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
- dysmorphic features of Noonan syndrome
- dysmorphic features of LEOPARD syndrome
- dysmorphic features of Williams syndrome
- dysmorphic features of Alagille syndrome
- failure to thrive
- cyanosis
- signs of right heart failure
- right ventricular heave
- systolic thrill
Risk factors
- black ethnicity
- Noonan syndrome
- LEOPARD syndrome
- Alagille syndrome
- Williams syndrome
- congenital rubella syndrome
- carcinoid syndrome
- infectious endocarditis
- myocardial tumors
- external compression
Diagnostic investigations
1st investigations to order
- electrocardiogram
- chest x-ray
- echocardiography with Doppler assessment
- Hb and Hct
- pulse oximetry
- arterial blood gas
Investigations to consider
- diagnostic cardiac catheterization
Treatment algorithm
mild disease
moderate disease
severe to critical disease
Contributors
Authors
Edgar Tay, MBBS, MRCP (UK), MMed (Int Med), FAMS, FACC, FESC
Senior Consultant
Assistant Professor
Programme Director, Congenital/Structural Heart Disease Programme
Department of Cardiology
Department of Medicine
National University Heart Centre Singapore
Singapore
Disclosures
ET declares that he has no competing interests.
Kian Keong Poh, MBBChir (Camb), MMed, FRCP, FCCP, FAMS, FACC, FASE
Senior Consultant
Clinical Director of Research
Director of Postgraduate Education
Department of Cardiology
National University Heart Centre Singapore
Associate Professor
Department of Medicine
Yong Loo Lin School of Medicine
National University of Singapore
Singapore
Disclosures
KKP declares that he has no competing interests.
Ivandito Kuntjoro, MD, ABIM (Int.Med-USA)
Consultant
Department of Cardiology
National University Heart Centre Singapore
Singapore
Disclosures
IK declares that he has no competing interests.
James Yip, MBBS, MRCP (UK), FAMS
Senior Consultant
Department of Cardiology
National University Heart Centre Singapore
Associate Professor
Department of Medicine
Group Chief Medical Informatics Officer
National University of Singapore
Singapore
Disclosures
JY declares that he has no competing interests.
Low Ting Ting, MBBS (Singapore) MRCP (UK)
Consultant
Department of Cardiology
Programme Co-Director
Women's Heart Health Programme
National University Heart Centre Singapore
Singapore
Disclosures
LTT declares that she has no competing interests.
Acknowledgements
Dr Ivandito Kuntjoro, Edgar Tay, James Yip, Kian Keong Pho, and Low Ting Ting would like to gratefully acknowledge Dr Peter S. Fischbach, Dr Cyrus Samai, and Dr David M. Drossner, the previous authors of this monograph.
Peer reviewers
John Charpie, MD, PhD
Associate Professor of Pediatrics
Medical Director
Pediatric Cardiothoracic Intensive Care Unit
University of Michigan Congenital Heart Center
Ann Arbor
MI
Disclosures
JC 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.
Differentials
- Innocent murmur
- Straight back syndrome
- Idiopathic dilation of pulmonary artery
More DifferentialsGuidelines
- AHA/ACC 2018 guidelines for the management of adults with congenital heart disease
- AHA/ACC 2018 guidelines for the management of adults with congenital heart disease
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