Protocol - Echocardiography Phenotypes
The British Society of Echocardiography (BSE) Education Committee guidelines for a standard transthoracic echocardiogram (TTE) consist of a minimum dataset and a recommended sequence on how to perform a comprehensive assessment. The recommendations are based on the key expected components of a standard adult transthoracic study. Therefore, the minimum dataset may only be sufficient when the echocardiographic study is entirely normal. If abnormalities are detected, additional echocardiograms, which are outlined in supplemental datasets, may be required.
The supplemental datasets include protocols for how to interpret an echocardiogram for one of the five cardiac abnormalities: hypertrophic cardiomyopathy, pulmonary hypertension, assessment for mitral valve repair, mitral stenosis and assessment for percutaneous mitral commissurotomy, and Marfan syndrome. Additional supplemental datasets are under development. All datasets are available from the BSE website: www.bsecho.org.
Both the minimum and supplemental datasets contain the following:
- a visual example of an ideal image that should be obtained in each acoustic window
- information for each image regarding the view, modality, measurements, and an explanatory note (if applicable).
Standard transthoracic echocardiogram (TTE) is performed in adult individuals with hypertrophic cardiomyopathy, pulmonary hypertension, assessment for mitral valve repair, mitral stenosis and assessment for percutaneous mitral commissurotomy, and Marfan syndrome.
The Sickle Cell Disease Curative Therapies Working Group recommends that when performing echocardiography assessment in sickle cell patients, investigators record the date of the patients most recent vaso-occlusive crisis.
The British Society of Echocardiography (BSE) Education Committee guidelines for a standard transthoracic echocardiogram (TTE) contain detailed information for data collection to obtain a minimum dataset. This dataset may only be sufficient when the echocardiographic study is entirely normal, and is posted here. The minimum dataset is also available on the BSE website: www.bsecho.org/Public/Education/Protocols-and-guidelines/Public/Education/Protocols-and-guidelines.aspx.
If abnormalities are detected, use of a supplemental dataset is recommended. These datasets are available via the links below and also on the BSE website.
Personnel and Training Required
Echocardiography machine, ultrasound gel
|Specialized requirements for biospecimen collection||No|
|Average time of greater than 15 minutes in an unaffected individual||Yes|
Mode of Administration
The rationale for this protocol is to enable uniform phenotyping for research studies concerned with cardiac abnormalities indicated above.
|Human Phenotype Ontology||Abnormal echocardiogram||HP:0003116||HPO|
|caDSR Form||PhenX PX220901 - Echocardiography Phenotypes||6200309||caDSR Form|
Process and Review
Protocol Name from Source
British Society of Echocardiography (BSE) Education Committee guidelines for a standard transthoracic echocardiogram (TTE)
The British Society of Echocardiography (BSE) web site: www.bsecho.org.
Authors for transthoracic echocardiogram (TTE) minimum dataset:
Gill Wharton (Lead Author), Richard Steeds (Chair), Bushra Rana, Richard Wheeler, Nicola Smith, David Oxborough, Hollie Brewerton, Jane Allen, John Chambers, Julie Sandoval, Guy Lloyd, Prathap Kanagala, Thomas Matthew, Navroz Masani, Richard Jones.
Authors for hypertrophic cardiomyopathy supplemental dataset:
Richard Steeds (Chair), Nicola Smith (Lead Author), Navroz Masani, Julie Sandoval, Gill Wharton, Jane Allen, John Chambers, Richard Jones, Guy Lloyd, Bushra Rana
Authors for pulmonary hypertension supplemental dataset:
David Dawson, Julia Grapsa, Petros Nihoyannopoulos (Lead Authors); Richard Steeds (Chair); Nicola Smith, Julie Sandoval, Gill Wharton, Jane Allen, Prathap Kanagala, John Chambers, Richard Jones, Matthew Thomas, Richard Wheeler, Guy Lloyd
Authors for assessment for mitral valve repair supplemental dataset:
Richard Steeds (Chair), Bushra Rana (Lead Author), Jane Allen, John Chambers, Richard Jones, Guy Lloyd, Nicola Smith, Julie Sandoval, Gill Wharton
Authors for mitral stenosis and assessment for percutaneous mitral commissurotomy supplemental dataset:
Hollie Brewerton (Lead Author), Richard Steeds (Chair), John Chambers, Richard Jones, Prathap Kanagala, Guy Lloyd, Thomas Matthew, David Oxborough, Bushra Rana, Julie Sandoval, Nicola Smith, Gill Wharton, Richard Wheeler
Authors for Marfan syndrome supplemental dataset:
Richard Steeds (Chair), Julie Sandoval (Lead Author), Gill Wharton, Nicola Smith, Jane Allen, John Chambers, Richard Jones, Guy Lloyd, Bushra Rana
Cirino, A. L., & Ho, C. (2008). Hypertrophic cardiomyopathy overview. In R. A. Pagon, M. P. Adam, H. H. Ardinger, et al. (Eds.), GeneReviews® [Internet]. Seattle, WA: University of Washington. Available from: www.ncbi.nlm.nih.gov/books/NBK1768/
Dubourg, O., Isnard, R., Hagège, A., Jondeau, G., Desnos, M., Sacrez, A., Bouhour, J. B., Messmer Pellenc, P., Millaire, A., Fetler, L., Guicheney, P., Schwartz, K., & Komajda, M. (1995). Doppler echocardiography in familial hypertrophic cardiomyopathy: The French Cooperative Study. Echocardiography, 12, 235-240.
Gersh, B., Maron, B., Bonow, R., Dearani, J.A., Fifer, M. A., Link, M. S., Yancy, C. W.; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American Society of Echocardiography; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons. (2011). ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation, 124, 2761-2796. Available at dx.doi.org/10.1161/CIR.0b013e318223e2bd
Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., Hilhorst-Hofstee, Y., Jondeau, G., Faivre, L., Milewicz, D. M., Pyeritz, R. E., Sponseller, P. D., Wordsworth, P., & De Paepe, A. M. (2010). The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics, 47(7), 476-485. doi:10.1136/jmg.2009.072785
|Variable Name||Variable ID||Variable Description||dbGaP Mapping|
|PX220901050000||Echocardiography Phenotypes: Marfan Syndrome||N/A|
|PX220901030000||Echocardiography Phenotypes: Assessment for more||N/A|
|PX220901010000||Echocardiography Phenotypes: Hypertrophic more||Variable Mapping|
|PX220901020000||Echocardiography Phenotypes: Pulmonary more||Variable Mapping|
|PX220901040000||Echocardiography Phenotypes: Mitral Stenosis more||N/A|
April 30, 2015
This measure is a physical assessment of the heart that includes a review of echocardiograms to determine if heart disease or other health conditions are present.
This measure is used to determine if an adult has (1) the expected structure and function of the heart based on echocardiogram findings; (2) one of the following conditions: hypertrophic cardiomyopathy, pulmonary hypertension, assessment for mitral valve repair, mitral stenosis, and assessment for percutaneous mitral commissurotomy and (3) cardiac abnormalities associated with Marfan syndrome.
echocardiography phenotypes, echocardiography phenotypes, hypertrophic cardiomyopathy, HCM, Marfan syndrome, mitral stenosis, mitral valve repair, mitral valve prolapse, MVP, mitral commissurotomy, pulmonary hypertension, aorta, transthoracic echocardiogram, TTE, echo
|Protocol ID||Protocol Name|
There are no publications listed for this protocol.