Protocol - Echocardiography Phenotypes

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: 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).

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.

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.

Availability

Available

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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 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.

• Echocardiography Phenotypes: Hypertrophic Cardiomyopathy

• Echocardiography Phenotypes: Pulmonary Hypertension

• Echocardiography Phenotypes: Assessment for Mitral Valve Repair

• Echocardiography Phenotypes: Mitral Stenosis and Assessment for Percutaneous Mitral Commissurotomy

• Echocardiography Phenotypes: Marfan Syndrome

Personnel and Training Required

Cardiac sonographers

Cardiologist

Equipment Needs

Echocardiography machine, ultrasound gel

Requirements

Requirement Category	Required
Major equipment	Yes
Specialized training	Yes
Specialized requirements for biospecimen collection	No
Average time of greater than 15 minutes in an unaffected individual	Yes

Mode of Administration

Clinical Examination

Lifestage

Adult

Participants

Adults

Selection Rationale

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

Language

English

Standards

Standard	Name	ID	Source
Human Phenotype Ontology	Abnormal echocardiogram	HP:0003116	HPO
caDSR Form	PhenX PX220901 - Echocardiography Phenotypes	6200309	caDSR Form

Derived Variables

None

Process and Review

Not applicable.

Protocol Name from Source

British Society of Echocardiography (BSE) Education Committee guidelines for a standard transthoracic echocardiogram (TTE)

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: 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

Protocol ID

220901

Variables

Export Variables

Variable Name	Variable ID	Variable Description	dbGaP Mapping
PX220901_Echocardiography Phenotypes_Marfan_Syndrome
	PX220901050000	Echocardiography Phenotypes: Marfan Syndrome	N/A
PX220901_Echocardiography_Phenotypes_Assessment_MitralValveRepair
	PX220901030000	Echocardiography Phenotypes: Assessment for more Mitral Valve Repair show less	N/A
PX220901_Echocardiography_Phenotypes_Hypertrophic_Cardiomyopathy
	PX220901010000	Echocardiography Phenotypes: Hypertrophic more Cardiomyopathy show less	Variable Mapping
PX220901_Echocardiography_Phenotypes_Pulmonary_Hypertension
	PX220901020000	Echocardiography Phenotypes: Pulmonary more Hypertension show less	Variable Mapping
PX220901_Echocardiography_Phenotype_Mitral_Abnormity
	PX220901040000	Echocardiography Phenotypes: Mitral Stenosis more and Assessment for Percutaneous Mitral Commissurotomy show less	N/A

Rare Genetic Conditions

Measure Name

Echocardiography Phenotypes

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.

Keywords

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

Measure Protocols

Protocol ID	Protocol Name
220901	Echocardiography Phenotypes

Publications

There are no publications listed for this protocol.

Mapping for PX220901_Echocardiography_Phenotypes_Hypertrophic_Cardiomyopathy

dbGAP Study	dbGAP Variable	dbGAP Variable Description
Atherosclerosis Risk in Communities (ARIC) Cohort	phv00207002	[Screening for decompensation or new onset]. Did the physician's note or discharge summary indicate any of the following specific types of heart failure? (check all that apply) Q6d - Hypertrophic Cardiomyopathy (removed from current form version) [Heart Failure Hospital Record Abstraction Form, HFA]

Mapping for PX220901_Echocardiography_Phenotypes_Pulmonary_Hypertension

dbGAP Study	dbGAP Variable	dbGAP Variable Description
Atherosclerosis Risk in Communities (ARIC) Cohort	phv00206806	[Medical history]. Q11l - Pulmonary hypertension [Heart Failure Hospital Record Abstraction Form, HFA]
Atherosclerosis Risk in Communities (ARIC) Cohort	phv00206881	[Diagnostic tests]. Record the following if present on transthoracic echocardiogram: Q29d10- Pulmonary hypertension [Heart Failure Hospital Record Abstraction Form, HFA]
Genome-Wide Association Study in Systemic Sclerosis	phv00161621	Pulmonary hypertension.