Kritika Patel, BS; Khalisa Syeda, DO, Andrew J. Griffin, MD; Maria Serratto, MD
Holt-Oram Syndrome is a genetic disease characterized by cardiac and upper extremity abnormalities. The presentation is variable, with those affected displaying multiple bone abnormalities in their upper extremities, most commonly carpal bone fusion or malformations, and cardiac issues, classically a septal defect. In the case of this Holt-Oram Syndrome patient, on follow-up for Atrial Septal Defect (ASD), it was noted that she had an atypical form of non-compaction involving the lower one-third of the myocardium.
A 22-month-old female with Holt-Oram Syndrome and bilateral polydactyly presented to Pediatric Cardiology clinic for evaluation of a heart murmur and failure to thrive. The patient was a foster child with no birth or family history available. On physical exam, a III/VI systolic ejection murmur heard best at the left sternal border was appreciated. Initial echo showed secundum-type ASD that was 11 mm at its maximum diameter, and significant right ventricular dilation. The ASD was percutaneously repaired with a 20 mm ASO Amplatzer device. The patient was lost to follow-up for several years. At age 11-years-old, she returned for follow-up; she continued to be asymptomatic with no complications since the ASD repair. Her most recent echo, done at age 14-years-old, revealed non-compaction in the left ventricular chamber, largely in the apical region.
FIGURE 1 Echo demonstrating non-compaction in the apical region of the left ventricle.
The results of her initial echo (Figure 1) at age 14-years-old were essentially normal, with the exception of the finding of non-compaction in the apical region of the left ventricle; however, the contractility of the left ventricle was not quantitatively affected due to the non-compaction being largely confined to the apical region. A repeat echo showed a systolic non-compacted to compacted endomyocardial layer ratio (NC:C) of about 2, and a diastolic X/Y ratio of 0.3, both of which confirm the diagnosis of non-compaction in this patient.
To read the full article, please go to the May 2016 Issue of CCT.