Mara Pilati

The Ross–Yacoub procedure for aneurysmal autograft roots: A strategy to preserve autologous pulmonary valves

OBJECTIVES Autograft dilatation is leading to an increase in root reoperations late after the Ross procedure. A 14-year clinical experience was reviewed to define the feasibility and outcome of the autograft valve-sparing root reoperation. METHODS One hundred twenty-six patients surviving an average of 7.4 +/- 9.9 years after the Ross procedure underwent cross-sectional clinical and echocardiographic examination. Study end points were freedom from autograft dilatation (diameter >4 cm or 2.1 cm/m(2)), root reoperation, root replacement, and functional outcome after the valve-sparing reoperation. RESULTS Thirty-one (25%) patients had dilatation, with 45% +/- 9% freedom at 14 years. In 14 (11%) patients an autograft aneurysm (>5.0 cm) was found: 12 had reoperations at 8.9 +/- 2.6 years after the Ross procedure. Risk factors for root reoperation at multivariate analysis were root technique (P = .01), root dilatation (P = .001), and follow-up duration (P = .06). Two patients had root replacement, and 10 (83%) had remodeling with valve preservation (8 Yacoub procedures and 2 sinotubular junction/ascending aorta procedures); all survived reoperation. Absence of severe autograft insufficiency (P = .04) and convergent-type aneurysm (P = .05) were associated with successful valve preservation. Fourteen-year freedom from root reoperation was 80% +/- 7%, and freedom from full root replacement was 97% +/- 4%. At 3.2 +/- 1.5 years (range, 0.2-4.8 years) after root reoperation, all patients are in New York Heart Association class I and are medication free: 9 of 10 patients have mild autograft valve insufficiency or less, and 1 required valve replacement 51 months after remodeling. One patient carried out 2 uncomplicated pregnancies 3 and 4 years after the Ross-Yacoub procedure. CONCLUSIONS Root reoperation with pulmonary valve preservation is feasible in the majority of patients with autograft aneurysms, allowing for maintenance of normal quality of life. Referral of patients with a dilated root before the appearance of severe valve insufficiency increases the likelihood of pulmonary valve sparing. Functional behavior of remodeled autograft roots is rewarding; however, continued observation is warranted.

Arterial tortuosity syndrome in two Italian paediatric patients

BackgroundArterial tortuosity syndrome (ATS) (OMIM #208050) is a rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries, propensity to aneurysms formation, vascular dissection, and pulmonary arteries stenosis. ATS is caused by mutations in SLC2A10 gene, encoding for the facilitative glucose transporter 10 (GLUT10). So far, 17 SLC2A10 mutations have been reported in 32 families, two of which were Italian with a total of five patients. Here we present the clinical and molecular characterization of two novel Italian paediatric ATS patients.MethodsThe exons and intronic flanking regions of SLC2A10 gene were amplified and direct sequencing was performed.ResultsIn both patients, the involvement of major- and medium-sized arteries was characteristic; the nonvascular connective tissue manifestations were mild and not pathognomic of the disorder. Both patients, born from non-consanguineous parents, were heterozygous for two different SLC2A10 mutations, three of which were recurrent and one was novel (p.Arg231Trp). This mutation is localized at the endofacial loop between the transmembrane domains 6 and 7 of GLUT10.ConclusionTwo novel ATS patients were characterized at clinical and molecular level. Overall, four ATS unrelated families are known in Italy so far. Though ATS clinical delineation improved in the last years, further works in the comprehension of disease presentation and complications onset, particularly in paediatric age, and on ATS molecular basis are needed to add new insights for diagnosis and prevention strategies for related complications.

