Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals

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. © 2015 Wiley Periodicals, Inc.

Hardikar综合征是Hardikar等人在1992年的多个先天性异常综合征，描述了两个患有胆汁获全的人，唇裂/波纹，视网膜色素沉着，肠道异常，肠道异常58–1061; Poley and Proud（2008）AM J Med Genet A Part A 146A：2473–2479]，他的胆汁淤积性肝脏疾病最终需要肝脏疾病，在我们的机构中​​，在14岁时继续遵循，在14岁时，她在饮食高度的评估中得到了高度的评估。尖端。研究还揭示了她的颈动脉动脉瘤，据我们所知，这些血管异常尚未在此处进行摩尔群，并没有进一步讨论，这些血管综合症尚未在此处讨论，这些血管异常尚未在此处讨论。我们的建议。我们希望扩大这种非常罕见的疾病的表型，以进一步帮助临床医生对这些人的管理和监视。