Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature.
Alyssa L RitterSanmati CuddapahKarl DegenhardtStefanie KasperskiMark P JohnsonMatthew J O'ConnorRebecca Ahrens-NicklasPublished in: American journal of medical genetics. Part A (2019)
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.
Keyphrases
- signaling pathway
- lps induced
- pi k akt
- left ventricular
- nuclear factor
- oxidative stress
- pulmonary hypertension
- heart failure
- congenital heart disease
- healthcare
- machine learning
- gene expression
- cell proliferation
- deep learning
- mitral valve
- genome wide
- acute coronary syndrome
- coronary artery disease
- left atrial
- cardiac resynchronization therapy
- copy number