Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

History and exam

Key diagnostic factors

  • pathological systolic ejection murmur with or without a systolic click

Other diagnostic factors

  • rheumatic fever
  • dyspnoea
  • fatigue
  • chest pain
  • syncope
  • dysmorphic features of Noonan's syndrome
  • dysmorphic features of LEOPARD syndrome
  • dysmorphic features of Williams' syndrome
  • dysmorphic features of Alagille's syndrome
  • failure to thrive
  • cyanosis
  • signs of right heart failure
  • cardiomegaly
  • right ventricular heave
  • systolic thrill

Risk factors

  • black ethnicity
  • Noonan's syndrome
  • LEOPARD syndrome
  • Alagille's syndrome
  • Williams' syndrome
  • congenital rubella syndrome
  • carcinoid syndrome
  • infectious endocarditis
  • myocardial tumours
  • external compression

Diagnostic investigations

1st investigations to order

  • ECG
  • CXR
  • echo with Doppler studies
  • Hb and Hct
  • oximetry
  • ABG
Full details

Investigations to consider

  • diagnostic cardiac catheterisation
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Associate Professor of Pediatrics

Emory University School of Medicine

Sibley Heart Center Cardiology

Atlanta

GA

Disclosures

PSF declares that he has no competing interests.

Assistant Professor of Pediatrics

Emory University School of Medicine

Sibley Heart Center Cardiology

Atlanta

GA

Disclosures

CS declares that he has no competing interests.

Pediatric Cardiologist

Miami Children’s Hospital

Miami

FL

Disclosures

DMD declares that he has no competing interests.

Peer reviewers VIEW 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

None disclosed.

Use of this content is subject to our disclaimer