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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.
Pediatric Cardiology
|May 2, 1998
Summary
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.