Table 1 - uploaded by Hugues Gentillon
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It was the second pregnancy of an otherwise healthy married couple. The fetus (male) had detailed echocardiography monitoring in the second half of the pregnancy due to progression of cardiomegaly, and echocardiographic features of congestive heart failure. Marfan syndrome was suspected based on cardiac anomalies. For the first time, the rupture of...
Citations
... [4] It may also be suspected in instances of unexplained development of dilated cardiomyopathy in the third trimester [9] Earlier diagnosis is possible in cases of familial MFS with a preidentified disease-causing allele by Chorionic Villous Sampling at 10-12 weeks of gestation, and amniocentesis at 15-18 weeks of gestation, though the disease spectrum and severity cannot be ascertained, [4] and it is not possible to establish whether the phenotype will be neonatal or classical MFS. [10] Early recognition of neonatal MFS is vital to allow for attempted multidisciplinary planning and prognosis modification, though the prognosis is usually quite grim, especially in developing countries where availability and access to tertiary level institutes with state of the art cardiothoracic-vascular surgical facilities are limited. [1] Medical therapy of congestive heart failure arising from the cardiac lesions is often unsuccessful, without surgical intervention. ...
Background: Neonatal Marfan syndrome (MFS) lies at the most severe end of the MFS clinical spectrum, sharing some characteristics of MFS, but with a more severe clinical phenotype, slightly variable genotype, and a poor prognosis. We report a case of neonatal MFS diagnosed antenatally and in whom diagnosis was established postnatally by clinical exome sequencing. Clinical Description: A routine antenatal ultrasonography identified a dilated aortic root, oligohydramnios, fetal femur, and long bones length >99th percentile for the period of gestation findings in a fetus at 35 weeks of gestation. The baby was born by a cesarean section due to nonprogress of the labor. At birth, he had multiple anomalies including bilaterally cloudy cornea, bluish sclera, long slender fingers, hyperflexion of the wrist, ankle joints, and pulsatile precordium. Management: The patient developed severe respiratory distress immediately after birth and was intubated and initiated on positive pressure ventilation. The baby was supportive of fluid and inotropic management. The diagnosis was established based on characteristic echocardiographic findings and identification of a likely pathogenic variant disrupting the p.Cys1068 amino acid residue in FBN1, located at exon 26, which is the “neonatal” region known to be associated with neonatal MFS. The baby succumbed. Conclusion: Although neonatal MFS has a poor prognosis, multidisciplinary intervention is required to determine the best course of action.
Keywords: Marfan syndrome, neonate, prenatal
