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831 Possible Causes for Mutation in the Endoglin Gene, P Mitrale, Pharyngeal Hemorrhage

  • Hereditary Hemorrhagic Telangiectasia

    In addition, genetic linkage studies and/or mutation analysis identified endoglin as the disease-causing gene in 6 of these families.[pediatrics.aappublications.org] A genetic test, identifying the mutation in endoglin gene both in the patient and in the father, confirmed the suspected diagnosis of HHT.[ncbi.nlm.nih.gov] Mutations in two genes, endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1) are associated with HHT.[ncbi.nlm.nih.gov]

    Missing: P Mitrale
  • Pulmonary Arteriovenous Malformation

    The post-mortem molecular genetic analysis proved the presence of a disease-causing mutation in the endoglin gene constituting a predisposition for pulmonary AVMs.[ncbi.nlm.nih.gov] Clinical disease was documented in her mother and sister, both of whom had undergone genetic testing that identified a deletion mutation in the endoglin gene (ENG).[consultqd.clevelandclinic.org] Type 1 is caused by mutations in the endoglin gene and type 2 is caused by mutations in the ALK-1 gene, both of which encode proteins that are involved in the proper development[medicine.yale.edu]

    Missing: Pharyngeal Hemorrhage
  • Congestive Heart Failure

    Lancellotti P, Gerard PL, Pierard LA. Long-term outcome of patients with heart failure and dynamic functional mitral regurgitation.[emedicine.com] Geis N, Raake P, Mereles D, et al. Percutaneous repair of severe mitral valve regurgitation secondary to chordae rupture in octogenarians using MitraClip.[emedicine.com] mitral valve repair.[emedicine.com]

    Missing: Mutation in the Endoglin Gene Pharyngeal Hemorrhage
  • Cardiomyopathy

    […] markedly longer chordae tendineae (DCM-lowMR: 24 [20-26] mm; controls: 14 [13-16] mm; P 0.01) and larger anterior leaflets (DCM-lowMR: 30 [27-31] mm; controls: 22 [20-24] mm; P[ncbi.nlm.nih.gov] Four DCM patients with moderate-severe MR had unbalanced remodeling, such as excessive LV dilatation, short anterior mitral leaflets, and short chordae tendineae.The development[ncbi.nlm.nih.gov]

    Missing: Mutation in the Endoglin Gene Pharyngeal Hemorrhage
  • Left Cardiac Ventricle Disorder

    A pansystolic murmur of mitral regurgitation at the apex may occur in either HFrEF or HFpEF.[merckmanuals.com] […] diffuse, sustained, and laterally displaced apical impulse; audible and occasionally palpable 3rd (S 3 ) and 4th (S 4 ) heart sounds, and an accentuated pulmonic component (P[merckmanuals.com]

    Missing: Mutation in the Endoglin Gene Pharyngeal Hemorrhage
  • Hypertensive Heart Disease

    Significance was defined as p RESULTS: HHD and HCM cohorts were age-/gender-matched.[ncbi.nlm.nih.gov] Magnitude and location of maximal EDWT, presence of late gadolinium enhancement (LGE), LV asymmetry ( 1.5-fold opposing segment) and systolic anterior motion of the mitral[ncbi.nlm.nih.gov]

    Missing: Mutation in the Endoglin Gene Pharyngeal Hemorrhage
  • Aortic Valve Disorder

    […] etiology and morphology of mitral regurgitation, which are important in determining suitability for mitral valve repair ( Figure 3 ).[aafp.org] […] the etiology and morphology of mitral regurgitation, which are important in determining suitability for mitral valve repair ( Figure 3 ) .[aafp.org] Curtin and Brian P. Griffin.[en.wikipedia.org]

    Missing: Mutation in the Endoglin Gene Pharyngeal Hemorrhage
  • Mitral Valve Disease

    […] results of preoperative and postoperative echocardiographic data showed significant decrease in pulmonary arterial systolic pressure (101.2   20.3 versus 48.1   14.3 mmHg, P[ncbi.nlm.nih.gov] P 0.5), body surface area (2.0 0.2 versus 2.0 0.2 m(2); P 0.5), left ventricular and atrial dimensions (all P 0.55), and mitral regurgitation regurgitant orifice (P 0.62)[ncbi.nlm.nih.gov] RESULTS: Clinically, for iCBA and Cosgrove groups, respectively, hemolysis with mild mitral regurgitation occurred in 0 and 2 cases (p 0.084), and mitral stenosis due to pannus[ncbi.nlm.nih.gov]

    Missing: Mutation in the Endoglin Gene Pharyngeal Hemorrhage
  • Aortic Valve Stenosis

    P., Rouf, R., Habashi, J. & Dietz, H. C. Mitral valve disease in Marfan syndrome and related disorders. J. Cardiovasc. Transl. Res. 4, 741–747 (2011). 134. Chang, S.[doi.org]

    Missing: Mutation in the Endoglin Gene Pharyngeal Hemorrhage
  • Mitral Valve Insufficiency

    .  Electrocardiography: P mitrale is broad, notched P waves in several or many leads with a prominent late negative component to the P wave in lead V1, and may be seen in[slideshare.net] RESULTS: Cardiopulmonary bypass time and ischemia time were shorter in the MVP-group, p CONCLUSION: Mitral valve plasty for MR is efficient and associated with shorter CPB[ncbi.nlm.nih.gov] P mitrale is broad, notched P waves in several or many leads with a prominent late negative component to the P wave in lead V1, and may be seen in MR, but also in mitral stenosis[en.wikipedia.org]

    Missing: Mutation in the Endoglin Gene Pharyngeal Hemorrhage