TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.104060
Abstract: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by non-cancerous tumors in multiple organs including the brain, kidney, lung, heart, and skin. We encountered a Japanese family consisting of two siblings (a… read more here.
Keywords: two aberrant; aberrant transcripts; deletion; cardiac rhabdomyomas ... See more keywords
Venoarterial extracorporeal membrane oxygenation and implantable cardioverter-defibrillator implantation in a hemodynamically unstable infant with ventricular tachycardia from multiple cardiac rhabdomyomas
Sign Up to like & getrecommendations! Published in 2019 at "HeartRhythm Case Reports"
DOI: 10.1016/j.hrcr.2018.12.009
Abstract: Introduction Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by benign tissue hamartomas in multiple organ systems, including cardiac rhabdomyomas. Though prevalent in TSC, cardiac tumors are rare in children, occurring in about 0.03%–0.17%.… read more here.
Keywords: rhabdomyomas; venoarterial extracorporeal; ventricular tachycardia; extracorporeal membrane ... See more keywords
P641 Management of cardiac rhabdomyoma in neonates
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.972
Abstract: Introduction Cardiac tumors are rare in infant. Most commonly it’s a Rhabdomyoma with an incidence of 0.02% to 0.08%. These cardiac rhabdomyomas are usually multiple with a preferential location in the ventricular myocardium (up to… read more here.
Keywords: management; cardiac rhabdomyomas; cardiac rhabdomyoma; p641 management ... See more keywords
Combination Percutaneous and Medical Management of Cardiac Rhabdomyomas Obstructing Tricuspid Valve Inflow
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DOI: 10.1542/peds.146.1_meetingabstract.460
Abstract: Introduction: Cardiac rhabdomyomas can be prenatally diagnosed in patients with tuberous sclerosis complex. Many neonates require no intervention in early life other than close monitoring for regression of tumor over the period of months to… read more here.
Keywords: percutaneous medical; cardiac rhabdomyomas; rhabdomyomas; combination percutaneous ... See more keywords