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427 Possible Causes for Coarse Facial Features, Congenital Heart Disease, Coronary Artery Disease

  • Mucopolysaccharidosis

    Severe coronary artery disease is well recognized in severe type I mucopolysaccharidosis (Hurler syndrome), but unexpected coronary artery disease occurs in other, "non-Hurler[ncbi.nlm.nih.gov] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1H

    Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[medgen.genetics.utah.edu] : early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces[radiopaedia.org] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[dx.doi.org]

  • Mucopolysaccharidosis 1

    Systems Cardiology Cardiac involvement includes cardiomyopathy, endocardiofibroelastosis, progressive valvular disease, and coronary artery disease.[medicalhomeportal.org] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Caution should be exercised if epinephrine is being considered for use in patients with MPS I due to the increased prevalence of coronary artery disease in these patients.[aldurazyme.com]

  • Mucopolysaccharidosis 2

    A thickened myocardium eventually leads to coronary artery compromise, myocardial disease, and, in conjunction with airway disease, pulmonary hypertension.[emedicine.medscape.com] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms[rare2aware.com]

  • Sick Sinus Syndrome

    A 62-year-old woman had acromegaly and developed congestive heart failure with cardiomyopathy, mitral regurgitation due to chordae rupture, coronary artery disease and sick[ncbi.nlm.nih.gov] The objective of our study was to evaluate the clinical outcome of patients with operated congenital heart disease (CHD), post-operative sinus node dysfunction and atrial[ncbi.nlm.nih.gov] facial features that become more prominent with age.[rarediseases.org]

  • Mucopolysaccharidosis 1S

    As lysosomal storage continues in the heart, cardiomyopathy, sudden death from arrhythmia, coronary artery disease, and cardiovascular collapse may occur.[ncbi.nlm.nih.gov] […] disorders in diseases classified elsewhere 2016 2017 2018 2019 Billable/Specific Code Manifestation Code Code First underlying disease, such as: congenital syphilis ( A50.5[icd10data.com] Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarsefacial features, and abnormalities of the skeleton especially[rarediseases.org]

  • Dilated Cardiomyopathy

    This effect was observed even in the presence of concomitant coronary artery disease.[ncbi.nlm.nih.gov] Since a number of studies have implicated mutations of the transcription factor TBX20 in congenital heart diseases, we investigated the underlying mechanisms, using an unbiased[ncbi.nlm.nih.gov] It is characterized by coarse facial features, developmental delay, short stature, and skeletal deformities.[ncbi.nlm.nih.gov]

  • Lutembacher Syndrome

    artery disease in high-risk patients.[emedicine.medscape.com] Ariane Marelli to bring you a new edition of Clinical Recognition of Congenital Heart Disease.[books.google.com] Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations[rgd.mcw.edu]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    When late repair is accomplished, there is concern regarding progressive coronary artery disease, since the coronary arteries are in the high pressure region.[pharmaexpress.net] Diagnosis and Management of Adult Congenital Heart Disease, by Drs.[books.google.com] facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal[rasopathiesnet.org]

  • Noonan Syndrome

    The challenges faced during anesthetic management of patients with NS could be due to congenital heart diseases, hemostatic disorders, and airway anomalies.[ncbi.nlm.nih.gov] Costello syndrome: Characterized by growth problems, developmental delay or intellectual disability, coarse facial features, curly or sparse fine hair, soft skin with deep[aafp.org] We report a 3-year-old boy with giant and atypical coronary artery aneurysms in the acute phase of Kawasaki disease, despite appropriate therapeutic intervention, in Noonan[ncbi.nlm.nih.gov]

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