Consensus Document of the Italian Association of Hospital Cardiologists (ANMCO), Italian Society of Pediatric Cardiology (SICP), and Italian Society of Gynaecologists and Obstetrics (SIGO): pregnancy and congenital heart diseases.

The success of cardiac surgery over the past 50 years has increased numbers and median age of survivors with congenital heart disease (CHD). Adults now represent two-thirds of patients with CHD; in the USA alone the number is estimated to exceed 1 million. In this population, many affected women reach reproductive age and wish to have children. While in many CHD patients pregnancy can be accomplished successfully, some special situations with complex anatomy, iatrogenic or residual pathology are associated with an increased risk of severe maternal and fetal complications. Pre-conception counselling allows women to come to truly informed choices. Risk stratification tools can also help high-risk women to eventually renounce to pregnancy and to adopt safe contraception options. Once pregnant, women identified as intermediate or high risk should receive multidisciplinary care involving a cardiologist, an obstetrician and an anesthesiologist with specific expertise in managing this peculiar medical challenge. This document is intended to provide cardiologists working in hospitals where an Obstetrics and Gynecology Department is available with a streamlined and practical tool, useful for them to select the best management strategies to deal with a woman affected by CHD who desires to plan pregnancy or is already pregnant.

Role of bisoprolol in patients with long QT syndrome.

BACKGROUND: Long QT syndrome (LQTS) is a disorder of ventricular repolarization usually treated with ß-blockers, mostly with propanolol and nadolol. The aim of our study was to evaluate the role of bisoprolol in LQTS patients. METHODS: A total of 34 patients were evaluated in an average follow-up time of 93 months: 31 months without treatment, 31 months in treatment with nadolol or propanolol and 31 months in treatment with bisoprolol. The average age of patients at diagnosis was 17.3 years. The enrolled patients were followed through a semiannual electrocardiogram and an annual 24-hour Holter monitoring. All patients underwent genotyping, routine hematologic tests, and an echocardiogram. RESULTS: In 93 months there were 2 major and 12 minor cardiovascular events. Both the major events occurred in absence of ß-blocking therapy. Of the 12 minor cardiovascular events 3 occurred in absence of treatment, 7 during treatment with nadolol or propranolol, and 2 during treatment with bisoprolol. The mean heart rate at 24 h Holter was 87 bpm without treatment, 71 bpm in patients treated with propanolol and nadolol, and 70 bpm in patients treated with bisoprolol. There were not statistically significant differences between the three groups in the mean QTc. CONCLUSIONS: Beta-blocking therapy is the cornerstone of LQTS therapy but actually there is no clear indication about which beta-blocker should be used. In our experience bisoprolol proved to be less harmful and easier to manage than propranolol and nadolol in patients with LQTS, with the same effectiveness in preventing major cardiovascular events.

[ANMCO/SICP/SIGO Consensus document: Pregnancy and congenital heart disease]. / Documento di consenso ANMCO/SICP/SIGO: Gravidanza e cardiopatie congenite.

The success of cardiac surgery over the past 50 years has increased numbers and median age of survivors with congenital heart disease (CHD). Adults now represent two-thirds of patients with CHD; in the United States alone the number is estimated to exceed 1 million.In this population many affected women reach reproductive age and wish to have children. While in many CHD patients pregnancy can be accomplished successfully, some special situations with complex anatomy, iatrogenic or residual pathology are associated with an increased risk of severe maternal and fetal complications. Pre-conception counseling allows women to come to truly informed choices. Risk stratification tools can also help high-risk women to eventually renounce to pregnancy and to adopt safe contraception options. Once pregnant, women identified as intermediate or high-risk should receive multidisciplinary care involving a cardiologist, an obstetrician and an anesthesiologist with specific expertise in managing this peculiar medical challenge.This document is intended to provide cardiologists working in hospitals where an Obstetrics and Gynecology Department is available with a streamlined and practical tool, useful for them to select the best management strategies to deal with a woman affected by CHD who desires to plan pregnancy or is already pregnant.

Cardiac rhabdomyoma in intrauterine life: clinical features and natural history. A case series and review of published reports.

