Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex

Saada, Julien; Hadj‐Rabia, Smail; Fermont, L; Bidois, J. Le; Bernades-Stein, L.; Martinovic, Jéléna; Sonigo, P.; Dumez, Yves; Bonnet, Damien; Benachi, Alexandra

doi:10.1002/uog.6367

Cited by 36 publications

(22 citation statements)

References 52 publications

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“…Our data mostly conform with the literature in that rhabdomyomas are strong predictors of TSC both when prenatally but especially when postnatally diagnosed [12,30,31]. …”

Section: Discussionsupporting

confidence: 90%

Rhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases

Sciacca

Giacchi

Mattia

et al. 2014

BMC Cardiovasc Disord

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BackgroundRhabdomyomas are the most common type of cardiac tumors in children. Anatomically, they can be considered as hamartomas. They are usually randomly diagnosed antenatally or postnatally sometimes presenting in the neonatal period with haemodynamic compromise or severe arrhythmias although most neonatal cases remain asymptomatic. Typically rhabdomyomas are multiple lesions and usually regress spontaneously but are often associated with tuberous sclerosis complex (TSC), an autosomal dominant multisystem disorder caused by mutations in either of the two genes, TSC1 or TSC2. Diagnosis of tuberous sclerosis is usually made on clinical grounds and eventually confirmed by a genetic test by searching for TSC genes mutations.MethodsWe report our experience on 33 cases affected with rhabdomyomas and diagnosed from January 1989 to December 2012, focusing on the cardiac outcome and on association with the signs of tuberous sclerosis complex. We performed echocardiography using initially a Philips Sonos 2500 with a 7,5/5 probe and in the last 4 years a Philips IE33 with a S12-4 probe. We investigated the family history, brain, skin, kidney and retinal lesions, development of seizures, and neuropsychiatric disorders.ResultsAt diagnosis we detected 205 masses, mostly localized in interventricular septum, right ventricle and left ventricle. Only in 4 babies (12%) the presence of a mass caused a significant obstruction. A baby, with an enormous septal rhabdomyoma associated to multiple rhabdomyomas in both right and left ventricular walls died just after birth due to severe heart failure. During follow-up we observed a reduction of rhabdomyomas in terms of both number and size in all 32 surviving patients except in one child. Eight patients (24,2%) had an arrhythmia and in 2 of these cases rhabdomyomas led to Wolf-Parkinson-White Syndrome. For all patients the arrhythmia spontaneously totally disappeared or was reduced gradually. With regarding to association with tuberous sclerosis, we diagnosed tuberous sclerosis clinically in 31 babies (93,9%).ConclusionRhabdobyomas are tumors with favorable prognosis because they frequently do not cause symptoms and they often regress in numbers and size. Nevertheless, due to frequent association with tuberous sclerosis complex and the resulting neurological impairment, the prognosis can result unfavorable.

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“…Our data mostly conform with the literature in that rhabdomyomas are strong predictors of TSC both when prenatally but especially when postnatally diagnosed [12,30,31]. …”

Section: Discussionsupporting

confidence: 90%

Rhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases

Sciacca

Giacchi

Mattia

et al. 2014

BMC Cardiovasc Disord

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“…TS follows an autosomal dominant hereditary pattern with variable expression, and 50–80% of childhood cases are considered to result from spontaneous mutations. The detection of cardiac tumours, which can be achieved using prenatal echocardiography, should be used as a warning sign for TS during the counselling of at-risk families [2, 3, 9]. …”

Section: Discussionmentioning

confidence: 99%

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

Bejiqi¹,

Retkoceri²,

Bejiqi³

2017

Open Access Maced J Med Sci

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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.

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“…Si se documentan lesiones en otros órganos como por ejemplo a nivel renal o cerebral (nódulos subependimarios o corticales) los que puede confirmarse prenatalmente, el diagnóstico pasaría de ser "probable" o incluso "definitivo" (2). La Esclerosis Tuberosa es una enfermedad de expresividad muy variable, donde un 50 % de los pacientes que tienen rabdomiomas tienen afectación de otros órganos y un 62 % del neurodesarrollo (12) Esta asociación de rabdomiomas, historia familiar, afectación de otros órganos y alteración de neurodesarrollo hace que sea indicación ofrecer resonancia magnética fetal en la búsqueda de lesiones extra cardíacas para un mejor asesoramiento de los padres. Existen reportes de neurosonografias que pueden aportar en el diagnóstico de lesiones subependimarias, aunque existen falsos negativos.…”

