title: Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.
abstract: Hardikar syndrome is a multiple congenital anomaly syndrome first characterized in 1992 by Hardikar et al. to describe two individuals with cholestasis, cleft lip/palate, retinal pigmentation, intestinal abnormalities, and genitourinary anomalies. Between 1992 and 2002, four individuals with Hardikar syndrome were reported in the literature. The fourth individual [Maluf et al. (2002), Transplantation 74:1058-1061; Poley and Proud (2008) Am J Med Genet Part A 146A:2473-2479], who had progressive cholestatic liver disease ultimately requiring liver transplantation, has continued to be followed at our institution. Recently, at the age of 14 years, during an evaluation for refractory hypertension, she was found to have developed coarctation of the aorta that was treated with aortic angioplasty and stenting, dramatically improving her hypertension. Further vascular investigation also revealed a small aneurysm of her carotid artery requiring neurosurgical evaluation and anticoagulant therapy. To our knowledge, these vascular anomalies have not been reported in Hardikar syndrome and the high association of congenital heart disease in the individuals with Hardikar syndrome has not been further addressed. Herein, we discuss this additional clinical information, speculate briefly on possible molecular etiologies, and discuss potential cardiac surveillance recommendations. We hope that broadening the known phenotype of this very rare disorder will further aid clinicians in their management and surveillance for these individuals.
authors.affiliation: Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
authors.forename: Kaitlin M
authors.initials: KM
authors.lastname: Ryan
authors.affiliation: Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.|Division of Cardiology, Children's Hospital of The King's Daughters, Norfolk, Virginia.
authors.forename: Alexander R
authors.initials: AR
authors.lastname: Ellis
authors.affiliation: Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.|Division of Nephrology, Children's Hospital of The King's Daughters, Norfolk, Virginia.
authors.forename: Reem
authors.initials: R
authors.lastname: Raafat
authors.affiliation: Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Elizabeth J
authors.initials: EJ
authors.lastname: Bhoj
authors.affiliation: Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
authors.affiliation: Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Dong
authors.initials: D
authors.lastname: Li
authors.affiliation: Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.|Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
authors.forename: Samantha
authors.initials: S
authors.lastname: Schrier Vergano
mesh_terms: D000783:Aneurysm / Q000209:etiology* / Q000473:pathology; D001017:Aortic Coarctation / Q000209:etiology* / Q000473:pathology; D002340:Carotid Artery Diseases / Q000209:etiology* / Q000473:pathology; D002779:Cholestasis / Q000150:complications* / Q000473:pathology; D002972:Cleft Palate / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011379:Prognosis; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000473:pathology
keywords: Hardikar; cholestasis; congenital; hepatic; hydronephrosis