BACKGROUND: Fetal cardiac rhabdomyoma is very rare; despite the fact that many cases and series have been reported, the clinical presentation, the natural history and the frequency with which this pathology is associated with tuberous sclerosis complex are not well determined. The aim of this investigation was to study the clinical features and the natural history of cardiac rhabdomyoma when diagnosed during prenatal life. METHODS: Nine cases of cardiac rhabdomyoma detected among 5276 fetal echocardiograms recorded over a 10-year period in a single center were retrospectively reviewed. Medical records and echocardiograms were studied to determine the prenatal and postnatal course and outcome. RESULTS: The incidence of cardiac rhabdomyoma in our center was 0.17%. The gestational age at diagnosis ranged from 27 to 36 weeks. The most common reason for fetal echocardiography was an abnormal obstetric ultrasound scan (6/9 cases). In no case was there a family history of tuberous sclerosis. In one case, the tumor was single whereas in 8 cases multiple tumors were diagnosed. During prenatal life the majority of tumors were clinically silent. One fetus died of hydrops and arrhythmia. Four children presented with arrhythmia postnatally and one required surgery. At a mean follow-up of 47 months, total or partial regression was observed in 7 patients. Seven patients developed postnatal clinical signs of tuberous sclerosis. CONCLUSIONS: Fetal cardiac rhabdomyomas are often benign and have a tendency to regress, but their prognosis is guarded due to very frequent association with arrhythmias and tuberous sclerosis. During prenatal counseling, it is of utmost importance to inform the future parents of the virtually constant perspective of tuberous sclerosis complex.

[Isolated non-compaction of left ventricle in childhood: clinical experience with 5 cases]. / Non compattazione isolata del ventricolo sinistro in età pediatrica: esperienza clinica su cinque casi.

BACKGROUND: Isolated noncompaction of the left ventricular myocardium, a rare congenital disorder, is thought to be due to an arrest of myocardial morphogenesis. It is characterized by an excessively prominent trabecular meshwork and by deep intertrabecular recesses. The aim of this study was to clarify the late outcome of this malformation, reporting our experience on 5 pediatric patients observed for a period of 11 years. METHODS: We describe the clinical, electrocardiographic and echocardiographic findings of 5 pediatric cases, with an age ranging from 1 month to 10 years. The mean follow-up was 4.5 years (> 10 years in 1 patient). RESULTS: In no case did life-threatening ventricular arrhythmias or systemic embolic events occur. Four patients who developed heart failure have been submitted to digoxin, diuretic, angiotensin-converting enzyme and anticoagulant therapy. One of them is still asymptomatic and in good health. One patient died while on the waiting list for cardiac transplantation. CONCLUSIONS: The appropriate and early diagnosis and treatment of this disorder can improve the outcome even though further studies will be needed to elucidate its long-term prognosis. At the same time, in view of the high incidence of a positive family history, evaluation of all members of the family is warranted.

Primary percutaneous coronary intervention for acute myocardial infarction in a pediatric patient with giant coronary aneurysm due to Kawasaki disease.

We report a case of acute myocardial infarction in an 8-year-old boy with a history of Kawasaki disease and giant coronary aneurysms in the right and left coronary arteries. We performed coronary angiography and percutaneous coronary intervention 4 hours after the onset of symptoms. This case suggests that primary percutaneous coronary intervention might be safe and effective in the long-term treatment of acute myocardial infarction due to coronary sequelae of Kawasaki.

Diagnosis and prognosis of fetal cardiomyopathies: a review.

