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Clinical and genetic description of patients with prenatally identified cardiac tumors
Author(s) -
MariscalMendizábal Luisa F.,
SevillaMontoya Rosalba,
MartínezGarcía Alfonso J.,
AlaezVerson Carmen,
MonroyMuñoz Irma E.,
PérezDurán Javier,
CerónAlbarrán Jorge A.,
CarrilloSánchez Karol,
MolinaGaray Carolina,
FloresLagunes Luis L.,
JimenezOlivares Marco,
AguinagaRíos Mónica
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5521
Subject(s) - tuberous sclerosis , tsc1 , prenatal diagnosis , tsc2 , medicine , fetus , family history , genetic counseling , heart disease , pediatrics , pregnancy , pathology , genetics , biology , apoptosis , pi3k/akt/mtor pathway
Objective Rhabdomyomas are the most common type of prenatal cardiac tumors. When isolated, 50% to 70% are related to the tuberous sclerosis complex (TSC). The aim of this study was to reinforce the importance of additional clinical data in patients with prenatal heart tumors. Methods From 2010 to 2017, 10 prenatally detected cardiac tumors were referred to the Genetics Department, and a complete family history was taken. Postnatal echocardiographic and full clinical evaluation were completed. Next generation sequencing (NGS) of the TSC1 and TSC2 genes was performed. Results The 10 cases were postnatally confirmed as rhabdomyomas. Four de novo and four family cases were detected, and only one patient was previously aware of the TSC diagnosis. Molecular analysis by NGS was performed in four patients with three TSC2 mutations, two of which were previously reported and one not. Discussion Prenatal cardiac tumors are associated with TSC in 60% of cases. Prenatal diagnosis of cardiac tumors permits a further analysis of family members using the fetus as a clue for familial disease diagnosis.