Impact of donor quality on outcome of heart transplantation

OBJECTIVE Over the last few years, there have been changes in both donor and recipient profiles in heart transplantation. Encouraging clinical outcome of marginal donors in candidates older than 60 years of age led us to allocate suboptimal donors for younger recipients as well. We reviewed our experience retrospectively so as to assess the impact of donor quality on heart transplantation. METHODS Among 181 patients who underwent heart transplantation between January 2000 and February 2009, there were 75 patients (41%) aged 61-70 years and 106 patients (59%) ranging in age between 18 and 60 years. According to the recipients age, they were classified into four groups. The younger recipients (106 patients) had either optimal donors (70 patients, group 1) or marginal donors (36 patients, group 2). The older recipients (75 patients) had either marginal grafts (64 patients, group 3) or optimal grafts (11 patients, group 4). Sex distribution, cause of end-stage heart failure, preoperative pulmonary hypertension, pre-heart-transplantation clinical status or mean follow-up duration did not show any statistically significant difference among the four groups. RESULTS Overall, the 9-year actuarial survival rate was 78%±1%. The 30 days and 9-year actuarial survival rates were 94%±2% and 80%±1% in group 1; 86%±5% and 55%±12% in group 2; 90%±4% and 73%±7% in group 3; 99%±1% and 82%±7% in group 4 (P=0.07). Comparison among the four groups did not show any statistical difference in terms of freedom from graft failure (P=0.3), right ventricular failure (P=0.3), acute rejection (P=0.2), chronic rejection (P=0.2), neoplasia (P=0.5) and chronic renal failure (P=0.2). Older recipients of marginal donors (group 3) had slightly higher prevalence of permanent pacemaker implants: eight permanent pacemakers versus two in group 2, and none in group 1 and group 4 (P=0.4). CONCLUSIONS Our results suggest that extended donor acceptance criteria may not compromise clinical outcome after heart transplantation. Further follow-up is warranted.

Age at Repair Affects the Very Long-Term Outcome of Sinus Venosus Defect

BACKGROUND Records of patients who had repair of sinus venosus defect (SVD) between 1970 and 2008 were reviewed to predict very long-term outcome. METHODS Repairs occurred in 104 consecutive patients (51 men), aged 29 +/- 23 years (range, 1 to 70 years). Seven had isolated SVD and 97 had associated lesions that required concomitant operations. Five patients had preoperative arrhythmias; 24 (23%) were in New York Heart Association (NYHA) class III to V. Single-patch repair was done in 91 patients, caval translocation (Warden) in 7, and double-patch in 6. RESULTS Ten late deaths during 38 years of follow-up (mean, 15 +/- 20 years). Survival was 97% +/- 2% and 79% +/- 7% at 10 and 30 years. Thirty-one (29%) long-term survivors experienced 47 complications, including chronic/recurrent supraventricular tachycardia in 28, heart failure in 5, permanent pacing in 8, cerebrovascular accident in 3, and unrelated cardiac reoperation in 3. At 30 years, freedom from adverse cardiac events was 47% +/- 9%, from supraventricular tachycardia, 50% +/- 9%; from permanent pacing, 83 +/- 6%; and from cerebrovascular accident, 96% +/- 2%. Follow-up age was 42 +/- 23 years (range, 5 to 82 years); 74 patients (79%) were in NYHA class I, and 15 and 5 were in class II and III to IV, respectively. Baseline cardiac rhythm was sinus in 75 patients (84%), atrial fibrillation in 11 (12%), and paced in 8. Nine patients had moderate/severe pulmonary hypertension, and 8 had left ventricular dysfunction. Only older age at operation was associated with lower survival (p = 0.003), freedom from cardiac events (p = 0.001), supraventricular tachycardia (p = 0.009), and permanent pacing (p = 0.002). Repair before age 20 was associated with lower NYHA class at follow-up (p = 0.01). CONCLUSIONS SVD repair at an older age is associated with increased risk of late mortality, adverse cardiac events, and worse functional outcome. Repair during childhood is strongly advised.

Operative risk and outcome of surgery in adults with congenital valve disease.