Cardiomyopathies (CM) are a very rare disease in fetuses with a very poor outcome. Only isolated case reports and small case series were reported. According with published studies we will describe the fetal CM starting from their echocardiographic presentation: dilated cardiomyopathy (DCM) with dilatation of either or both ventricles and impaired ventricular function, and hypertrophic cardiomyopathy (HCM) with different degree of disproportionate hypertrophy of the myocardial walls. The term of the "noncompaction" of the left ventricular myocardium, is used in cases with DCM with evidence of numerous prominent trabeculations with deep myocardial recesses. In series of neonates and infant the CM occur in about 2-7%, but probably during the fetal life the prevalence is higher: 6% - 11%. The high intrauterine loss, occurring in one third of affected fetuses, likely accounts for these differences. Fetal echocardiography, B and M-mode, is the main diagnostic tool and it is useful for the therapeutic orientation and to determine the neonatal outcome. A haemodynamic evaluation can be performed by Doppler mode. Systolic and diastolic fetal cardiac function have become part of the routine evaluation of the fetal heart. Cardiomyopathies can be isolated or associated with other cardiac and non cardiac malformations. All the studies confirm a great variability of DCM in the fetal age as for the anatomical and functional forms, etiology and hemodynamic impact with different final outcome. Genetic, metabolic, infective, and cardiac diseases may present with DCM. Ventricular dysfunction may be progressive in utero and after birth, but possibility of improvement or even normalization of the left ventricular dysfunction is known in all forms of DCM, "idiopathic", post infective or in noncompaction of left ventricle. The outcome is worse in presence of fetal hydrops, significant atrioventricular valve regurgitation, for the earlier age at presentation and when diastolic dysfunction is associated with systolic dysfunction. Etiologically primary fetal HCM is a heterogeneous condition that can be the result of intrinsic fetal pathology as well as of extrinsic factors. It can be concentric or asymmetric. Prognosis of infants with HCM associated with maternal diabetes is good while a bad prognosis has been reported in fetuses without diabetic mother. HCM may be evolutive, mainly after birth; otherwise there are also cases that improve or regress completely. Unfortunately, a poor outcome is observed in most, particularly in DCM, with only a few therapeutic options available. Detailed evaluation of fetal and maternal condition provide prognostic information for prenatal counselling and may lead to improved outcome of at least some affected pregnancies.

Features and outcomes in utero and after birth of fetuses with myocardial disease.

Objectives. Ninety-one fetuses with dilated or hypertrophic cardiomyopathy (DCM, HCM) and myocarditis were studied. Results. Group 1 "DCM" included 19 fetuses: 13 with hydrops (FH) and 5 with associated extracardiac anomalies (ECAs) (15.8%). Group 2 "Myocarditis" included twelve fetuses, having 11 with FH. Group 3 "HCM" included sixty fetuses: 26 had associated ECAs, 17 had maternal diabetes, and 17 were "idiopathic"; however, in one case, a metabolic disorder was found postnatally, and 4 had familiarity for HCM. Outcomes. Ten cases opted for termination of pregnancy. Two cases with DCM and 1 with HCM were lost at follow-up. Out of the cases that continued pregnancy, with known follow-up, mortality was 68.75% in Group 1, 63.6% in Group 2, and 31.3% in Group 3 (the majority with severe ECAs). Surviving cases with DCM and myocarditis improved, 2 with HCM worsened, 6 remained stable, and 26 improved or normalized. Conclusions. Our data show more severe prognosis in DCM and myocarditis and forms with severe associated ECAs.

Cardiovascular magnetic resonance characterization of a hamartoma in an asymptomatic child.

BACKGROUND: The prevalence of primary cardiac neoplasms is approximately 0.3% and these masses should be distinguished from many of other primary and secondary processes that can occur in the heart. Further assessment of the left ventricular mass presents important clinical implications. Cardiovascular magnetic resonance was used. CLINICAL CASE: An asymptomatic 12-year-old child was referred for cardiovascular magnetic resonance imaging to further assess a left ventricular mass found after an echocardiography, executed for assessment for sport activity. His past medical history was absolutely negative. The patient was in optimal state of health. The EKG showed an aspecific ST elevation. A hamartoma was diagnosed. A surgical approach was performed. After 7 days the patient is in good condition.

Supraventricular tachycardia in fetus: how can we treat ?

