. 2013 Sep 4;22(4):486–491. doi: 10.1038/ejhg.2013.165

Table 1. Phenotypic description of all three siblings with cardiac findings on first evaluation and most recent cardiac evaluation.

Case	Phenotype	First cardiac evaluation	Most recent cardiac evaluation
21y/o sibling	CMD. Mild mental retardation Microcephaly <2nd percentile with dolichocephaly. Scoliosis and joint contractures. Creatine kinase 4335 Ul⁻¹.	Dil Ao Ann – normal. Dil Ao root (Z-score 3.49). STJ (Z-score 2.91). Asc Ao (Z-score 2.52). Normal LV size and fn. Dyskinesis of the septum and LV posterior wall.	Aortic diameters did not show progression: Dil Ao Ann (Z-score 2.43). Di Ao root (Z-score 2.43). STJ (Z-score 2.5). Asc Ao – n/a. Improvement of the LV function – SF from 30% to 36.5% after dual therapy.
19y/o sibling	CMD. Mild mental retardation. Microcephaly <2nd percentile with dolichocephaly. Scoliosis. Joint contractures. Seizures. Creatine kinase 5180 Ul⁻¹.	Dil Ao Ann – normal. Dil Ao root (Z-score 4.17). STJ (Z-score 1.13). Dilated LV with an EDD of Z-score 2.15. LVDWT (Z-score −2.61). LVEF 49%.	Aortic diameters progressed: Dil Ao Ann – normal. Dil Ao root (Z-score 4.63). STJ (Z-score 3.68). Asc Ao (Z-score 2.80). Improvement of the LV dimension with an EDD of Z-score 1.37. LVDWT (Z-score 0.76). LVEF 47%.
17y/o sibling	CMD. Mild mental retardation. Microcephaly <2nd percentile with dolichocephaly. Joint contractures. Creatine kinase 5700 Ul⁻¹.	Dil Ao root (Z-score 3.50). STJ (Z-score 2.71). Dilated LV with an EDD of Z-score 4.09. LVEF 66%.	Aortic diameters remained similar: Dil Ao root (Z-score 3.48). STJ (Z-score2.27). LV dimension improved with an EDD of Z-score 1.95, and an EF from a previous visit at 44% to 50%.

Abbreviations: Asc Ao, ascending aorta; CMD, congenital muscular dystrophy; Dil Ao Ann, dilated aortic annulus; Dil Ao root, dilated aortic root; EDD, left ventricular end diastolic dimension; fn, function; LV, left ventricle; LVDWT, left ventricular diastolic wall thickness; LVEF, left ventricular ejection fraction; n/a, no available; SF, shortening fraction; STJ, sino-tubular junction. Summarizes the phenotype, the first cardiac evaluation and the most recent cardiovascular findings in the three patients.