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Cardiac Involvement in LEOPARD Syndrome

A rare syndrome characterized by multiple lentigines, ECG abnormalities, ocular hypertelorism, pulmonary stenosis, genital anomalies, growth retardation and deafness.

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 LEOPARD Syndrome?

LEOPARD syndrome (one of the Noonan-like syndromes) is a rare autosomal dominant disorder caused by mutations in PTPN11, RAF1 or BRAF. The name reflects its classical features: Lentigines, ECG abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, and Deafness.

Cardiac involvement is seen in about 80% of patients. Pulmonary valve stenosis, hypertrophic cardiomyopathy, conduction abnormalities and arrhythmias are the most frequent findings. Hypertrophic cardiomyopathy can be obstructive and may lead to sudden cardiac death.

Diagnosis is based on clinical features, genetic testing and comprehensive cardiac evaluation (echocardiography, ECG, cardiac MRI). Treatment is individualized: balloon valvuloplasty for pulmonary stenosis, medical and sometimes surgical therapy for hypertrophic cardiomyopathy.

Symptoms

Multiple brown lentigines on the face and trunk
Exertional dyspnea
Palpitations
Chest pain
Syncope
Thick eyebrows and wide-set eyes
Deafness and growth retardation

Risk Factors

PTPN11, RAF1 or BRAF mutation
Family history of LEOPARD syndrome
Noonan-like features
Positive genetic test
Early-onset cardiac symptoms
Family history of hypertrophic cardiomyopathy
Family history of sudden cardiac death

When to See a Doctor?

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

  • Initial cardiac workup when LEOPARD syndrome is diagnosed
  • Multiple lentigines combined with a heart murmur
  • Palpitations and syncope
  • Chest pain at a young age
  • Family history of sudden cardiac death
  • Exercise intolerance

Treatment Methods

01
Balloon valvuloplasty for pulmonary stenosis
02
Medical therapy for hypertrophic cardiomyopathy (beta-blockers, disopyramide)
03
ICD in high-risk patients
04
Septal myectomy or alcohol septal ablation
05
Arrhythmia management
06
Regular cardiology follow-up
07
Genetic counseling and family screening

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.

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Let us help you

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

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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.