Fatty and fibrous tissue replaces right ventricular muscle in ARVD1, causing palpitations and fainting; PKP2, DSP and DSG2 testing confirms it and screens family.
Congenital contractures of the hands and feet, clubfoot and camptodactyly define DA1A, and TPM2 or MYH3 findings confirm this autosomal dominant condition.
Restricted eye movement, abnormal electroretinogram responses and joint contractures occur together in AOEAS, which genetic testing confirms when symptoms overlap.
Mutations in FLNB disrupt filamin B, producing micromelia, scoliosis and joint dislocations; sequencing confirms Atelosteogenesis Type I prenatally or after birth.
Beyond short stature and bowed, dislocating limbs, AOIII can bring bladder stones and proteinuria; X-rays and FLNB testing confirm it and shape monitoring.
Oxygen-rich and oxygen-poor blood mix through a hole between the upper heart chambers; echocardiography, ECG, MRI and catheterization confirm ASD and gauge its size.
Blood and protein in the urine, hearing loss and eye changes trace back to faulty type IV collagen. COL4A3, COL4A4 or COL4A5 results confirm ADAS.
Thickened skin on the palms and soles alongside absent hair from birth calls for physical examination, family history and gene testing to reach a diagnosis.