Introduction

Congenital heart defects (CHDs) are a common variety of birth defects, with an overall prevalence of 8 per 1000 live births. 25% of all CHDs are life-threatening and need intervention. CHD account for approximately one third of all congenital anomalies, and are the single largest contributor to infant mortality attributable to birth defects .

Congenital heart disease (CHD) refers to a broad range of conditions that manifest from prenatal period to late adulthood. Generally, CHD refers to structural heart defects that are present at birth.

CHDs are diagnosed using NADA’s Criteria, which is stated as follows :

Many a times CHDs present with Extra-Cardiac Anomalies and have many other manifestations for the same. Extra-Cardiac Anomalies are the various musculoskeletal, cranial,facial anomalies or associated with some syndromes and chromosomal disorders which are found in children with CHD. Variousclinical studies have reported that up to 30% of children with CHDs may have additional Extra-cardiac birth defects that may further add to the morbidity and mortality. The presence of an Extra-Cardiac anomaly significantly increases the mortality in infants with CHD.

 CHD may be present with a syndrome containing known anomalies with specific physical findings or can be present with manifestations of a systemic defect which affects the heart and other systems. To assess the possible systemic disease or congenital malformation syndromes, all systems of the body should be examined. Extracardiac abnormalities are found in 20 -45% of children with CHD. 5 -10% of patients have a known chromosomal abnormality.

In those patients without an identified syndrome, the extra cardiac anomalies occur in the musculoskeletal system in approximately 8.8% of cases, in the central nervous system in 6.9%, the genitor-urinary system in 4.2%, the respiratory system in 3.8% and in less than 1% in the hematological system.

The extracardiac defects were diagnosed based onstandard definitions .Wherever indicated, further investigations like ultrasound (abdomen/skull), computed tomography (CT), audiometry, ophthalmologic evaluation and thyroid hormone profile were done. G-banded karyotype and fluorescence in situ hybridization (FISH) studies (for microdeletions) were performed whenever indicated. Defects were termed as ‘major’ if they had medical or surgical significance, or serious cosmetic significance [6]. ‘Minor’ defects were defined as unusual morphologic features not having any serious medical, surgical or cosmetic significance.

Research Question

What are the different Extra-Cardiac Anomalies can be found in children with CHDs ?

 PICOT

●       P: Patients having Congenital Heart Diseases.

●       I:  Investigations to rule out Extra-Cardiac anomalies.

●       C: CHDs with Extra-Cardiac anomalies and CHDs with no Extra-Cardiac anomalies

●       O: Finding Extra-Cardiac anomalies in children with CHDs

●       T:Two year

 Aim and Objective of the Study

●       Aim: To study the association between Extra-cardiac anomalies in children with CHDs

●       Objectives:

1)    To study the prevalence of Extra-Cardiac anomalies in CHD patients.

2)    To study the clinical outcome in children with CHDs who have Extra-Cardiac anomalies.

 Materials and Methods

4. Study design: Descriptive, Cross-sectional study
5. Setting: The AVBRH, Sawangi is the rural medical college located in Maharashtra. This study will be conducted in Department of Pediatrics, in Jawaharlal Nehru Medical College & AVBRH Hospital, Sawangi, Wardha, from January 2023 to January 2025.
6. Inclusion criteria: 1) CHD patients with Extra-Cardiac Anomalies
7.  Exclusion criteria: 1)    Refusal of consent from parents. 

1)    Methodology:

After obtaining the informed consent from the parents/guardians, children will be included in the study.All the CHD patients seen in OPD, admitted to Paediatrics Ward and PICUwill be selected as per the inclusion criteria and a detailed history, physicalexamination and investigations and other important information will be collected and entered in a pre-designed pre-validated proforma.

The patients clinical course and management will be noted

ExtraCardiac anomalies can be visualized at birth or after required investigations and can be stated as follows :

·      What are ExtraCardiac anomalies ?

ExtraCardiac anomalies are the different systemic and generalised congenital malformations present in children with CHDs.

The commonly seen ExtraCardiac anomalies in children with CHDs seen are as follows :

·      What is LOW SET EAR ?

Low-set ear: A minor anomaly in which the ear is situated below the normal location. Technically, the ear is low-set when the helix of the ear meets the cranium at a level below that of a horizontal plane through both inner canthi (the inside corners of the eyes).

·       What isHIGH ARCHEDPALATE?

An abnormally pronounced curvature angled superiorly along the palatal midline. The high-arched palate is associated with postnatal gingival swelling, crowding in the molars, and other such secondary dental anomalies.

·      What is CLEFT PALATE ?

Cleft palate is an opening or split in the roof of the mouth that occurs when the tissue doesn’t fuse together during development in the womb. A cleft palate often includes a split (cleft) in the upper lip (cleft lip) but can occur without affecting the lip.

·      What is LOW POSTERIOR HAIRLINE?

Hair on the neck extends more inferiorly than the usual line.

·      What is SHORT PHILTRUM?

A shorter than normal distance between the upper lip and the nose

·      What is POLYDACTYLY?

   A condition in which a person or animal has more than five fingers or toes on one, or on each, hand or foot.

Apart from the above stated anomalies there are some other systemic anomalies which include

GENTIOURINARY ANOMALIES - These include Kidneys, Ureter, Urinary Bladder, Urethra; Cryptorchidism, Hypospadias.

CRANIAL DEFECTS – Agenesis of Corpus Callosum, Anencephaly, Craniosynostosis, Hemifacial microsomia, Micrognathia, Spina Bifida.

LIMB DEFECTS – Hypoplasia of limb, CTEV, Amniotic Band Syndrome.

 Lastly the Chromosomal anomalies which are part of Syndromes stated below lead to CHDs and other ExtraCardiac anomalies are

 Flowchart

Sample size calculation