Considerations about the genetics of left ventricular hypertrabeculation/non-compaction

Is T1-Mapping Truly Superior to Late Gadolinium Enhancement-Imaging in Demonstrating Myocardial Fibrosis in Myopathy- and Non-Myopathy Associated Noncompaction?

“…Arguments against a causal relation are that mutations in >40 genes and several chromosomal defects hardly can have the same phenotype, that frequently LVHT does not segregate with a given mutation within a family, that cardiac manifestations in families carrying such mutations are heterogeneous, that LVHT can be acquired, and that in families with an autosomal dominant disease, LVHT may not occur in each generation. 2 We also do not agree with the statement that the major clinical presentation of LVHT is heart failure, thromboembolism, or ventricular arrhythmia. 3 The major clinical presentation of LVHT is the asymptomatic patient.…”

Postnatal Prognosis of Fetal Noncompaction Is Uncertain in Sibs Carrying a Pkp2 Deletion

“…Concerning the assumption that the PKP2 deletion was responsible for the development of LVHT, it has to be stressed that a causal relation between any of the mutations in >40 genes and several chromosomal defects so far described and LVHT has never been proven 4 . Thus far, LVHT is associated with genetic disease but several arguments can be raised against a causal relation.…”

Lamin A/C Mutations Do Not Cause Left Ventricular Hypertrabeculation/Noncompaction

“…One argument against a causal relation between the many mutated genes and LVHT is that a large number of different genes are associated with LVHT. 2 Another argument is that a mutation is often present in various family members, but only one member presents with LVHT. Furthermore, a mutation might be associated with dif ferent myocardial manifestations in the same family, such as LVHT, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmias, or sudden cardiac death.…”