Table 2.
Summary of Nonpulmonary Manifestations
| Patient 1a | Patient 2 | Patient 3a | Patient 4a | Patient 5 | Patient 6 | Patient 7a | Patient 8a | Patient 9a | |
|---|---|---|---|---|---|---|---|---|---|
| Brain MRI | None | None | Thinning of corpus callosum, PVNH | None | None | None | Thinning of corpus callosum, PVNH | PVNH | PVNH, hypoplastic corpus callosum |
| Cardiac manifestations and echocardiogram | PDA s/p repair, mild AI, severely dilated ascending aorta, moderate dilatation of MPA | Severe AI and moderate MR s/p aortic and mitral valve repair, mild TR | PDA s/p repair, bicuspid pulmonary valve, moderately dilated MPA and ascending aorta, trace AI, mild MR | PDA s/p repair, thickened and prolapsed aortic valve with moderate AI, mild aortic dilation | Dysplastic mitral valve with mild MR, DTV with mild TR, dysplastic aortic valve with prolapse and mild AI, dysplastic pulmonic valve with mild PR | Dysplastic thickened mitral and tricuspid valves with mild tricuspid valve prolapse, trace AI | Bicuspid aortic valve, trace AI, dysplastic pulmonary valve, moderate ascending aorta dilation | Small PDA, dysplastic mitral and tricuspid valves with severe mitral stenosis, moderate MR, moderate to severe TR, mild AI | Fenestrated ASD, thickened and DTV with moderate TR |
| Other clinical features | PH since 1-year of age | None | Resolved PH on echocardiogram, resolved dysphagia | PH since 2-years of age, thrombocytopenia, poor growth, pectus excavatum | None | GERD | Resolved PH on echocardiogram, dysphagia requiring gastrostomy feeds, strabismus, joint hypermobility, speech delay | Severe PH, global developmental delay, natal teeth, dysphagia requiring gastrostomy feeds, GERD requiring fundoplication | Resolved PH on echocardiogram, poor weight gain before trauma leading to gastric perforation and ischemic colon s/p left colectomy |
a
Patients with abnormal chest imaging.
ASD, atrial septal defect; DTV, dysplastic tricuspid valve; GERD, gastroesophageal reflux disease; MPA, main pulmonary artery; MR, mitral regurgitation; MRI, magnetic resonance imaging; PH, pulmonary arterial hypertension; PR, pulmonary regurgitation; TR, tricuspid regurgitation.