ABSTRACT
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.
Subject(s)
Cardiomyopathies , Cardiomyopathy, Dilated , Child, Preschool , Humans , Consanguinity , Cardiomyopathies/genetics , Cardiomyopathy, Dilated/genetics , Mutation , Mutation, Missense , Protein Serine-Threonine Kinases/geneticsABSTRACT
Isolated right superior vena cava (SVC) draining to the left atrium (RSVC-LA) is an extremely rare cyanotic congenital heart disease (CHD). Such lesion is easily missed with improper scanning or inattentive interpretation of echocardiography. This can result in potential systemic severe complications. We report a child with RSVC-LA who has two significant non-cardiac co-morbidities, including Waardenburg syndrome and n neurofibromatosis type I (NF1). This patient was referred to cardiology assessment due to unexplained low saturation and was diagnosed as RSVC-LA; however, fortunately not yet showing complications of systemic thromboembolic phenomenon (STEP).
ABSTRACT
The population of the Kingdom of Saudi Arabia (KSA) exceeding 35 million people and in the presence of a non-structured increase in the number of pediatric cardiac centers, we expect to face some concerns like dilution of the service where the volume will be less than the acceptable standards, the increase in mortality and morbidity, and failure to obtain personalized medicine at a reasonable cost. Therefore, we built up this survey questionnaire about those concerns and collected the opinion of expert medical staff in Saudi Arabia who are working in the field of pediatric cardiology. Seventy percent of the responders vs. 25% recommend the centralization of the PCS as the solution for the above concerns, and 94% recommend sticking to the globally accepted criteria when issuing the license of the centers providing PCS including the volume of patients in each center, and minimum multidisciplinary facilities in terms of resources, services, and personnel.
ABSTRACT
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 5â¯years of follow-up. We conclude that later intravenous immunoglobulins (IVIG) treatment could be an important factor-among others-that precipitate into such complications.
ABSTRACT
A 4-year-old girl had an Amplatzer duct occluder embolized to the descending aorta immediately after closure of patent ductus arteriosus: a novel technique of retrieval.
