Noncompaction Cardiomyopathy Outcomes

Authors:
van Waning JI, Caliskan K, Hoedemaekers YM, et al.
Citation:
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy. J Am Coll Cardiol 2018;71:711-722.

The following are key points to remember from this report on a multicenter retrospective study from the Netherlands that analyzed patients with noncompaction cardiomyopathy (NCCM).

  1. NCCM is characterized by excessive trabeculations typically involving the left ventricle (LV) with >2:1 ratio of noncompacted:compacted myocardium.
  2. Due in part to improved imaging with echocardiography and magnetic resonance imaging, clinical awareness and appreciation for the marked heterogeneity of this disorder is increasing. Clinical manifestations include LV dysfunction, congestive heart failure, ventricular tachycardia, sudden cardiac death, and thromboembolic complications.
  3. A family history, usually with an autosomal dominant pattern of inheritance, is present in up to 50% of patients. Sarcomere gene mutations are the most common identified and most of the genes involved are also implicated in hypertrophic and dilated CM.
  4. The current study involved analysis of 327 patients diagnosed with NCCM from four cardiogenetic centers. Gene mutations were identified in 32% of patients (“genetic”; 81 adults, 23 children), while a family history without mutation occurred in another 16% of patients (“probably genetic”; 45 adults, 8 children). The remaining 52% had no family history or mutation (“sporadic”; 149 adults, 21 children).
  5. At presentation, 83% of children and 85% of adults were symptomatic, with the most common symptoms related to heart failure and arrhythmias.
  6. Most of the mutations identified occurred in genes MYH7, MYBPC3, and TTN (testing panel consisted of 45 CM genes). Patients testing positive for mutations were at greater risk of LV dysfunction than probable genetic and sporadic cases.
  7. During a median follow-up of 5 years, major adverse cardiac events (MACE) (cardiac death, LV assist device, heart transplant, aborted sudden cardiac death, implantable cardioverter-defibrillator shock, or ischemic stroke) occurred in 27% of children and 21% of adults. MACE were increased in children with probable genetic NCCM, those with diagnosis <1 year of age, multiple mutations, and those with LV dysfunction.
  8. LV dysfunction was associated with increased risk for MACE (hazard ratio, 1.7) overall; however, low risk for MACE was present in patients with a MYH7 mutation even after correction for LV function. MACE was not related to LV function in the sporadic group of patients.
  9. Female patients suffered more cardiac arrest than males (11% vs. 2%) and more adult females experienced ischemic stroke than males (9% vs. 3%). Patients with associated congenital heart defects (CHDs) were at particularly high risk of stroke compared to those without CHD (56% vs. 5%).
  10. Although referral bias may have influenced some of the results, this study highlights the heterogeneity of NCCM and indicates a need for enhanced genotyping and phenotyping of this complex group of patients to aid in prognostication and treatment strategies.

Clinical Topics: Acute Coronary Syndromes, Arrhythmias and Clinical EP, Cardiac Surgery, Congenital Heart Disease and Pediatric Cardiology, Diabetes and Cardiometabolic Disease, Heart Failure and Cardiomyopathies, Invasive Cardiovascular Angiography and Intervention, Noninvasive Imaging, Implantable Devices, SCD/Ventricular Arrhythmias, Atrial Fibrillation/Supraventricular Arrhythmias, Aortic Surgery, Cardiac Surgery and Arrhythmias, Cardiac Surgery and CHD and Pediatrics, Cardiac Surgery and Heart Failure, Congenital Heart Disease, CHD and Pediatrics and Arrhythmias, CHD and Pediatrics and Imaging, CHD and Pediatrics and Interventions, CHD and Pediatrics and Prevention, Acute Heart Failure, Heart Transplant, Mechanical Circulatory Support, Interventions and ACS, Interventions and Imaging, Interventions and Structural Heart Disease, Echocardiography/Ultrasound, Magnetic Resonance Imaging

Keywords: Acute Coronary Syndrome, Arrhythmias, Cardiac, Cardiomyopathies, Cardiomyopathy, Dilated, Cardiomyopathy, Hypertrophic, Death, Sudden, Cardiac, Defibrillators, Implantable, Echocardiography, Genotype, Heart Arrest, Heart-Assist Devices, Heart Defects, Congenital, Heart Failure, Heart Transplantation, Magnetic Resonance Imaging, Metabolic Syndrome X, Mutation, Myocardium, Stroke, Tachycardia, Ventricular


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