Table 2.

General clinical presentation – heart, brain, skin, eye and kidney involvement - and family history

Case n°	Cardiac signs	Neurological signs	MRI	Skin lesions	Others	Family history
1	WPW Syndrome	West Syndrome	Cortical tubers	Hypomelanotic maculae	Retinal hamartoma Renal angiomyolipoma	Negative
	Multiple rhabdomyomas			Facial angiofibroma
2	Heart murmur	West syndrome	Cortical tubers	Hypomelanotic maculae	No	Sister with language disorders
	Multiple rhabdomyomas	Psychomotor delay		Facial angiofibroma
3	Heart murmur	No	Cerebral white matter radial migration lines	Hypomelanotic maculae	Retinal hamartoma	Positive for TSC
	Widened QRS
	Multiple rhabdomyomas
4	Multiple rhabdomyomas	West Syndrome	Cortical tubers	Hypomelanotic maculae	Retinal hamartoma	Negative
		Mental retardation
5	Heart murmur	No	Normal	No	No	Negative
	Cyanosis
	Multiple rhabdomyomas
6	Heart murmur	West syndrome	Cortical tubers	Hypomelanotic maculae	Retinal hamartoma	Negative
	Multiple rhabdomyomas	Drug resistant epilepsy	Subependymal nodules	Facial angiofibroma
		Psychomotor delay	Cerebral white matter radial migration lines	Forehead plaque
7	Lobulated mass in LV	West Syndrome	Not performed	Hypomelanotic maculae	No	Negative
8	Multiple rhabdomyomas	Partial seizures	Cortical tubers	Hypomelanotic maculae	Retinal hamartoma	Positive
		Lennox-Gastaut syndrome	Subependymal nodules	Facial angiofibroma
		Mental retardation	Subependymal giant cell astrocytoma
		Behavior disorders
9	Lobulated mass in IVS	No	Not performed	Hypomelanotic maculae	No	Negative
10	Cyanosis	No	Not performed	No	No	Positive for TSC
	LV obstruction
	Multiple rhabdomyomas
11	Atrial ectopic beats	West syndrome	Cortical tubers	Hypomelanotic maculae	Renal cysts	Negative
			Subependymal nodules
	Multiple rhabdomyomas		Cerebral white matter radial migration lines
12	RV overload signs	West Syndrome	Cortical tubers	Hypomelanotic maculae	No	Negative
	Multiple rhabdomyomas			Facial angiofibroma
13	Heart failure and cyanosis	West syndrome	Subependymal nodules	Hypomelanotic maculae	No	Negative
	Atrial and ventricular ectopic beats	Behavior disorders	Subependymal giant cell astrocytoma Cerebral white matter radial migration lines
	Multiple rhabdomyomas	Psychomotor delay
14	Heart murmur	Drug resistant epilepsy	Cortical tubers	Hypomelanotic maculae	No	Negative
	Multiple thabdomyomas	Mental retardation	Subependymal nodule
15	Heart murmur	West syndrome	Cortical tubers	Hypomelanotic maculae	Retinal hamartoma, Renal angiomyolipoma	Mother with hypomel. macula
	WPW Syndrome	Behavior and language disorders	Subependymal nodule	Facial angiofibroma
	Multiple rhabdomyomas		Cerebral white matter radial migration lines
16	Incomplete right bundle branch block	Partial seizures	Cortical tubers	Hypomelanotic maculae	No	Negative
			Subependymal nodule
	Multiple rhabdomyomas
17	Heart murmur	Partial seizures	Cortical tubers	Hypomelanotic maculae	No	Positive
	Multiple rhabdomyomas	Lennox-Gastaut syndrome		Facial angiofibroma
		Mental retardation
18	Atrial and ventricular ectopic beats	West Syndrome	Cortical tubers	Hypomelanotic maculae	Renal angiomyolipoma	Negative
	Multiple rhabdomyomas			Facial angiofibroma
				Forehead plaque
19	Multiple rhabdomyomas	Partial seizures	Cortical tubers	Hypomelanotic maculae	Retinal hamartoma renal angiomyolipoma	Positive
			Subependymal nodules	Facial angiofibroma
			Cerebral white matter radial migration lines
20	Heart murmur	West syndrome	Cortical tubers	Hypomelanotic maculae	Renal cysts	Positive
	Ventricular ectopic beats	Psychomotor delay	Subependymal nodule
	RV overload signs		Subependymal giant cell astrocytoma
	Multiple rhabdomyomas
21	WPW Syndrome	Partial seizures	Cortical tubers	Hypomelanotic maculae	no	Negative
	Multiple rhabdomyomas	Behavior disorders	Subependymal nodule
22	Heart murmur	No	Cerebral white matter radial migration lines	Hypomelanotic maculae	no	Negative
	Multiple rhabdomyomas
23	RV overload signs	Drug resistant epilepsy	Cerebral white matter radial migration lines	Hypomelanotic maculae	Retinal hamartoma	Negative
	Multiple rhabdomyomas	Mental retardation		Facial angiofibroma
				Forehead plaque
24	Atrial and ventricular ectopic beats	West syndrome	Cortical tubers	Hypomelanotic maculae	No	Negative
	Multiple rhabdomyomas	Psychomotor delay	Subependymal nodules
25	Heart murmur	No	Cortical tubers	Hypomelanotic maculae	no	Negative
	Multiple rhabdomyomas
26	Multiple rhabdomyomas	West syndrome	Cortical tubers	Hypomelanotic maculae Forehead plaque	Retinal hamartoma	Negative
			Subependymal nodules
			Subependymal giant cell astrocytoma
27	Multiple rhabdomyomas	West syndrome	Cortical tubers	Hypomelanotic maculae	Retinal hamartoma	Negative
		Drug resistant epilepsy	Subependymal nodules	Facial angiofibroma
		Mental retardation		Forehead plaque
28	Multiple rhabdomyomas	West syndrome	Cortical tubers	Hypomelanotic maculae	Retinal hamartoma	Negative
		Behavior disorders	Subependymal nodules	Facial angiofibroma
			Cerebral white matter radial migration lines
29	Multiple rhabdomyomas	No	Cortical tubers	Hypomelanotic maculae	No	Positive
30	Multiple rhabdomyomas	West Syndrome	Cortical tubers	Hypomelanotic maculae	No	Positive for TSC
			Cerebral white matter radial migration lines
31	Heart murmur	Drug resistant epilepsy	Cortical tubers	Hypomelanotic maculae	Retinal hamartoma	Negative
	Multiple rhabdomyomas	Mental retardation	Subependymal nodules		Renal angiomyolipoma
32	Multiple rhabdomyomas	West Syndrome	Cortical tubers	Hypomelanotic maculae	No	Negative
		Mental retardation	Subependymal nodules	Facial angiofibroma
			Cerebral white matter radial migration lines
33	Heart murmur	Lennox-Gastaut syndrome	Cortical tubers	Hypomelanotic maculae	Retinal hamartoma	Negative
	Multiple rhabdomyomas	Mental retardation	Subependymal nodules	Facial angiofibroma
			Cerebral white matter radial migration lines	Forehead plaque