Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis.
Neonatal Marfan syndrome is a very rare subset of the classical Marfan syndrome with pronounced phenotypic expression especially of the cardiovascular manifestations. It is associated with a very poor prognosis, with approximately 50% of affected infants dying from cardiac failure during the first year of life. We present a newborn with the classical phenotype of neonatal Marfan syndrome. Within few hours after birth, progressive and refractory heart failure developed. Postmortal molecular study revealed an unusually large deletion of exons 24-26 within the so-called neonatal region of the gene FBN1, which might explain the unfavourable course of the disease in our patient.
Apitz
C
C
Abteilung Kinderheilkunde II, Universitäts-Kinderklinik Tübingen, Hoppe-Seyler-Strasse 1, Tübingen, Germany. christian.apitz@med.uni-tuebingen.de
Mackensen-Haen
S
S
Girisch
M
M
Kerst
G
G
Wiegand
G
G
Stuhrmann
M
M
Niethammer
K
K
Behrwind
G
G
Hofbeck
M
M
D002872:Chromosome Deletion; D018450:Disease Progression; D004452:Echocardiography; D005091:Exons / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006333:Heart Failure / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D009206:Myocardium / Q000473:pathology; D010641:Phenotype; D011026:Pneumopericardium / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D011030:Pneumothorax / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D011379:Prognosis; D018633:Pulmonary Atresia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D014262:Tricuspid Valve Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines