Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex

Bader, Rima S; Chitayat, David; Kelly, Edmond; Ryan, Greg; Smallhorn, Jeffrey F.; Toi, Ants; Hornberger, Lisa K.

doi:10.1067/s0022-3476(03)00494-3

Cited by 172 publications

(68 citation statements)

References 14 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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“…In fetal life, of patients diagnosed with cardiac rhabdomyomas by echocardiography, 75% to 80% are found to satisfy criteria for TSC postnatally. 32–33,24 The presence of multiple ventricular tumors seems to be the finding best associated with TSC. 24 The presence of a family history of TSC also increases the likelihood of TSC.…”

Section: The Natural History and Diagnosis Of Tscmentioning

confidence: 99%

Cardiovascular Manifestations of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria and Surveillance and Management Recommendations From the International Tuberous Sclerosis Consensus Group

Hinton

Prakash

Romp

et al. 2014

JAHA

160

168

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“…Cardiac rhabdomyomas are often the first manifestation of TSC; they are benign, largely asymptomatic tumors that regress with age and rarely require surgery. Magnetic resonance imaging can diagnose cardiac rhabdomyomas in utero; most of these cases are affected with TSC [99,100]. Pulmonary involvement is rare in TSC; the most common lesion is lymphangioleimyomatosis, typically affecting premenopausal adult women [101,102].…”

Section: Tuberous Sclerosis Complexmentioning

confidence: 99%

Hereditary Genodermatoses with Cancer Predisposition

Gerstenblith

Goldstein

Tucker

2010

Hematology/Oncology Clinics of North America

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Synopsis Hereditary genodermatoses with cancer predisposition are reviewed, including Nevoid Basal Cell Carcinoma Syndrome, Neurofibromatosis Types 1 and 2, Tuberous Sclerosis Complex, Xeroderma Pigmentosum, and Dyskeratosis Congenita. Hereditary melanoma is also included, though it differs from the others in several respects. The underlying genetic aberrations causing these syndromes are largely known, allowing novel treatments to be developed for some of these disorders. Early recognition and diagnosis allows for close follow-up and surveillance for associated malignancies.

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Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex

Cited by 172 publications

References 14 publications

Rhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases

Rhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases

Cardiovascular Manifestations of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria and Surveillance and Management Recommendations From the International Tuberous Sclerosis Consensus Group

Hereditary Genodermatoses with Cancer Predisposition

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