JACC. Case reports · 2026
Cardiac-Predominant Fukutinopathy Caused by Novel Compound Heterozygous FKTN Variants: A Diagnostic and Genetic Odyssey.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Imayavaramban Balaji, Kumar Pramod, Chowdhury Ritabrata Roy, Harish Pydi, Lone Muzamil Yousuf, Nagesh Sharath, Sreedharan Sapna Erat, Namboodiri Narayanan
Аннотация
BACKGROUND: Fukutinopathy is a rare autosomal recessive dystroglycanopathy caused by pathogenic FKTN variants. Cardiac-predominant presentations without overt neuromuscular manifestations are uncommon.
CASE SUMMARY: We report a 30-year-old Indian man with dilated cardiomyopathy, persistent QT prolongation, subepicardial late gadolinium enhancement on cardiac magnetic resonance imaging, and hyperCKemia. Whole-exome sequencing identified compound heterozygous FKTN variants: c.1112A > G (p.Tyr371Cys; likely pathogenic) and c.1224G > T (p.Lys408Asn; variant of uncertain significance). Parental Sanger sequencing confirmed trans inheritance. Genotype-directed evaluation subsequently revealed clinically silent skeletal myopathy. Guideline-directed medical therapy was initiated, and left ventricular systolic function remained stable at 6-month follow-up.
CONCLUSIONS: This case expands the cardiac spectrum of Fukutinopathy by demonstrating a cardiac-predominant phenotype with subclinical myopathy. Comprehensive genetic evaluation with segregation analysis should be considered in selected patients with unexplained nonischemic cardiomyopathy, even in the absence of overt neuromuscular features.
CASE SUMMARY: We report a 30-year-old Indian man with dilated cardiomyopathy, persistent QT prolongation, subepicardial late gadolinium enhancement on cardiac magnetic resonance imaging, and hyperCKemia. Whole-exome sequencing identified compound heterozygous FKTN variants: c.1112A > G (p.Tyr371Cys; likely pathogenic) and c.1224G > T (p.Lys408Asn; variant of uncertain significance). Parental Sanger sequencing confirmed trans inheritance. Genotype-directed evaluation subsequently revealed clinically silent skeletal myopathy. Guideline-directed medical therapy was initiated, and left ventricular systolic function remained stable at 6-month follow-up.
CONCLUSIONS: This case expands the cardiac spectrum of Fukutinopathy by demonstrating a cardiac-predominant phenotype with subclinical myopathy. Comprehensive genetic evaluation with segregation analysis should be considered in selected patients with unexplained nonischemic cardiomyopathy, even in the absence of overt neuromuscular features.