Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.
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Gigli Marta, Stolfo Davide, Graw Sharon L, Merlo Marco, Gregorio Caterina, Nee Chen Suet, Dal Ferro Matteo, PaldinoMD Alessia, De Angelis Giulia, Brun Francesca, Jirikowic Jean, Salcedo Ernesto E, Turja Sylvia, Fatkin Diane, Johnson Renee, van Tintelen J Peter, Te Riele Anneline S J M, Wilde Arthur A M, Lakdawala Neal K, Picard Kermshlise, Miani Daniela, Muser Daniele, Maria Severini Giovanni, Calkins Hugh, James Cynthia A, Murray Brittney, Tichnell Crystal, Parikh Victoria N, Ashley Euan A, Reuter Chloe, Song Jiangping, Judge Daniel P, McKenna William J, Taylor Matthew R G, Sinagra Gianfranco, Mestroni Luisa
Аннотация
METHODS: FLNCtv carriers were identified from 10 tertiary care centers for genetic cardiomyopathies. Clinical and outcome data were compiled. Composite outcomes were all-cause mortality/heart transplantation/left ventricle assist device (D/HT/LVAD), nonarrhythmic death/HT/LVAD, and sudden cardiac death/major ventricular arrhythmias. Previously established cohorts of 46 patients with LMNA and 60 with DSP-related arrhythmogenic cardiomyopathies were used for prognostic comparison.
RESULTS: Eighty-five patients carrying FLNCtv were included (42±15 years, 53% men, 45% probands). Phenotypes were heterogeneous at presentation: 49% dilated cardiomyopathy, 25% arrhythmogenic left dominant cardiomyopathy, 3% arrhythmogenic right ventricular cardiomyopathy. Left ventricular ejection fraction was <50% in 64% of carriers and 34% had right ventricular fractional area changes (RVFAC=(right ventricular end-diastolic area - right ventricular end-systolic area)/right ventricular end-diastolic area) <35%. During follow-up (median time 61 months), 19 (22%) carriers experienced D/HT/LVAD, 13 (15%) experienced nonarrhythmic death/HT/LVAD, and 23 (27%) experienced sudden cardiac death/major ventricular arrhythmias. The sudden cardiac death/major ventricular arrhythmias incidence of FLNCtv carriers did not significantly differ from LMNA carriers and DSP carriers. In FLNCtv carriers, left ventricular ejection fraction was associated with the risk of D/HT/LVAD and nonarrhythmic death/HT/LVAD.
CONCLUSIONS: Among patients referred to tertiary referral centers, FLNCtv arrhythmogenic cardiomyopathy is phenotypically heterogeneous and characterized by a high risk of life-threatening arrhythmias, which does not seem to be associated with the severity of left ventricular dysfunction.