Dear Tatiyana,

Does this patient has beside cardiomyopathy some form of muscular dystrophy (it has it since puberty) and was is evaluated by neurologist?

I think that genetic counseling and testing testing would add additional information regarding the etiology.

What about some metabolic disorder - was if evaluated in childhood in pediatric department for any problems (neurologic, cardiologic)?

Diastolic function is difficult to evaluate due to AF? Still, what is DT, LV TDI e' medially, ...? What kind of diastolic disfunction there is?

Kind regards,

Daniel

Thank you, dear Dr. Daniel. You are absolutely right. Of course, it is much to clarify :-) Genetic test results will be in 3-5 weeks (already started tNGS using cardiopanel 175 genes). And how to specify the clinical diagnosis and what to do if there is no such possibility for genetic screening?...Some clarification is necessary even if it is in order to narrow down the range of genetic search...

For more information: The patient has no relatives of the first line, and his pedigree is unknown. After his parents died (cause unknown) in the 14 years of age she was in state care. In adolescence was diagnosed Charcot-Marie-Tooth disease with axonal neuropathy (???) and connective tissue heart dysplasia.The patient started to mark feeling of weakness in the muscles of the legs, neck and shoulders in puberty. Despite the progressive character myopathy, muscle weakness was not grueling, and the young male was still able to normal activity and moderate physical work on a personal plot to this deterioration. There was no muscle atrophy and flexion contractures. It is unlikely seems to laminopathy.

More in addition: It was also noted the hypertrabecular structure of  LV apex and left ventricular dyssynchrony (atrioventricular, intra- and interventricular). The ratio of the duration of the cardiac cycle (RR interval) and left ventricular diastolic filling time was 30%, AoValve presystolic delay - 156 ms, septal-lateral delay of 115 ms, the maximum delay for the 12 segments of 142 ms, dyssynchrony index - 82 ms).

Another problem is cardiac syncope. The reason of syncope is either bradycardia or VT (more probable). He is potential candidate for defibrillator AICD/DDD-R. For that reason he should be evaluated by electrophysiologist as well.

It would be very good to know the exact diagnosis (genetic testing) of this syndrome (cardiomyopathy + muscular disorder + mental deficiency) together with prognosis of the disorder. 

Kind regards,

Daniel 

Yes, ideally, he is a potential candidate for CRT-D implantation with followed   by implementation of RFA-isthmus after effect monitoring of  HF/ and anticoagulant treatment with  assessing the state of the left atrial appendage. 

Dear, Dr. Daniel, thank you for an interesting view of this case. We have identified truncating mutation in LAMP2 gene, that very likely caused Danon disease (DD). DD is a rare genetic disorder characterized by an X-linked dominant inheritance pattern, as a result of which males are more severely affected than females. Among males, the key features are diseased heart muscle (cardiomyopathy), weakness of the body muscles (skeletal myopathy) and intellectual disability ranging from mild learning problems to overt intellectual disability. However, symptoms of Danon disease vary from case to case and depend on gender. In this case, the classic symptoms were presented:

• intellectual disability (mild cognitive deficit was identified)
• muscular disorder (proximal muscles involvement: back, shoulder, upper legs and the neck muscles)
• males with DD typically have abnormalities on certain laboratory tests (CPK and liver enzyme levels elevated)
• electrocardiogram abnormality in conduction and extremely high  QRS voltage 
• However, some atypical cardiomyopathy was present. Moderate and asymmetric LV hypertrophy (posterior wall thickness - 15 mm, intraventricular septum - 21-23 mm) was detected as opposed to the more common symmetric more severe LVH (to 45-65mm). Perhaps this is phenomen due to late diagnosis of the DD - the stage transformed into dilatation phenotype with HF

Thank you. Kind Regards

Hello, Tatiyana. Which shoulder shows evidence of muscle wasting? I'm not an expert in the field, per se, but my daughter is a cardiac patient and has a 25% curvature of the spine toward the left. I wonder if this young man maintains sufficient levels of fluid to ensure proper movement of, and nourishment by, the blood to his heart. My daughter will not drink tap water because it tastes awful here in North Texas, USA. So I boil tap water for 10 minutes, allow it to cool, and then refrigerate it. This way she is sure to get that necessary blood bulk to keep the heart at optimum function.

Not expert commentary, but something here may cause a spark.