01 December 2004
A case report of Noonan’s syndrome with pulmonary valvar stenosis and coronary aneurysms
Marios Loukas, Marek Dąbrowski, Michal Kantoch, Witold Rużyłło, Johannes Waltenberger, Petros GiannikopoulosMed Sci Monit 2004; 10(12): CS80-83 :: ID: 13238
Abstract
Background:Noonan syndrome is a rare disease, mainly presenting with malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. We report a case of Noonan syndrome with giant coronary aneurysms.Case Report:A young woman with the phenotypic characteristics of Noonan’s syndrome presented with severe pulmonary stenosis and giant coronary aneurysms. Cross sectional echocardiography showed valvar and subvalvar pulmonary stenosis. The valve itself was thickened and dysplastic, a characteristic that is typical of Noonan’s syndrome. In addition to the usual abnormalities of the pulmonary valve and the ventricular myocardium, the patient showed a wide spectrum of previously unreported coronary aneurysms.Conclusions:These additional findings support the hypothesis that a vasculitic process has been superimposed on the connective tissue defect associated with Noonan’s syndrome. Furthermore, since the pathogenesis of the condition remains unclear, this case stresses the need to look carefully for abnormalities co-expressed in Noonan’s syndrome.
Keywords: Coronary Aneurysm - complications, Coronary Aneurysm - diagnosis, Coronary Aneurysm - ultrasonography, Coronary Vessels - pathology, Myocardium - ultrastructure, Noonan Syndrome - diagnosis, Noonan Syndrome - ultrasonography, Pulmonary Subvalvular Stenosis - complications, Pulmonary Subvalvular Stenosis - diagnosis, Pulmonary Subvalvular Stenosis - ultrasonography, Pulmonary Valve - pathology, Pulmonary Valve - ultrasonography, Pulmonary Valve Stenosis - diagnosis, Pulmonary Valve Stenosis - pathology, Pulmonary Valve Stenosis - ultrasonography, Coronary Aneurysm - ultrasonography, Coronary Angiography, Coronary Vessels - ultrasonography, Echocardiography, Myocardium - ultrastructure, Noonan Syndrome - ultrasonography, Pulmonary Subvalvular Stenosis - ultrasonography, Pulmonary Valve - ultrasonography, Pulmonary Valve Stenosis - ultrasonography
Editorial
01 March 2024 : Editorial
Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and Transfusion-Dependent β-ThalassemiaDOI: 10.12659/MSM.944204
Med Sci Monit 2024; 30:e944204
In Press
18 Mar 2024 : Clinical Research
Sexual Dysfunction in Women After Tibial Fracture: A Retrospective Comparative StudyMed Sci Monit In Press; DOI: 10.12659/MSM.944136
21 Feb 2024 : Clinical Research
Potential Value of HSP90α in Prognosis of Triple-Negative Breast CancerMed Sci Monit In Press; DOI: 10.12659/MSM.943049
22 Feb 2024 : Review article
Differentiation of Native Vertebral Osteomyelitis: A Comprehensive Review of Imaging Techniques and Future ...Med Sci Monit In Press; DOI: 10.12659/MSM.943168
23 Feb 2024 : Clinical Research
A Study of 60 Patients with Low Back Pain to Compare Outcomes Following Magnetotherapy, Ultrasound, Laser, ...Med Sci Monit In Press; DOI: 10.12659/MSM.943732
Most Viewed Current Articles
16 May 2023 : Clinical Research
Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...DOI :10.12659/MSM.940387
Med Sci Monit 2023; 29:e940387
17 Jan 2024 : Review article
Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron VariantDOI :10.12659/MSM.942799
Med Sci Monit 2024; 30:e942799
14 Dec 2022 : Clinical Research
Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase LevelsDOI :10.12659/MSM.937990
Med Sci Monit 2022; 28:e937990
01 Jan 2022 : Editorial
Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...DOI :10.12659/MSM.935952
Med Sci Monit 2022; 28:e935952