The Rare Association of Noonan Syndrome with Tetralogy of Fallot

Abstract

Background: Noonan syndrome is an autosomal dominant multisystem disorder characterized by short stature, distinctive facial features, congenital heart defects, and variable developmental delays. While pulmonary valve stenosis is the most common cardiac lesion, Tetralogy of Fallot is rarely reported in Noonan syndrome. To date, there are fewer than 60 documented cases of Noonan syndrome associated with Tetralogy of Fallot in the medical literature.

Objective: To report the third documented case of Noonan syndrome from Iraq, uniquely associated with repaired Tetralogy of Fallot, and review the two previously reported Iraqi cases with differing phenotypes.

Patients and Methods: A 16-year-old male with a history of surgically corrected Tetralogy of Fallot was evaluated for slow growth and subtle dysmorphic features.

Results: The patient demonstrated hallmark features of Noonan syndrome including short stature, broad forehead, hypertelorism, downslanting palpebral fissures, and mild learning difficulties. Echocardiography revealed residual cardiac abnormalities consistent with post-TOF repair. Diagnosis was made based on clinical criteria.

Conclusion: This case underscores the diagnostic importance of reassessing patients with repaired congenital heart disease for underlying syndromic conditions. Increased awareness of Noonan syndrome and its varied cardiac manifestations, including Tetralogy of Fallot, is essential for early diagnosis and comprehensive management, especially in resource-limited settings.

Citation

Aamir Jalal Al-Mosawi. The Rare Association of Noonan Syndrome with Tetralogy of Fallot. WebLog J Clin Case Rep. wjccr.2026.f2601. https://doi.org/10.5281/zenodo.21308517