Marco Bonvicini

Effect of sildenafil on haemodynamic response to exercise and exercise capacity in Fontan patients

AIMS We sought to assess the effects of sildenafil on exercise capacity and haemodynamic response to exercise in Fontan patients. METHODS AND RESULTS We prospectively studied 27 patients with Fontan circulation (age 22.8 +/- 4.9 years). All patients underwent a baseline exercise test with non-invasive measurement of cardiac index (CI) and pulmonary blood flow (PBF) index, and peak exercise oxygen uptake (VO(2)). After the baseline test, patients were randomly assigned to receive either a single 0.7 mg/kg body weight oral dose of sildenafil citrate (n = 18) or no treatment (control group, n = 9). After 1 h of rest, all patients performed a second exercise test. All patients completed the study protocol. The dose of sildenafil ranged from 25 to 50 mg. The change in peak VO(2), the primary endpoint, was greater in the sildenafil group (9.4 +/- 5.2%) than in the control group (0.3 +/- 4.1%, P < 0.05). Sildenafil increased rest and peak exercise PBF index (P < 0.01 and P < 0.05 vs. control group, respectively), as well as rest and peak exercise CI (P < 0.001 and P < 0.05 vs. control group, respectively), without altering rest or peak exercise transcutaneous arterial blood oxygen saturations (P > 0.05 vs. control group for both). No patient reported serious adverse events after sildenafil. CONCLUSION In Fontan patients, oral administration of a single dose of sildenafil improves exercise capacity and haemodynamic response to exercise.

Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy A Long-Term Longitudinal Study

Background and Purpose— Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder associated with cardiac involvement. We investigated the spectrum and relevance of the cardiac manifestations of EDMD, focusing on bradyarrhythmias and tachyarrhythmias (including atrial fibrillation/flutter), embolic stroke, and heart failure. Methods and Results— Eighteen patients (age 42.8±19.6 years) with genetically confirmed X-linked (n=10, including 3 carriers) or autosomal dominant (n=8) EDMD were followed for a period ranging from 1 to 30 years in a research center for neuromuscular diseases and in a university cardiological department. Pacemakers were required by 10 of 18 (56%) patients for bradyarrhythmia, and related complications occurred in 3 of 10 (30%) cases. Atrial fibrillation/flutter developed in 11 of 18 (61%) patients, with atrial standstill subsequently occurring in 5 of 11 (45%) cases and embolic stroke (most often disabling) in 4 of 11 (36%). Heart failure requiring transplantation occurred in 1 of 18 (6%) patients, and asymptomatic left ventricular dysfunction in a further 3 (17%). No relationship was evident between neuromuscular impairment and cardiac involvement. Conclusions— Both X-linked and autosomal dominant EDMD patients risk not only bradyarrhythmia (requiring pacemaker implant) but also atrial fibrillation/flutter, which often anticipates atrial standstill and can cause disabling embolic stroke at a relatively young age. Antithromboembolic prophylaxis has to be recommended in EDMD patients with atrial fibrillation/flutter or atrial standstill. With careful monitoring, survival after pacemaker implant may be long. Heart failure, which seems to occur only in a minority of patients, may be severe.

Modulation of neurohormonal activity after treatment of children in heart failure with carvedilol

BACKGROUND In adults with heart failure, neurohormonal overstimulation is related to the progression of the disease, and influences prognosis. beta-blockers, which modulate neurohormonal activation, now play an essential role in the pharmacological management of heart failure in adults, but their use in children is very limited. PATIENTS AND METHODS To investigate the effects of carvedilol administration on neurohormonal activation and left ventricular function, carvedilol was added to standard treatment for heart failure in 9 patients with dilated cardiomyopathy due to heart muscle disease. Standard treatment has been in place for at least 1 month. The protocol consisted in a baseline evaluation to assess neurohormonal activation, and echocardiographic evaluation of left ventricular function. This was followed by a final evaluation at 12 months from carvedilol loading. Carvedilol was started at 0.05 mg/kg/day, and increased every two weeks until the target dose of 0.8 mg/kg/day was reached. RESULTS Carvedilol administration was associated with a significant reduction in plasma norepinephrine (p = 0.00001), dopamine (p = 0.0001), aldosterone (p = 0.00001) and activation of the renin-angiotensin system (p = 0.0006). Similar reductions in vanilmandelic and homovanillic acid were noted. After 12 months, a positive remodeling took place, with significant reductions in end-diastolic (p = 0.004) and end-systolic diameters (p = 0.009), and an increase in left ventricular ejection fraction (p = 0.001). No adverse effects needing reduction or interruption in the dosage were noted in the run-in phase, nor in the period of maintenance. CONCLUSION Carvedilol is a safe complement to standard therapy for heart failure in children, allowing a significant reduction of neurohormonal activation with evident benefits on both ventricular function and the clinical condition.

Can a child who has been operated on for congenital heart disease participate in sport and in which kind of sport

Exercise training and sports participation is an important part of the physical, psychological and metabolic growth of any child and adolescent, and this is also true for patients with congenital heart disease (CHD). As one can expect, exercise tolerance varies widely according to the CHD and to the treatment received, but the functional result achieved in the single patient is more important. Individual counselling is necessary and should be based on observations/results of thorough cardiovascular assessment. Exercise testing is the ideal tool to identify patients in whom exercise may induce arrhythmias or haemodynamic instability. In general, some degree of aerobic, isometric exercise training can be granted to most patients operated on for CHD. Serial evaluations may be required because of changing haemodynamic and functional status with time.

