Table 1. Echocardiography. LAs:Left atrial end systolic diameter,LVd:Left ventricular end diastolic dimension,RAs:Right atrial end systolic diameter,RVd:Right ventricular end diastolic dimension,LVEF: left ventricular ejection fraction,PASP:pulmonary arterial systolic pressure
Genetic examinations performed in the year of 2016 revealed following heterozygous mutations: SCN5A geneC.3077>A (p.T1026k), TTN geneC.94451c>T (p.R341484Q) and TTN geneC.79693c>T (p.V265651).
Cardiac magnetic resonance (CMR) performed in the year of 2016 showed that: 1. Left atrium (81*49mm) and left ventricle (88*76mm) were enlarged. Left ventricular systolic function was significantly decreased (LVEF: 30.3%). 2. Left ventricular thinning was evidenced at lateral wall, middle segment of lower wall and basal segment. There was also transmural-like delayed enhancement in these segments. 3. Moderate to large mitral regurgitation. 4. A small amount of pericardial effusion.
DMD gene MLPA test was performed in 2018 and detected fragment deletion in the 45-49 region of exon of DMD gene was evidenced.
Right heart catheterization was performed in the year of 2018 with following results: Pulmonary arterial systolic pressure=87mmHg,pulmonary capillary wedge pressure=29mmHg,the difference value of diastolic pulmonary pressure=28mmHg, total pulmonary resistance=16.75wood, pulmonary vascular resistance=8.38wood,Qp/Qs ratio=1.02.
Genetic pedigree analysis was finished in 2018, results confirmed that the disease conformed to the recessive inheritance characteristic of X-chromosome (Table 2). Despite presence of related heterogeneous gene mutations in some family members, none of his family members was clinically ill, and no symptoms and signs of Becker muscular dystrophy or DCM were found in his family members.
Table 2. Gene analysis for the family members