title: Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes.
abstract: Cardiac rhabdomyomas are benign cardiac tumours with few cardiac complications, but with a known association to tuberous sclerosis that affects the neurologic outcome of the patients. We have analysed the long-term cardiac and neurological outcomes of patients with cardiac rhabdomyomas in order to allow comprehensive prenatal counselling, basing our findings on the records of all patients seen prenatally and postnatally with an echocardiographic diagnosis of cardiac rhabdomyoma encountered from August, 1982, to September, 2007. We analysed factors such as the number and the location of the tumours to establish their association with a diagnosis of tuberous sclerosis, predicting the cardiac and neurologic outcomes for the patients.Cardiac complications include arrhythmias, obstruction of the ventricular outflow tracts, and secondary cardiogenic shock. Arrhythmias were encountered most often during the neonatal period, with supraventricular tachycardia being the commonest rhythm disturbance identified. No specific dimension or location of the cardiac rhabdomyomas predicted the disturbances of rhythm.The importance of the diagnosis of tuberous sclerosis is exemplified by the neurodevelopmental complications, with four-fifths of the patients showing epilepsy, and two-thirds having delayed development. The presence of multiple cardiac tumours suggested a higher risk of being affected by tuberous sclerosis. The tumours generally regress after birth, and cardiac-related problems are rare after the perinatal period. Tuberous sclerosis and the associated neurodevelopmental complications dominate the clinical picture, and should form an important aspect of the prenatal counselling of parents.
authors.affiliation: Department of OBGYN and Divisions of Pediatric Cardiology and Neurology, University Hospital of Lausanne, Switzerland.
authors.forename: Sabrina C
authors.initials: SC
authors.lastname: Degueldre
authors.forename: Priya
authors.initials: P
authors.lastname: Chockalingam
authors.forename: Yvan
authors.initials: Y
authors.lastname: Mivelaz
authors.forename: Stefano
authors.initials: S
authors.lastname: Di Bernardo
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Pfammatter
authors.forename: Catherine
authors.initials: C
authors.lastname: Barrea
authors.forename: Nicole
authors.initials: N
authors.lastname: Sekarski
authors.forename: Pierre-Yves
authors.initials: PY
authors.lastname: Jeannet
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Fouron
authors.forename: Yvan
authors.initials: Y
authors.lastname: Vial
authors.forename: Erik J
authors.initials: EJ
authors.lastname: Meijboom
mesh_terms: D002648:Child; D015331:Cohort Studies; D002658:Developmental Disabilities / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D037001:Directive Counseling / Q000379:methods*; D018450:Disease Progression; D004452:Echocardiography / Q000379:methods; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005500:Follow-Up Studies; D005865:Gestational Age; D006338:Heart Neoplasms / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009483:Neuropsychological Tests; D011247:Pregnancy; D011295:Prenatal Care; D011296:Prenatal Diagnosis / Q000379:methods; D012189:Retrospective Studies; D012207:Rhabdomyoma / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology / Q000473:pathology; D014402:Tuberous Sclerosis / Q000150:complications / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology; D016216:Ultrasonography, Prenatal