MINIMASTER ELETTROCARDIOGRAFIA A.O. S. G. Moscati Avellino MINIMASTER ELETTROCARDIOGRAFIA Cosa deve sapere il Cardiologo clinico dell'ECG neonatale T.Lanzillo D.G. A.O.R.N. San Giuseppe Moscati AVELLINO

Blocco A-V e TV in neonato con sindrome del QT lungo congenita Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 1 Blocco A-V e TV in neonato con sindrome del QT lungo congenita C.P. nato il 30.11.04 Taglio cesareo alla 35^ settimana per riscontro ECO fetale di aritmia di dnd Peso alla nascita Kg. 3,200 Buone condizioni emodinamiche

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 1 Episodi transitori di cianosi All’same fisico fasi di bradicardia Esami ematochimici nella norma

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 2

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 1 QT Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37 Ritmo sinusale con BAV 2:1 QTc (QT=QT VRR )= 510 msec.

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 1 Anamnesi familiare: negativa per cardiopatie congenite, connettivopatie, morte improvvisa ECOCARDIO: normale Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 1

Impossibilità ad impiantare AICD Terapia con Mexiletina Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 1 Impossibilità ad impiantare AICD Terapia con Mexiletina Terapia con Beta-bloccanti (??) Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37

Mexiletina per os 5mg/kg Propranololo per os 6mg/kg Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 1 Magnesio solfato Mexiletina per os 5mg/kg Propranololo per os 6mg/kg Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 1 Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37 Ritmo sinusale a 120/min QTc (QT=QT VRR )= 480 msec.

Clinico-strumentale: negativo Genetico: negativo Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 1 Screening familiare Clinico-strumentale: negativo Genetico: negativo Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37 Screenig genetico del neonato: LQT3

Blocco A-V in neonato con sindrome del QT lungo acquisita Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 2 Blocco A-V in neonato con sindrome del QT lungo acquisita Femmina Nata alla 36^ settimana di gestazione da madre con diabete ID Alla nascita moderata tachipnea acidosi metabolica improvvisi episodi di bradicardia

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 2 Non cianosi Esame fisico: nulla di rilevante Anamnesi familiare: negativa per cardiopatie congenite, connettivopatie, morte improvvisa

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 2 ECG di presentazione QT Ritmo sinusale con BAV 2:1 QTc (QT=QT VRR )= 510 msec.

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 2

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 2 Esami ematochimici: Ipocalcemia Ipokaliemia Ipernatriemia Trattamento in acuto delle turbe elettrolitiche Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 2 ECG dopo 2 giorni QT Ritmo sinusale a 140 bpm QTc (QT=QT VRR )= 489 msec.

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino # CASO CLINICO 2 ECG dopo 7 giorni QT Ritmo sinusale a 142 bpm QTc (QT=QT VRR )= 410 msec.

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino QT lungo congenito e QT lungo acquisito DIVERSO SIGNIFICATO PROGNOSTICO DIVERSO TRATTAMENTO Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino Caratteristiche clinico-strumentali Score QTc (msec) ≥ 480 460-480 450 (nei maschi) 3 2 1 TV tipo torsione di punta T wave alternans positive Onda T con incisione in 3 derivazioni Bradicardia relativa per l’età Storia clinica Sincope da stress Sincope senza stress Sordità congenita 0.5 Storia familiare Familiari con LQTS accertata Morte improvvisa in età <30 anni in familiari prossimi

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino Molecular Biology Of Long-QT Syndrome Type of LQTS Chromosomal Locus Mutated Gene Ion Current Affected LQT1 11p15.5 KVLQT1, or KCNQ1 (heterozygotes) Potassium (IKs) LQT2 7q35-36 HERG, KCNH2 Potassium (IKr) LQT3 3p21-24 SCN5A Sodium (INa) LQT4 4q25-27 ANK2, ANKB Sodium, potassium and calcium LQT5 21q22.1-22.2 KCNE1 (heterozygotes) LQT6 MiRP1, KNCE2 LQT7 (Anderson syndrome) 17q23 KCNJ2 Potassium (IK1) LQT8 (Timothy syndrome) 12q13.3 CACNA1C Calcium (ICa-Lalpha) JLN1 KVLQT1, or KCNQ1 (homozygotes) JLN2 KCNE1 (homozygotes) Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37 N Engl J Med 2008;358:169-76.

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino Intervallo QT normale Intervallo QT normale Onda T allungata monofasica Onda T ampia con porzione terminale non ben definita (complesso T-U) Onda T ampia con sorta di incisura all’apice Onda T di forma sinusoidale Onda T ampia con piccola deflessione positiva sulla branca discendente Onda T di durata normale con allungamento dell’intervallo S-T

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37

Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37

REMARKS Cosa deve sapere il Cardiologo clinico dell'ECG neonatale A.O. S. G. Moscati Avellino REMARKS Importanza della diagnosi neonatale della LQTS Fondamentale ECG e sua corretta interpretazione Differenziare tra LQTS congenita ed acquisita Integrare con studio genetico quando indicato (silent mutation carriers) Electrocardiographic Patterns in the Three Common Forms of the Long-QT Syndrome. The LQT1 form of the long-QT syndrome is associated with a broad T wave without a shortening of the QT interval due to exercise (as shown in Fig. 1C). LQT2 is associated with low-amplitude, often bifid, T waves. LQT3 is associated with a long isoelectric segment and a narrow-based, tall T wave. Although patterns may suggest a specific genotype of the long-QT syndrome,5 many variants have been described.37