From the surgical point of view it is important to take into account the abnormal morphology and extension of VSD. The importance of the part that the conal cushion plays in the morphogenesis of the malformation is discussed.

Safe amounts of contrast medium for angiocardiography in neonates and infants.

The results were analysed of 485 (biplane) cineangiocardiograms performed in 200 consecutive cardiac investigations on neonates (under 4 wk) and infants (4 wk to 1 yr). 10 deaths occurred during or within 24 h of cardiac catheterization, all in patients who were profoundly acidemic because of their hemodynamic disturbance. A total dose of Cardio-Conray at any one investigation of 4-5 ml/kg body weight was satisfactory and without undue risk. Single injections of 1.5-2.0 ml/kg body weight were safe whilst providing optimal diagnostic information. The interval between multiple injections did not appear to affect the risk to the patients.

[The Holt-Oram syndrome: report of a case (author's transl)]. / Sindrome di Holt-Oram. Descrizione di un caso

A case of the Holt-Oram syndrome is described, that is, the association of a skeletal anomaly of the superior limbs, with a constant involvment of the thumbs, and an ostium secundum defect with a prolonged P-R interval. The case presented has the peculiarity of being sporadic, while from the literature a familiarity is almost constant via an autosomic dominant hereditary transmission. The more common syndromes were an alteration of the superior limbs is associated with a congenital cardiopathy are schematically underlined. Finally, the embriological reasons of this not rare association are briefly discussed.