A mini-case report. History-evolution of the family disease from peripartal CMP to cardiac transplantation:
- Disease manifested in 35-year-old female to the last trimester of the pregnancy as peripartal cardiomyopathy. Heredity is burdened by the SCD of her mother at the 29-year age.
- ECG 2015: a high voltage complex, WPW phenomenon. ECHO: LV EDVol 187 ml; LV ESVol 135 ml; LVEF 28%; GLS -10.4%;
After 12-18 months post delivery the condition worsened. There were signs of progressive heart failure with biventricular dilatation and systolic dysfunction.
- ECHO 2017: LV EDVol 290 ml; LV ESVol 242 ml; LVEF 17%; GLS -5.1%;RV EDVol 64 ml; RV ESVol 43 ml; RVEF 32%; GLS -9.8%; TPSE 12 mm; index of myocardial mass is 135 g / m2, RV free wall thickness 8 mm, LV free wall thickness 9 mm.
- ECG 2017 : Atrial Flutter, atypical LBBB pattern with "pseudo-infarction" signs of Sodi-Polares (QS in I, avL, V5-V6) and Cabrera (V4).
N-terminal proBNP 16766 pg / mmol.
Cardiac MRI revealed signs of subendocardial linear fibrosis (areas of poor gadolinium uptake that indicate scarring).
ECG and MRI results are in the attached file (mother)
A successful heart transplant (HTx) was performed in the patient.
Since our patient has three children - sons 16,10 and 2 years old, we examined them: Еcho normal, ECG abnormal (see the file attached below).
What cardiomyopathy needs to be differentiated in children under dynamic follow-up? What potential genes should be examined?
Hi,
Tatiyana
From overall picture it seems to be a case of Danon disease.It is because of defficency of lysosome associated membrane protein2(LAMP2).Majority of patient presents like Hypertrophic cardiomyopathy but in advanced stage it can mimic like Dilated cardiomyopathy like your case.WPW Syndrome with high voltage complex in ECG in children also favours Danon Disease.Elevated liver enzymes,CPK and mental retardation in children also a pointer to Danon disease.It is transmitted by X-linked dominant inheritence.LAMP2 gene located in Xq24.
I agree with the possible diagnosis of Danon Disease. The ECG changes appears more like intraventricular conduction delay than true WPW. Do the affected members have evidence of weakness of skeletal muscles (especially the 10 yr old? As the CK, AST and ALt are elevated and this is a form of Glycogen storage disease, the high voltage pattern and intraventricular conduction delay is possibly related to glycogen deposition in the cardiomyocytes. I am sure you have excluded incessant tachycardia as a cause.
i share the same opinion than Joseph an Biswajit, about Danon Disease. which is x-linked. the WPW shape is not realy a WPW because the PR interval is not abbreviated.
best
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