Key result
The rare MYH7 intron 8 splicing mutation (c.818+1G>A) was associated with typical left ventricular non-compaction lesions on cardiac magnetic resonance, even in a clinically asymptomatic carrier.
Why the study?
MYH7 splicing mutations are very rare and seem restricted to patients with myopathy of LVNC.
Case Report (n=2)
No
The rare MYH7 intron 8 splicing mutation (c.818+1G>A) is associated with high morphological penetrance of LVNC on CMR, even in clinically asymptomatic carriers.
Answers are grounded in this paper and cite their sources.
May guide genetic evaluation in LVNC; leaves open pathogenicity and clinical utility of this MYH7 variant.
Left Ventricular Noncompaction (LVNC) is a cardiac disease characterized by a trabecular meshwork and deep intertrabecular myocardial recesses that communicate with the left ventricular cavity. MYH7 splicing mutations are very rare, and seem to be restricted to patients with myopathy of LVNC. We characterized at the Cardiac Magnetic Resonance (CRM) and genetic levels in one individual (index case) from a family with LVNC. The patient was heterozygous carrier of a splicing MYH7 intron 8 variant (c.818+1G>A). One of his sons was also mutation carrier but clinically asymptomatic. However, the CRM showed the presence of LVNC. We concluded that the rare MYH7 intron 8 splicing mutation was associated with typical LVNC lesions in the CRM, albeit mutation carriers remain clinically asymptomatic.
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Gómez et al. (2022) conducted a case report in Left Ventricular Noncompaction (LVNC) (n=2). MYH7 splicing variant (c.818+1G>A) was evaluated on Presence of LVNC morphological features on Cardiac Magnetic Resonance. The rare MYH7 intron 8 splicing mutation (c.818+1G>A) was associated with typical left ventricular non-compaction lesions on cardiac magnetic resonance, even in a clinically asymptomatic carrier.
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