Asian Journal of Pediatric Research

Introduction: Parachute mitral valve (PMV) is a rare congenital malformation characterized by all mitral chordae tendineae inserting into a single papillary muscle. The resultant unifocal attachment often leads to mitral inflow obstruction of varying severity. While PMV is sometimes isolated, it has also been reported in association with extracardiac anomalies and genetic syndromes, though this remains uncommon.

Case Presentation: We report a case of a 2-year-old male toddler who presented with exertional dyspnea, easy fatigability, and recurrent chest infections since infancy. Clinical examination revealed dysmorphic facial features, short stature, and webbed neck, raising strong suspicion for Noonan syndrome. Cardiac auscultation demonstrated an apical mid-diastolic murmur. Echocardiography confirmed a parachute mitral valve with thickened mitral leaflets and restricted mobility, producing significant mitral inflow obstruction. No other structural cardiac malformations were detected. Work-up for extracardiac involvement further supported a syndromic diagnosis, although genetic testing was not available at the time of evaluation. The patient was managed conservatively with diuretics and regular cardiology follow-up. Symptom improvement was noted on medical therapy, though surgical intervention may be required if progression of obstruction occurs. This case highlights the importance of thorough evaluation in children presenting with dysmorphic features and cardiac murmurs.

Conclusion: PMV is a rare congenital anomaly that may occur as part of a broader syndromic presentation. Early recognition, echocardiographic diagnosis, and multidisciplinary care are essential to optimize outcomes in affected children.