When Clinical Judgement of a Heart Murmur is Wrong: A Case Report

Background: Infants with congenital heart defects (CHD) are at risk of death if not recognized and treated on time, desirable during intrauterine life or soon after birth. Case: A 6-week old infant presented for the evaluation of an innocent murmur, discovered immediately after birth and recorded by the neonatologist, family physician and pediatrician at follow-up visit. At physical examination, a grade 2/6 systolic murmur and tachycardia were observed. The electrocardiography revealed sinus tachycardia. Transthoracic echocardiography recorded multiple heart defects (three ventricular septal defects, an atrial septal defect, valvular regurgitations, impaired right heart function) and a vascular defect. Treatment consisted of surgical repair. Conclusions: The rarity of the case results from the atypical presentation of the cardiovascular defects only through an innocent heart murmur, therefore criteria requested by guidelines for evaluation through transthoracic echocardiography for the suspicion of a CHD, were not encountered and the diagnosis was delayed.