Section: El Crecimientounclassified

“…Debe hacerse notar que pueden no documentarse lesiones en la RNM y existir complicaciones neurológicas clínicas, de manera que una RNM normal no predice el pronóstico neurológico del neonato. El desarrollo sicomotor de estos niños puede ser variable aunque es común el retraso sicomotor y convulsiones (12,13). Es frecuente encontrar familiares afectados asintomáticos (que no han sido diagnosticados) a partir del estudio de un feto con hallazgo de rabdomioma (12).…”

Section: El Crecimientounclassified

“…El desarrollo sicomotor de estos niños puede ser variable aunque es común el retraso sicomotor y convulsiones (12,13). Es frecuente encontrar familiares afectados asintomáticos (que no han sido diagnosticados) a partir del estudio de un feto con hallazgo de rabdomioma (12). La consejería a los padres es difícil, pero es importante decir que cuando existen numerosos rabdomiomas debe considerarse a efectos pronósticos que el feto es portador de una esclerosis tuberosa, por otra parte, si el feto tiene sólo un rabdomioma las posibilidades son menores, recordando que pueden pasar desapercibidas en el examen prenatal masas muy pequeñas, las cuales pueden no advertirse siendo necesario reevaluación post natal (13).…”

Section: El Crecimientounclassified

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Diagnóstico prenatal de rabdomioma fetal asociado a esclerosis tuberosa. A propósito de un caso.

López

2017

Rev. chil. obstet. ginecol.

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RESUMENLos rabdomiomas son los tumores benignos cardíacos más frecuentes encontrados en vida fetal y postnatal, asociándose frecuentemente a esclerosis tuberosa. A propósito de un caso manejado en nuestra maternidad el año 2014 se revisó la literatura existente sobre su diagnóstico, manejo, implicancias pronósticas. Se trata de una embarazada de 23 años que fue referida a las 25 semanas a nuestro servicio, el estudio ecográfico revela tres imágenes cardiacas concordantes con rabdomiomas en las paredes ventriculares y el septum. No se detectan otras anormalidades y se controla en forma seriada con ultrasonido. Se realiza a las 33 semanas resonancia nuclear magnética fetal con el objetivo de evidenciar signos de esclerosis tuberosa los cuales se evidencian en el examen y se confirman en exámenes postnatales. Se comenta el diagnóstico diferencial con otros neoplasias benignas cardiacas como teratomas, fibromas y hemangiomas. Las posibles complicaciones de los rabdomiomas dependerán de su ubicación y tamaño, produciendo alteraciones en flujo o bien menos frecuentemente arritmias. La asociación más importante de esta patología es con esclerosis tuberosa de manera que se debe realizar una cuidadosa anamnesis familiar, estudios de imágenes que deben abarcar el SNC, corazón y riñones. Finalmente en ese contexto realizar la mejor consejería a los padres. PALABRAS CLAVE: Rabdomioma, esclerosis tuberosa. ABSTRACTRhabdomyomas are the most common benign cardiac tumors found in fetal and postnatal life, frequently being associated with tuberous sclerosis. In relation to a case handled in our maternity unit in 2014, existing literature on cardiac rhabdomyomas diagnosis, management and prognostic implications, was revised. The case concerned a 25 week pregnant 23 year old patient, who was referred to our facility; ultrasound examination reveals three cardiac images consistent with rhabdomyomas in the ventricular walls and the septum. No other abnormalities are detected and the patient is monitored with a series of ultrasound. At 33 weeks a fetal magnetic resonance imaging is performed in order to show signs of tuberous sclerosis which are noted in the examination and confirmed in post natal tests. Differential diagnosis with other benign cardiac neoplasms such as teratomas, fibromas and hemangiomas is discussed. Possible complications of the rhabdomyomas will depend on its location and size, producing changes in flow or less frequent arrhythmias.

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Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex

Abstract: Objectives To determine the prevalence of specific cerebral lesions of tuberous sclerosis complex (TSC)

Cited by 36 publications

References 52 publications

Rhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases

Rhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases

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

Diagnóstico prenatal de rabdomioma fetal asociado a esclerosis tuberosa. A propósito de un caso.

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