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Pulmonary hypertension and trisomy 16
H R Movahhedian1, I A Kashani, D Sine
1Division of Pediatric Cardiology, University of California San Diego Medical Center 92103, USA.
Insights
This study reports a rare case of early pulmonary vascular disease in an infant with chromosome 16p duplication. The condition presented with severe developmental delay and cardiac anomalies, highlighting a unique genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Genetic disorders can manifest with complex phenotypes, including developmental delays and congenital heart defects.
- Chromosome 16p duplication is a rare chromosomal abnormality associated with various clinical features.
Observation:
- A neonate presented with small for gestational age status, developmental delay, hypertelorism, limb deformities, genitourinary issues, and cardiac anomalies.
- Genetic analysis revealed an inverted duplication of the short arm of chromosome 16 (inv dup (16) (p 13.3-->p 11.2)).
- The infant had a large perimembranous ventricular septal defect (VSD) and moderate atrial septal defect (ASD).
Findings:
- Cardiac catheterization at 6 months showed systemic pulmonary artery pressure and pulmonary venous desaturation.
- The pulmonary/systemic blood flow ratio (Qp/Qs) was 0.8:1.0, unresponsive to oxygen and nitric oxide.
- This represents the first reported case of early-onset, nonreactive pulmonary vascular disease in a patient with 16p duplication and a large VSD.
Implications:
- This case expands the understanding of clinical manifestations associated with chromosome 16p duplication.
- Early identification and management of pulmonary vascular disease are crucial in infants with genetic syndromes and congenital heart defects.
- Further research is needed to elucidate the mechanisms linking 16p duplication to pulmonary vascular disease.
Abstract:
An infant girl, born small for gestational age, with abnormal single creases on the fifth digits, subsequent severe developmental delay, hypertelorism, bilateral equinovalgus deformities, grade IV genitourinary reflux and mild right hydronephrosis, was found to have an inverted duplication of the short arm of chromosome 16 [46,XX; inv dup (16) (p 13.3-->p 11.2]. The cardiac anomalies included a large perimembranous ventricular septal defect (VSD) and a moderate-sized atrial septal defect (ASD). Cardiac catheterization at 6 months of age revealed systemic level pulmonary artery pressure, bilateral pulmonary venous desaturation, and in room air a pulmonary/systemic blood flow ratio (Qp/Qs) of 0.8:1.0, which did not change significantly with administration of oxygen and nitric oxide. To our knowledge, this is the first description of early nonreactive pulmonary vascular disease in a patient with duplication 16p and a large VSD.