Cor Vasa 2022, 64(4):468-473 | DOI: 10.33678/cor.2021.119

(Fukutinopathy as a rare cause of dilated cardiomyopathy and subclinical skeletal myopathy - a case report and review of cardiac involvement in skeletal muscle disease)

Kateřina Bouzková^a, Miloš Kubánek^a, Alice Krebsová^a, Lenka Piherová^b, Petr Ridzoň^c, Tomáš Roubíček^d, Stanislav Kmoch^b, Vojtěch Melenovský^a, Josef Kautzner

^a Klinika kardiologie, Institut klinické a experimentální medicíny, Praha

^b Laboratoř lékařské genomiky a bioinformatiky, Klinika dětského a dorostového lékařství, 1. lékařská fakulta Univerzity Karlovy a Všeobecná fakultní nemocnice v Praze, Praha

^c Klinika neurologie, 3. lékařská fakulta Univerzity Karlovy a Fakultní Thomayerova nemocnice, Praha

^d Kardiocentrum, Krajská nemocnice Liberec, a.s., Liberec

Fukutinopathy belongs to α-dystroglykanopathies, autosomal recessive inherited skeletal muscle myopathies with a variable cardiac involvement. The disease was discovered in Japan with endemic occurrence as Fukuyama congenital skeletal dystrophy. However, it can be rarely diagnosed also in other countries with a different genetic architecture. We present a case of fukutinopathy in a young male of Czech origin with dilated cardiomyopathy and elevation of creatine phosphokinase. Neurologic assessment revealed just borderline signs of skeletal muscle myopathy. Whole-exome sequencing revealed in one allele a pathogenic missense variant of fukutin (FKTN) His172Leu, which was accompanied by a large deletion of exons 1-9 in the second allele of FKTN acting as a homozygous variant. Cardiac and neurologic status of the patient remained stable in the last four years. Recently, the patient has been diagnosed with a large epidermoid cyst of the fourth brain chamber causing a brainstem compression, which required a neurosurgical intervention. The finding could be related to congenital cerebral abnormalities seen in patients with fukutinopathies. In the context of this rare disease, we discuss diagnostics and management of cardiomyopathies associated with a skeletal muscle myopathy.

Keywords: Cardiomyopathy, Fukutin, Neuromuscular disease, Skeletal muscle dystrophy

Received: July 24, 2021; Revised: September 28, 2021; Accepted: October 16, 2021; Published: September 1, 2022  Show citation