ABSTRACT
1p36 deletion syndrome is a common terminal chromosomal deletion syndrome in humans. It is caused by the deletion of genetic material from a specific region in the short arm of chromosome 1. Symptoms range from seizure disorders, abnormalities of tone, visual and auditory disturbances. Cardiac abnormalities like left ventricular non-compaction (LVNC) and dilated cardiomyopathies (DCM) are commonly associated with this syndrome. This case report presents a 15-month-old female with dilated cardiomyopathy associated with 1p36 deletion syndrome, who has been followed from birth. Cardiac function was normal at birth with an ejection fraction of 65%. At three weeks of age, the patient presented with severe tachypnea, cyanosis, poor weight gain, and diaphoresis with feeding. Echocardiogram showed an ejection fraction of 22%. The patient was diagnosed with Modified Ross Heart Failure Class III. The patient was admitted to the cardiovascular intensive care unit where diuretics, phosphodiesterase inhibitors, and ionotropic agents were used to manage the heart failure. The patient relapsed two months later following a severe adenovirus infection. She was readmitted and heart failure medications were optimized. This patient has maintained a steady growth, meeting most milestones with no further relapse. The heterogeneity of 1p36 deletion syndrome presentation poses a diagnostic challenge for most clinicians. Cardiac involvements are very common and infants presenting with signs and symptoms of heart failure need to be screened for chromosomal abnormalities when other causes have been ruled out.
