Congenital Central Hypoventilation Syndrome with Initial Symptom of Pulmonary Hypertension: Case Report and Literature Review

Abstract

Objective: To describe the clinical characteristics of congenital central hypoventilation syndrome (CCHS) with pulmonary hypertension. Methods: We retrospectively analyzed a patient with CCHS who presented with pulmonary hypertension and review of the literature. Results: The patient presented with pulmonary hypertension at the time of first hospitalization, and echocardiogram revealed enlarged right ventricle and atrium, in spite of activity measures including mechanical ventilation and supportive treatment, the patient had persistent cyanosis and dyspnea, the patient proceeded with genetic testing. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. After non-invasive positive pressure ventilation treatment, the patient thrived with normal growth and development. Conclusion: The present paper illustrates that the most effective and common method of treatment for CCHS is non-invasive bi-level positive pressure ventilation.