Table 1.

Congenital syndromes of dysfunctional multicellularity.

Disease	Genetic background	Cell types involved	Cardiovascular phenotype	References
CADASIL	Notch3	Smooth muscle cells	Central nervous system arteriovenous malformations	(68)
Hajdu-Cheney syndrome	Notch2	Endothelial cells	Ductus arteriosus, atrial and ventricular septal defects Valve abnormalities	(87)
Adams-Oliver syndrome	Notch1 DLL4	Pericytes, Smooth muscle cells Endothelial cells	Hypoplastic aortic arch, middle cerebral artery and pulmonary arteries.	(88)
Singleton-Merten syndrome	Helicase C Domain 1 Dexd/H-Box Helicase 58	Endothelial cells Smooth muscle cells	Aorta calcification, subaortic stenosis	(89)
Hereditary haemorrhagic telangiectasia	Endoglin ALK1 SMAD3	Smooth muscle cells Pericytes Endothelial cells	Arteriovenous malformations and telangiectasia	(90)
Alagille syndrome 2	Notch2 JAG1	Smooth muscle cells Pericytes Endothelial cells	Atrial septal defect Pulmonary stenosis Tetralogy of Fallot Hypertension	(91)
Von Hippel-Lindau syndrome	Hypoxia-inducible factor-2 alpha, VHL tumor suppressor gene	Endothelial cells Smooth muscle cells Pericytes	Stage-specific changes in vessel branching and an advanced progression toward an arterial phenotype	(92)
Idiopathic basal ganglia calcification	PDGF-B PDGFR-β Type III sodium dependent phosphate transporter 2	Pericyte Endothelial cells	Perivascular calcium deposits Cerebral aneurysm Arteriovenous malformations	(93)