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Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature
Author(s) -
Ritter Alyssa,
Cuddapah Sanmati,
Degenhardt Karl,
Kasperski Stefanie,
Johnson Mark P.,
O'Connor Matthew J.,
AhrensNicklas Rebecca
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61123
Subject(s) - neurofibromatosis , medicine , neurofibromin 1 , cardiomyopathy , family history , prenatal diagnosis , differential diagnosis , fetus , heart disease , genetic counseling , pathology , cardiology , pregnancy , heart failure , genetics , biology
Neurofibromatosis type I (NF1) is a relatively common genetic disorder characterized by neurocutaneous lesions, neurofibromas, skeletal anomalies, iris hamartomas, and predisposition to other tumors. NF1 results from heterozygous loss‐of‐function mutations in neurofibromin ( NF1 ), and diagnosis is most often made using clinical diagnostic criteria. Cardiac manifestations of NF1 include congenital heart disease (such as valvar pulmonary stenosis), left ventricular hypertrophy, and adult‐onset pulmonary hypertension. Prenatal features of NF1 are often nonspecific and diagnoses are infrequently made prenatally without a known family history. Herein, we report the first case, to the best of our knowledge, of fetal cardiomyopathy as the presenting feature in NF1 and review NF1‐related left ventricular hypertrophy. NF1 should be considered in the differential diagnosis for fetuses with cardiomyopathy, even in the absence of a known family history of the condition.