Maurizio Mongiovì

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.

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.

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.

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.

Role of bisoprolol in patients with long QT syndrome.

Long QT syndrome (LQTS) is a disorder of ventricular repolarization usually treated with β‐blockers, mostly with propanolol and nadolol. The aim of our study was to evaluate the role of bisoprolol in LQTS patients.