Fibro-fatty tissue replaces right ventricular muscle, disrupting electrical conduction and causing palpitations, fainting and sometimes sudden cardiac death.
The left ventricle enlarges and contracts poorly, often silently until heart failure appears; an LMNA mutation that reduces lamin expression is one known cause.
Hereditary syndromes such as BRCA1, BRCA2, Lynch syndrome and Peutz-Jeghers raise risk in some families, and cascade testing lets relatives learn their own status.
Stiffening of the heart muscle stops the heart filling properly; a reported FLNC variant, early onset and relative screening are covered on this page.
Explore how genetic testing enhances diagnosis, early detection, and personalized care for Feingold Syndrome, offering hope and guidance for affected families.
Short stature, distinctive facial features and underdeveloped cartilage point to fibrochondrogenesis, which testing ties to COL11A1 and COL11A2 mutations.
Myoclonic jerks followed by sudden loss of muscle tone cause falls; of 38 children studied for progressive myoclonic epilepsy, 78.9% had an identified mutation.
Craniofacial anomalies and vertebral defects define Goldenhar syndrome, or oculo-auriculo-vertebral spectrum; testing supports diagnosis in atypical cases.