Dilation of peripheral vessels in Marfan syndrome: importance of thoracoabdominal MR angiography.

OBJECTIVES Aim of this study was to assess vascular morphology and dimension of the entire aorta and branch vessels in MFS using thoracoabdominal MR angiography (MRA). BACKGROUND Evaluation of vascular involvement in Marfan Syndrome (MFS) is focused to the ascending aorta, which has the major risk of dissection/rupture. METHODS From March 2006 to January 2011, 64 patients (35 ± 13 years old) with MFS underwent echocardiography and MRA of thoracic and abdominal aorta. Measurements of ascending aorta, aortic arch, descending thoracic and abdominal aorta, and aortic branch vessels were assessed. In patients with aortic dissection only non dissected vessels were considered for measurements. RESULTS 64 Marfan patients were divided into 2 groups: patients in natural history (group A, 55%) and patients previously submitted to aortic root and/or ascending aorta replacement because of severe aortic dilation or dissection (group B, 45%). Dilation of the descending aorta, mostly of the aortic isthmus, occurred in 18/53 patients (8/35 group A, 10/18 group B). Abdominal aorta resulted in the normal range in group A and in 16/18 patients of group B, while iliac vessels were dilated in 7/35 patients of group A and in 10/23 patients of group B. Four patients of group B presented isolated dilation of subclavian, celiac, mesenteric, or renal arteries. CONCLUSIONS Vascular dilation beyond the aortic root is not uncommon in MFS. The systematic use of MRA provides a comprehensive evaluation of the entire arterial system.

Criteria for selection of balloon valvoplasty for treatment of aortic stenosis in neonates

In 10 neonates with critical aortic stenosis who were treated with balloon dilation, we investigated retrospectively the predictive value for mortality of three echocardiographic parameters: early diastolic mitral valvar diameter, left ventricular end-diastolic diameter, and diameter of the aortic root. Valvoplasty was technically successful in each patient and the peak systolic ejection gradient decreased from 85±42 to 22±13 mm Hg, but clinical success was achieved in only six neonates, with four dying. The diameter of the aortic root was similar in survivors and non-survivors. The mitral valvar diameter and the left ventricular end-diastolic diameter, in contrast, were significantly smaller in non-survivors. The mitral valvar diameter and the left ventricular end-diastolic diameter, in contrast, were significantly smaller in non-survivors. The association of a mitral valvar diameter equal to, or less than, 9 mm with a left ventricular end-diastolic diameter equal to, or less than, 14 mm identified clearly all those who did not survive. In the future, we will recommend patients with these anatomical features for primary Norwood palliation. Neonates with a mitral valvar diameter equal to or greater than 12 mm and a left ventricular end-diastolic diameter equal to or greater than 17 mm, in contrast, are good candidates for balloon dilation. All our patients with these anatomical features survived and are doing well at follow-up (30±14.8 months). Simple echocardiographic measurements, therefore, can help in predicting outcome and choosing the best treatment in neonates with critical aortic stenosis.

Treatment of recurrent stroke and pulmonary thromboembolism with percutaneous closure of a patent foramen ovale and placement of inferior vena cava filter

The association between recurrent episodes of pulmonary embolism, stroke, and congenital anomalies of the clotting system features a condition of increased risk of recurrences despite anticoagulant therapy. We report the successful management of this association with percutaneous closure of the foramen ovale and placement of an inferior caval vein filter. Cathet Cardiovasc Intervent 2003;58:413–415.

Sex differences in congenital heart defects and genetically induced arrhythmias.

Sex medicine can be applied to define the effect of male or female sex-associated differences on the prevalence of congenital heart defects (CHDs), on clinical manifestation of the latter, on means of dealing with the defects and facing consequent surgical treatment, as well as on the success of surgery. The widespread use of modern databases has undoubtedly enhanced the possibility of these observations compared to the past, when findings were limited to case series from single cardiology or paediatric heart surgery units. The aim of the present review is to assess all publications present in the literature on sex differences and CHD, placing particular emphasis on both contradictory aspects and less acknowledged issues. Furthermore, a section of the review is devoted to the effect of sex differences on cardiac arrhythmias, particularly the largely genetically predetermined electrophysiological differences observed between men and women.

Transcatheter coil occlusion of residual shunt in a patient with recurrent cryptogenic stroke after PFO percutaneous closure

A significant association has been suggested between a residual shunt and the risk of cerebral ischemic recurrences after transcatheter patent foramen ovale (PFO) closure. We report the use of a detachable coil to treat a residual shunt in a patient who had a recurrent cerebral ischemic event after transcatheter closure of a PFO. Catheter Cardiovasc Interv 2004;61:415–417.

Congenitally corrected transposition of the great arteries in an 83-year-old asymptomatic patient: description and literature review

We describe the case of an 83-year-old asymptomatic man followed in our centre. Transoesophageal echocardiography disclosed congenitally corrected transposition of great arteries (CCTGA) with no associated anomalies and only mild aortic regurgitation. Cardiac MR confirmed the diagnosis and revealed preserved systemic ventricle systolic function with a normal perfusional pathway. This report is a demonstration that CCTGA without associated anomalies can reach older life in an asymptomatic condition. This is the oldest asymptomatic living patient with CCTGA ever described.