The normal fetal cardiac rhythm is characterized by a regular heart rate ranging between 100 and 160 -180 beats/min with a normal 1: 1 atrioventricular electromechanical relationship during each cardiac cycle. Fetal tachycardia occurring in approximately 0.5% of all pregnancies and it is an important cause of fetal morbidity and mortality. A fetal tachycardic heart is at risk for developing low cardiac output, hydrops and ultimately fetal death or significant neurological morbidity. Different conditions can play a role to determine the natural history of tachycardic fetus as gestational age, underlying pathophysiology of the arrhythmia, fetal heart rate, duration of the tachyarrhythmia, and presence or absence of cardiac dysfunction. Reliable diagnosis in utero of fetal arrhythmia is possible by ultrasound examination of the fetal heart. In fact pulsed wave Doppler guided by two-dimensional echocardiography provided important information on cardiac rhythm as it study the blood flow from different chambers. With the introduction of the latest myocardial deformation methodology, the fetal tachyarrhythmias can be diagnosed more accu notrately. Precise diagnosis of cardiac arrhythmias in the fetus is crucial for a managed therapeutic approach. The choice of management is correlated to many factors: gestational age, underlying pathophysiology of the arrhythmia, fetal heart rate, duration of the tachyarrhythmia, and presence or absence of cardiac dysfunction. A large review of fetal arrhythmias was been reported in our work.

Segmental dyskinesia in Wolff-Parkinson-White syndrome: a possible cause of dilatative cardiomyopathy.

Wolff-Parkinson-White (WPW) is a syndrome characterized by the presence of an accessory pathway that skipping A-V node may lead the electrical stimulus from the atrium directly to the ventricle. Some studies reported the finding of myocardial dyskinesia in the segments precociously activated by the accessory pathway, at echocardiogram and at nuclear cardiac study. Soria et al. reported, in 1985, an increased incidence of dilative cardiomyopathy in patients with WPW. The pathophysiological pathway that leads to ventricular dilation may be due to the increase of end-diastolic pressure secondary to a tachycardia-induced cardiomyopathy. Tachycardia-induced cardiomyopathy is usually secondary to frequent and prolonged tachycardia episodes. In this paper we report the cases of three patients affected by WPW who developed dilative cardiomyopathy during the follow-up. Particularly dyskinetic segments, working such as a functional aneurysm, could induce deep modifications of intraventricular haemodynamics, leading to remodelling and progressive ventricular dilation. This hypothesis could have important empirical consequences because it could imply the necessity of a precocious ablative therapy in this kind of patients.

Anticoagulant drugs in noncompaction: a mandatory therapy?

BACKGROUND: Noncompaction of left ventricular myocardium is a rare congenital cardiomyopathy resulting from an incomplete myocardial morphogenesis that leads to the persistence of the embryonic myocardium. This condition is characterized by a thin compacted epicardial and an extremely thickened endocardial layer with prominent trabeculations and deep intertrabecular recesses. It is not clear, in noncompaction of myocardium, whether intertrabecular recesses could be responsible for thrombi formation and thromboembolic complications. METHODS: The prevalence of stroke and echocardiographic finding of thrombus was evaluated in a continuous series of 229 patients (men and women) affected by noncompaction of the left ventricular myocardium, who were included in the SIEC registry. We excluded patients affected by atrial fibrillation. RESULTS: The mean age of the patients was 49.5 years. Fifty percent of the patients were affected by a ventricular systolic dysfunction. The mean period of follow-up was 7.3 years. Only four patients had a history of ischemic stroke. A large thrombus into the left ventricular chamber was observed in a 1-year-old child affected by Behcet's disease (high risk of thrombi formation). CONCLUSION: Noncompaction of the left ventricular myocardium, by itself, does not seem to be a risk factor for stroke or embolic results, so there is no indication for oral anticoagulant therapy.

The noncompaction of the left ventricular myocardium: our paediatric experience.

