[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.

Apical ventricular septal defect with reverse bidirectional transseptal flow: a sign of restriction within the right ventricle.

Apical ventricular septal defects (VSD) may spontaneously become restricted or may even close following tissue outgrowth within the right ventricle in the region of the apical muscle bundles. We report a case of spontaneous restriction of an apical VSD localized within the right ventricle in the region of prominent apical trabeculae, in which pulsed Doppler interrogation showed an unusual pattern of bidirectional blood flow across the VSD, with right to left flow in systole and left to right in diastole. Angiography confirmed these unusual aspects. This reverse bidirectional transseptal flow is due to the physiological incorporation of the apical part of the right ventricular cavity in the left ventricle and may be, in the absence of right outflow obstruction, a sign of restriction of the VSD inside the right ventricle.

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.