Table 1 Laminopathy patient cardiac samples used for telomere quantification
From: Telomere shortening in laminopathic dilated cardiomyopathy
Phenotype | Gender | Age of transplant | Molecular Anomaly | Expected Protein Consequences | Onset of Cardiac Phenotype | Clinical Manifestations |
|---|---|---|---|---|---|---|
DCM-CD | F | 50 | LMNA: c.28dup; p.Thr10AsnfsX31 | haplo LMNA | 34 yo: VT | AVB-I, non sustained and sustained VT requiring ICD at 45 yo, AF, DCM |
DCM-CD | F | 53 | LMNA: c.28dup; p.Thr10AsnfsX31 | haplo LMNA | Unknown | AF + DCM |
EDMD | M | 18 | LMNA: c1135C>T; p.Leu379Phe | missense LMNA | 12 yo: PVC + non sustained VT | myopathy with joint contractures + AF + incomplete LBBB + PVC + sustained VTDCM |
EDMD | M | 27 | EMD: c.600-313del ; p.Trp200CysfsX5 | absence of emerin | 24 yo: ventricular fibrillation, sudden death | myopathy with joint contractures, sudden death, ventricular fibrillation requiring ICD at 24 yo, bifascicular block, DCM, |
EDMD | M | 53 | LMNA:c.16 C > T; p.Gln6X | haplo LMNA | 36 yo: AF | myopathy with joint contractures, AF, non sustained and sustained VT requiring ICD at 52 yo, DCM |
EDMD | M | 57 | LMNA:c.16 C > T; p.Gln6X | haplo LMNA | 23 yo: AVB-I, PVC | myopathy with joint contractures, AF, AVB-III requiring PM, on sustained and sustained VT requiring ICD at 47 yo, DCM |
LGMD1B | F | 45 | LMNA: c.746 G > C; p.Arg249Pro | missense LMNA | 40 yo: AF | proximal myopathy + AVB-III requiring PM at 42, DCM |
LGMD1B | F | 49 | LMNA: c.28dup; p.Thr10AsnfsX31 | haplo LMNA | Unknown | proximal myopathy AF + AVB-I + VT + DCM |
LGMD1B | F | 54 | LMNA: c.28dup; p.Thr10AsnfsX31 | haplo LMNA | 46 yo: PAC + AVB-I + Luciani-Wenckebach periods requiring PM | proximal myopathy + AF + DCM |
LGMD1B | M | 55 | LMNA: c.28dup; p.Thr10AsnfsX31 | haplo LMNA | Unknown | proximal myopathy + AF + AVB-I + DCM |
LGMD1B | M | 59 | LMNA: c.28dup; p.Thr10AsnfsX31 | haplo LMNA | Unknown | proximal myopathy + AF + AVB-III requiring PM, VT requiring ICD at 57 yo + DCM |
LGMD1B | F | 60 | LMNA: c.28dup; p.Thr10AsnfsX31 | haplo LMNA | 38 yo: AF | proximal myopathy + AF + AVB-I and AVB-II requiring PM, sustained VT requiring ICD at 54 yo, DCM |
LGMD1B | F | 62 | LMNA: c.28dup; p.Thr10AsnfsX31 | haplo LMNA | Unknown | proximal myopathy + AF + DCM |
