Heart Failure in a Patient With Noonan Syndrome

Chevallier, Stéphane; Cook, Stéphane; Goy, Jean‐Jácques

doi:10.1161/circulationaha.110.010025

Cited by 2 publications

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“…The most common cardiac anomaly is pulmonary stenosis. This heart anomaly is associated with NS because of the presence of pulmonary stenosis in half of the patients (19,20). Only mild mitral insufficiency and dilatation of the aortic root were found in the present case.…”

Section: Introductionsupporting

confidence: 42%

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Noonan Syndrome Eye Signs: A Case Report

Ayyıldız¹

2017

Med J Islamic World Acad Sci

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Noonan syndrome (NS) is a rare autosomal dominant inherited disease characterized by short stature, facial abnormalities, congenital heart defects, and urogenital malformations. It is important to know that eye signs are more frequent in patients and usually occur as hypertelorism, downward-sloping palpebral fissures, epicentral folds, ptosis, fracture defects, strabismus, amblyopia, nystagmus, coloboma, keratoconus, and, rarely, cataracts. A 14-year-old male patient suspected of having NS due to inferior pectus excavatum and diagnosed with NS on genetic evaluation was referred to the clinic to evaluate the ocular findings obtained from the ophthalmic examination.This rare syndrome is characterized by heterogeneous group involvement in various organs and requires a multidisciplinary approach to ensure early diagnosis and treatment of multiple malformations.

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Section: Introductionsupporting

confidence: 42%

“…XO/XY mosaicism, fetal hydantoin syndrome, fetal myolin syndrome, and fetal alcohol syndrome should also be considered in the differential diagnosis of this syndrome (17). Growth hormone therapy has been found to be beneficial for these patients in recent years (20).…”

Section: Introductionmentioning

confidence: 99%