. Author manuscript; available in PMC: 2015 Sep 1.

Published in final edited form as: J Hum Genet. 2014 Dec 24;60(3):151–155. doi: 10.1038/jhg.2014.112

Table 1.

Clinical and Laboratory Findings of the Affected Children

	II-3	II-4	III-1
Current Age (yrs: In 2013)	14^†	15	7
Diagnosis of BMD (yrs)	6	3	3
Diagnosis of DCM (yrs)	11 2/3	11 3/4	N/A

Neurological	Normal	Seizure disorder (resolved)	Mild developmental delay
Behavioral & Developmental	ADHD	Mild cognitive delay	ADHD

Musculoskeletal	Mild muscle weakness	Mild muscle weakness	Mild muscle weakness
Serum CK (IU/L)	38,256	>16,000	13,860
Muscle Biopsy	(+)	(+)	Not performed
Immunohistochemistry	Severely decreased dystrophin protein	Figure 1
Western blot (protein quantification)	Severely decreased (3 to 10%)	Severely decreased (3 to 10%)

Cardiac	Severe CHF	Severe CHF	None
ECG	Sinus tachycardia (130)	T wave inversion in V5, V6	Normal
ECG	RVH, RAH, LVH	LVH
CXR	Cardiomegaly	Cardiomegaly	Not done
Echocardiogram	Dilated LV (LVIDd 6.2 cm)	Dilated LV (LVIDd 7.7 cm)	Normal study
Echocardiogram	LVSF < 10%	LVSF 15%
Cardiac Catheterization	13 yrs 10 mos	14 yrs 0 mos	Not performed
	SvO₂: 54%, SaO₂ 93%	SvO₂ 70 %, SaO₂ 99%
	RA (10) mmHg, LDEDP 35 mmHg	RA (3) mmHg, LVEDP 12 mmHg
	C.I. 1.8 L/min/m², Rp/Rs = 0.43	C.I. 2.1 L/min/m², Rp/Rs = 0.28
	Mechanically ventilated (FiO₂ 0.5)	On milrinone infusion
	On milrinon infusion

†: Deceased. BMD: Becker muscular dystrophy, DCM: dilated cardiomopathy, ADHD: attention deficit hyperactivity disorder, CK: creatine kinase, CHF: congestive heart failure, RVH: right ventricular hypertrophy, RAH: right atrial hypertrophy, LVH: left ventricular hypertrophy, LVIDd: left ventricular internal diameter in diastole, LVSF: left ventricular shortening fraction, SvO₂: mixed venous saturation, SaO₂: systemic arterial saturation, RA: right atrial pressure (mean), LVEDP: left ventricular end diastolic pressure, C.I.: cardiac index, Rp/Rs: Pulmonary vascular resistance/systemic vascular resistance.