Severe arterial tortuosity in an asymptomatic infant with coarctation.

W e present images of an asymptomatic 14-month-old girl in whom a heart murmur was noted incidentally at 9 months of age during a mild bronchiolitic illness. She is the second-born child to nonconsanguineous white parents. There is no paternal family history of tall stature, sudden death, or cardiovascular or musculoskeletal problems. The father is 43 years old and 170 cm tall and had a normal echocardiogram. There is no family history of Marfan syndrome or Loeys-Dietz syndrome. The mother was adopted and her family history is not known. She is 46 years old, 161 cm tall, with well-treated hypothyroidism. Her echocardiogram showed normal intracardiac anatomy and only mild left ventricular hypertrophy. The other sib-ling, 4 years of age is well with normal echocardiographic findings. Our patient was born after an uneventful pregnancy following in vitro fertilization with intracytoplasmic sperm injection. Prenatal scanning was normal with no evidence of congenital heart disease. She was delivered by emergency cesarean delivery with breech presentation, with a birth weight of 3.045 kg. At birth, no murmur or abnormalities were noted except for a lip hemangioma, which has since regressed. She developed without concerns until the age of 8 months when she presented with bronchiolitis. Examination at the age of 14 months showed the head circumference on the 50th centile (47 cm) and height on the 25th centile (76 cm). She had minimal dysmorphic features with full cheeks, short philtrum, ankyloglossia, no cleft palate but uvula singula, low-set ears, and a facial hemangioma. She had bilateral clinodactyly. Cardiovascular examination was unremarkable except for a soft ejection systolic murmur best heard at the upper left sternal edge. Peripheral pulses were all palpable, and 4-limb blood pressure was normal (right arm, 99/56 mm Hg; left arm, 95/60 mm Hg; right leg, 109/78 mm Hg; left leg, 101/69 mm Hg). Formal ophthalmological examination showed normal optic discs without tortuosity of the retinal vessels and no evidence of lens dislocation. Cranial and abdominal ultrasounds were normal. Radiography of the chest revealed widening of the superior mediastinum (Figure 1). Echocardiography revealed normal intracardiac anatomy with mild concentric left ven-tricular hypertrophy. The appearances of the aortic arch were extremely atypical with generalized dilatation and tortuos-ity with significant flow acceleration through the descending aorta (Movies I and II in the online-only Data Supplement). Both angiography (Figures 2 and 3; Movie III in the online-only Data Supplement) and contrast-enhanced computed tomography demonstrated …