Key result
Partial trisomy 16q21-q24.3 was associated with a novel cardiac manifestation of left ventricular noncompaction (LVNC) cardiomyopathy.
Why the study?
While literature is replete with cases of partial trisomy 16q having structural cardiac defects, associated myocardial disease had not been characterized.
Case Report (n=1)
This case report expands the known cardiac manifestations of partial trisomy 16q to include left ventricular noncompaction cardiomyopathy.
Answers are grounded in this paper and cite their sources.
Case expands partial trisomy 16q phenotype to include cardiac defects; leaves open genotype-phenotype correlations pending further reports.
Partial trisomy 16q is most often a consequence of malsegregation from a balanced parental translocation involving chromosome 16q. It is characterized by nonspecific craniofacial dysmorphic features, hypotonia, developmental delay, psychomotor retardation, and systemic manifestations of cardiac defect, renal abnormalities, and lung abnormalities. The survival of these patients depends upon the extent and severity of the organs involved. The present literature was replete with cases of partial trisomy 16q having structural cardiac defects. However, in the present report we described a novel finding of myocardial disease in the form of left ventricular noncompaction (LVNC) cardiomyopathy associated with this genetic condition.
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Dwivedi et al. (2020) conducted a case report in Partial Trisomy 16q21-q24.3 (n=1). Partial Trisomy 16q21-q24.3 was evaluated on Cardiac manifestations. Partial trisomy 16q21-q24.3 was associated with a novel cardiac manifestation of left ventricular noncompaction (LVNC) cardiomyopathy.
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