Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience

Abstract

BACKGROUNDCardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size.AIM:We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years).MATERIAL AND METHODS:We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources.RESULTS:Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient’s haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up.CONCLUSIONS:Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

Diagnosis of tuberous sclerosis complex in the fetus

“…Crawford). In the last decades a growing number of case reports have been described in the literature (23,28,(30)(31)(32)(33)(34)(35)(36) along with original case series studies (11,21,24,25,26,22,29) researching the clinical association of cardiac tumors in fetuses with TSC diagnosis. Most studies are small in number and lack long-term follow-up data (22.…”

Clinical and genetic description of patients with prenatally identified cardiac tumors

“…A prevalence of cardiac rhabdomyomas of 1:20 000 births has been reported. Rhabdomyomas are the most frequent neonatal cardiac tumor, accounting for nearly 90% of cardiac tumors . Rhabdomyomas are usually located in the ventricles; however, they can also be found intramurally, in the vena cava or in the atria .…”

“…Rhabdomyomas are usually located in the ventricles; however, they can also be found intramurally, in the vena cava or in the atria . Thanks to high‐resolution ultrasound, echocardiography, and fetal magnetic resonance, in the last 10 years, their detection has increased significantly, with the majority being identified prenatally during the second and third trimesters of pregnancy . They are described by ultrasonography as hyperechoic, rounded, and homogeneous nodules .…”

“…They are described by ultrasonography as hyperechoic, rounded, and homogeneous nodules . When isolated, 50% to 70% of rhabdomyomas are associated with tuberous sclerosis complex (TSC), but this percentage increases to 80% to 90% when multiple tumors are present . TSC is an autosomal dominant genetic entity caused by mutations in the TSC1 and TSC2 genes located at 9q34 and 16p13.3, respectively, and has a prevalence of 1/6000 to 1/10 000 among live newborns .…”

Echocardiographic study of cardiac rhabdomyomas from fetuses to children: about a tunisian hospital experience

“…There is no specific guidelines on how to follow up this group of patients [11]. Surgical tumor removal is considered in significant obstructive lesions with altered hemodynamic state or severe arrhythmia [12][13][14].…”