The Mutations Associated with Dilated Cardiomyopathy

Table 2

Clinical data of the patients with the G555E mutation in the SDHA gene.

Case	Age at onset (months)	Age at death (months)	Age alive (years)	Sex	Primary clinical features and followup (f/u)	Echo data	Noncompaction LV (LVNC)	LV function FS %
A6	2	2		f	Respiratory distress, CHF, cardiogenic shock	LV dilatation LVEDD-39 mm; Noncontracting LV	Noncompaction LV	FS < 10%
A7	8		14 months psychomotor development adequate to age	m	Cardiomegaly in X-ray asymptomatic f/u-asymptomatic	LV dilatation LVEDD-36 mm; Mild LVH, mild MVI; Mild LV dysfunction		25%
A8	4		2 y, adequate psychomotor development to age	f	Respiratory distress f/u-frequently hospitalized due to CHF	LV dilatation LVEDD-44 mm; LV dysfunction Moderate LVH		15–17%
A9	2	11		m	Respiratory distress f/u-frequently hospitalized due to CHF	LV dilation LVEDD-44; LV dysfunction; Moderate MVI Moderate LVH		12–15%
A10	3	5		f	Respiratory distress, CHF	LV dilation; LVEDD-42 mm; Noncontracting LV		11–13%
A11	2	2		f	Respiratory distress, CHF	LV dilation LVEDD-37 mm; Noncontracting LV	Noncompaction LV	FS < 10%
A12	5		7 y, normal school performance	m	Mild respiratory distress f/u-exercise intolerance	LV dilation; LVEDD-46; LV dysfunction; Mild MVI; Mild LV hypertrophy		23–25%
A13	6	6		m	Respiratory distress, CHF cardiogenic shock	LV dilatation LVEDD-42 mm; Noncontracting LV	Noncompaction LV	FS < 10%
B1	33 W of gestation	2		m	Respiratory distress, CHF cardiogenic shock	LV dilatation LVEDD-36 mm; Non contraction LV	Noncompaction LV	FS < 10%
B2	1		8 y, normal school performance	f	Respiratory distress frequently hospitalized at one year-old, f/u-exercise intolerance	LV dilatation LVEDD-50 mm; LV dysfunction; Mild MVI, mild LVH		22-23%
B3	3	8		f	Respiratory distress CHF	LV dilatation LVEDD-44 mm; Severe LV dysfunction	Noncompaction LV	13%
B4	32 W of gestation	1		f	Respiratory distress, CHF, sudden death at home	LV dilation LVEDD-33 mm; Noncontracting LV	Noncompaction LV	FS < 10%
B5	32 W of gestation		14 m, walked at age12 m	m	Respiratory distress f/u-frequently hospitalized due to CHF	LV dilatation LVEDD-43 mm; Mild MVI; Moderate to severe LV dysfunction	Noncompaction LV	12–18%
C1	4	4		m	Respiratory distress CHF, cardiogenic shock	LV dilatation LVEDD-43 mm; Non contraction LV		FS < 10%
D1	8 months		11 y, normal school performance	m	At presentation-respiratory distress f/u-exercise intolerance	LV dilatation LVEDD-48 mm; Mild LVH, mild MVI; Mild LV dysfunction		24–26%

CHF: congestive heart failure, FS: fractional shortening, LV: left ventricle, LVEDD: left ventricle end-diastolic diameter, LVH: left ventricle hyperthropy. MVI: mitral valve insufficiency. A, B, C, and D represent 4 different families.