Additional specialist review was indicated for 16 (35%) probands, including neurologist for three (7%) with Emery-Dreifuss muscular dystrophy due to FHL1 variants previously diagnosed as HCM, three (7%) with myofibrillar myopathy due to DES variants, and two (4%) undiagnosed individuals with histiocytoid cardiomyopathy due to variants in NDUFB11; clinical geneticist (n = 5, 11%); and referral to a specialised Fabry disease clinic (n = 2, 4%) including one who subsequently commenced enzyme-replacement therapy. Here, NDUFB11 is linked to Fabry disease.