Hemochromatosis echocardiography or ultrasound: Difference between revisions
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* Mild left ventricular dilatation, normal or mildly increased wall thickness, biatrial enlargement. Right ventricular involvement with normal size and increased wall thickness. | * Mild left ventricular dilatation, normal or mildly increased wall thickness, biatrial enlargement. Right ventricular involvement with normal size and increased wall thickness. | ||
* Left ventricular diastolic function – precedes systolic dysfunction. The degree of impairment correlates with the severity of iron overload, with a restrictive filling pattern in advanced stages Palka et al<ref name="pmid18609062">{{cite journal| author=Davidsen ES, Omvik P, Hervig T, Gerdts E| title=Left ventricular diastolic function in patients with treated haemochromatosis. | journal=Scand Cardiovasc J | year= 2009 | volume= 43 | issue= 1 | pages= 32-8 | pmid=18609062 | doi=10.1080/14017430802203811 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18609062 }}</ref> | * Left ventricular diastolic function – precedes systolic dysfunction. The degree of impairment correlates with the severity of iron overload, with a restrictive filling pattern in advanced stages Palka et al<ref name="pmid18609062">{{cite journal| author=Davidsen ES, Omvik P, Hervig T, Gerdts E| title=Left ventricular diastolic function in patients with treated haemochromatosis. | journal=Scand Cardiovasc J | year= 2009 | volume= 43 | issue= 1 | pages= 32-8 | pmid=18609062 | doi=10.1080/14017430802203811 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18609062 }}</ref> | ||
* Left ventricular systolic function – usually preserved in early stages, with regional and global dysfunction in later stages, when iron overload reaches a critical level. | |||
* Tissue Doppler Imaging for subclinical myocardial involvement - studies have shown reduced longitudinal systolic and early diastolic velocities to be early signs of disease[3] [4] [5]. In addition, a reduced increase of basal septal systolic velocities during exercise was found when compared to normals.<ref name="pmid22811786">{{cite journal| author=Barbero U, Destefanis P, Pozzi R, Longo F, Piga A| title=Exercise Stress Echocardiography with Tissue Doppler Imaging (TDI) Detects Early Systolic Dysfunction in Beta-Thalassemia Major Patients without Cardiac Iron Overload. | journal=Mediterr J Hematol Infect Dis | year= 2012 | volume= 4 | issue= 1 | pages= e2012037 | pmid=22811786 | doi=10.4084/MJHID.2012.037 | pmc=3395699 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22811786 }}</ref> | |||
* '''Iron overload cardiomyopathy''': | * '''Iron overload cardiomyopathy''': | ||
** Hereditary (primary) hemochromatosis, an autosomal recessive disorder characterized by gene mutations involving iron metabolism, leading to increase iron uptake in the gastrointestinal tract. | ** Hereditary (primary) hemochromatosis, an autosomal recessive disorder characterized by gene mutations involving iron metabolism, leading to increase iron uptake in the gastrointestinal tract. | ||
Revision as of 23:30, 3 December 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Based on the history, the doctor might consider specific tests to monitor organ dysfunction, such as an echocardiogram for heart failure.
Echocardiogram
Based on the history, the doctor might consider specific tests to monitor organ dysfunction, such as an echocardiogram for heart failure.[1]
- It is used to dignose the involment of heart and stage the progress of cardiac function.
- Echocardiography plays a role in the diagnosis and follow up during treatment.
- Findings are non-specific, with a restrictive or dilated cardiomyopathy profile.
- Mild left ventricular dilatation, normal or mildly increased wall thickness, biatrial enlargement. Right ventricular involvement with normal size and increased wall thickness.
- Left ventricular diastolic function – precedes systolic dysfunction. The degree of impairment correlates with the severity of iron overload, with a restrictive filling pattern in advanced stages Palka et al[2]
- Left ventricular systolic function – usually preserved in early stages, with regional and global dysfunction in later stages, when iron overload reaches a critical level.
- Tissue Doppler Imaging for subclinical myocardial involvement - studies have shown reduced longitudinal systolic and early diastolic velocities to be early signs of disease[3] [4] [5]. In addition, a reduced increase of basal septal systolic velocities during exercise was found when compared to normals.[3]
- Iron overload cardiomyopathy:
- Hereditary (primary) hemochromatosis, an autosomal recessive disorder characterized by gene mutations involving iron metabolism, leading to increase iron uptake in the gastrointestinal tract.
- Transfusional hemochromatosis secondary to chronic blood transfusions in patients with ineffective erythropoiesis (increased catabolism) as found in thalassemia or sickle cell anemia.
Ultrasound
References
- ↑ Olson LJ, Baldus WP, Tajik AJ (1987). "Echocardiographic features of idiopathic hemochromatosis". Am J Cardiol. 60 (10): 885–9. PMID 2959141.
- ↑ Davidsen ES, Omvik P, Hervig T, Gerdts E (2009). "Left ventricular diastolic function in patients with treated haemochromatosis". Scand Cardiovasc J. 43 (1): 32–8. doi:10.1080/14017430802203811. PMID 18609062.
- ↑ Barbero U, Destefanis P, Pozzi R, Longo F, Piga A (2012). "Exercise Stress Echocardiography with Tissue Doppler Imaging (TDI) Detects Early Systolic Dysfunction in Beta-Thalassemia Major Patients without Cardiac Iron Overload". Mediterr J Hematol Infect Dis. 4 (1): e2012037. doi:10.4084/MJHID.2012.037. PMC 3395699. PMID 22811786.