OBJECTIVES: The noncompaction of the left ventricular myocardium is a rare congenital heart disease, characterized by an excessive prominence of trabecular meshwork, spaced out by deep intertrabecular recesses, consequent to the arrest of the normal myocardium embryogenesis. Although there are numerous descriptions, the physiopathological effects of the structural alterations, just like the clinical spectrum and the evolution of the disease, are not totally clarified. In the present study, we have evaluated the natural history of the disease, the familial incidence and the alterations of the systolic and diastolic function. METHODS: We collected a series of 21 young patients who were affected by noncompaction of left ventricular myocardium. In all cases, a diagnosis was echocardiographically made on the basis of a reported spongy/compacted ratio > 2 in one or more segments of the left ventricle. Thirteen patients were male and eight were female, with a mean age of 12.7 years (range 21 days to 27 years). The average follow-up time was 7.8 years (range 1-18 years); all patients were periodically tested by ECG Holter and two-dimensional and Doppler echocardiogram. In 14 patients, the last echocardiographic evaluation included the analysis of tissue Doppler imaging (TDI). RESULTS: The noncompaction of left ventricular myocardium was isolated in nine cases and associated with a structural cardiopathy in 12 cases: with atrial septal defect in four cases, ventricular septal defect in four cases, aortopulmonary window in one case, aortic coarctation in one case and bicuspid aortic valve in one case. One case presented a type Kent ventricular pre-excitation. Twelve cases were symptomatic at the moment of the diagnosis (for heart failure in 11 cases and for syncope in one case). Nine cases were asymptomatic and the diagnosis was made during a family screening or occasionally. In ten of the 11 subjects affected by congestive heart failure, medical therapy re-established a good haemodynamic balance (in two cases, it was possible to suspend the therapy). In one case with congestive heart failure and pulmonary hypertension in New York Heart Association class III, we recommended heart transplantation. We did not find any dysrhythmia in any of the cases. Diastolic function impairment, tested by transmitral blood pressure monitoring and TDI, was found in seven of 14 patients, all with reduced left ventricular contractility. CONCLUSIONS: We noticed a considerable variability of clinical presentation in our cases, according to the number of the ventricular segments affected by the anomaly. According to our data, middle-term prognosis appears to be better than that previously reported in the literature. We found a reduction of the systolic function only in 50% of cases, all with severe involvement of the apical and postero-lateral segments. Diastolic function was compromised only in those patients with severe impairment of systolic function.

A coronary right fistula canalized in a small accessory right atrial chamber.

The coronary artery fistulas are rare congenital anomalies with a very low incidence. These can be symptomatic or asymptomatic because the hemodynamic consequences of the fistula vary and depend on the shunt dimensions. Discordant opinions instead are present in the literature for the defect closing in asymptomatic patients. Here, we describe a patient affected by a coronary right fistula canalized in a small accessory right atrial chamber. During follow-up, we observed a progressive dilatation of the right coronary artery (maximum diameter 10.3 mm) with hemodynamic overload of the right sections.

Evaluation of diastolic function by the Tissue doppler in children affected by non-compaction.

The Tissue doppler analysis is a new echocardiographic approach to evaluate the diastolic function. In this report we performed a Tissue doppler analysis in a series of 15 children affected by non-compaction. The bidimensional echo-cardiogram showed a systolic function which was reduced only in 8 patients. Alterations of the diastolic function were founded in 7 patients: in 2 cases, a reduction of the E tissue wave was present in all segments. In 3 patients the diastolic dysfunction was limited to apical and lateral segments. In the last 2 children a reduction of the E wave interested only the apical segments. There was a strong correlation between systolic and diastolic dysfunction: in fact all patients with diastolic dysfunction also presented a severe reduction of the systolic function.

Prenatal diagnosis of ventricular aneurysm: a report of two cases and a review.

Ventricular aneurysms have rarely been reported prenatally. Their prognosis is variable depending on factors such as early detection, their relative size in comparison to the ventricular cavity, growth on follow-up, and signs of cardiac failure. In view of the fact that it may be useful to report on additional cases in order to make available further information on aetiology, prognosis and neonatal management, we hereby report on two cases of ventricular aneurysm with good mid-term prognosis. One case of apical aneurysm of the left ventricle was associated with a muscular ventricular septal defect, the features of which are compatible with a fetal myocardial infarction and ventricular septal rupture in absence of coronary artery anomalies as demonstrated by catheterisation. Another case of sub-tricuspidal aneurysm of the right ventricle associated with mitral prolapse appears to be a component of diffuse connective dysplasia. Despite the early gestational age at diagnosis, the large size of the aneurysm and the associated defect, both the infants were asymptomatic in infancy prompting a conservative management.

Abnormalities of the umbilico-portal venous system in Down syndrome: a report of two new patients.

Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt. Both patients also had heart defects. As previously documented in other reports, our cases demonstrated that this association may be causally-related to the chromosomal aberration. In addition, the umbilico-portal venous system abnormalities seems to be the most frequent congenital vascular malformation in Down syndrome. A presumptive pathogenetic mechanism could be a trisomy 21-related altered angiogenesis of the vitelloumbilical plexus.