Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1

Aneurysmal coronary artery disease (ACAD) has been reported rarely in patients with neurofibromatosis type 1 (NF1), mostly in adults. We report on a female newborn affected by NF1 with ACAD disclosed during investigation for an abnormal prenatal ultrasound along with a review of the previously repor...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2023-09, Vol.191 (9), p.2422-2427
Main Authors: Corona‐Rivera, Jorge Román, Barrios‐Prieto, Ernestro, Rivera‐Ramírez, Berenice, Sánchez‐Uribe, Enndy Hollyver, Cortés‐Pastrana, Rocío Carolina, Aguilera, Cristhian Ernesto Ramírez, Anda‐Camacho, Roberto Gerardo, Peña‐Padilla, Christian, Bobadilla‐Morales, Lucina, Corona‐Rivera, Alfredo
Format: Article
Language:English
Subjects:
Aneurysm
Aneurysms
Angiography
café‐au‐lait spots
Cardiovascular disease
Computed tomography
coronary artery
Coronary artery disease
Coronary vessels
Echocardiography
Genetic disorders
Heart
Heart diseases
Myocardial infarction
Neurofibromatosis
Neurological disorders
Recklinghausen's disease
sinus of Valsalva
Tumors
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Summary:Aneurysmal coronary artery disease (ACAD) has been reported rarely in patients with neurofibromatosis type 1 (NF1), mostly in adults. We report on a female newborn affected by NF1 with ACAD disclosed during investigation for an abnormal prenatal ultrasound along with a review of the previously reported cases. The proposita had multiple café‐au‐lait spots and had no cardiac symptoms. Echocardiography, and cardiac computed tomography angiography confirmed aneurysms on the left coronary artery, left anterior descending coronary artery, and of the sinus of Valsalva. Molecular analysis detected the pathogenic variant NM_001042492.3(NF1):c.3943C>T (p.Gln1315*). Literature findings on ACAD in NF1 indicated that this mostly occurs in males, showing predilection for the development of aneurysms at the left anterior descending coronary artery, and manifesting predominantly as acute myocardial infarction, inclusively in teenagers, though it may be also asymptomatic as in our case. This report documents the first case of ACAD in a patient with NF1 diagnosed at birth, emphasizing that its early diagnosis is essential to prevent potential life‐threatening events attributable directly to coronary lesions.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.63321