Adult Male Survivor of Noonan Syndrome

with Cardiovascular Manifestations

RD. Robin H. Wibowo, Felicia Hendra Wibowo, Januar Wibawa Martha

Departement of Cardiology and Vascular Medicine

Faculty of Medicine, Universitas Padjajaran / Dr. Hasan Sadikin General Hospital, Bandung
Background
Noonan syndrome is a multiple congenital abnormality syndrome characterized by short stature, a typical facial appearance, and heart defects,
most commonly pulmonary and hypertrophic cardiomyopathy. Phenotype expression is variable and other recognized aspects of the
phenotype include cryptorchidism in males, pectus deformities and bleeding diatheses. Incidence is estimated to be between 1 in 1000 and 1
in 4000. Noonan syndrome may be inherited in an autosomal dominant manner, although mostly are sporadic.

A 22 year old man was admitted to our hospital complaining shortness of breath Case Presentation
accompanied by fever and productive cough. Dyspnea on effort and bluish Bingers since 3
years. Physical examination revealed arterial blood pressure of 90/60 mmHg with body
height 127 cm and weight 34 kg. There are down slanting eyes, low set ears with helices
prominence, High nasal bridge, normal JVP, pansystolic murmur in upper and lower sternal
border grade 4/6 radiating to carotid artery. Lung examination was unremarkable and
clubbing of all extremities. ECG Binding was sinus tachycardia, superior axis and Right
Ventricular Hypertrophy. Chest X-ray showed CTR was 59%, aortic and pulmonic segment
was normal, cardiac waist was Blattened, reduced bronchovascular pattern and active
tuberculosis. Echocardiography Bindings revealed dilated RV and RA, D-shaped LV,
hyperthropic LV, Normal LV function with EF 82%, Normokinetic, Diastolic dysfunction
(impaired relaxation), severe infundibular stenosis, severe TR , normal RV contractility, and
mild pericardial effusion (0.8 cm). Laboratory Bindings showed leukocytosis with absolute
neutrophil count of 88% and hyponatremia. A diagnosis of Noonan syndrome with short
stature, facial feature, pulmonary stenosis, hypertrophic LV, and cryptorchidism, active
tuberculosis with community acquired pneumonia was made. The patient was admitted to
general ward and treated for the lung infection. Patient was discharged after 5 days and
was scheduled for routine follow up. The patient was scheduled for elective surgical
management.

Picture 1. Paient presentation

Picture 4. ECG Presentation

Picture 2. Chest X-ray at the time Picture 3. Echocardiography

of hospital admission Discussion
Although the clinical spectrum seen in children with the condition is well recognized, studies of the adult phenotype have been limited to
speciBic aspects of the condition such as facial features or Binal height, The adult phenotype of genetic syndromes is inadequately described
and follow-up studies are rare. This patient have classical phenotype of noonan syndrome. The patient presented with secondary disease of
lung infection. Genetic testing arent conclusive for the diagnosis of noonan syndrome. Although most of those with pulmonary stenosis have
required no intervention to relieve the stenosis, about a third have undergone open surgery or repeat procedures. This patient needs surgical
management because noonan syndrome recognized as a risk factor for progressive pulmonary stenosis because of the high prevalence of valve
dysplasia. The natural history of the HCM in Noonan syndrome seems to be different from non-syndromic HCM, with a similar annual
mortality but with a notable absence of sudden death or rhythm disturbances.

Conclusion
The management of noonan syndrome is based on the speciBic Bindings, severity, and secondary disease. No speciBic treatment for noonan
syndrome. Focused management on the disease and complications control should be routinely done to reduce the morbidity and mortality of
noonan syndrome.

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