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Protocol - Echocardiography Phenotypes

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This section will be completed when reviewed by an Expert Review Panel.

Availability:

Publicly available

Description:

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: [link[www.bsecho.org|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).

Protocol:

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 [alink[A_Echocardiography_Phenotypes_Minimum_Dataset.pdf|here]]. The minimum dataset is also available on the BSE website: [link[www.bsecho.org/education/protocols/|www.bsecho.org/education/protocols/]].

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.

• [alink[B_Echocardiography_Phenotypes_Hypertropic_Cardiomyopathy.pdf|Echocardiography Phenotypes: Hypertrophic Cardiomyopathy]]

• [alink[C_Echocardiography_Phenotypes_Pulmonary_Hypertension.pdf|Echocardiography Phenotypes: Pulmonary Hypertension]]

• [alink[D_Echocardiography_Phenotypes_Assessment for Mitral_Valve_Repair.pdf|Echocardiography Phenotypes: Assessment for Mitral Valve Repair]]

• [alink[E_Echocardiography_Phenotypes_Mitral_Stenosis.pdf|Echocardiography Phenotypes: Mitral Stenosis and Assessment for Percutaneous Mitral Commissurotomy]]

• [alink[F_Echocardiography_Phenotypes_Marfan_Syndrome.pdf|Echocardiography Phenotypes: Marfan Syndrome]]

Personnel and Training Required

Cardiac sonographers

Cardiologist

Equipment Needs

Echocardiography machine, ultrasound gel

Requirements

Requirement CategoryRequired
Average time of greater than 15 minutes in an unaffected individualYes
Major equipmentYes
Specialized requirements for biospecimen collectionNo
Specialized trainingYes

Mode of Administration

Self-administered

Life Stage:

Adult

Specific Instructions:

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.

Research Domain Information

Release Date:

April 30, 2015

Definition

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.

Purpose

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.

Selection Rationale

The rationale for this protocol is to enable uniform phenotyping for research studies concerned with cardiac abnormalities indicated above.

Language

English

Standards

StandardNameIDSource
Common Data Elements (CDE)Echocardiography Phenotype Result4798182CDE Browser

Process and Review

This section will be completed when reviewed by an Expert Review Panel.

Source

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

General References

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: [link[www.ncbi.nlm.nih.gov/books/NBK1768/|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 [link[dx.doi.org/10.1161/CIR.0b013e318223e2bd|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

Protocol ID:

220901

Variables:

Export Variables
Variable NameVariable IDVariable DescriptionVersiondbGaP Mapping
PX220901_Echocardiography_Phenotypes_Hypertrophic_CardiomyopathyPX220901010000Echocardiography Phenotypes: Hypertrophic Cardiomyopathy4N/A
PX220901_Echocardiography_Phenotypes_Pulmonary_HypertensionPX220901020000Echocardiography Phenotypes: Pulmonary Hypertension4N/A
PX220901_Echocardiography_Phenotypes_Assessment_MitralValveRepairPX220901030000Echocardiography Phenotypes: Assessment for Mitral Valve Repair4N/A
PX220901_Echocardiography_Phenotype_Mitral_AbnormityPX220901040000Echocardiography Phenotypes: Mitral Stenosis and Assessment for Percutaneous Mitral Commissurotomy4N/A
PX220901_Echocardiography Phenotypes_Marfan_SyndromePX220901050000Echocardiography Phenotypes: Marfan Syndrome4N/A