Cardiac rhabdomyoma and tuberous sclerosis: Prenatal diagnosis and follow-up

2003 ◽  
Vol 70 (1) ◽  
pp. 87-89 ◽  
Author(s):  
Bibhuti B. Das ◽  
Jayendra Sharma
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Cardiac Rhabdomyoma

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

2017 ◽  
Vol 5 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Ramush Bejiqi ◽  
Ragip Retkoceri ◽  
Hana Bejiqi
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Fetal Echocardiography ◽  
Tumour Size ◽  
Primary Tumour ◽  
Postnatal Period ◽  
Single Centre ◽  
Cardiac Rhabdomyoma ◽  
Ultrasound Evaluation

BACKGROUND: Cardiac 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.

Electrocardiographic changes in patients with cardiac rhabdomyomas associated with tuberous sclerosis

2003 ◽  
Vol 13 (3) ◽  
pp. 258-263 ◽  
Author(s):  
Junko Shiono ◽  
Hitoshi Horigome ◽  
Seiyo Yasui ◽  
Tomoyuki Miyamoto ◽  
Miho Takahashi-Igari ◽  
...  
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Left Ventricular Hypertrophy ◽  
Tuberous Sclerosis ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Cardiac Rhabdomyoma ◽  
Ventricular Cavity ◽  
Electrocardiographic Changes

Background:Cardiac rhabdomyomas associated with tuberous sclerosis induce various abnormalities in the electrocardiogram. Electrocardiographic evidence of ventricular hypertrophy may appear if the tumour is electrically active. To our knowledge, electrocardiographic evidence of ventricular hypertrophy has been reported only in association with congestive heart failure. Follow-up studies of changes in electrocardiographic findings are also lacking.Methods:We studied 21 consecutive patients with cardiac rhabdomyoma associated with tuberous sclerosis, 10 males and 11 females, aged from the date of birth to 9 years at diagnosis. The mean period of follow-up was 53 months. None of the patients developed congestive heart failure. We evaluated the electrocardiographic changes during the follow-up, and their association with echocardiographic findings.Results:Of the 21 patients, 12 showed one or more abnormalities on the electrocardiogram at presentation, with five demonstrating right or left ventricular hypertrophy. In all of these five cases, the tumours were mainly located in the respective ventricular cavity. In one patient with a giant tumour expanding exteriorly, there was marked left ventricular hypertrophy on the electrocardiogram. Followup studies showed spontaneous regression of the tumours in 12 of 19 patients, with abnormalities still present in only 7 patients. A gradual disappearance of left ventricular hypertrophy as seen on the electrocardiogram was noted in the patient with marked left ventricular hypertrophy at presentation in parallel with regression of the tumour.Conclusions:The presence of cardiac rhabdomyomas in patients with tuberous sclerosis might explain the ventricular hypertrophy seen on the electrocardiogram through its electrically active tissue without ventricular pressure overload or ventricular enlargement, although pre-excitation might affect the amplitude of the QRS complex. Even in cases with large tumours, nonetheless, the electric potential might not alter the surface electrocardiogram if the direction of growth of the tumour is towards the ventricular cavity. In many cases, electrocardiographic abnormalities tend to disappear, concomitant with regression of the tumours.

scholarly journals Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study

2018 ◽  
Vol 49 (03) ◽  
pp. 193-199 ◽  
Author(s):  
Daniel Ebrahimi-Fakhari ◽  
Ludwig Gortner ◽  
Martin Poryo ◽  
Michael Zemlin ◽  
Alfons Macaya-Ruiz ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Symptoms ◽  
Medical Center ◽  
Interquartile Range ◽  
University Hospital ◽  
Cardiac Rhabdomyoma ◽  
Cutaneous Manifestations ◽  
Ocular Manifestations ◽  
Made In

AbstractTuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. We conducted a retrospective analysis of two cohorts (Vall d'Hebron University Hospital [HVH], Barcelona, Spain, 1982–2015, and at Saarland University Medical Center [UKS], Homburg, Germany, 1998–2015) to assess prevalence and treatment of TSC associated manifestations and to evaluate if the follow-up was in line with published recommendations. This was considered if more than 15% of patients did not receive adequate examination with regard to potential organ involvement. A definite diagnosis was made in 52 patients (96%), and a possible diagnosis was made in 2 patients (4%). Thirty-four (63%) patients were from HVH and 20 (37%) from UKS. Median age at first presentation was 6 months (interquartile range: 0–38 months), and median time of follow-up was 6 years (interquartile range: 2–13 years). Clinical symptoms that led to a diagnosis of TSC were cardiac rhabdomyoma (22/54), epilepsy (20/54), and cutaneous manifestations (4/54). Assessment of neuropsychiatric, renal, and ocular manifestations was inadequate in both hospitals, whereas cutaneous manifestation was inadequate at UKS only. Our data demonstrate insufficient examinations in a substantial number of TSC patients with regard to neuropsychiatric, renal, ocular, and cutaneous manifestations. The recently published guidelines may prove valuable in establishing a more comprehensive approach.

Cardiac rhabdomyoma in childhood tuberous sclerosis

1995 ◽  
Vol 5 (2) ◽  
pp. 166-171 ◽  
Author(s):  
Jung Yun Choi ◽  
Eun Jung Bae ◽  
Chung Il Noh ◽  
Yong-Soo Yoon ◽  
Yong Seung Hwang
Keyword(s):  
Tuberous Sclerosis ◽  
Spontaneous Regression ◽  
High Rate ◽  
Cardiac Tumors ◽  
Complete Regression ◽  
Cardiac Rhabdomyoma ◽  
Cross Sectional ◽  
One Year ◽  
Almost All

AbstractWe studied 52 children in order to assess the prevalence, natural history, and electrophysiologic effects of cardiac rhabdomyoma in tuberous sclerosis. Their ages ranged from one day to 12 years (median age 1.33 year). The tumors in the heart were found in 22 patients through cross-sectional echocardiography. The overall prevalence of cardiac rhabdomyoma was 42%. The prevalence of cardiac tumors in patients first seen in infancy was 77%, and that in patients over one year of age was 31%. Those with cardiac tumors diagnosed in infancy had more tumors per person than did the patients diagnosed after infancy, and the tumors were smaller in the patients diagnosed over one year of age. Follow-up cross-sectional echocardiography showed that almost all tumors showed spontaneous regression. Complete regression occurred more commonly in younger patients, and in those with smaller tumors. About 70% of patients with cardiac tumors had either normal findings or infrequent premature contractions on 24hour Holter monitorings. The rest of the patients with cardiac tumors showed either frequent premature contractions, atrioventricular block, or atrial tachycardia, but antiarrhythmic medication was rarely required. Cross-sectional echocardiography, therefore, seems to be the best diagnostic tool for screening cardiac rhabdomyomas in patients with tuberous sclerosis. The tumors may be managed more conservatively in view of their high rate of spontaneous regression and rather rare association with symptomatic arrhythmias.

scholarly journals Fetal cardiac rhabdomyoma as sonographic sign of tuberous sclerosis complex - a diagnosis not to be missed.

2021 ◽  
Author(s):  
Dan Boitor Borza ◽  
Roxana Popa Stanila ◽  
Gabriela Zaharie ◽  
Monica Hasmasanu ◽  
Daniel Muresan
Keyword(s):  
Prenatal Diagnosis ◽  
Key Words ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurological Outcome ◽  
Careful Consideration ◽  
Cardiac Rhabdomyoma ◽  
Poor Neurological Outcome ◽  
Sonographic Sign

Fetal cardiac rhabdomyoma should trigger the awareness of potential coexisting tuberous sclerosis complex that can lead to a poor neurological outcome. This condition is not only uncommon but can be easily unrecognized prenatally in the absence of a meticulous neurosonogram and MRI. We emphasize that careful consideration of all prenatal facilities is needed to confirm the diagnosis of tuberous sclerosis complex as early as possible during pregnancy. Key words: cardiac rhabdomyoma; tuberous sclerosis; prenatal diagnosis

Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound

1986 ◽  
Vol 6 (4) ◽  
pp. 283-289 ◽  
Author(s):  
H. Journel ◽  
M. Roussey ◽  
M. H. Plais ◽  
J. Milon ◽  
C. Almange ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Cardiac Rhabdomyoma

scholarly journals VP20.09: Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis

2021 ◽  
Vol 58 (S1) ◽  
pp. 181-181
Author(s):  
M. Zamora Lapiedra ◽  
G. Molina i Olivella ◽  
C.L. Heredia ◽  
S. Pina ◽  
J. Costa Pueyo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Cardiac Rhabdomyoma
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