To define risk and outcome of surgery in adults with congenital valve disease (CVD), experience between 2002 and 2005 with 371 CVD operations (288 males, aged 56 ± 9 years) was compared with 2102 for acquired valve disease (AVD) (69 ± 22 years, p = 0.02). Diagnosis included: bicuspid aortic valve (BAV), 337, s/p ToF repair, 11; atrio-ventricular valve dysfunction, 10; other, 13. Associated lesions were present in 259 patients (70% vs. 17%, p = 0.001): ascending aorta, 205; right ventricular outflow tract obstruction, 40; coronary artery, 34; mitral/tricuspid valve, 27; septal defect, 17; subaortic stenosis, 4; aortic arch, 4; other, 3. Fifty-two patients (14% vs. 2.5% AVD, p = 0.001) had undergone 75 prior operations (1.4/patient) and 14 (3.8% vs. 1.9% AVD, p = 0.04) required urgent/emergent surgery (endocarditis, dissection). Valve repair was done in 36 (10% vs. 3% AVD, p = 0.02) and replacement in 335: stentless solution (native, autograft, xenograft) was offered to 101 (29%) patients. In BAV, partial root replacement was associated in 63, complete in 77 and ascending aorta in 92. Three (0.8%) hospital deaths occurred (vs. 1.9% AVD, p = 0.2) due to endocarditis. Twenty-six patients (7.0% vs. 10.8% AVD, p = 0.003) experienced complications (cardiac, 7; neurologic, 6; respiratory, 5; renal, 3; sepsis/multiple organ failure (MOF), 2; hemorrhage, 8). Urgent/emergent surgery predicted hospital mortality (p = 0.001). During 5-year follow- up (average 2.6 ± 1.8 years), there was one late cardiac death and three reoperations (98% free). Despite higher prevalence of associated procedures, reoperation and emergent indication, operative risk in CVD is lower than in AVD, possibly because of younger age. Stentless valve surgery, allowing normal life-style (e.g., exercise, pregnancy), is increasingly preferred.

Ischemia Induced by Transesophageal Atrial Pacing Stress Echocardiography Predicts Long-Term Mortality

Objectives: It was the aim of this study to investigate the long-term value of transesophageal atrial pacing in predicting death in patients with known or suspected coronary artery disease. Background: Exercise, dobutamine and dipyridamole stress echocardiography are all effective in predicting cardiac death. Transesophageal atrial pacing stress echocardiography (TAPSE) is a safe alternative to pharmacologic tests, but no information is available on prognosis with TAPSE. Methods: One thousand and ten TAPSE were performed in 975 consecutive patients. TAPSE was feasible in 970 tests (96%); after exclusion of the 35 patients with more than 1 TAPSE and those 42 lost at follow-up (mean 4.5 ± 3.7 years, median 6 years), the final population consisted of 857 patients (675 males, 58 ± 9 years old). The Cox model was used to analyze the association of clinical, resting and TAPSE variables with cardiac death. Results: TAPSE was abnormal in 281 (32%) patients. There were 46 cardiac-related deaths (5%), 25 among the 281 patients with an abnormal test (8.9%) and 21 among the 576 patients with a normal test (3.6%). The predictors of cardiac death were age, previous revascularization, resting wall motion score index and its variation during TAPSE. Abnormal TAPSE significantly increases the value of models predicting cardiac death. Moreover, cardiac mortality increased progressively with the extent of the induced ischemia. Conclusions: TAPSE is a useful tool in predicting death in patients with known or suspected coronary artery disease and might be considered an alternative to pharmacologic stressors.

Clinical Outcome of Benign Cardiac Tumors inInfants During A 13 Years’ Experience: Impact ofPrenatal Diagnosis

Background: Primary cardiac tumors (PCT) in children are rare disorders. Prenatal diagnosis is feasible. Most of them have favorable prognosis, but some still prove fatal.Objective: To define clinical outcome of benign PCT and the possible impact of prenatal diagnosis. Methods: 14 cases were collected between December 2005 and August 201. We included patients with pre and postnatal diagnosis, medically and surgically managed. Pre and postnatal examinations, surgical procedures, clinical information before and after surgery, histological diagnoses were reviewed. Results: Seventy-two percent of PCT were detected prenatally. Median follow-up time was 3,13 years. In the medical managed group, one had complete spontaneous regression, 3 had spontaneous reduction, 2 underwent efficacious Enviroximes treatment and one was lost to follow-up. 46% of cases needed surgery. In two infants, perioperative support with V-A ECMO and iNO was necessary. Complete excision of the mass was possible in 5 cases. Rate of hospital death was 20%. All but one late survivors were symptom-free at last clinical assessment. Clinical relevant recurrence of mixoma occurred in one case. Conclusion: Benign PCT have extremely diverse course, some proving fatal in spite of benign histology. Prenatal diagnosis is crucial to plan delivery and neonatal management, as some benign PCT require intensive care. Complete excision of the mass usually is feasible but may be limited by young age and extent of cardiac infiltration. Even if patients are generally well after surgery, long term follow up is mandatory as some masses recur.