I am a researcher, trying to help a 22-year-old patient, with a very complexed and rare condition: The patient was diagnosed with cardiomyopathy dilated, in addition to congestive heart disorder, bicuspid aortic valve, bradycardia, scoliosis, and restrictive pulmonary disorder. He also has/had a medical history of congenital hypotonia of the upper torso, cleft palate, dysmorphic features, undescended testis, and was treated with growth hormone. His left ventricle cavity size is severely dilated, and systolic function is severely reduced. Increased B-type natriuretic peptide (BNP, 1628 pg/ml) and uric blood (10.2 mg/ml). He is currently treated with Entresto, Spironolactone, Cardiloc, Fusid, Aspirin, and Digoxin. An ICDIVV was implanted a few months ago. No genetic syndrome was identified: Noonan was suspected, but no know relevant mutation was found- only INS HIS 43 in the CBL gene but was also detected in the father, VCF-negative). CMA test was normal. Family history: Mother: BRCA2, 5 spontaneous abortions; Father: gout; sister: optic atrophy (since the age of 4; mitochondrial DNA- normal). Did anyone happen to come across cases with a similar complexed pattern? Any insights that might help the patient? Thank you all in advance
