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