The information on this website is not intended for diagnosis or treatment. Please consult your physician for health concerns.

+90 850 321 50 00

Cardiac Involvement in Noonan Syndrome

Common cardiac anomalies in Noonan syndrome (part of the RASopathies), including pulmonary stenosis, atrial septal defect and hypertrophic cardiomyopathy.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kardiyoloji department. Book Appointment →

What is Cardiac Involvement in Noonan Syndrome?

Noonan syndrome is an autosomal dominant disorder caused by mutations that affect the RAS/MAPK pathway (most commonly PTPN11), resulting in short stature, characteristic facial features and congenital heart disease. It is the most common member of the RASopathies.

Cardiac involvement is seen in about 80% of patients. The most frequent anomaly is pulmonary valve stenosis (typically a dysplastic valve); ASD, hypertrophic cardiomyopathy, VSD, left ventricular outflow tract obstruction and atrioventricular canal defect may also occur.

Diagnosis is based on clinical features and genetic testing, with echocardiography and ECG essential at diagnosis and during follow-up. Treatment depends on the specific anomaly and includes balloon valvuloplasty, surgical repair or medical therapy; hypertrophic cardiomyopathy can be progressive from a young age.

Symptoms

Exertional dyspnea
Fatigue
Palpitations
Growth retardation
Characteristic facial features
Chest wall deformities (pectus excavatum)
Syncope in hypertrophic cardiomyopathy

Risk Factors

PTPN11 and other RASopathy gene mutations
Family history of Noonan syndrome
Positive prenatal genetic testing
Family history of congenital heart disease
Family history of hypertrophic cardiomyopathy
Family history of sudden cardiac death
Early developmental anomalies

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Initial cardiac screening when Noonan syndrome is diagnosed
  • New palpitations or syncope
  • Reduced exercise capacity
  • Growth retardation with a heart murmur
  • Family history of sudden cardiac death
  • Signs of pulmonary stenosis

Treatment Methods

01
Balloon valvuloplasty for non-dysplastic pulmonary stenosis
02
Surgical valvotomy or valve replacement for dysplastic valves
03
Medical therapy for hypertrophic cardiomyopathy
04
Surgical or percutaneous closure of ASD/VSD
05
Heart failure management
06
ICD implantation in high-risk patients
07
Multidisciplinary follow-up

Which Department to Visit?

You can visit our Kardiyoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Kardiyoloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Book AppointmentContact Us

Related Health Topics

Other articles from the same department you may want to explore.

Hypertension (High Blood Pressure)

Kardiyoloji

Hypertension is a condition in which blood pressure readings remain above 140/90 mmHg; early treatment helps prevent serious complications.

Coronary Artery Disease

Kardiyoloji

Narrowing of the coronary arteries due to atherosclerosis can cause chest pain (angina) and heart attack.

Heart Failure

Kardiyoloji

Heart failure is a chronic cardiac condition characterized by shortness of breath, leg swelling, and fatigue.

Heart Attack (Myocardial Infarction)

Kardiyoloji

A heart attack is a medical emergency; because heart muscle is lost by the minute, immediate intervention saves lives.

Atrial Fibrillation

Kardiyoloji

Atrial fibrillation is a common arrhythmia characterized by an irregular heartbeat and increased risk of stroke.

Heart Palpitations

Kardiyoloji

Palpitations are usually due to benign causes, but underlying cardiac rhythm disorders must be ruled out.

Heart Valve Diseases

Kardiyoloji

Valve stenosis or regurgitation increases the workload of the heart and, over time, can lead to heart failure.

Aortic Aneurysm

Kardiyoloji

Aortic aneurysms are often silent; early diagnosis allows treatment before rupture (a life-threatening tear).

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.