Create issue ticket

1,702 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Thickened Aortic Valve

  • Mucopolysaccharidosis 1 H-S

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] […] disease with thickening and leaking of valves most commonly the mitral and aortic valves.[rarediseases.org] Corneal opacity is seen between two and four years of age and requires keratoplasty to restore sight.[orpha.net]

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Cardiopulmonary: Cardiopulmonary manifestations include aortic valve dysfunction and frequent upper and lower respiratory tract infections.[symptoma.com] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[medicinenet.com]

  • Mucopolysaccharidosis

    Autopsy showed thickened and stenotic aortic valve leaflets as well as marked concentric intimal thickening of the aorta and muscular arteries.[ncbi.nlm.nih.gov] Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.nlm.nih.gov] After 4 months of treatment, partial inhibition of CtsB activity in treated mice reduced aortic dilatation, as well as heart valve thickening, and led to improvements in cardiac[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Pseudo-Hurler Polydystrophy

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common[ncbi.nlm.nih.gov] opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate[rarediseases.info.nih.gov]

  • Fabry Disease

    Valves were examined for the presence of focal or diffuse thickening of the leaflets or subvalvular apparatus (for the mitral valve).[pediatrics.aappublications.org] Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.[merckmanuals.com] opacity, lysosomal disease with restrictive cardiomyopathy, lysosomal disease with hypertrophic cardiomyopathy, rare hereditary metabolic disease with peripheral neuropathy[commons.wikimedia.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucolipidosis

    Cardiac involvement most commonly includes the thickening and insufficiency of the mitral or aortic valves.[orpha.net] opacities.[ncbi.nlm.nih.gov] Mitral and/or aortic valve regurgitation or thickening was detected in 6 patients. Enlargement of the left atrium was observed in 3 patients.[journals.plos.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 4

    […] minimal to mild thickened mitral and/or aortic valve leaflets.[journals.plos.org] To give a synopsis of the disease: There is severe growth retardation (adult height 82 to 115 cm); the skull is unusually thick and dense; there are corneal opacities (clouding[medicinenet.com] They presented marked growth retardation, spinal deformity, chest deformity, genu valgum, and corneal opacities.[cags.org.ae]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 4A

    Transthoracic echocardiography showed mildly thickened aortic and mitral valves and a grade 2 left ventricle with a well-delineated, thin-walled apical aneurysm measuring[circ.ahajournals.org] Cornea Corneal opacities are universally present in all forms of MPS I.31 Fine grey punctate opacities are first seen in the anterior stroma; later, as the disease progresses[touchophthalmology.com] Early onset coronary heart disease and valve thickening (aortic and mitral) with resultant cardiac dysfunction are described in these patients, and endocarditis prophylaxis[cjhr.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 6

    Cardiac involvement includes aortic and mitral valve dysfunction. Skeletal changes are typified by dysostosis multiplex.[emedicine.medscape.com] A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior dimension are the main characteristic[unboundmedicine.com] [rarediseases.org] Eyes Corneal Opacity A large head, short neck, corneal opacity , open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior[symptoma.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    Other cardiac problems include: Thickening of the mitral and aortic valves leading to regurgitation or stenosis Myocardial thickening that contributes to heart failure Cardiac[medicalhomeportal.org] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[orpha.net] Progressive valve thickening from GAG deposition causes valve regurgitation and/or stenosis (Fig. 2 ), with mitral and aortic regurgitation being most common (Wippermann et[link.springer.com]

    Missing: Early-Onset Coronary Artery Stenosis

Similar symptoms