Coffin–Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern

Abstract

Coffin-Lowry syndrome (CLS) is an X-linked dominant condition characterized by moderate to severe mental retardation, characteristic facies, and hand and skeletal malformations. The syndrome is due to mutations in the gene that encodes the ribosomal protein S6 kinase-2, a growth factor-regulating protein kinase located on Xp22.2. Cardiac anomalies are known to be associated with CLS. Left ventricular noncompaction (LVNC) is a clinically heterogeneous disorder characterized by left ventricular (LV) myocardial trabeculations and intertrabecular recesses that communicate with the LV cavity. Patients may present with a variety of clinical phenotypes, ranging from a complete absence of symptoms to a rapid, progressive decline in LV systolic and diastolic function, resulting in congestive heart failure, malignant ventricular tachyarrhythmias, and systemic thromboembolic events. Restrictive cardiomyopathy is an uncommon primary cardiomyopathy characterized by biatrial enlargement, normal or decreased biventricular volume, impaired ventricular filling, and normal or near-normal systolic function. We describe a patient with CLS and LVNC with a restrictive pattern, as documented by echocardiography and cardiac catheterization. To our knowledge, there have been no previous reports of concomitant CLS and LVNC. On the basis of our case, we suggest that patients with CLS be screened not only for congenital structural heart defects but also for LVNC cardiomyopathy.

Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association

“…506,514,515 LVNC has also been associated with chromosome 8p23.1 deletion. 516 LVNC can be associated with other syndromes with genetic mutations such as Coffin-Lowry syndrome, Sotos syndrome, Hunter-McAlpine syndrome, [517][518][519] and Charcot-Marie-Tooth disease. 520 Genetic testing in patients with LVNC appears to detect clinically significant variants in 35% to 40% of people, with most-common sarcomere-encoding genes.…”

Cardiomyopathy Phenotypes and Outcomes for Children With Left Ventricular Myocardial Noncompaction: Results From the Pediatric Cardiomyopathy Registry

“…30 Recent reports indicate that LVNC may also occur with other clinical syndromes. 35,36 Furthermore, LVNC may be seen commonly in children with congenital heart disease. 37 Familial occurrence of LVNC has been reported and may be as high as 30%.…”

Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A‐associated Cornelia de Lange syndrome

“…The first identified genetic abnormality causing LVNC (without congenital heart disease) was a mutation in the X‐lined TAZ gene which encodes tafazzin , an acyltransferase which is critical for remodeling of cardiolipin in the mitochondrial membrane, and which is now known to cause Barth syndrome [Bleyl et al, ]. LVNC has also been linked with several chromosomal disorders and genetic syndromes, including chromosome 1p36 deletion [Battaglia et al, ; Lee et al, ], 22q11 deletion [Branton et al, ], trisomies 18 and 13 [McMahon et al, ; Beken et al, ; Yukifumi et al, ], Coffin–Lowry syndrome [Martinez et al, ], and Charcot–Marie–Tooth disease [Corrado et al, ; Eltawansy et al, ], among others.…”