Summary
Definition
History and exam
Key diagnostic factors
- pathologic systolic ejection murmur with or without a systolic click
Other diagnostic factors
- rheumatic fever
- dyspnea
- fatigue
- chest pain
- syncope
- phenotype characteristic of Noonan syndrome
- phenotype characteristic of Noonan syndrome with multiple lentigines
- phenotype characteristic of Williams syndrome
- phenotype characteristic of Alagille syndrome
- faltering growth
- cyanosis
- signs of right heart failure
- right ventricular heave
- systolic thrill
Risk factors
- black ethnicity
- Noonan syndrome
- Noonan syndrome with multiple lentigines
- Alagille syndrome
- Williams syndrome
- congenital rubella syndrome
- carcinoid syndrome
- infectious endocarditis
- myocardial tumors
- external compression
Diagnostic tests
1st tests to order
- ECG
- CXR
- echocardiography with Doppler assessment
- pulse oximetry
Tests to consider
- diagnostic cardiac catheterization
- Hb and Hct
- arterial blood gas
- cardiac MRI
- cardiac CT
- exercise stress testing
- genetic testing
Treatment algorithm
mild disease
moderate disease
severe to critical disease
Contributors
Authors
Jeremy Asnes, MD
Associate Professor of Pediatrics (Cardiology)
Yale Pediatric Cardiology
Yale New Haven Children's Hospital
New Haven, CT
Disclosures
JA is a Principal Investigator for the Medtronic Harmony™ Transcatheter Pulmonary Valve clinical trial.
Britton Keeshan, MD, MPH
Assistant Professor of Clinical Pediatrics
Yale Pediatric Cardiology
Yale New Haven Children's Hospital
New Haven, CT
Disclosures
BK declares that he has no competing interests.
Acknowledgements
Dr Asnes and Dr Keeshan would like to gratefully acknowledge Dr Ivandito Kuntjoro, Dr Edgar Tay, Dr James Yip, Dr Kian Keong Pho, Dr Low Ting Ting, Dr Peter S. Fischbach, Dr Cyrus Samai, and Dr David M. Drossner, the previous authors of this topic.
Disclosures
ET, IK, JY, KKP, LTT, PSF, CS and DD declared that they had no competing interests.
Peer reviewers
Sumeet Vaikunth, MD, MEd
Clinical Assistant Professor of Medicine and Pediatrics
Perelman School of Medicine
University of Pennsylvania
Philadelphia, PA
Disclosures
SV declares that he has no competing interests.
Sara Partington, MD
Associate Professor of Clinical Medicine
Perelman School of Medicine
University of Pennsylvania
Philadelphia, PA
Disclosures
SP declares that she has no competing interests.
Nitin Malik, MD
Assistant Professor of Clinical Medicine
Perelman School of Medicine
University of Pennsylvania
Philadelphia, PA
Disclosures
NM declares that he has no competing interests.
James Gnanapragasam, MBBS, MSc, FRCP, FRCPCH
Consultant in Paediatric Cardiology
Southampton University Hospitals NHS Trust
Southampton
UK
Disclosures
JG declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol. 2018 Aug 10 [Epub ahead of print].Full text Abstract
Otto CM, Nishimura RA, Bonow RO, et al. 2020 ACC/AHA Guideline for the management of patients with valvular heart disease: executive summary: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation. 2021 Feb 2;143(5):e35-71.Full text Abstract
European Society of Cardiology. 2020 ESC guidelines for the management of adult congenital heart disease (previously grown-up congenital heart disease). Aug 2020 [internet publication].Full text
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

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