Last reviewed:October 2019
Last updated:November  2018

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
Full details

Investigations to consider

  • diagnostic cardiac catheterization
Full details

Treatment algorithm

Contributors

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.

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.

Consultant

Department of Cardiology

National University Heart Centre Singapore

Singapore

Disclosures

IK declares that he has no competing interests.

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.

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.

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 reviewersVIEW ALL

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.

Consultant in Paediatric Cardiology

Southampton University Hospitals NHS Trust

Southampton

UK

Disclosures

JG declares that he has no competing interests.

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