ABSTRACT
Background: Takotsubo cardiomyopathy (TC) or stress-induced cardiomyopathy is a transient heart condition that clinically resembles an acute coronary syndrome. This study aims to assess the incidence of life-threatening arrhythmias in patients with Takotsubo cardiomyopathy and evaluate the outcomes of patients with life-threatening arrhythmias (LTAs) in Takotsubo cardiomyopathy compared with those without LTA. Methods: We comprehensively searched the PubMed, Google Scholar, and Embase databases from inception to February 2021. The primary aim of the study was to determine the incidence of LTAs in TC patients. Other outcomes of interest were the odds of in-hospital, long-term mortality, and cardiogenic shock (CS) in TC patients with LTAs versus those without LTAs. For all statistical analyses, ReviewManager and MedCalc were used. Results: Eighteen studies were included in this study involving 55,557 participants (2,185 with LTAs and 53,372 without LTAs). The pooled incidence of LTAs in the patients of TC was found to be 6.29% (CI: 4.70 e8.08%; I2 ¼ 94.67%). There was a statistically significant increased risk of in-hospital mortality (OR ¼ 4.74; CI: 2.24e10.04; I2 ¼ 77%, p < 0.0001) and cardiogenic shock (OR ¼ 5.60; CI: 3.51e8.95; I2 ¼ 0%, p < 0.00001) in the LTA group versus the non-LTA group. LTA was not associated with long-term mortality (OR ¼ 2.23; CI: 0.94e5.28; I2 ¼ 53%, p ¼ 0.07). Conclusion: The pooled incidence of life-threatening arrhythmias in the patients of TC was found to be 6.29%. In the group of TC patients with LTAs, the odds of in-hospital mortality and CS, was higher than in the TC patients without LTAs.
ABSTRACT
RESUMEN Introducción: el síndrome de Kabuki es un desorden pediátrico congénito de origen genético. Los pacientes presentan anormalidades morfológicas como paladar hendido, globos oculares prominentes, eversión del tercio externo del párpado inferior, persistencia de cojinetes dactilares y anormalidades vertebrales. La mayoría cursan con dificultad del aprendizaje. Objetivo: reportar un caso pediátrico de síndrome de Kabuki y fomentar el reconocimiento del fenotipo asociado para facilitar su diagnóstico oportuno. Caso Clínico: paciente masculino de 9 años con características clínicas y diagnóstico genético probable para síndrome de Kabuki. Presenta fisuras palpebrales largas, paladar en ojival, baja implantación auricular, persistencia de almohadillas en pulpejos de dedos, talla baja y colangitis esclerosante primaria. Conclusión: el síndrome de Kabuki tipo 1, se caracteriza por alteraciones faciales que inducen una sospecha diagnóstica. El paciente reportado presentaba múltiples hallazgos descritos. En el estudio genético realizado se considera la variante identificada en el gen KMT2D, probablemente patogénica.
SUMMARY Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. Objective: Report a pediatric case of Kabuki Syndrome to increase the recognition of the phenotype associated with it and the likelihood of a diagnosis with the use of a clinical case report. Case report: A nine-year-old male patient with clinical characteristics and probable genetic diagnosis of Kabuki Syndrome. He exhibits elongated eyelids, cleft palate, low auricular implantation, persistence of fingerpads, reduced height, and primary sclerosing cholangitis. Conclusion: Diagnostic suspicion of type one Kabuki Syndrome is characterized mainly by facial alterations. The following patient presents multiple distinctive characteristics described in literature. A genetic study considers the gene KMT2D a possible pathologic genetic variant of the disease.