IllnessLinksventrikuläre "non-compaction"- Kardiomyopathie, Differentialdiagnose

NGS +

In left ventricular "non-compaction" (LVNC) cardiomyopathy, the left ventricle is not adequately developed and therefore cannot contract properly or relax completely to fill. Morphologically, LVNC is characterized by a thinned, compact myocardial layer and thickened trabecular myocardium. LVNC is clinically heterogeneous, and affected patients range from asymptomatic to severe cardiac dysfunction or even sudden cardiac death. Symptoms continue to include blood clots, cardiac rhythm disturbances, palpitations, exercise intolerance, dyspnea, syncope and lymphedema. LVNC can occur at any age; 67% of patients develop heart failure. LVNC may also be part of a complex syndrome or occur in a few first-time pregnant women. Mutations in the MYH7, MYBPC3 and TTN genes can cause up to >40% of cases; variants in other genes each account for a small percentage, and often the cause remains unclear. LVNC can have different inheritance patterns. In most cases, e.g. when caused by variants in the MYH7/MYBPC3/TTN genes, LVNC is inherited in an autosomal dominant manner. A negative result in molecular genetic testing does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8199228/

• Alias: Fetal myocardium
• Alias: Honeycomb myocardium
• Alias: Hypertrabeculation syndrome
• Alias: Hypertrabekulierung, linksventrikuläre
• Alias: Isolated noncompaction of the ventricular myocardium
• Alias: LVNC, LVHT
• Alias: Left ventricular hypertrabeculation
• Alias: Left ventricular myocardial noncompaction cardiomyopathy
• Alias: Left ventricular non-compaction
• Alias: Myokard, spongiöses
• Alias: Non-compaction of the left ventricular myocardium
• Alias: Noncompaction cardiomyopathy
• Alias: Spongy myocardium
• Allelic: Alzheimer disease, susceptibility to (HFE)
• Allelic: Arrhythmogenic right ventricular dysplasia 12 (JUP)
• Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Allelic: Arrhythmogenic right ventricular dysplasia 9 (PKP2)
• Allelic: Atrial fibrillation, familial, 10 (SCN5A)
• Allelic: Atrial fibrillation, familial, 12 (ABCC9)
• Allelic: Atrial fibrillation, familial, 3 (KCNQ1)
• Allelic: Atrial septal defect 5 (ACTC1)
• Allelic: Brugada syndrome 1 (SCN5A)
• Allelic: Brugada syndrome 6 (KCNE3)
• Allelic: Brugada syndrome 8 (HCN4A)
• Allelic: Cardiac arrhythmia, ankyrin-B-related (ANK2)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
• Allelic: Cardiomyopathy, dilated, 1FF (TNNI3)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• Allelic: Cardiomyopathy, dilated, 1I (DES)
• Allelic: Cardiomyopathy, dilated, 1MM (MYBPC3)
• Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
• Allelic: Cardiomyopathy, dilated, 1R (ACTC1)
• Allelic: Cardiomyopathy, dilated, 1S (MYH7)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Cardiomyopathy, dilated, 1Z (TNNC1)
• Allelic: Cardiomyopathy, dilated, 2A (TNNI3)
• Allelic: Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, familial restrictive, 1 (TNNI3)
• Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
• Allelic: Cardiomyopathy, hypertrophic, 10 (MYL2)
• Allelic: Cardiomyopathy, hypertrophic, 11 (ACTC1)
• Allelic: Cardiomyopathy, hypertrophic, 13 (TNNC1)
• Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
• Allelic: Cardiomyopathy, hypertrophic, 4 (MYBPC3)
• Allelic: Cardiomyopathy, hypertrophic, 7 (TNNI3)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Congenital myopathy 5 with cardiomyopathy (TTN)
• Allelic: Congenital myopathy 7A, myosin storage, Ad (MYH7)
• Allelic: Congenital myopathy 7B, myosin storage, AR (MYH7)
• Allelic: Congenital myopathy 8 (ACTN2)
• Allelic: Developmental and epileptic encephalopathy 110 (CACNA2D1)
• Allelic: Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 18 (HCN4A)
• Allelic: Heart block, nonprogressive (SCN5A)
• Allelic: Heart block, progressive, type IA (SCN5A)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hemochromatosis (HFE)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
• Allelic: Intellectual disability + myopathy syndrome (ABCC9)
• Allelic: Jervell and Lange-Nielsen syndrome (KCNQ1)
• Allelic: Keratosis palmoplantaris striata II (DSP)
• Allelic: Laing distal myopathy (MYH7)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Long QT syndrome 1 (KCNQ1)
• Allelic: Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
• Allelic: Long QT syndrome 2 (KCNH2)
• Allelic: Long QT syndrome 3 (SCN5A)
• Allelic: Long QT syndrome 4 (ANK2)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Microvascular complications of diabetes 7 (HFE)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Muscular dystrophy, limb-girdle, Ar 10 (TTN)
• Allelic: Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
• Allelic: Muscular dystrophy-dystroglycanopathy, cong. without impaired intell. dev, type B, 4 (FKTN)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
• Allelic: Myopathy, distal, 6, adult onset (ACTN2)
• Allelic: Myopathy, myofibrillar, 1 (DES)
• Allelic: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MYL2)
• Allelic: Myopathy, myofibrillar, 4 (LDB3)
• Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Allelic: Naxos disease (JUP)
• Allelic: Porphyria cutanea tarda, susceptibility to (HFE)
• Allelic: Porphyria variegata, susceptibility to (HFE)
• Allelic: Restrictive dermopathy 2 (LMNA)
• Allelic: Rhabdomyolysis, susceptibility to, 1 (OBSCN)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Short QT syndrome 1 (KCNH2)
• Allelic: Short QT syndrome 2 (KCNQ1)
• Allelic: Sick sinus syndrome 1 (SCN5A)
• Allelic: Sick sinus syndrome 2 (HCN4A)
• Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Allelic: Transferrin serum level QTL2 (HFE)
• Allelic: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release def. syn. (RYR2)
• Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
• Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
• Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
• Cardiomyopathy, dilated, 1AA, +(- LVNC (ACTN2)
• Cardiomyopathy, dilated, 1C, +/- LVNC (LDB3)
• Cardiomyopathy, hypertrophic, 23, +/- LVNC (ACTN2)
• Left ventricular noncompaction 1, +/- congenital heart defects (DTNA)
• Left ventricular noncompaction 10 (MYBPC3)
• Left ventricular noncompaction 3 (LDB3)
• Left ventricular noncompaction 4 (ACTC1)
• Left ventricular noncompaction 5 (MYH7)