Giant right coronary artery aneurysm secondary to Kawasaki disease in an infant

Kawasaki disease (KD) is a potentially decapacitating multisystemic vasculitis with unknown etiology that acquired worldwide attention due to associated coronary aneurysms leading to life-threatening complications in very young babies including thrombosis, ischemia, and rupture. High levels of suspicion for early diagnosis and prompt treatment are crucial in preventing serious complications. We report here one of the patients who developed a giant coronary aneurysm but fortunately not a life-threatening complication after 5 years of follow-up. We conclude that later intravenous immunoglobulins (IVIG) treatment could be an important factor—among others—that precipitate into such complications. Keywords: Coronary artery, Echocardiogram, Giant coronary artery aneurysm, Infant, Kawasaki diseas

Genetic Insights from Consanguineous Cardiomyopathy Families

Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous and typically present with an autosomal dominant mode of transmission. Whole exome sequencing and autozygosity mapping was carried out in eight un-related probands from consanguineous Middle Eastern families presenting with HCM/DCM followed by bioinformatic and co-segregation analysis to predict the potential pathogenicity of candidate variants. We identified homozygous missense variants in TNNI3K, DSP, and RBCK1 linked with a dilated phenotype, in NRAP linked with a mixed phenotype of dilated/hypertrophic, and in KLHL24 linked with a mixed phenotype of dilated/hypertrophic and non-compaction features. Co-segregation analysis in family members confirmed autosomal recessive inheritance presenting in early childhood/early adulthood. Our findings add to the mutational spectrum of recessive cardiomyopathies, supporting inclusion of KLHL24, NRAP and RBCK1 as disease-causing genes. We also provide evidence for novel (recessive) modes of inheritance of a well-established gene TNNI3K and expand our knowledge of the clinical heterogeneity of cardiomyopathies. A greater understanding of the genetic causes of recessive cardiomyopathies has major implications for diagnosis and screening, particularly in underrepresented populations, such as those of the Middle East