Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

Table 1 Patients clinical presentation

Patient ID	Gender	Age	Genotype	Clinical presentation
				Pain				Dyspnea	limbs numbness and coldness	Watery diarrhea
				Chest	Abdomen	Limbs
				Chest	Abdomen	U	L
V-2	M	33	Hmz*	+	+	+	+	+	+	+
VI-27	F	33	Hmz	+	+	+	+	+	+	+
VI-26	F	42	Hmz	+	+	+	+	+	+	–
VII-1	M	34	Hmz	+	+	+	+	+	–	+
VII-3	M	33	Hmz	+	+	+	+	+	+	+
VI-23	M	34	Hmz*	+	+	+	+	+	+	+
Av.		34.83 (+ 7, −1.8)
Group-II Patients
V-15	M	69	Het.	+	+	–	+	+	+	–
V-22	M	69	Het.	+	–	+	–	+	–	–
VI-24	M	54	Het.	+	–	–	–	+	–	–
Av.		64 (+ 5, −10)

Detailed clinical data for the affected individuals from group-I (VI-5, VII-1, VII-3, VI-23, VI-26 and VI-27) and group-II (V-22, VI-24 and V-15) (Figure-1) are summarized in Tables 1 and 2
M male, F female, U Upper, L Lower, Av Average, R.D Recurrent Dissection, Hmz homozygous, Hmz* the homozygous state was inferred, Het Heterozygous

ISSN: 1750-1172