An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and Noonan syndromes

Congenital Heart Disease
Holly C DeSenaDouglas S Moodie

Abstract

It is important to recognize the possibility of a syndromic etiology of cardiac defects when dysmorphic features and other congenital defects are present. We report a patient who presented with atrial fibrillation and was found to have an abnormal mitral valve, congenital aneurysm of the left atrial appendage, and features consistent with both Cardiofaciocutaneous syndrome and Noonan syndrome. The congenital aneurysm of the left atrial appendage was a previously unreported cardiac presentation for either syndrome. Diagnostic considerations based upon his genotype and phenotype are discussed, along with his unique cardiac presentation and treatment.

References

Jan 1, 1987·Journal of Medical Genetics·J E Allanson
May 20, 1999·The Australasian Journal of Dermatology·C SchepisC Romano
Feb 5, 2004·The Annals of Thoracic Surgery·Yoshihisa TanoueKoichi Sagawa
Apr 6, 2004·The Annals of Thoracic Surgery·Bob KiaiiFriedrich W Mohr
Mar 31, 2005·The Annals of Thoracic Surgery·Alok MathurRobert F Rea
Aug 30, 2005·Annual Review of Genomics and Human Genetics·Marco Tartaglia, Bruce D Gelb
Feb 14, 2006·Nature Genetics·Tetsuya NiihoriYoichi Matsubara
Jul 11, 2006·Journal of Medical Genetics·A RobertsG Neri
Oct 24, 2006·Journal of Medical Genetics·Martin ZenkerKerstin Kutsche
Apr 7, 2007·Current Opinion in Cardiology·Constance G Weismann, Bruce D Gelb
Jul 24, 2007·Indian Journal of Dermatology, Venereology and Leprology·S Amladi
Jun 27, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Angela E LinBarbara R Pober
Jun 19, 2009·The Journal of Investigative Dermatology·Jamison D FeramiscoHensin Tsao

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Citations

Jul 1, 2014·Echocardiography·Madan Raj AryalRajesh Pradhan
Jun 20, 2020·Birth Defects Research·Giulio CalcagniPaolo Versacci

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