Klinische FragestellungLinksventrikuläre "non-compaction"- Kardiomyopathie, Differentialdiagnose

NGS +

Bei linksventrikulärer "non-compaction" (LVNC)- Kardiomyopathie ist der linke Ventrikel nicht ordnungsgemäß entwickelt und kann daher weder korrekt kontrahieren noch vollständig zur Füllung entspannen. Morphologisch ist LVNC durch eine verdünnte, kompakte Myokard-Schicht und verdicktes trabekuläres Myokard gekennzeichnet. LVNC ist klinisch sehr heterogen, und die Bandbreite der betroffenen Patienten reicht von asymptomatisch bis hin zu schweren Herzfunktionsstörungen oder sogar plötzlichem Herztod. Zu den Symptomen gehören weiterhin Blutgerinnsel, Herzrhythmus-Störungen, Herzklopfen, Belastungs-Intoleranz, Dyspnoe, Synkopen und Lymphödeme. LVNC kann in jedem Alter vorkommen; 67% der Patienten entwickeln eine Herzinsuffizienz. LVNC kann auch Teil eines komplexen Syndroms sein oder auch bei wenigen Erstlings-Schwangeren auftreten. Mutationen in den Genen MYH7, MYBPC3 und TTN können bis zu >40 % der Fälle verursachen; Varianten in anderen Genen sind jeweils für einen kleinen Prozentsatz verantwortlich, und oft bleibt die Ursache unklar. LVNC kann unterschiedliche Vererbungsmuster haben. In den meisten Fällen, auch wenn sie durch Varianten in den Genen MYH7/MYBPC3/TTN verursacht wird, wird LVNC autosomal dominant vererbt. Ein negatives Ergebnis in den molekulargenetischen Tests schließt die klinische Diagnose nicht aus.

Referenz: 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)