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ABSTRACT: The aim of this study is to evaluate the long-term prognosis in infants affected by paroxysmal reciprocating supraventricular tachycardia (SVT), to identify predictors of SVT disappearance, and to assess the efficacy of electrophysiologically guided drug therapy in preventing recurrences.
A six step regimen of oral therapy was used in 55 infants with SVT: (i) propafenone (P); (ii) flecainide (F); (iii) flecainide plus propranolol (FP); (iv) amiodarone (A); (v) amiodarone plus propranolol (AP); (vi) amiodarone plus flecainide plus propranolol (AFP). If one step was not successful, the patient was passed on to the next treatment step and so on. Transesophageal atrial pacing (TAP) was used to evaluate treatment efficacy and the evolution of SVT at the end of the first, second, and third year. Propafenone was successful in 32.7% of the patients, F in 14.5%, FP in 23.6%, A alone in 5.4%, and AP in 18.1%; only 7.2% reached step 6. At month 12, after therapy wash out, SVT recurred spontaneously in 2 patients (3.6%) and remained inducible in 25 (45.5%). Inducibility was significantly higher in patients treated with A. At 24 months, SVT was inducible or spontaneous in 86% of the cases and at 36 months in 87%. There were no recurrences using the treatment confirmed by TAP. No further predictor of SVT inducibility was identified.
Supraventricular tachycardia disappeared in approximately 50% of the patients during the first year of life and in another 20% thereafter. The necessity for A treatment is the only predictor of persistence of the re-entry circuit during the first year of life. Transesophageal atrial pacing is useful in guiding the medical treatment.
Europace 06/2008; 10(5):629-35. · 1.98 Impact Factor
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ABSTRACT: Genetic syndromes occur in 20% of patients with tetralogy of Fallot (TOF). The impact of genetic syndromes on surgical repair of TOF in infancy is still under investigation.
This retrospective study reviews the outcome of 306 consecutive patients (median age, 5.1 months) who underwent primary (266) or staged (40) repair of TOF between 1994 and 2004. Total follow-up was 1,188 patient-years (mean, 57 months).
Genetic syndromes were documented in 85 patients (27.8%), including 22q11 deletion (27), trisomy 21 (13), vertebral, anal, cardiac, tracheoesophageal, renal, and limb abnormalities (VACTERL, 12), and others (33). Hypoplastic pulmonary arteries (PA) were more common in syndromic (19/85 = 22.3%) than nonsyndromic TOF (20/221 = 9.04%) (p < 0.001). Primary repair was performed in 82.4% syndromic and 88.7% nonsyndromic TOF (p = not significant [NS]). Ten-year actuarial survival was 94.1 +/- 2.3% in nonsyndromic and 84.3 +/-4.2% in syndromic TOF (p < 0.001). Ten-year survival was 96.3 +/- 3.6% for del22q11, 100% for trisomy 21, 63.6 +/- 14.5% for VACTERL, and 78.5 +/- 7.3% for patients with other syndromes (p = 0.022). Survival in syndromic TOF with normal PA anatomy was 89.6 +/- 4.2% for primary repair and 85.7 +/- 12.8% for staged repair (p = NS); freedom from reoperation after complete repair was 74.4 +/- 6.4% for primary correction and 56.3 +/- 11.9% for staged repair (p = 0.04). Cox proportional hazard identified the presence of genetic syndrome (p = 0.011) and central PA hypoplasia (p = 0.002) as independent predictors of mortality.
Pulmonary arborization defects and genetic syndromes other than del22q11 or trisomy 21, are associated with worse outcome after correction of TOF. Primary TOF repair in syndromic patients with normal PA anatomy is a valid surgical strategy, with no additional risk for mortality and higher freedom from reintervention.
The Annals of thoracic surgery 03/2006; 81(3):968-75. · 3.74 Impact Factor
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ABSTRACT: The surgical outcome of conotruncal heart defects in patients with genetic syndromes has been poorly studied. The aim of this prospective 5-year multicenter study was to elucidate the post-surgical death rate of children with conotruncal heart defects in relation to the presence of associated genetic syndromes.
Two institutions enrolled 350 consecutive inpatients with conotruncal heart defects, aged between 1 day and 60 months, who were submitted to surgery; all patients were evaluated by a clinical geneticist and had a standard metaphase chromosome analysis and a fluorescent in situ hybridization study searching for deletion of chromosome 22q11 (del22q11).
No genetic syndrome was diagnosed in 289 patients; among the other 61 patients, 27 had DiGeorge velocardiofacial syndrome (del22q11), 16 patients had Down syndrome, and 18 presented with other genetic syndromes. The overall post-surgical death rate was higher in syndromic patients (18%) than in non-syndromic ones (10.7%) with a relative risk of 1.9 (p = 0.06). However, children with del22q11 showed a higher risk for surgical mortality (25.9 vs 10.7%; relative risk 2.4, p = 0.03). Del22q11 was identified as a risk factor for immediate surgical mortality in patients with pulmonary atresia and ventricular septal defect and in patients with interrupted aortic arch.
Down syndrome is not a risk factor for surgery in children with conotruncal heart defects. The presence of a del22q11 may influence the surgical results in children with pulmonary atresia and ventricular septal defect and in those with interrupted aortic arch. Patients with genetic syndromes other than del22q11 and Down syndrome have a higher surgical mortality compared to that observed in non-syndromic patients. These data may be useful for preoperative counseling and for the elaboration of specific protocols of perioperative treatment.
Italian heart journal: official journal of the Italian Federation of Cardiology 09/2004; 5(8):624-8.
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European Journal of Pediatrics 03/2002; 161(2):116-7. · 1.88 Impact Factor
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ABSTRACT: Transposition of the great arteries (TGA) is a frequent and severe cardiac defect. In patients with this malformation, diagnostic and surgical results and the long-term prognosis significantly improved in the last years. From the embryological point of view there are two main theories: 1) the anomalous infundibular rotation, and 2) the anomaly of the aortico-pulmonary septum. Both of them still present important limits. Moreover, TGA is difficult to reproduce by animal experiments, but interesting data, using retinoid acid in pregnant rats, are nowadays available, as well as there are interesting data from the epidemiologic studies on human teratologic agents. TGA is rarely associated with genetic syndromes and with additional extracardiac anomalies. A few cases are in relation with DiGeorge syndrome with deletion of chromosome 22q11. On the contrary TGA is significantly prevalent, in association with other cardiac and extracardiac anomalies, in children with lateralization defects, heterotaxy and asplenia syndrome (right isomerism). However in patients with heterotaxy and polysplenia syndrome (left isomerism) TGA is significantly more rare. In mice with mutation of Smad2 and NODAL, two genes involved in the lateralization process, some cases of TGA, with or without right isomerism of the lungs, were reported. Moreover, in families with heterotaxy some cases with congenitally corrected TGA were reported and a new gene associated with heterotaxy, CRYPTIC, can present mutations in patients with "isolated" TGA. A recent study on familiar recurrence of TGA shows in the same family some cases of TGA and of corrected TGA so that a monogenic inheritance (autosomic dominant or recessive) with variable phenotypic expression can be suggested. The normal righthand spiralization of the heart is genetically determined in cases of situs solitus and d-loop of the ventricles. This pattern is not present in cases of TGA presenting a parallel position of the great arteries. On the basis of these observations and according to new epidemiologic and genetic data some cases of TGA should be classified in the group of the anomalies of lateralization and ventricular loop. The mystery is still present but perhaps some gleams of light are appearing.
Italian heart journal. Supplement: official journal of the Italian Federation of Cardiology 03/2002; 3(2):154-60.
