Cardiac features
Both FMD2 patients had a persistent ductus arteriosus, which was part of
a more complex cardiac defect (ventricular septal defect, pulmonary
atresia, bicuspid aortic valve with mild stenosis, progressive aortic
root dilatation (> 3 –z-score), persistent left superior
vena cava draining into the coronary sinus and ectopic atrial
tachycardia) in the patient born at 35 weeks of gestation with the
recurrent P485L variant. The congenital heart defect in this patient was
a major reason for failure to thrive and recurrent admissions in her
early months of life.