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. 2018 Oct 25;5(2):e000915. doi: 10.1136/openhrt-2018-000915

Figure 3.

Figure 3

Hierarchical clustering of subphenotypic attributes in lamin heart disease. A dendrogram (A) was generated by unsupervised hierarchical clustering of 176 reported mutations. The horizontal limbs of the dendrogram represents the distance or dissimilarity between clusters. The vertical axis represents the objects and clusters. Fusion of two clusters is represented by a horizontal line splitting into two horizontal lines. The horizontal position of the split, shown by the short vertical line, summarises the dissimilarity between the two clusters. Looking at this dendrogram, one can see four clusters as four branches that occur at about the same horizontal distance. The phenotypic clusters were identified according to phenotype severity. The discontinuous green box (purple dendrogram at the top) highlights the mildest phenotype cluster, while the discontinuous red box (burgundy dendrogram at the bottom) highlights a cluster with MVA but not aHF that is enriched with non-missense mutations. AU p values per cluster are shown in red. Heat map key (B) denotes the relative intensities of each subphenotypic attribute scored in a sequential green colour gradient (extending over three units: 0, 1, 2). Values ≥95% are strongly supported by data. Coloured ribbons (C–E) summarise mutation-specific properties: (C) non-missense in green, missense in grey; (D) DNA location upstream of NLS in red, downstream in tan; (E) DNA location upstream of the tail in blue, downstream in tan. The subphenotype per mutation is presented in the form of a heatmap (F). The mutation list is provided on the far right (G). aHF, advanced heart failure defined as heart transplantation, death from end-stage heart failure or New York Heart Association functional class III/IV; AU, approximately unbiased; CCD, cardiac conduction system disease; CK, elevated creatine phosphokinase; juvenile, age of phenotypic penetrance <25 or ≥25 years, considering the earliest reported age of phenotypic expression in the proband or affected family members; M-system, multisystem involvement; MVA, malignant ventricular arrhythmia defined as sudden cardiac death, resuscitation or appropriate defibrillator therapy; SA, supraventricular arrhythmia; VA, any type of documented ventricular arrhythmia including ventricular ectopy. Other abbreviations as in figure 1.